{ "uniprot_canonical_ac": "A8MYU2-1", "uniprot_ac": "A8MYU2", "uniprot_id": "KCNU1_HUMAN", "mass": { "chemical_mass": 129543.0, "monoisotopic_mass": 129543.0 }, "refseq": { "ac": "NP_001027006", "name": "potassium channel subfamily U member 1", "summary": "This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027006" }, "gene_names": [ { "name": "KCNU1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A8MYU2", "id": "A8MYU2" }, { "name": "KCNMA3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A8MYU2", "id": "A8MYU2" }, { "name": "KCNMC1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A8MYU2", "id": "A8MYU2" }, { "name": "KCNU1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027006", "id": "NP_001027006" }, { "name": "KCa5; KCa5.1; Kcnma3; KCNMC1; Slo3; SPGF79", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027006", "id": "NP_001027006" }, { "name": "SLO3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A8MYU2", "id": "A8MYU2" } ], "protein_names": [ { "name": "Potassium channel subfamily U member 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A8MYU2" }, { "name": "Calcium-activated potassium channel subunit alpha-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8MYU2" }, { "name": "Calcium-activated potassium channel, subfamily M subunit alpha-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8MYU2" }, { "name": "KCa5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8MYU2" }, { "name": "Slowpoke homolog 3; potassium channel, subfamily U, member 1; Calcium-activated potassium channel subunit alpha-3; Calcium-activated potassium channel, subfamily M subunit alpha-3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027006", "id": "NP_001027006" }, { "name": "Slowpoke homolog 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A8MYU2" }, { "name": "potassium channel subfamily U member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027006", "id": "NP_001027006" } ], "function": [ { "annotation": "Bi-allelic variants in KCNU1 cause impaired acrosome reactions and male infertility.", "evidence": [ { "database": "RefSeq", "id": "NP_001027006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027006" }, { "database": "PubMed", "id": "35551387", "url": "https://glygen.org/publication/PubMed/35551387" } ] }, { "annotation": "Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001027006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027006" }, { "database": "PubMed", "id": "34980136", "url": "https://glygen.org/publication/PubMed/34980136" } ] }, { "annotation": "Results suggest that sperm-specific genes can evolve rapidly and that natural genetic variation may have led to a SLO3 variant that differs from wild type in both pH and intracellular Ca(2+) sensitivities.", "evidence": [ { "database": "RefSeq", "id": "NP_001027006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027006" }, { "database": "PubMed", "id": "28377504", "url": "https://glygen.org/publication/PubMed/28377504" } ] }, { "annotation": "Testis-specific potassium channel activated by both intracellular pH and membrane voltage that mediates export of K(+). May represent the primary spermatozoan K(+) current. In contrast to KCNMA1/SLO1, it is not activated by Ca(2+) or Mg(2+). Critical for fertility. May play an important role in sperm osmoregulation required for the acquisition of normal morphology and motility when faced with osmotic challenges, such as those experienced after mixing with seminal fluid and entry into the vagina.", "evidence": [ { "database": "UniProtKB", "id": "A8MYU2", "url": "https://www.uniprot.org/uniprot/A8MYU2#function" }, { "database": "PubMed", "id": "23129643", "url": "https://glygen.org/publication/PubMed/23129643" }, { "database": "PubMed", "id": "35551387", "url": "https://glygen.org/publication/PubMed/35551387" }, { "database": "PubMed", "id": "34980136", "url": "https://glygen.org/publication/PubMed/34980136" } ] }, { "annotation": "The authors conclude that Slo3 represents the principal K(+) channel in human sperm that carries the Ca(2+)-activated IKSper current. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001027006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027006" }, { "database": "PubMed", "id": "24670955", "url": "https://glygen.org/publication/PubMed/24670955" } ] }, { "annotation": "These results present insights into the function of a protein expected to be critical for human reproduction and provide a framework to study the mechanism of pH gating in SLO3 channels.", "evidence": [ { "database": "RefSeq", "id": "NP_001027006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027006" }, { "database": "PubMed", "id": "23129643", "url": "https://glygen.org/publication/PubMed/23129643" } ] }, { "annotation": "This gene encodes a member of the potassium channel family of proteins. The encoded voltage-gated ion channel allows the outward flow of potassium ions during plasma membrane hyperpolarization in sperm. Opening of this channel may be regulated by calcium ion levels. Homozygous knockout mice that lack the related mouse gene exhibit male sterility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001027006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027006" } ] } ], "disease": [ { "disease_id": "MONDO:0859352", "recommended_name": { "id": "MONDO:0859352", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859352", "name": "spermatogenic failure 79", "description": "" }, "synonyms": [ { "id": "MIM:620196", "resource": "MIM", "url": "https://www.omim.org/entry/620196", "name": "Spermatogenic failure 79", "description": "Spermatogenic failure 79" } ], "evidence": [ { "id": "620196", "database": "MIM", "url": "https://www.omim.org/entry/620196" } ] } ], "snv": [ { "evidence": [ { "id": "rs375117155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375117155" }, { "id": "rs375117155", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs375117155" }, { "id": "rs375117155", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs375117155" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1015, "end_pos": 1015, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKR->NKS).", "chr_id": "8", "chr_pos": "36935515", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R1015", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs961714882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs961714882" }, { "id": "rs961714882", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs961714882#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1096, "end_pos": 1096, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TNS->NNS).", "chr_id": "8", "chr_pos": "36935757", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1096", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs558846564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs558846564" }, { "id": "rs558846564", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs558846564" }, { "id": "rs558846564", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs558846564" }, { "id": "rs558846564", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs558846564" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1131, "end_pos": 1131, "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NER->NET).", "chr_id": "8", "chr_pos": "36935862", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "R1131", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1219337506", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1219337506" }, { "id": "rs1219337506", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1219337506" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 125, "end_pos": 125, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "8", "chr_pos": "36804084", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A125", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756630615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756630615" }, { "id": "rs756630615", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756630615" }, { "id": "rs756630615", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs756630615#frequency_tab" }, { "id": "rs756630615", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756630615" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 16, "end_pos": 16, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KMS->NMS).", "chr_id": "8", "chr_pos": "36784458", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K16", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A8MYU2", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A8MYU2" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 217, "end_pos": 217, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KTS->NTS).", "chr_id": "8", "chr_pos": "36807445", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K217", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs200060902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200060902" }, { "id": "rs200060902", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200060902" }, { "id": "rs200060902", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200060902" }, { "id": "rs200060902", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200060902#frequency_tab" }, { "id": "rs200060902", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200060902" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 355, "end_pos": 355, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DKS->NKS).", "chr_id": "8", "chr_pos": "36817717", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "D355", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A8MYU2", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A8MYU2" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 59, "end_pos": 59, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KGT->NGT).", "chr_id": "8", "chr_pos": "36784587", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K59", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", 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"MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial 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hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, 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cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A8MYU2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MYU2" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A8MYU2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MYU2" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A8MYU2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MYU2" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "A8MYU2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MYU2" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "A8MYU2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A8MYU2" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"categories": [ "Other" ] }, { "id": "KCNU1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNU1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "157855", "url": "https://www.ncbi.nlm.nih.gov/gene/157855", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "18867", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18867", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR003929", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003929", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005821", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005821", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047871", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047871", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR048735", "url": "https://www.ebi.ac.uk/interpro/entry/IPR048735", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:157855", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:157855", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "615215", "url": "http://www.omim.org/entry/615215", "database": "MIM", "categories": [ "Other" ] }, { "id": "620196", "url": "http://www.omim.org/entry/620196", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_A8MYU2", "url": "https://www.nextprot.org/entry/NX_A8MYU2", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "AWNQSRT", "url": "https://omabrowser.org/oma/group/AWNQSRT/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2902976at2759", "url": "http://www.orthodb.org/?query=2902976at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10027", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10027", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10027:SF23", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10027:SF23", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4HPF", "url": "https://www.rcsb.org/structure/4HPF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00520", "url": "http://pfam.xfam.org/family/PF00520", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF03493", "url": "http://pfam.xfam.org/family/PF03493", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF21014", "url": "http://pfam.xfam.org/family/PF21014", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A8MYU2", "url": "https://pharos.nih.gov/targets/A8MYU2", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050622", "url": "https://proconsortium.org/app/entry/PR:000050622", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_A8MYU2", "url": "http://purl.obolibrary.org/obo/PR_A8MYU2", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1300642", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1300642", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001027006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027006", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A8MYU2", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A8MYU2", "url": "https://www.uniprot.org/uniprot/A8MYU2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A8MYU2-1", "url": "https://www.uniprot.org/uniprot/A8MYU2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RGP7", "url": "https://www.uniprot.org/uniprot/E5RGP7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RGP7-1", "url": "https://www.uniprot.org/uniprot/E5RGP7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RHP1", "url": "https://www.uniprot.org/uniprot/E5RHP1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RHP1-1", "url": "https://www.uniprot.org/uniprot/E5RHP1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RJA6", "url": "https://www.uniprot.org/uniprot/E5RJA6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E5RJA6-1", "url": "https://www.uniprot.org/uniprot/E5RJA6-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MFQTKLRNETWEDLPKMSCTTEIQAAFILSSFVTFFSGLIILLIFRLIWRSVKKWQIIKGTGIILELFTSGTIARSHVRSLHFQGQFRDHIEMLLSAQTFVGQVLVILVFVLSIGSLIIYFINSADPVGSCSSYEDKTIPIDLVFNAFFSFYFGLRFMAADDKIKFWLEMNSIVDIFTIPPTFISYYLKSNWLGLRFLRALRLLELPQILQILRAIKTSNSVKFSKLLSIILSTWFTAAGFIHLVENSGDPWLKGRNSQNISYFESIYLVMATTSTVGFGDVVAKTSLGRTFIMFFTLGSLILFANYIPEMVELFANKRKYTSSYEALKGKKFIVVCGNITVDSVTAFLRNFLRDKSGEINTEIVFLGETPPSLELETIFKCYLAYTTFISGSAMKWEDLRRVAVESAEACLIIANPLCSDSHAEDISNIMRVLSIKNYDSTTRIIIQILQSHNKVYLPKIPSWNWDTGDNIICFAELKLGFIAQGCLVPGLCTFLTSLFVEQNKKVMPKQTWKKHFLNSMKNKILTQRLSDDFAGMSFPEVARLCFLKMHLLLIAIEYKSLFTDGFCGLILNPPPQVRIRKNTLGFFIAETPKDVRRALFYCSVCHDDVFIPELITNCGCKSRSRQHITVPSVKRMKKCLKGISSRISGQDSPPRVSASTSSISNFTTRTLQHDVEQDSDQLDSSGMFHWCKPTSLDKVTLKRTGKSKYKFRNHIVACVFGDAHSAPMGLRNFVMPLRASNYTRKELKDIVFIGSLDYLQREWRFLWNFPQIYILPGCALYSGDLHAANIEQCSMCAVLSPPPQPSSNQTLVDTEAIMATLTIGSLQIDSSSDPSPSVSEETPGYTNGHNEKSNCRKVPILTELKNPSNIHFIEQLGGLEGSLQETNLHLSTAFSTGTVFSGSFLDSLLATAFYNYHVLELLQMLVTGGVSSQLEQHLDKDKVYGVADSCTSLLSGRNRCKLGLLSLHETILSDVNPRNTFGQLFCGSLDLFGILCVGLYRIIDEEELNPENKRFVITRPANEFKLLPSDLVFCAIPFSTACYKRNEEFSLQKSYEIVNKASQTTETHSDTNCPPTIDSVTETLYSPVYSYQPRTNSLSFPKQIAWNQSRTNSIISSQIPLGDNAKENERKTSDEVYDEDPFAYSEPL", "length": 1149, "header": "sp|A8MYU2-1|KCNU1_HUMAN Isoform 1 of Potassium channel subfamily U member 1 OS=Homo sapiens OX=9606 GN=KCNU1 PE=1 SV=2 CANONICAL=A8MYU2-1" }, "isoforms": [ { "isoform_ac": "A8MYU2-1", "url": "", "sequence": { "sequence": "MFQTKLRNETWEDLPKMSCTTEIQAAFILSSFVTFFSGLIILLIFRLIWRSVKKWQIIKGTGIILELFTSGTIARSHVRSLHFQGQFRDHIEMLLSAQTFVGQVLVILVFVLSIGSLIIYFINSADPVGSCSSYEDKTIPIDLVFNAFFSFYFGLRFMAADDKIKFWLEMNSIVDIFTIPPTFISYYLKSNWLGLRFLRALRLLELPQILQILRAIKTSNSVKFSKLLSIILSTWFTAAGFIHLVENSGDPWLKGRNSQNISYFESIYLVMATTSTVGFGDVVAKTSLGRTFIMFFTLGSLILFANYIPEMVELFANKRKYTSSYEALKGKKFIVVCGNITVDSVTAFLRNFLRDKSGEINTEIVFLGETPPSLELETIFKCYLAYTTFISGSAMKWEDLRRVAVESAEACLIIANPLCSDSHAEDISNIMRVLSIKNYDSTTRIIIQILQSHNKVYLPKIPSWNWDTGDNIICFAELKLGFIAQGCLVPGLCTFLTSLFVEQNKKVMPKQTWKKHFLNSMKNKILTQRLSDDFAGMSFPEVARLCFLKMHLLLIAIEYKSLFTDGFCGLILNPPPQVRIRKNTLGFFIAETPKDVRRALFYCSVCHDDVFIPELITNCGCKSRSRQHITVPSVKRMKKCLKGISSRISGQDSPPRVSASTSSISNFTTRTLQHDVEQDSDQLDSSGMFHWCKPTSLDKVTLKRTGKSKYKFRNHIVACVFGDAHSAPMGLRNFVMPLRASNYTRKELKDIVFIGSLDYLQREWRFLWNFPQIYILPGCALYSGDLHAANIEQCSMCAVLSPPPQPSSNQTLVDTEAIMATLTIGSLQIDSSSDPSPSVSEETPGYTNGHNEKSNCRKVPILTELKNPSNIHFIEQLGGLEGSLQETNLHLSTAFSTGTVFSGSFLDSLLATAFYNYHVLELLQMLVTGGVSSQLEQHLDKDKVYGVADSCTSLLSGRNRCKLGLLSLHETILSDVNPRNTFGQLFCGSLDLFGILCVGLYRIIDEEELNPENKRFVITRPANEFKLLPSDLVFCAIPFSTACYKRNEEFSLQKSYEIVNKASQTTETHSDTNCPPTIDSVTETLYSPVYSYQPRTNSLSFPKQIAWNQSRTNSIISSQIPLGDNAKENERKTSDEVYDEDPFAYSEPL", "length": 1149, "header": "sp|A8MYU2-1|KCNU1_HUMAN Isoform 1 of Potassium channel subfamily U member 1 OS=Homo sapiens OX=9606 GN=KCNU1 PE=1 SV=2 CANONICAL=A8MYU2-1" }, "locus": { "chromosome": "8", "start_pos": 36935917, "end_pos": 36784411, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000399881.8", "url": "https://www.ensembl.org/id/ENST00000399881.