{ "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", "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJW8", "id": "A0PJW8", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "reaction_enzymes": [], "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", "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" } ], "reactions": [], "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|B8ZZC6_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|H0Y3U5_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|M1EA23_HUMAN Computationally mapped isoform of Death-associated protein-like 1 isoform 2 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": "" } ], "reaction_participants": [], "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": [ { "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs745794395.", "sequence_org": "R", "start_pos": 105, "alt_nt": "A", "chr_id": "2", "subjects_positive": "1", "chr_pos": "159672323", "disease": [ { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } }, { "disease_id": "DOID:363", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "CA - cancer of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterus neoplasm", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "Tumour of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of uterus", "id": "DOID:363" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the uterus.", "name": "uterine cancer", "id": "DOID:363" } }, { "disease_id": "DOID:11934", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "tumor of head and neck", "id": "DOID:11934" }, { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "head/neck neoplasm", "id": "DOID:11934" }, { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "head and neck tumours", "id": "DOID:11934" }, { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "head and neck neoplasm", "id": "DOID:11934" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "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.", "name": "head and neck cancer", "id": "DOID:11934" } } ], "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" ], "end_pos": 105, "minor_allelic_frequency": "", "ref_nt": "G" } ], "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": 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