{ "uniprot_canonical_ac": "A0PJW8-1", "ptm_annotation": [], "sequence": { "header": "sp|A0PJW8-1|DAPL1_HUMAN Isoform 1 of Death-associated protein-like 1 OS=Homo sapiens OX=9606 GN=DAPL1 PE=1 SV=2 CANONICAL=A0PJW8-1", "length": 107, "sequence": "MANEVQDLLSPRKGGHPPAVKAGGMRISKKQEIGTLERHTKKTGFEKTSAIANVAKIQTLDALNDALEKLNYKFPATVHMAHQKPTPALEKVVPLKRIYIIQQPRKC" }, "uniprot_id": "DAPL1_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJW8", "id": "A0PJW8", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12107413", "type": [ "PubMed" ], "id": "12107413" } ], "title": "Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants.", "journal": "Molecular vision", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017920.2", "id": "NP_001017920.2", "database": "RefSeq" } ], "authors": "Wistow G, Bernstein SL, Wyatt MK, Behal A, Touchman JW, Bouffard G, Smith D, Peterson K", "date": "2002" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/15920738", "type": [ "PubMed" ], "id": "15920738" } ], "title": "EEDA: a protein associated with an early stage of stratified epithelial differentiation.", "journal": "J. Cell. Physiol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJW8", "id": "A0PJW8", "database": "UniProtKB" } ], "authors": "Sun L., Zhou M., Lavker R.M., Ryan D.G., Sun T.-T.", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20800603", "type": [ "PubMed" ], "id": "20800603" } ], "title": "Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.", "journal": "Mutation research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017920.2", "id": "NP_001017920.2", "database": "RefSeq" } ], "authors": "Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanche H, Schreiber S, Nebel A", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25680934", "type": [ "PubMed" ], "id": "25680934" } ], "title": "A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD).", "journal": "Neuromolecular medicine", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017920.2", "id": "NP_001017920.2", "database": "RefSeq" } ], "authors": "Grassmann F, Friedrich U, Fauser S, Schick T, Milenkovic A, Schulz HL, von Strachwitz CN, Bettecken T, Lichtner P, Meitinger T, Arend N, Wolf A, Haritoglou C, Rudolph G, Chakravarthy U, Silvestri G, McKay GJ, Freitag-Wolf S, Krawczak M, Smith RT, Merriam JC, Merriam JE, Allikmets R, Heid IM, Weber BH", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28334846", "type": [ "PubMed" ], "id": "28334846" } ], "title": "DAPL1, a susceptibility locus for age-related macular degeneration, acts as a novel suppressor of cell proliferation in the retinal pigment epithelium.", "journal": "Human molecular genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017920.2", "id": "NP_001017920.2", "database": "RefSeq" } ], "authors": "Ma X, Li H, Wang Y, Wang J, Zheng Q, Hua J, Yang J, Pan L, Lu F, Qu J, Hou L", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29171181", "type": [ "PubMed" ], "id": "29171181" } ], "title": "Regulation of cell proliferation in the retinal pigment epithelium: Differential regulation of the death-associated protein like-1 DAPL1 by alternative MITF splice forms.", "journal": "Pigment cell & melanoma research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017920.2", "id": "NP_001017920.2", "database": "RefSeq" } ], "authors": "Ma X, Hua J, Zheng G, Li F, Rao C, Li H, Wang J, Pan L, Hou L", "date": "2018" } ], "uniprot_ac": "A0PJW8", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0PJW8#A0PJW8-1", "isoform_ac": "A0PJW8-1", "locus": { "end_pos": 158795373, "strand": "-", "start_pos": 158815818, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000309950", "id": "ENST00000309950", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000309538", "id": "ENSP00000309538", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0PJW8-1|DAPL1_HUMAN Isoform 1 of Death-associated protein-like 1 OS=Homo sapiens OX=9606 GN=DAPL1 PE=1 SV=2 CANONICAL=A0PJW8-1", "length": 107, "sequence": "MANEVQDLLSPRKGGHPPAVKAGGMRISKKQEIGTLERHTKKTGFEKTSAIANVAKIQTLDALNDALEKLNYKFPATVHMAHQKPTPALEKVVPLKRIYIIQQPRKC" } }, { "url": "https://www.uniprot.org/uniprot/A0PJW8#B8ZZC6-1", "isoform_ac": "B8ZZC6-1", "locus": { "end_pos": 