{ "uniprot_canonical_ac": "O14639-1", "uniprot_ac": "O14639", "uniprot_id": "ABLM1_HUMAN", "mass": { "chemical_mass": 87688.0, "monoisotopic_mass": 87688.0 }, "refseq": { "ac": "NP_001003407", "name": "actin-binding LIM protein 1 isoform b", "summary": "This gene encodes a LIM zinc-binding domain-containing protein that binds to actin filaments and mediates interactions between actin and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003407" }, "gene_names": [ { "name": "ABLIM1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14639", "id": "O14639" }, { "name": "ABLIM1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003407", "id": "NP_001003407" }, { "name": "ABLIM; abLIM-1; LIMAB1; LIMATIN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003407", "id": "NP_001003407" }, { "name": "ABLIM", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14639", "id": "O14639" }, { "name": "KIAA0059", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14639", "id": "O14639" }, { "name": "LIMAB1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14639", "id": "O14639" } ], "protein_names": [ { "name": "Actin-binding LIM protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14639" }, { "name": "Actin-binding LIM protein family member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14639" }, { "name": "Actin-binding double zinc finger protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14639" }, { "name": "LIMAB1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14639" }, { "name": "Limatin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14639" }, { "name": "abLIM-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14639" }, { "name": "actin-binding LIM protein 1 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003407", "id": "NP_001003407" }, { "name": "actin-binding double-zinc-finger protein; actin-binding LIM protein family member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003407", "id": "NP_001003407" } ], "function": [ { "annotation": "Actin-Binding LIM 1 (ABLIM1) Inhibits Glioblastoma Progression and Serves as a Novel Prognostic Biomarker. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001003407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003407" }, { "database": "PubMed", "id": "36583064", "url": "https://glygen.org/publication/PubMed/36583064" } ] }, { "annotation": "Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort.", "evidence": [ { "database": "RefSeq", "id": "NP_001003407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003407" }, { "database": "PubMed", "id": "33784440", "url": "https://glygen.org/publication/PubMed/33784440" } ] }, { "annotation": "Exon 11 inclusion isoform of ABLIM1 may have a muscle-specific function, and its abnormal splicing could be related to muscle symptoms of myotonic dystrophy type 1.", "evidence": [ { "database": "RefSeq", "id": "NP_001003407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003407" }, { "database": "PubMed", "id": "25403273", "url": "https://glygen.org/publication/PubMed/25403273" } ] }, { "annotation": "May act as scaffold protein (By similarity). May play a role in the development of the retina. Has been suggested to play a role in axon guidance.", "evidence": [ { "database": "UniProtKB", "id": "O14639", "url": "https://www.uniprot.org/uniprot/O14639#function" }, { "database": "PubMed", "id": "9245787", "url": "https://glygen.org/publication/PubMed/9245787" } ] }, { "annotation": "Rictor promotes cell migration and actin polymerization through regulating ABLIM1 phosphorylation in Hepatocellular Carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001003407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003407" }, { "database": "PubMed", "id": "33061800", "url": "https://glygen.org/publication/PubMed/33061800" } ] }, { "annotation": "SNP rs727532 in ABLIM1 (10q25) had significant association in the multivariate test & strong associations with novelty seeking, harm avoidance, reward dependence and alcohol dependence in the COGA sample.", "evidence": [ { "database": "RefSeq", "id": "NP_001003407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003407" }, { "database": "PubMed", "id": "21547531", "url": "https://glygen.org/publication/PubMed/21547531" } ] }, { "annotation": "This gene encodes a LIM zinc-binding