{ "uniprot_canonical_ac": "A6NCF5-1", "ptm_annotation": [], "sequence": { "header": "sp|A6NCF5-1|KLH33_HUMAN Isoform 1 of Kelch-like protein 33 OS=Homo sapiens OX=9606 GN=KLHL33 PE=4 SV=2 CANONICAL=A6NCF5-1", "length": 533, "sequence": "MLLSGMRESQGTEVSLRTISTQDLRLLVSFAYSGVVRARWPGLLRAAQAALQYQSSSCLDLCQKGLARGLSPARCLALFPMAEAPGLERLWSKARHYLLTHLPAVALCPAFPSLPAACLAELLDSDELHVQEEFEAFVAARCWLAANPETQESEAKALLRCVRFGRMSTRELRRVRAAGLLPPLTPDLLHQLMVEADVPGQERRREPDRALVVIGGDGLRPDMALRQPSRAVWWARAFRCGVGLVRTVEWGQLPALPAPGRFRHGAASLAGSELYVCGGQDFYSHSNTLASTLRWEPSQEDWEEMAPLSQARSLFSLVALDGKLYALGGRHNDVALDSVETYNPELNVWRPAPALPAPCFAHAAAILEGQLYVSGGCGGTGQYLASLMHYDPKLEKPGTFLSPMGVPRAGHVMAALGGRLYVAGGLGETEDLLSFEAYELRTDSWTHLAPLPSPHVGAASAVLQGELLVLGGYSHRTYALSHLIHAYCPGLGRWLCLGTLPRPRAEMPACILTLPAVQHIALVPTPHQTKPAG" }, "uniprot_id": "KLH33_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NCF5", "id": "A6NCF5", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16368877", "type": [ "PubMed" ], "id": "16368877" } ], "title": "Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes.", "journal": "Physiological genomics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103467.2", "id": "NP_001103467.2", "database": "RefSeq" } ], "authors": "Choy KW, Wang CC, Ogura A, Lau TK, Rogers MS, Ikeo K, Gojobori T, Lam DS, Pang CP", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23676014", "type": [ "PubMed" ], "id": "23676014" } ], "title": "Update on the Kelch-like (KLHL) gene family.", "journal": "Human genomics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103467.2", "id": "NP_001103467.2", "database": "RefSeq" } ], "authors": "Dhanoa BS, Cogliati T, Satish AG, Bruford EA, Friedman JS", "date": "2013" } ], "uniprot_ac": "A6NCF5", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A6NCF5#A0A1B0GTK0-1", "isoform_ac": "A0A1B0GTK0-1", "locus": { "end_pos": 20429405, "strand": "+", "start_pos": 20435811, "chromosome": "14", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000637228", "id": "ENST00000637228", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000489731", "id": "ENSP00000489731", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A1B0GTK0-1|KLH33_HUMAN Computationally mapped isoform of Kelch-like protein 33 OS=Homo sapiens OX=9606 GN=KLHL33 PE=4 SV=1 CANONICAL=A6NCF5-1", "length": 623, "sequence": "MSVSDTPHYPPELESVSHPVQRDCLGLLVHAQRTPSWPPSPDEDPRLPSFPLEEPGSRPLVPRNLPFPALSLEEEEEEEEDEDAAEPEWLRSEEHPSQFFAEAQRLREQRLLLDEEVSVAGRVYGVHRVILAAISSLFRDRLLGGGGPRPPFSLEVSPGGWEAVLTFAYEGVLGPASQGDVLAAAEALGAPRVKAAAQQTCERAGNAREDVKKPSQAEELRENLRGIELLYREGVGCDLKLEAGGCQLSVHRAALACGSEFFGAMLLSGMRESQGTEVSLRTISTQDLRLLVSFAYSGVVRARWPGLLRAAQAALQYQSSSCLDLCQKGLARGLSPARCLALFPMAEAPGLERLWSKARHYLLTHLPAVALCPAFPSLPAACLAELLDSDELHVQEEFEAFVAARCWLAANPETQESEAKALLRCVRFGRMSTRELRRVRAAGLLPPLTPDLLHQLMVEADVPGQERRREPDRALVVIGGDGLRPDMALRQPSRAVWWARAFRCGVGLVRTVEWGQLPALPAPGRFRHGAASLAGSELYVCGGQDFYSHSNTLASTLRWEPSQEDWEEMAPLSQARSLFSLVALDGKLYALGGRHNDVALDSVETYNPELNVWSCLILCPVLP" } }, { "url": "https://www.uniprot.org/uniprot/A6NCF5#A0A1B0GUB7-1", "isoform_ac": "A0A1B0GUB7-1", "locus": { "end_pos": 20428852, "strand": "+", "start_pos": 20435811, "chromosome": "14", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000636854", "id": "ENST00000636854", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000490040", "id": "ENSP00000490040", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A1B0GUB7-1|KLH33_HUMAN Computationally mapped isoform of Kelch-like protein 33 OS=Homo