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000382770.3", "url": "https://www.ensembl.org/id/ENSP00000382770.3" } ] } }, { "isoform_ac": "E5RGP7-1", "url": "", "sequence": { "sequence": "MFQTKLRNETWEDLPKMSCTTEIQAAFILSSFVTFFSGLIILLIFRLIWRSVKKWQIIKGTGIILELFTSGTIARSHVRSLHFQGQFRDHIEMLLSAQTFVGQVLVILVFVLSIGSLIIYFINSADPVGSCSSYEDKTIPIDLVFNAFFSFYFGLRFMAADDKIKFWLEMNSIVDIFTIPPTFISYYLKSNWLGLRFLRALRLLELPQILQILRAIKTSNSVKFSKLLSIILSTWFTAAGFIHLVENSGDPWLKGRNSQNISYFESIYLVMATTSTVGFGDVVAKTSLGRTFIMFFTLGSLVKNIFNI", "length": 308, "header": "tr|E5RGP7-1|KCNU1_HUMAN Computationally mapped isoform of Potassium channel subfamily U member 1 OS=Homo sapiens OX=9606 GN=KCNU1 PE=1 SV=1 CANONICAL=A8MYU2-1" }, "locus": { "chromosome": "8", "start_pos": 36814398, "end_pos": 36784411, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000523973.5", "url": "https://www.ensembl.org/id/ENST00000523973.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429951.1", "url": "https://www.ensembl.org/id/ENSP00000429951.1" } ] } }, { "isoform_ac": "E5RHP1-1", "url": "", "sequence": { "sequence": "MFQTKLRNETWEDLPKMSCTTEIQAAFILSSFVTFFSGLIILLIFRLIWRSVKKWQIIKGTGIILELFTSGTIARSHVRSLHFQGQFRDHIEMLLSAQTFVGQVLVILVFVLSIGSLIIYFINSADPVGSCSSYEDKTIPIDLVFNAFFSFYFGLRFMAADDKIKFWLEMNSIVDIFTIPPTFISYYLKSNWLGLRFLRALRLLELPQILQILRAIKTSNSVKFSKLLSIILSTWFTAAGFIHLVENSGDPWLKGRNSQNISYFESIYLVMATTSTVGFGDVVAKTSLGRTFIMFFTLGSLILFANYIPEMVELFANKRKYTSSYEALKGKKFIVVCGNITVDSVTAFLRNFLRDKSGEINTEIVFLGETPPSLELETIFKCYLAYTTFISGSAMKWEDLRRVAVESAEACLIIANPLCSDSHAEDISNIMRVLSIKNYDSTTRIIIQILQSHNKVYLPKIPSWNWDTGDNIICFAELKLGFIAQGCLVPGLCTFLTSLFVEQNKKVMPKQTWKKHFLNSMKNKILTQRLSDDFAGMSFPEVARLCFLKMHLLLIAIEYKSLFTDGFCGLILNPPPQVRIRKNTLGFFIAETPKDVRRALFYCSVCHDDVFIPELITNCGCKSRSRQHITVPSVKRMKKCLKGISSRISGQDSPPRVSASTSSISNFTTRTLQHDVEQDSDQLDSSGMFHWCKPTSLDKVTLKRTGKSKYKFRNHIVACVFGDAHSAPMGLRNFVMPLRASNYTRKELKDIVFIGSLDYLQREWRFLWNFPQIYILPGCALYSGDLHAANIEQCSMCAVLSPPPQPSSNQTLVDTEAIMATLTIGSLQIDSSSDPSPSVSEETPGYTNGHNEKSNCRKVPILTELKNPSNIHFIEQLGGLEGSLQETNLHLSTAFSTGTVFSGSFLDSLLATLMWKLAIKGSQFQGRSSGLCWPSTIIMSWNCFRCW", "length": 947, "header": "tr|E5RHP1-1|KCNU1_HUMAN Computationally mapped isoform of Potassium channel subfamily U member 1 OS=Homo sapiens OX=9606 GN=KCNU1 PE=1 SV=1 CANONICAL=A8MYU2-1" }, "locus": { "chromosome": "8", "start_pos": 36930993, "end_pos": 36784411, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522372.5", "url": "https://www.ensembl.org/id/ENST00000522372.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428552.1", "url": "https://www.ensembl.org/id/ENSP00000428552.1" } ] } }, { "isoform_ac": "E5RJA6-1", "url": "", "sequence": { "sequence": "MFQTKLRNETWEDLPKMSCTTEIQAAFILSSFVTFFSGLIILLIFRLIWRSVKKWQIIKGTGIILELFTSGTIARSHVRSLHFQGQFRDHIEMLLSAQTFVGQVLPCWKLFII", "length": 113, "header": "tr|E5RJA6-1|KCNU1_HUMAN Computationally mapped isoform of Potassium channel subfamily U member 1 OS=Homo sapiens OX=9606 GN=KCNU1 PE=1 SV=1 CANONICAL=A8MYU2-1" }, "locus": { "chromosome": "8", "start_pos": 36805218, "end_pos": 36784411, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000522417.1", "url": "https://www.ensembl.org/id/ENST00000522417.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000429149.1", "url": "https://www.ensembl.org/id/ENSP00000429149.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G09528DL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 666, "start_aa": "Asn", "end_pos": 666, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn666", "evidence": [ { "id": "A8MYU2", "database": "UniCarbKB", "url": "" }, { "id": "26791533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26791533" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "A sperm ion channel required for sperm motility and male fertility.", "journal": "Nature", "date": "2001", "authors": "Ren D, Navarro B, Perez G, Jackson AC, Hsu S, Shi Q, Tilly JL, Clapham DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1300642", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1300642" } ], "reference": [ { "type": "PubMed", "id": "11595941", "url": "https://glygen.org/publication/PubMed/11595941" } ] }, { "title": "All four CatSper ion channel proteins are required for male fertility and sperm cell hyperactivated motility.