domain-containing protein that binds to actin filaments and mediates interactions between actin and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_001003407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003407" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1054747980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1054747980" }, { "id": "rs1054747980", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1054747980" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 465, "end_pos": 465, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SYT->NYT); o-glyco-site-loss (S->N).", "chr_id": "10", "chr_pos": "114465745", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S465", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1179946795", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1179946795" }, { "id": "rs1179946795", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1179946795" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 221, "end_pos": 221, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TFS->NFS).", "chr_id": "10", "chr_pos": "114571308", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T221", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1338323520", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1338323520" }, { "id": "rs1338323520", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1338323520" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 349, "end_pos": 349, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TRT->NRT).", "chr_id": "10", "chr_pos": "114473952", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T349", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1380497784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1380497784" }, { "id": "rs1380497784", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1380497784" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 351, "end_pos": 351, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "10", "chr_pos": "114473947", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T351", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs759888337", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759888337" }, { "id": "rs759888337", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759888337" }, { "id": "rs759888337", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs759888337" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 352, "end_pos": 352, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "10", "chr_pos": "114473943", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S352", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1408488367", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1408488367" }, { "id": "rs1408488367", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1408488367" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 358, "end_pos": 358, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "10", "chr_pos": "114473925", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S358", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs748418244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748418244" }, { "id": "rs748418244", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748418244" }, { "id": "rs748418244", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748418244" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 363, "end_pos": 363, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->G).", "chr_id": "10", "chr_pos": "114473911", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S363", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1490193273", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1490193273" }, { "id": "rs1490193273", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1490193273#frequency_tab" }, { "id": "rs1490193273", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1490193273" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 451, "end_pos": 451, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->M).", "chr_id": "10", "chr_pos": "114465787", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T451", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752780587", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752780587" }, { "id": "rs752780587", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752780587" }, { "id": "rs752780587", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752780587" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 