sapiens OX=9606 GN=KLHL33 PE=4 SV=1 CANONICAL=A6NCF5-1", "length": 797, "sequence": "MSVSDTPHYPPELESVSHPVQRDCLGLLVHAQRTPSWPPSPDEDPRLPSFPLEEPGSRPLVPRNLPFPALSLEEEEEEEEDEDAAEPEWLRSEEHPSQFFAEAQRLREQRLLLDEEVSVAGRVYGVHRVILAAISSLFRDRLLGGGGPRPPFSLEVSPGGWEAVLTFAYEGVLGPASQGDVLAAAEALGAPRVKAAAQQTCERAGNAREDVKKPSQAEELRENLRGIELLYREGVGCDLKLEAGGCQLSVHRAALACGSEFFGAMLLSGMRESQGTEVSLRTISTQDLRLLVSFAYSGVVRARWPGLLRAAQAALQYQSSSCLDLCQKGLARGLSPARCLALFPMAEAPGLERLWSKARHYLLTHLPAVALCPAFPSLPAACLAELLDSDELHVQEEFEAFVAARCWLAANPETQESEAKALLRCVRFGRMSTRELRRVRAAGLLPPLTPDLLHQLMVEADVPGQERRREPDRALVVIGGDGLRPDMALRQPSRAVWWARAFRCGVGLVRTVEWGQLPALPAPGRFRHGAASLAGSELYVCGGQDFYSHSNTLASTLRWEPSQEDWEEMAPLSQARSLFSLVALDGKLYALGGRHNDVALDSVETYNPELNVWRPAPALPAPCFAHAAAILEGQLYVSGGCGGTGQYLASLMHYDPKLEKPGTFLSPMGVPRAGHVMAALGGRLYVAGGLGETEDLLSFEAYELRTDSWTHLAPLPSPHVGAASAVLQGELLVLGGYSHRTYALSHLIHAYCPGLGRWLCLGTLPRPRAEMPACILTLPAVQHIALVPTPHQTKPAG" } }, { "url": "https://www.uniprot.org/uniprot/A6NCF5#A6NCF5-1", "isoform_ac": "A6NCF5-1", "locus": { "end_pos": 20428852, "strand": "+", "start_pos": 20430675, "chromosome": "14", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000344581", "id": "ENST00000344581", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000341549", "id": "ENSP00000341549", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A6NCF5-1|KLH33_HUMAN Isoform 1 of Kelch-like protein 33 OS=Homo sapiens OX=9606 GN=KLHL33 PE=4 SV=2 CANONICAL=A6NCF5-1", "length": 533, "sequence": "MLLSGMRESQGTEVSLRTISTQDLRLLVSFAYSGVVRARWPGLLRAAQAALQYQSSSCLDLCQKGLARGLSPARCLALFPMAEAPGLERLWSKARHYLLTHLPAVALCPAFPSLPAACLAELLDSDELHVQEEFEAFVAARCWLAANPETQESEAKALLRCVRFGRMSTRELRRVRAAGLLPPLTPDLLHQLMVEADVPGQERRREPDRALVVIGGDGLRPDMALRQPSRAVWWARAFRCGVGLVRTVEWGQLPALPAPGRFRHGAASLAGSELYVCGGQDFYSHSNTLASTLRWEPSQEDWEEMAPLSQARSLFSLVALDGKLYALGGRHNDVALDSVETYNPELNVWRPAPALPAPCFAHAAAILEGQLYVSGGCGGTGQYLASLMHYDPKLEKPGTFLSPMGVPRAGHVMAALGGRLYVAGGLGETEDLLSFEAYELRTDSWTHLAPLPSPHVGAASAVLQGELLVLGGYSHRTYALSHLIHAYCPGLGRWLCLGTLPRPRAEMPACILTLPAVQHIALVPTPHQTKPAG" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:123103", "resource": "KEGG Pathway", "id": "hsa:123103", "name": "" } ], "function": [], "orthologs": [], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "E", "start_pos": 345, "alt_nt": "C", "chr_id": "14", "ref_nt": "T", "chr_pos": "20897676", "disease": [ { "synonyms": [ { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "primary breast cancer", "description": "" } ], "recommended_name": { "id": "DOID:1612", "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCF5", "id": "A6NCF5", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "G", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 345, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "Y", "start_pos": 372, "alt_nt": "T", "chr_id": "14", "ref_nt": "G", "chr_pos": "20897494", "disease": [ { "synonyms": [ { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "tumor of the Ovary", "description": "" } ], "recommended_name": { "id": "DOID:2394", "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCF5", "id": "A6NCF5", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "*", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "end_pos": 372, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "H", "start_pos": 455, "alt_nt": "A", "chr_id": "14", "ref_nt": "G", "chr_pos": "20897247", "disease": [ { "synonyms": [ { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "tumor of head and