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Qi H, Moran MM, Navarro B, Chong JA, Krapivinsky G, Krapivinsky L, Kirichok Y, Ramsey IS, Quill TA, Clapham DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1300642", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1300642" } ], "reference": [ { "type": "PubMed", "id": "17227845", "url": "https://glygen.org/publication/PubMed/17227845" } ] }, { "title": "KSper, a pH-sensitive K+ current that controls sperm membrane potential.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2007", "authors": "Navarro B, Kirichok Y, Clapham DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1300642", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1300642" } ], "reference": [ { "type": "PubMed", "id": "17460039", "url": "https://glygen.org/publication/PubMed/17460039" } ] }, { "title": "Acid extrusion from human spermatozoa is mediated by flagellar voltage-gated proton channel.", "journal": "Cell", "date": "2010", "authors": "Lishko PV, Botchkina IL, Fedorenko A, Kirichok Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1300642", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1300642" } ], "reference": [ { "type": "PubMed", "id": "20144758", "url": "https://glygen.org/publication/PubMed/20144758" } ] }, { "title": "Genetic male infertility and mutation of CATSPER ion channels.", "journal": "European journal of human genetics : EJHG", "date": "2010", "authors": "Hildebrand MS, Avenarius MR, Fellous M, Zhang Y, Meyer NC, Auer J, Serres C, Kahrizi K, Najmabadi H, Beckmann JS, Smith RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1300642", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1300642" } ], "reference": [ { "type": "PubMed", "id": "20648059", "url": "https://glygen.org/publication/PubMed/20648059" } ] }, { "title": "The CatSper channel mediates progesterone-induced Ca2+ influx in human sperm.", "journal": "Nature", "date": "2011", "authors": "Strunker T, Goodwin N, Brenker C, Kashikar ND, Weyand I, Seifert R, Kaupp UB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1300642", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1300642" } ], "reference": [ { "type": "PubMed", "id": "21412338", "url": "https://glygen.org/publication/PubMed/21412338" } ] }, { "title": "Progesterone activates the principal Ca2+ channel of human sperm.", "journal": "Nature", "date": "2011", "authors": "Lishko PV, Botchkina IL, Kirichok Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-1300642", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1300642" } ], "reference": [ { "type": "PubMed", "id": "21412339", "url": "https://glygen.org/publication/PubMed/21412339" } ] }, { "title": "Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing.", "journal": "Cell", "date": "2012", "authors": "Imielinski M, Berger AH, Hammerman PS, Hernandez B, Pugh TJ, Hodis E, Cho J, Suh J, Capelletti M, Sivachenko A, Sougnez C, Auclair D, Lawrence MS, Stojanov P, Cibulskis K, Choi K, de Waal L, Sharifnia T, Brooks A, Greulich H, Banerji S, Zander T, Seidel D, Leenders F, Ansen S, Ludwig C, Engel-Riedel W, Stoelben E, Wolf J, Goparju C, Thompson K, Winckler W, Kwiatkowski D, Johnson BE, Janne PA, Miller VA, Pao W, Travis WD, Pass HI, Gabriel SB, Lander ES, Thomas RK, Garraway LA, Getz G, Meyerson M", "evidence": [ { "database": "dbSNP", "id": "rs1396416725", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1396416725" } ], "reference": [ { "type": "PubMed", "id": "22980975", "url": "https://glygen.org/publication/PubMed/22980975" } ] }, { "title": "Functional and structural analysis of the human SLO3 pH- and voltage-gated K+ channel.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Leonetti MD, Yuan P, Hsiung Y, Mackinnon R", "evidence": [ { "database": "UniProtKB", "id": "A8MYU2", "url": "https://www.uniprot.org/uniprot/A8MYU2" }, { "database": "RefSeq", "id": "NP_001027006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027006" } ], "reference": [ { "type": "PubMed", "id": "23129643", "url": "https://glygen.org/publication/PubMed/23129643" } ] }, { "title": "Disruption of the principal, progesterone-activated sperm Ca2+ channel in a CatSper2-deficient infertile patient.