452, "end_pos": 452, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->N).", "chr_id": "10", "chr_pos": "114465784", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S452", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O14639", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14639" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 458, "end_pos": 458, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->F).", "chr_id": "10", "chr_pos": "114465766", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S458", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O14639", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14639" }, { "id": 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}, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to 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"DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1470493333", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1470493333" }, { "id": "rs1470493333", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1470493333#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 771, "end_pos": 771, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDM->NDT).", "chr_id": "10", "chr_pos": "114436285", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M771", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "95.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099204" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "98.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099204" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "98.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099204" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "94.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099204" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "97.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099204" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "96.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099204" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "95.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099204" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099204" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099204" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "97.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099204" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "95.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099204" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099204" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "95.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099204", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099204" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14639", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14639" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", 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"https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14639" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"url": "https://www.uniprot.org/uniprot/H0Y7N6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14639", "url": "https://www.uniprot.org/uniprot/O14639", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14639-1", "url": "https://www.uniprot.org/uniprot/O14639-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14639-2", "url": "https://www.uniprot.org/uniprot/O14639-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14639-3", "url": "https://www.uniprot.org/uniprot/O14639-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14639-4", "url": "https://www.uniprot.org/uniprot/O14639-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14639-5", "url": "https://www.uniprot.org/uniprot/O14639-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14639-6", "url": "https://www.uniprot.org/uniprot/O14639-6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPAFLGLKCLGKLCSSEKSKVTSSERTSARGSNRKRLIVEDRRVSGTSFTAHRRATITHLLYLCPKDYCPRGRVCNSVDPFVAHPQDPHHPSEKPVIHCHKCGEPCKGEVLRVQTKHFHIKCFTCKVCGCDLAQGGFFIKNGEYLCTLDYQRMYGTRCHGCGEFVEGEVVTALGKTYHPNCFACTICKRPFPPGDRVTFNGRDCLCQLCAQPMSSSPKETTFSSNCAGCGRDIKNGQALLALDKQWHLGCFKCKSCGKVLTGEYISKDGAPYCEKDYQGLFGVKCEACHQFITGKVLEAGDKHYHPSCARCSRCNQMFTEGEEMYLQGSTVWHPDCKQSTKTEEKLRPTRTSSESIYSRPGSSIPGSPGHTIYAKVDNEILDYKDLAAIPKVKAIYDIERPDLITYEPFYTSGYDDKQERQSLGESPRTLSPTPSAEGYQDVRDRMIHRSTSQGSINSPVYSRHSYTPTTSRSPQHFHRPGNEPSSGRNSPLPYRPDSRPLTPTYAQAPKHFHVPDQGINIYRKPPIYKQHAALAAQSKSSEDIIKFSKFPAAQAPDPSETPKIETDHWPGPPSFAVVGPDMKRRSSGREEDDEELLRRRQLQEEQLMKLNSGLGQLILKEEMEKESRERSSLLASRYDSPINSASHIPSSKTASLPGYGRNGLHRPVSTDFAQYNSYGDVSGGVRDYQTLPDGHMPAMRMDRGVSMPNMLEPKIFPYEMLMVTNRGRNKILREVDRTRLERHLAPEVFREIFGMSIQEFDRLPLWRRNDMKKKAKLF", "length": 