neck", "description": "" } ], "recommended_name": { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCF5", "id": "A6NCF5", "database": "BioMuta" } ], "frequency": "2.3", "sequence_mut": "Y", "subjects_tested": "44", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.3%).", "end_pos": 455, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "A", "start_pos": 50, "alt_nt": "T", "chr_id": "14", "ref_nt": "C", "chr_pos": "20898687", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCF5", "id": "A6NCF5", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "T", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 50, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "A", "start_pos": 516, "alt_nt": "T", "chr_id": "14", "ref_nt": "C", "chr_pos": "20897064", "disease": [ { "synonyms": [ { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "malignant hematopoietic neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCF5", "id": "A6NCF5", "database": "BioMuta" } ], "frequency": "4.2", "sequence_mut": "T", "subjects_tested": "48", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (4.2%).", "end_pos": 516, "minor_allelic_frequency": "", "subjects_positive": "2" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103467.2", "ac": "NP_001103467.2", "name": "kelch-like protein 33 isoform 2", "summary": "" }, "go_annotation": {}, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A6NCF5", "type": "synonym", "resource": "RefSeq", "name": "KLHL33" }, { "url": "https://www.uniprot.org/uniprot/A6NCF5", "type": "recommended", "resource": "UniProtKB", "name": "KLHL33" } ], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185271", "id": "ENSG00000185271", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NCF5", "id": "A6NCF5", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHL33", "id": "KLHL33", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/123103", "id": "123103", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=31952", "id": "31952", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A6NCF5*", "id": "A6NCF5", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR006652", "id": "IPR006652", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011333", "id": "IPR011333", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011705", "id": "IPR011705", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR015915", "id": "IPR015915", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR017096", "id": "IPR017096", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR030609", "id": "IPR030609", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:123103", "id": "hsa:123103", "database": "KEGG Pathway" }, { "url": "https://www.nextprot.org/entry/NX_A6NCF5", "id": "NX_A6NCF5", "database": "neXtProt" }, { "url": "http://www.orthodb.org/?query=332114at2759", "id": "332114at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45632:SF14", "id": "PTHR45632:SF14", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF01344", "id": "PF01344", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF07707", "id": "PF07707", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A6NCF5", "id": "A6NCF5", "database": "PHAROS" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A6NCF5", "id": "PR_A6NCF5", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103467.2", "id": "NP_001103467.2", "database": "RefSeq" } ], "expression_disease": [ { "name": "Prostate cancer [DO 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