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Smith JF, Syritsyna O, Fellous M, Serres C, Mannowetz N, Kirichok Y, Lishko PV", "evidence": [ { "database": "Reactome", "id": "R-HSA-1300642", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1300642" } ], "reference": [ { "type": "PubMed", "id": "23530196", "url": "https://glygen.org/publication/PubMed/23530196" } ] }, { "title": "The Ca2+-activated K+ current of human sperm is mediated by Slo3.", "journal": "eLife", "date": "2014", "authors": "Brenker C, Zhou Y, Muller A, Echeverry FA, Trotschel C, Poetsch A, Xia XM, Bonigk W, Lingle CJ, Kaupp UB, Strunker T", "evidence": [ { "database": "RefSeq", "id": "NP_001027006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027006" } ], "reference": [ { "type": "PubMed", "id": "24670955", "url": "https://glygen.org/publication/PubMed/24670955" } ] }, { "title": "N-Glycoproteomics of Human Seminal Plasma Glycoproteins.", "journal": "Journal of proteome research", "date": "2016", "authors": "Saraswat M, Joenvaara S, Tomar AK, Singh S, Yadav S, Renkonen R", "evidence": [ { "database": "UniCarbKB", "id": "A8MYU2", "url": "" } ], "reference": [ { "type": "PubMed", "id": "26791533", "url": "https://glygen.org/publication/PubMed/26791533" } ] }, { "title": "A genetic variant of the sperm-specific SLO3 K(+) channel has altered pH and Ca(2+) sensitivities.", "journal": "The Journal of biological chemistry", "date": "2017", "authors": "Geng Y, Ferreira JJ, Dzikunu V, Butler A, Lybaert P, Yuan P, Magleby KL, Salkoff L, Santi CM", "evidence": [ { "database": "RefSeq", "id": "NP_001027006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027006" } ], "reference": [ { "type": "PubMed", "id": "28377504", "url": "https://glygen.org/publication/PubMed/28377504" } ] }, { "title": "Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations.", "journal": "Reproductive biology and endocrinology : RB&E", "date": "2022", "authors": "Lv M, Liu C, Ma C, Yu H, Shao Z, Gao Y, Liu Y, Wu H, Tang D, Tan Q, Zhang J, Li K, Xu C, Geng H, Zhang J, Li H, Mao X, Ge L, Fu F, Zhong K, Xu Y, Tao F, Zhou P, Wei Z, He X, Zhang F, Cao Y", "evidence": [ { "database": "UniProtKB", "id": "A8MYU2", "url": "https://www.uniprot.org/uniprot/A8MYU2" }, { "database": "RefSeq", "id": "NP_001027006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027006" } ], "reference": [ { "type": "PubMed", "id": "34980136", "url": "https://glygen.org/publication/PubMed/34980136" } ] }, { "title": "Bi-allelic variants in KCNU1 cause impaired acrosome reactions and male infertility.", "journal": "Human reproduction (Oxford, England)", "date": "2022", "authors": "Liu R, Yan Z, Fan Y, Qu R, Chen B, Li B, Wu L, Wu H, Mu J, Zhao L, Wang W, Dong J, Zeng Y, Li Q, Wang L, Sang Q, Zhang Z, Kuang Y", "evidence": [ { "database": "UniProtKB", "id": "A8MYU2", "url": "https://www.uniprot.org/uniprot/A8MYU2" }, { "database": "RefSeq", "id": "NP_001027006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027006" } ], "reference": [ { "type": "PubMed", "id": "35551387", "url": "https://glygen.org/publication/PubMed/35551387" } ] }, { "title": "Slo3, a novel pH-sensitive K+ channel from mammalian spermatocytes.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Schreiber M, Wei A, Yuan A, Gaut J, Saito M, Salkoff L", "evidence": [ { "database": "UniProtKB", "id": "A8MYU2", "url": "https://www.uniprot.org/uniprot/A8MYU2" }, { "database": "Reactome", "id": "R-HSA-1300642", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1300642" } ], "reference": [ { "type": "PubMed", "id": "9452476", "url": "https://glygen.org/publication/PubMed/9452476" } ] } ], "pathway": [ { "id": "hsa:157855", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:157855", "resource": "KEGG Pathway" }, { "id": "R-HSA-1300642", "name": "Sperm Motility And Taxes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1300642", "resource": "Reactome", "description": "Sperm Motility And Taxes" } ], "orthologs": [ { "uniprot_canonical_ac": "D4A6Z8-1", "protein_name": "Calcium-activated potassium channel subunit alpha-1", "gene_name": "Kcnu1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSQTLLDNLNKKELTETSCTIEIQAAFILSSLATFFGGLIVLFIFRIALKISRNWKTVKGPRGILELFSSRRIEVNPLRKLYFHGVFRERIEMLLSAQTIVGQVLVILVFVLSIGSLVIYFINSMDPVRKCSSYEDKIVHVDLSFNAFFSFYFGLRFWAAEDKIKFWLEMNSIVDIFTIPPTFISYYLKSNWLGLRFLRALRLLELPKILQILQVIKTSNSVKLSKLMSIVISTWFTAAGFLHLVENSGDPWLNGRNSQTMSYFESIYLVTATMSTVGFGDVVAKTSLGRIFIVFFTLGSLILFANYIPEMVELFSTRKKYNKPYEAVKGKKFIVVCGNITIDSVTAFLRNFLHRKAGEINIEIVFLGEAPPSVELETLLKCHTSCTTFVCGTALKFEDLKRVAVENAEACLILANPFCSDLHDEDNSNIMRVLSIKNYYPQTRVIIQMLQSQNKVFLSRIPNWNWSAGDNIICFAELKLGFIAQGCLVPGLCTFLTTLFIEQNQKVFPKHPWQKHFLNGLKNKILTQRLSNDFVGMTFPQVSRLCFLKMHLMLIAIQHKPLFHNCCSLILNPSSQVRLNKDTLGFFIAESSKDVKRALFYCSNCHSDVCNPELIGKCGCKNRSRQQLVAPTIMVMQSSLNEFAPTAEIYTSISREQTSSVTILTTRNMPVDTADDSDMLDSSGMFHWCRSMPLDKVVLKRSDKATHEFQNHIVACVFGDAHSSLMGLRNFVMPLRASNYTRQELKDIVFIGSLEYFQREWRFLRNFPKIHIMPGSALYTGDLHAVNVEQCSMCVILATPYKALSSQLLVDTETIMATLNIQALRISCPMSGSSKKEVNTSPTFSKYEGKQRYQQIPILTELKNPSNIHFIEQMDGLDEAIKGTSLHLSTAFSTGTVFSGTFLDSLLATAFYNYHVLELLQMLVTGGINSQTEHCLVKEKLYEGNEGGATFLSGRTRCKLGLLSLDETILSDIKPKKTFGQLFCGSLDNLGILCVGLYRMMDEGEHNSERKRFVITRPANECHLLPSDLVFCAIPFSITCDKSESNASIQDQDTTTNVTSMSQGSNFQGAQSALNEHSLSPASAMGEKKSPQLLNSRVYPLNLFDASDIDPGK", "length": 