158795373, "strand": "-", "start_pos": 158853633, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000409042", "id": "ENST00000409042", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000386422", "id": "ENSP00000386422", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|B8ZZC6-1|DAPL1_HUMAN Computationally mapped isoform of Death-associated protein-like 1 OS=Homo sapiens OX=9606 GN=DAPL1 PE=1 SV=1 CANONICAL=A0PJW8-1", "length": 113, "sequence": "MANEVQDLLSPRKGGHPPAVKAGGMRISKKQEIGTLERHTKKTGFEKTSAIANVAKIQTLDALNDALEKEQVQLGVRNERQVQPFHHGCSWKETSGFDTRCPRHTEPRNLTGV" } }, { "url": "https://www.uniprot.org/uniprot/A0PJW8#H0Y3U5-1", "isoform_ac": "H0Y3U5-1", "locus": { "end_pos": 158804298, "strand": "-", "start_pos": 158862705, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000343761", "id": "ENST00000343761", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000385306", "id": "ENSP00000385306", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y3U5-1|DAPL1_HUMAN Computationally mapped isoform of Death-associated protein-like 1 OS=Homo sapiens OX=9606 GN=DAPL1 PE=1 SV=1 CANONICAL=A0PJW8-1", "length": 174, "sequence": "XRISKKQEIGTLERHTKKTGFEKTSAIANVAKIQTLDALNDALEKEQVQLGVRNERQVQPFHHGCSWKETSGFDTSSEDPERLFLSMCLVTVLGNLLIILAVTPDSHLHIPMYFFLSNLSLPDIGFTSTTVPKMIVDIQSHSRVISYAGCLTQMSLFAIFGGMEERHAPECDGL" } }, { "url": "https://www.uniprot.org/uniprot/A0PJW8#M1EA23-1", "isoform_ac": "M1EA23-1", "locus": { "end_pos": 158795373, "strand": "-", "start_pos": 158815780, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000621326", "id": "ENST00000621326", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000479872", "id": "ENSP00000479872", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|M1EA23-1|DAPL1_HUMAN Computationally mapped isoform of Death-associated protein-like 1 OS=Homo sapiens OX=9606 GN=DAPL1 PE=1 SV=1 CANONICAL=A0PJW8-1", "length": 134, "sequence": "MANEVQDLLSPRKGGHPPAVKAGGMRISKKQEIGTLERHTKKTGFEKTSAIANVAKIQTLDALNDALEKSFALFAQAGKQWSDLSSLQPPPPGFKWFSCLSLPSSWDYSSTINFQQQCTWRIKNPHLLWKRLFH" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:92196", "resource": "KEGG Pathway", "id": "hsa:92196", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017920.2", "annotation": "Authors show that DAPL1 is a novel regulator of RPE cell proliferation that is important for the maintenance of the RPE as a monolayer. The findings suggest that DAPL1 dysregulation may be involved in abnormal RPE-related proliferative diseases and corresponding retinal dysfunctions in humans.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017920.2", "id": "NP_001017920.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017920.2", "annotation": "DAPL1 plays a role in epithelial differentiation and may be involved in apoptotic processes thereby suggesting a possible novel pathway in AMD pathogenesis.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017920.2", "id": "NP_001017920.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017920.2", "annotation": "Human retinal pigment epithelium (RPE) cell lines that the pigment cell transcription factor MITF regulates RPE cell proliferation by upregulating DAPL1 expression.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017920.2", "id": "NP_001017920.2", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A0PJW8#function", "annotation": "May play a role in the early stages of epithelial differentiation or in apoptosis.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJW8#function", "id": "A0PJW8", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017920.2", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017920.2", "id": "NP_001017920.2", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "F7FMI3-1", "protein_name": "Death-associated protein-like 1", "sequence": { "length": 128, "sequence": "MGQLQLALSLRAPTRHWHTDTMANEVQVLSSPLKGRHAPAVKAGGMRISKKQEMGVLERHTKKTGLEKTSAITNVAKIQMLDTLTDTLDKLHHKFPATVHTAHQKPTPALEKAAPLKRAYIIQQPRKC" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0PJW8/", "id": "A0PJW8", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Dapl1", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q9D757-1", "protein_name": "Death-associated protein-like 1", "sequence": { "length": 107, "sequence": "MANEVQVLPSPLKGRYAPAVKAGGMRISKKQEMGVLERHTKKTGLEKTSAITNVAKIQMLDALTDTLDKLNHKFPATVHTAHQKPTPALEKAAPMKRAYIIQQPRKC" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0PJW8/", "id": "A0PJW8", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/18947", "id": "18947", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Dapl1", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "R", "start_pos": 105, "alt_nt": "A", "chr_id": "2", "ref_nt": "G", "chr_pos": "159672323", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." } }, { "synonyms": [ { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterus neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:363", "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." } }, { "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/A0PJW8", "id": "A0PJW8", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.6", "sequence_mut": "Q", "subjects_tested": "162", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs745794395.", "end_pos": 105, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017920.2", "ac": "NP_001017920.2", "name": "death-associated protein-like 1", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070513", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJW8", "id": "A0PJW8", "database": "UniProtKB" } ], "name": "death domain binding", "id": "GO:0070513" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJW8", "id": "A0PJW8", "database": "UniProtKB" } ], "name": "apoptotic signaling pathway", "id": "GO:0097190" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJW8", "id": "A0PJW8", "database": "UniProtKB" } ], "name": "negative regulation of autophagy", "id": "GO:0010507" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034198", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJW8", "id": "A0PJW8", "database": "UniProtKB" } ], "name": "cellular response to amino acid starvation", "id": "GO:0034198" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJW8", "id": "A0PJW8", "database": "UniProtKB" } ], "name": "cell differentiation", "id": "GO:0030154" } ], "total": 4, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A0PJW8", "type": "synonym", "resource": "RefSeq", "name": "DAPL1" }, { "url": "https://www.uniprot.org/uniprot/A0PJW8", "type": "recommended", "resource": "UniProtKB", "name": "DAPL1" }, { "url": "https://www.uniprot.org/uniprot/A0PJW8", "type": "synonym", "resource": "UniProtKB", "name": "EEDA" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000163331", "id": "ENSG00000163331", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJW8", "id": "A0PJW8", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=DAPL1", "id": "DAPL1", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/92196", "id": "92196", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=21490", "id": "21490", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A0PJW8*", "id": "A0PJW8", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR024130", "id": "IPR024130", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:92196", "id": "hsa:92196", "database": "KEGG Pathway" }, { "url": "https://www.nextprot.org/entry/NX_A0PJW8", "id": "NX_A0PJW8", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/FPATVHT/", "id": "FPATVHT", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=1490993at2759", "id": "1490993at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13177", "id": "PTHR13177", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF15228", "id": "PF15228", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A0PJW8", "id": "A0PJW8", "database": "PHAROS" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A0PJW8", "id": "PR_A0PJW8", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017920.2", "id": "NP_001017920.2", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A0PJW8", "id": "A0PJW8", "database": "UniProtKB" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "tumor of the prostate", "description": "" } ], "recommended_name": { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJW8", "id": "A0PJW8", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "Yes" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": 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