778, "header": "sp|O14639-1|ABLM1_HUMAN Isoform 1 of Actin-binding LIM protein 1 OS=Homo sapiens OX=9606 GN=ABLIM1 PE=1 SV=3 CANONICAL=O14639-1" }, "isoforms": [ { "isoform_ac": "A0A3B3IS55-1", "url": "", "sequence": { "sequence": "MPAFLGLKCLGKLCSSEKSKVTSSERTSARGSNRKRLIVEDRRVSGTSFTAHRRATITHLLYLCPKDYCPRGRVCNSVDPFVAHPQDPHHPSEKPVIHCHKCGEPCKGEVLRVQTKHFHIKCFTCKVCGCDLAQGGFFIKNGEYLCTLDYQRMYGTRCHGCGEFVEGEVVTALGKTYHPNCFACTICKRPFPPGDRVTFNGRDCLCQLCAQPMSSSPKETTFSSNCAGCGRDIKNGQALLALDKQWHLGCFKCKSCGKVLTGEYISKDGAPYCEKDYQGLFGVKCEACHQFITGKVLEAGDKHYHPSCARCSRCNQMFTEGEEMYLQGSTVWHPDCKQSTKTEEKLRLLSPPCLVNFNKNPRQPTRTSSESIYSRPGSSIPGSPGHTIYAKVDNEILDYKDLAAIPKVKAIYDIERPDLITYEPFYTSGYDDKQERQSLGESPRTLSPTPSAEGYQDVRDRMIHRSTSQGSINSPVYSRHSYTPTTSRSPQHFHRPELLSPGVQRLSYLRTSSLSPTHSDSRPNPPFRHHFIPHIKGNEPSSGRNSPLPYRPDSRPLTPTYAQAPKHFHVPDQGINIYRKPPIYKQHAALAAQSKSSEDIIKFSKFPAAQAPDPSETPKIETDHWPGPPSFAVVGPDMKRRSSGREEDDEELLRRRQLQEEQLMKLNSGLGQLILKEEMEKESRERSSLLASRYDSPINSASHIPSSKTASLPGYGRNGLHRPVSTDFAQYNSYGDVSGGVRDYQTLPDGHMPAMRMDRGVSMPNMLEPKIFPYEMLMVTNRGRNKILREVDRTRLERHLAPEVFREIFGMSIQEFDRLPLWRRNDMKKKAKLF", "length": 834, "header": "tr|A0A3B3IS55-1|ABLM1_HUMAN Computationally mapped isoform of Actin-binding LIM protein 1 OS=Homo sapiens OX=9606 GN=ABLIM1 PE=1 SV=1 CANONICAL=O14639-1" }, "locus": { "chromosome": "10", "start_pos": 114658200, "end_pos": 114436263, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000649363.1", "url": "https://www.ensembl.org/id/ENST00000649363.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497150.1", "url": "https://www.ensembl.org/id/ENSP00000497150.1" } ] } }, { "isoform_ac": "A0A494C1P1-1", "url": "", "sequence": { "sequence": "MYGTRCHGCGEFVEGEVVTALGKTYHPNCFACTICKRPFPPGDRVTFNGRDCLCQLCAQPMSSSPKETTFSSNCAGCGRDIKNGQALLALDKQWHLGCFKCKSCGKVLTGEYISKDGAPYCEKDYQGLFGVKCEACHQFITGKVLEAGDKHYHPSCARCSRCNQMFTEGEEMYLQGSTVWHPDCKQSTKTEEKLRPTRTSSESIYSRPGSSIPGSPGHTIYAKVDNEILDYKDLAAIPKVKAIYDIERPDLITYEPFYTSGYDDKQERQSLGESPRTLSPTPSAEGYQDVRDRMIHRSTSQGSINSPVYSRHSYTPTTSRSPQHFHRPGNEPSSGRNSPLPYRPDSRPLTPTYAQAPKHFHVPDQGINIYRKPPIYKQHGPDMKRRSSGREEDDEELLRRRQLQEEQLMKLNSGLGQLILKEEMEK", "length": 426, "header": "tr|A0A494C1P1-1|ABLM1_HUMAN Computationally mapped isoform of Actin-binding LIM protein 1 OS=Homo sapiens OX=9606 GN=ABLIM1 PE=1 SV=1 CANONICAL=O14639-1" }, "locus": { "chromosome": "10", "start_pos": 114575522, "end_pos": 114444087, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000651092.1", "url": "https://www.ensembl.org/id/ENST00000651092.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000499163.1", "url": "https://www.ensembl.org/id/ENSP00000499163.1" } ] } }, { "isoform_ac": "A0A9L9PY99-1", "url": "", "sequence": { "sequence": "MVKEKVAHPQDPHHPSEKPVIHCHKCGEPCKGEVLRVQTKHFHIKCFTCKVCGCDLAQGGFFIKNGEYLCTLDYQRMYGTRCHGCGEFVEGEVVTALGKTYHPNCFACTICKRPFPPGDRVTFNGRDCLCQLCAQPMSSSPKETTFSSNCAGCGRDIKNGQALLALDKQWHLGCFKCKSCGKVLTGEYISKDGAPYCEKDYQGLFGVKCEACHQFITGKVLEAGDKHYHPSCARCSRCNQMFTEGEEMYLQGSTVWHPDCKQSTKTEEKLRPTRTSSESIYSRPGSSIPGSPGHTIYAKVDNEILDYKDLAAIPKVKAIYDIERPDLITYEPFYTSGYDDKQERQSLGESPRTLSPTPSAEGYQDVRDRMIHRSTSQGSINSPVYSRHSYTPTTSRSPQHFHRPDQGINIYRKPPIYKQHGPDMKRRSSGREEDDEELLRRRQLQEEQLMKLNSGLGQLILKEEMEKESRERSSLLASRYDSPINSASHIPSSKTASLPGYGRNGLHRPVSTDFAQYNSYGDVSGGVRDYQTLPDGHMPAMRMDRGVSMPNMLEPKIFPYEMLMVTNRGRNKILREVDRTRLERHLAPEVFREIFGMSIQEFDRLPLWRRNDMKKKAKLF", "length": 620, "header": "tr|A0A9L9PY99-1|ABLM1_HUMAN Computationally mapped isoform of Actin-binding LIM protein 1 OS=Homo sapiens OX=9606 GN=ABLIM1 PE=1 SV=1 CANONICAL=O14639-1" }, "locus": { "chromosome": "10", "start_pos": 114631917, "end_pos": 114436263, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000707119.1", "url": "https://www.ensembl.org/id/ENST00000707119.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516747.1", "url": "https://www.ensembl.org/id/ENSP00000516747.1" } ] } }, { "isoform_ac": "B7Z4H1-1", "url": "", "sequence": { "sequence": "MVKEKVAHPQDPHHPSEKPVIHCHKCGEPCKGEVLRVQTKHFHIKCFTCKVCGCDLAQGGFFIKNGEYLCTLDYQRMYGTRCHGCGEFVEGEVVTALGKTYHPNCFACTICKRPFPPGDRVTFNGRDCLCQLCAQPMSSSPKETTFSSNCAGCGRDIKNGQALLALDKQWHLGCFKCKSCGKVLTGEYISKDGAPYCEKDYQGLFGVKCEACHQFITGKVLEAGDKHYHPSCARCSRCNQMFTEGEEMYLQGSTVWHPDCKQSTKTEEKLRPTRTSSESIYSRPGSSIPGSPGHTIYAKVDNEILDYKDLAAIPKVKAIYDIERPDLITYEPFYTSGYDDKQERQSLGESPRTLSPTPSAEGYQDVRDRMIHRSTSQGSINSPVYSRHSYTPTTSRSPQHFHRPGNEPSSGRNSPLPYRPDSRPLTPTYAQAPKHFHVPDQGINIYRKPPIYKQHGPDMKRRSSGREEDDEELLRRRQLQEEQLMKLNSGLGQLILKEEMEKESRERSSLLASRYDSPINSASHIPSSKTASLPGYGRNGLHRPVSTDFAQYNSYGDVSGGVRDYQTLPDGHMPAMRMDRGVSMPNMLEPKIFPYEMLMVTNRGRNKILREVDRTRLERHLAPEVFREIFGMSIQEFDRLPLWRRNDMKKKAKLF", "length": 655, "header": "tr|B7Z4H1-1|ABLM1_HUMAN Computationally mapped isoform of Actin-binding LIM protein 1 OS=Homo sapiens OX=9606 GN=ABLIM1 PE=1 SV=1 CANONICAL=O14639-1" }, "locus": { "chromosome": "10", "start_pos": 114631917, "end_pos": 114436263, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000651023.2", "url": "https://www.ensembl.org/id/ENST00000651023.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000499023.2", "url": "https://www.ensembl.org/id/ENSP00000499023.2" } ] } }, { "isoform_ac": "F6XFR5-1", "url": "", "sequence": { "sequence": "MFTEGEEMYLQGSTVWHPDCKQSTKTEEKLRPTRTSSESIYSRPGSSIPGSPGHTIYAKVDNEILDYKDLAAIPKVKAIYDIERPDLITYEPFYTSGYDDKQERQSLGESPRTLSPTPSAEGYQDVRDRMIHRSTSQGSINSPVYSRHSYTPTTSRSPQHFHRPDQGINIYRK", "length": 173, "header": "tr|F6XFR5-1|ABLM1_HUMAN Computationally mapped isoform of Actin-binding LIM protein 1 OS=Homo sapiens OX=9606 GN=ABLIM1 PE=1 SV=1 CANONICAL=O14639-1" }, "locus": { "chromosome": "10", "start_pos": 114491824, "end_pos": 114451646, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000428430.1", "url": "https://www.ensembl.org/id/ENST00000428430.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000400934.1", "url": "https://www.ensembl.org/id/ENSP00000400934.1" } ] } }, { "isoform_ac": "F8W8M4-1", "url": "", "sequence": { "sequence": "MLMTLEMTELTDPHHTMGDYKVAHPQDPHHPSEKPVIHCHKCGEPCKGEVLRVQTKHFHIKCFTCKVCGCDLAQGGFFIKNGEYLCTLDYQRMYGTRCHGCGEFVEGEVVTALGKTYHPNCFACTICKRPFPPGDRVTFNGRDCLCQLCAQPMSSSPKETTFSSNCAGCGRDIKNGQALLALDKQWHLGCFKCKSCGKVLTGEYISKDGAPYCEKDYQGLFGVKCEACHQFITGKVLEAGDKHYHPSCARCSRCNQMFTEGEEMYLQGSTVWHPDCKQSTKTEEKLRPTRTSSESIYSRPGSSIPGSPGHTIYAKVDNEILDYKDLAAIPKVKAIYDIERPDLITYEPFYTSGYDDKQERQSLGESPRTLSPTPSAEGYQDVRDRMIHRSTSQGSINSPVYSRHSYTPTTSRSPQHFHRPGNEPSSGRNSPLPYRPDSRPLTPTYAQAPKHFHVPDQGINIYRKPPIYKQHAALAAQSKSSEDIIKFSKFPAAQAPDPSETPKIETDHWPGPPSFAVVGPDMKRRSSGREEDDEELLRRRQLQEEQLMKLNSGLGQLILKEEMEKESRERSSLLASRYDSPINSASHIPSSKTASLPGYGRNGLHRPVSTDFAQYNSYGDVSGGVRDFQTLPDGHMPAMRMDRGVSMPNMLEPKIFPYEMLMVTNRGRNKILREVDRTRLERHLAPEVFREIFGMSIQEFDRLPLWRRNDMKKKAKLF", "length": 718, "header": "tr|F8W8M4-1|ABLM1_HUMAN Computationally mapped isoform of Actin-binding LIM protein 1 OS=Homo sapiens OX=9606 GN=ABLIM1 PE=1 SV=1 CANONICAL=O14639-1" }, "locus": { "chromosome": "10", "start_pos": 114658200, "end_pos": 114436263, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533213", "url": "https://www.ensembl.org/id/ENST00000533213" }, { "database": "Ensembl Peptide", "id": "ENSP00000433629", "url": "https://www.ensembl.org/id/ENSP00000433629" } ] } }, { "isoform_ac": "H0Y7N6-1", "url": "", "sequence": { "sequence": "CKQSTKTEEKLRPTRTSSESIYSRPGSSIPGSPGHTIYAKVDNEILDYKDLAAIPKVKAIYDIERPDLITYEPFYTSGYDDKQERQSLGESPRTLSPTPSAEGYQDVRDRMIHRSTSQGSINSPVYSRHSYTPTTSRSPQHFHRPDQGINIYRKPPIYKQHVLFEVILLLLI", "length": 172, "header": "tr|H0Y7N6-1|ABLM1_HUMAN Computationally mapped isoform of Actin-binding LIM protein 1 OS=Homo sapiens OX=9606 GN=ABLIM1 PE=1 SV=1 CANONICAL=O14639-1" }, "locus": { "chromosome": "10", "start_pos": 114487993, "end_pos": 114450104, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000440467.5", "url": "https://www.ensembl.org/id/ENST00000440467.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000414154.1", "url": "https://www.ensembl.org/id/ENSP00000414154.1" } ] } }, { "isoform_ac": "O14639-1", "url": "", "sequence": { "sequence": "MPAFLGLKCLGKLCSSEKSKVTSSERTSARGSNRKRLIVEDRRVSGTSFTAHRRATITHLLYLCPKDYCPRGRVCNSVDPFVAHPQDPHHPSEKPVIHCHKCGEPCKGEVLRVQTKHFHIKCFTCKVCGCDLAQGGFFIKNGEYLCTLDYQRMYGTRCHGCGEFVEGEVVTALGKTYHPNCFACTICKRPFPPGDRVTFNGRDCLCQLCAQPMSSSPKETTFSSNCAGCGRDIKNGQALLALDKQWHLGCFKCKSCGKVLTGEYISKDGAPYCEKDYQGLFGVKCEACHQFITGKVLEAGDKHYHPSCARCSRCNQMFTEGEEMYLQGSTVWHPDCKQSTKTEEKLRPTRTSSESIYSRPGSSIPGSPGHTIYAKVDNEILDYKDLAAIPKVKAIYDIERPDLITYEPFYTSGYDDKQERQSLGESPRTLSPTPSAEGYQDVRDRMIHRSTSQGSINSPVYSRHSYTPTTSRSPQHFHRPGNEPSSGRNSPLPYRPDSRPLTPTYAQAPKHFHVPDQGINIYRKPPIYKQHAALAAQSKSSEDIIKFSKFPAAQAPDPSETPKIETDHWPGPPSFAVVGPDMKRRSSGREEDDEELLRRRQLQEEQLMKLNSGLGQLILKEEMEKESRERSSLLASRYDSPINSASHIPSSKTASLPGYGRNGLHRPVSTDFAQYNSYGDVSGGVRDYQTLPDGHMPAMRMDRGVSMPNMLEPKIFPYEMLMVTNRGRNKILREVDRTRLERHLAPEVFREIFGMSIQEFDRLPLWRRNDMKKKAKLF", "length": 778, "header": "sp|O14639-1|ABLM1_HUMAN Isoform 1 of Actin-binding LIM protein 1 OS=Homo sapiens OX=9606 GN=ABLIM1 PE=1 SV=3 CANONICAL=O14639-1" }, "locus": {} }, { "isoform_ac": "O14639-2", "url": "", "sequence": { "sequence": "MLMTLEMTELTDPHHTMGDYKVAHPQDPHHPSEKPVIHCHKCGEPCKGEVLRVQTKHFHIKCFTCKVCGCDLAQGGFFIKNGEYLCTLDYQRMYGTRCHGCGEFVEGEVVTALGKTYHPNCFACTICKRPFPPGDRVTFNGRDCLCQLCAQPMSSSPKETTFSSNCAGCGRDIKNGQALLALDKQWHLGCFKCKSCGKVLTGEYISKDGAPYCEKDYQGLFGVKCEACHQFITGKVLEAGDKHYHPSCARCSRCNQMFTEGEEMYLQGSTVWHPDCKQSTKTEEKLRPTRTSSESIYSRPGSSIPGSPGHTIYAKVDNEILDYKDLAAIPKVKAIYDIERPDLITYEPFYTSGYDDKQERQSLGESPRTLSPTPSAEGYQDVRDRMIHRSTSQGSINSPVYSRHSYTPTTSRSPQHFHRPGNEPSSGRNSPLPYRPDSRPLTPTYAQAPKHFHVPDQGINIYRKPPIYKQHAALAAQSKSSEDIIKFSKFPAAQAPDPSETPKIETDHWPGPPSFAVVGPDMKRRSSGREEDDEELLRRRQLQEEQLMKLNSGLGQLILKEEMEKESRERSSLLASRYDSPINSASHIPSSKTASLPGYGRNGLHRPVSTDFAQYNSYGDVSGGVRDYQTLPDGHMPAMRMDRGVSMPNMLEPKIFPYEMLMVTNRGRNKILREVDRTRLERHLAPEVFREIFGMSIQEFDRLPLWRRNDMKKKAKLF", "length": 718, "header": "sp|O14639-2|ABLM1_HUMAN Isoform 2 of Actin-binding LIM protein 1 OS=Homo sapiens OX=9606 GN=ABLIM1 PE=1 SV=3 CANONICAL=O14639-1" }, "locus": { "chromosome": "10", "start_pos": 114684353, "end_pos": 114436263, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000392955.7", "url": "https://www.ensembl.org/id/ENST00000392955.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000376682.4", "url": "https://www.ensembl.org/id/ENSP00000376682.4" } ] } }, { "isoform_ac": "O14639-3", "url": "", "sequence": { "sequence": "MFTEGEEMYLQGSTVWHPDCKQSTKTEEKLRPTRTSSESIYSRPGSSIPGSPGHTIYAKVDNEILDYKDLAAIPKVKAIYDIERPDLITYEPFYTSGYDDKQERQSLGESPRTLSPTPSAEGYQDVRDRMIHRSTSQGSINSPVYSRHSYTPTTSRSPQHFHRPDQGINIYRKPPIYKQHAALAAQSKSSEDIIKFSKFPAAQAPDPSETPKIETDHWPGPPSFAVVGPDMKRRSSGREEDDEELLRRRQLQEEQLMKLNSGLGQLILKEEMEKESRERSSLLASRYDSPINSASHIPSSKTASLPGYGRNGLHRPVSTDFAQYNSYGDVSGGVRDYQTLPDGHMPAMRMDRGVSMPNMLEPKIFPYEMLMVTNRGRNKILREVDRTRLERHLAPEVFREIFGMSIQEFDRLPLWRRNDMKKKAKLF", "length": 427, "header": "sp|O14639-3|ABLM1_HUMAN Isoform 3 of Actin-binding LIM protein 1 OS=Homo sapiens OX=9606 GN=ABLIM1 PE=1 SV=3 CANONICAL=O14639-1" }, "locus": {} }, { "isoform_ac": "O14639-4", "url": "", "sequence": { "sequence": "MFTEGEEMYLQGSTVWHPDCKQSTKTEEKLRAKVDNEILDYKDLAAIPKVKAIYDIERPDLITYEPFYTSGYDDKQERQSLGESPRTLSPTPSAEGYQDVRDRMIHRSTSQGSINSPVYSRHSYTPTTSRSPQHFHRPDQGINIYRKPPIYKQHAALAAQSKSSEDIIKFSKFPAAQAPDPSETPKIETDHWPGPPSFAVVGPDMKRRSSGREEDDEELLRRRQLQEEQLMKLNSGLGQLILKEEMEKESRERSSLLASRYDSPINSASHIPSSKTASLPGYGRNGLHRPVSTDFAQYNSYGDVSGGVRDYQTLPDGHMPAMRMDRGVSMPNMLEPKIFPYEMLMVTNRGRNKILREVDRTRLERHLAPEVFREIFGMSIQEFDRLPLWRRNDMKKKAKLF", "length": 401, "header": "sp|O14639-4|ABLM1_HUMAN Isoform 4 of Actin-binding LIM protein 1 OS=Homo sapiens OX=9606 GN=ABLIM1 PE=1 SV=3 CANONICAL=O14639-1" }, "locus": { "chromosome": "10", "start_pos": 114491824, "end_pos": 114436263, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000369253.6", "url": "https://www.ensembl.org/id/ENST00000369253.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000358257.2", "url": "https://www.ensembl.org/id/ENSP00000358257.2" } ] } }, { "isoform_ac": "O14639-5", "url": "", "sequence": { "sequence": "MFTEGEEMYLQGSTVWHPDCKQSTKTEEKLRLPNIRRSSSDFFYSKSLIRRTGRSPSLQPTRTSSESIYSRPGSSIPGSPGHTIYAKVDNEILDYKDLAAIPKVKAIYDIERPDLITYEPFYTSGYDDKQERQSLGESPRTLSPTPSAEGYQDVRDRMIHRSTSQGSINSPVYSRHSYTPTTSRSPQHFHRPDQGINIYRKPPIYKQHAALAAQSKSSEDIIKFSKFPAAQAPDPSETPKIETDHWPGPPSFAVVGPDMKRRSSGREEDDEELLRRRQLQEEQLMKLNSGLGQLILKEEMEKESRERSSLLASRYDSPINSASHIPSSKTASLPGYGRNGLHRPVSTDFAQYNSYGDVSGGVRDYQTLPDGHMPAMRMDRGVSMPNMLEPKIFPYEMLMVTNRGRNKILREVDRTRLERHLAPEVFREIFGMSIQEFDRLPLWRRNDMKKKAKLF", "length": 455, "header": "sp|O14639-5|ABLM1_HUMAN Isoform 5 of Actin-binding LIM protein 1 OS=Homo sapiens OX=9606 GN=ABLIM1 PE=1 SV=3 CANONICAL=O14639-1" }, "locus": { "chromosome": "10", "start_pos": 114491824, "end_pos": 114436263, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000392952.7", "url": "https://www.ensembl.org/id/ENST00000392952.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000376679.3", "url": "https://www.ensembl.org/id/ENSP00000376679.3" } ] } }, { "isoform_ac": "O14639-6", "url": "", "sequence": { "sequence": "MLMTLEMTELTDPHHTMGDYKVAHPQDPHHPSEKPVIHCHKCGEPCKGEVLRVQTKHFHIKCFTCKVCGCDLAQGGFFIKNGEYLCTLDYQRMYGTRCHGCGEFVEGEVVTALGKTYHPNCFACTICKRPFPPGDRVTFNGRDCLCQLCAQPMSSSPKETTFSSNCAGCGRDIKNGQALLALDKQWHLGCFKCKSCGKVLTGEYISKDGAPYCEKDYQGLFGVKCEACHQFITGKVLEAGDKHYHPSCARCSRCNQMFTEGEEMYLQGSTVWHPDCKQSTKTEEKLRLPNIRRSSSDFFYSKSLIRRTGRSPSLQPTRTSSESIYSRPGSSIPGSPGHTIYAKVDNEILDYKDLAAIPKVKAIYDIERPDLITYEPFYTSGYDDKQERQSLGESPRTLSPTPSAEGYQDVRDRMIHRSTSQGSINSPVYSRHSYTPTTSRSPQHFHRPGNEPSSGRNSPLPYRPDSRPLTPTYAQAPKHFHVPDQGINIYRKPPIYKQHDAAALAAQSKSSEDIIKFSKFPAAQAPDPSETPKIETDHWPGPPSFAVVGPDMKRRSSGREEDDEELLRRRQLQEEQLMKLNSGLGQLILKEEMEKESRERSSLLASRYDSPINSASHIPSSKTASLPGYGRNGLHRPVSTDFAQYNSYGDVSGGVRDYQTLPDGHMPAMRMDRGVSMPNMLEPKIFPYEMLMVTNRGRNKILREVDRTRLERHLAPEVFREIFGMSIQEFDRLPLWRRNDMKKKAKLF", "length": 748, "header": "sp|O14639-6|ABLM1_HUMAN Isoform 6 of Actin-binding LIM protein 1 OS=Homo sapiens OX=9606 GN=ABLIM1 PE=1 SV=3 CANONICAL=O14639-1" }, "locus": { "chromosome": "10", "start_pos": 114684353, "end_pos": 114436263, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000369256.6", "url": "https://www.ensembl.org/id/ENST00000369256.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000358260.3", "url": "https://www.ensembl.org/id/ENSP00000358260.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 351, "start_aa": "Thr", "end_pos": 351, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr351", "evidence": [ { "id": "O14639", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14639" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "35254053", "database": "PubMed", 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"PubMed", "url": "https://glygen.org/publication/PubMed/20068230" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 352, "start_aa": "Ser", "end_pos": 352, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser352", "evidence": [ { "id": "O14639", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14639" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "28580691", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28580691" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "O14639", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O14639" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 358, "start_aa": "Ser", "end_pos": 358, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser358", "evidence": [ { "id": "O14639", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14639" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "28580691", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28580691" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "29485866", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29485866" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "O14639", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O14639" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 362, "start_aa": "Ser", "end_pos": 362, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser362", "evidence": [ { "id": "O14639", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14639" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "28580691", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28580691" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "31492838", "database": "PubMed", "url": 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"https://glygen.org/publication/PubMed/29485866" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "28657654", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28657654" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "20068230", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20068230" }, { "id": "O14639", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O14639" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 371, "start_aa": "Thr", "end_pos": 371, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr371", "evidence": [ { "id": "O14639", 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"RefSeq", "id": "NP_001003407", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003407" } ], "reference": [ { "type": "PubMed", "id": "36583064", "url": "https://glygen.org/publication/PubMed/36583064" } ] }, { "title": "`Two Birds One Stone` Strategy for the Site-Specific Analysis of Core Fucosylation and O-GlcNAcylation.", "journal": "Journal of the American Chemical Society", "date": "2023-07-26", "authors": "Luo Yawen, Wang Yuqiu, Tian Yinping, Zhou Hu, Wen Liuqing", "evidence": [ { "database": "O-GlcNAc Database", "id": "O14639", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14639" } ], "reference": [ { "type": "PubMed", "id": "37340703", "url": "https://glygen.org/publication/PubMed/37340703" } ] }, { "title": "Glycosylation of mammalian neurofilaments. Localization of multiple O-linked N-acetylglucosamine moieties on neurofilament polypeptides L and M.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Dong DL, Xu ZS, Chevrier MR, Cotter RJ, Cleveland DW, Hart GW", "evidence": [ { "database": "GlyConnect", "id": "2904", "url": "https://glyconnect.expasy.org/browser/proteins/2904" } ], "reference": [ { "type": "PubMed", "id": "8344946", "url": "https://glygen.org/publication/PubMed/8344946" } ] }, { "title": "Molecular characterization of abLIM, a novel actin-binding and double zinc finger protein.", "journal": "The Journal of cell biology", "date": "1997-08-11", "authors": "Roof D J, Hayes A, Adamian M, Chishti A H, Li T", "evidence": [ { "database": "UniProtKB", "id": "O14639", "url": "https://www.uniprot.org/uniprot/O14639" } ], "reference": [ { "type": "PubMed", "id": "9245787", "url": "https://glygen.org/publication/PubMed/9245787" } ] }, { "title": "Netrin-1: interaction with deleted in colorectal cancer (DCC) and alterations in brain tumors and neuroblastomas.", "journal": "Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research", "date": "1999", "authors": "Meyerhardt JA, Caca K, Eckstrand BC, Hu G, Lengauer C, Banavali S, Look AT, Fearon ER", "evidence": [ { "database": "Reactome", "id": "R-HSA-418885", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418885" } ], "reference": [ { "type": "PubMed", "id": "9950216", "url": "https://glygen.org/publication/PubMed/9950216" } ] } ], "pathway": [ { "id": "hsa:3983", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3983", "resource": "KEGG Pathway" }, { "id": "R-HSA-418885", "name": "DCC mediated attractive signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418885", "resource": "Reactome", "description": "DCC mediated attractive signaling" } ], "orthologs": [ { "uniprot_canonical_ac": "Q8K4G5-1", "protein_name": "Actin-binding LIM protein 1", "gene_name": "Ablim1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPSLLGLKCLGKLCSSEIGKVPSPERASLRNSHRRLLIEDLSVPETPDPAHRRRGTVIHLVYLYSAGCGPPELRFSSYDPSVAHPQDPHHSSEKPVIHCHKCGEPCKGEVLRVQTKHFHIKCFTCKVCGCDLAQGGFFIKNGDYLCTLDYQRMYGTRCHGCGEFVEGEVVTALGKTYHPNCFACTICKRPFPPGDRVTFNGRDCLCQLCAQPMSSSPKEASCSSNCAGCGRDIKNGQALLALDKQWHLGCFKCKSCGKVLTGEYISKDGSPYCEKDYQGLFGVKCEACHQFITGKVLEAGDKHYHPSCARCSRCNQMFTEGEEMYLQGSTVWHPDCKQSTKTEEKLRPPNIPRSSSDFFYPKSLIRRTGRSPALQLLSPPCLTNSNKNPRQPTRTSSESIYSRPGSSIPGSPGHTIYAKVDNEILDYKDLAAIPKVKAIYDIERPDLITYEPFYTSGYEDKQERQSLGESPRTLSPTPSAEGYQDVRDRMIHRSTSQGSINSPVYSRHSYTPTTSRSPQHFHRPELLSPGVHRWSPLRTSSFSSTHSDSRPNPPFRHHFLPHVKGNEPSSGRNSPLPYRPDSRPLTPTYAQAPKHFHVPDQGINIYRKPPIYKQHAALAAQSKASEDIIKFSKFPAAQAPDPNEIPKIETDHWPGPPSLAAVGTDPRRRSSGREEDEEELLRRRQLQEEQLMKLNSGLGQLILKEEMEKESRERASLASRYDSPLHSASHAPSSKTSSLPGYGKNGLHRPVSTDFAQYNSYGDISGGVRDYQTLPDGHMPAVRMDRGVSMPNMLEPKIFPYEMLMVTNRGRNKILRDVDRTRLERHLAPEVFWEIFGMSIQEFDKLPLWRRNDMKKKAKLF", "length": 861 }, 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"https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "O14639", "url": "https://www.uniprot.org/uniprot/O14639" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 351, 352, 358, 362, 363, 371, 429, 450, 451, 452, 455, 458, 462, 465, 471, 651, 677, 682 ], "snv_sites": [ 73, 221, 349, 351, 352, 358, 363, 451, 452, 458, 459, 462, 465, 471, 484, 491, 651, 677, 680, 736, 771 ], "glycation_sites": [], "phosphorylation_sites": [ 214, 215, 216, 352, 353, 355, 357, 362, 363, 367, 373, 396, 406, 410, 414, 422, 426, 429, 431, 433, 435, 439, 450, 451, 452, 455, 458, 461, 498, 586, 587, 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