1113 }, "evidence": [ { "id": "45934215", "url": "http://www.informatics.jax.org/homology/45934215", "database": "MGI" }, { "id": "A8MYU2", "url": "https://omabrowser.org/oma/group/A8MYU2/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "O54982-1", "protein_name": "Potassium channel subfamily U member 1", "gene_name": "Kcnu1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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"length": 1121 }, "evidence": [ { "id": "45934215", "url": "http://www.informatics.jax.org/homology/45934215", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A8MYU2", "url": "https://www.uniprot.org/uniprot/A8MYU2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A8MYU2", "url": "https://www.uniprot.org/uniprot/A8MYU2" } ], "pmid": "" }, { "name": "monoatomic ion channel complex", "id": "GO:0034702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034702", "evidence": [ { "database": "UniProtKB", "id": "A8MYU2", "url": "https://www.uniprot.org/uniprot/A8MYU2" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "potassium channel activity", "id": "GO:0005267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005267", "evidence": [ { "database": "UniProtKB", "id": "A8MYU2", "url": "https://www.uniprot.org/uniprot/A8MYU2" } ], "pmid": "" }, { "name": "monoatomic ion channel activity", "id": "GO:0005216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005216", "evidence": [ { "database": "UniProtKB", "id": "A8MYU2", "url": "https://www.uniprot.org/uniprot/A8MYU2" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "reproductive process", "id": "GO:0022414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022414", "evidence": [ { "database": "UniProtKB", "id": "A8MYU2", "url": "https://www.uniprot.org/uniprot/A8MYU2" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "A8MYU2", "url": "https://www.uniprot.org/uniprot/A8MYU2" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "potassium channel subfamily U member 1 N-glycosylated 1 (human)", "definition": "A potassium channel subfamily U member 1 (human) that has been N-glycosylated at the residue equivalent to Asn-666 of the amino acid sequence represented by UniProtKB:A8MYU2-1, in which the glycan composition is represented by GlyTouCan:G09528DL. Example: UniProtKB:A8MYU2-1, Asn-666, MOD:00160~GNO:G09528DL. [PRO:DNx, PMID:26791533]", "evidence": [ { "id": "PR:000050622", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050622" } ] } ], "site_annotation": [ { "start_pos": 1108, "end_pos": 1110, "annotation": "n_glycosylation_sequon" }, { "start_pos": 260, "end_pos": 262, "annotation": "n_glycosylation_sequon" }, { "start_pos": 339, "end_pos": 341, "annotation": "n_glycosylation_sequon" }, { "start_pos": 666, "end_pos": 668, "annotation": "n_glycosylation_sequon" }, { "start_pos": 742, "end_pos": 744, "annotation": "n_glycosylation_sequon" }, { "start_pos": 809, "end_pos": 811, "annotation": "n_glycosylation_sequon" }, { "start_pos": 8, "end_pos": 10, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 666 ], "o_linked_sites": [], "snv_sites": [ 16, 59, 88, 125, 217, 355, 628, 663, 668, 699, 713, 716, 771, 821, 853, 868, 972, 1015, 1096, 1131 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 1108, "end_pos": 1110 }, { "start_pos": 260, "end_pos": 262 }, { "start_pos": 339, "end_pos": 341 }, { "start_pos": 666, "end_pos": 668 }, { "start_pos": 742, "end_pos": 744 }, { "start_pos": 809, "end_pos": 811 }, { "start_pos": 8, "end_pos": 10 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 1 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 22 }, { "field": "total_sites", "count": 20 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 13 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 16 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }