{ "uniprot_canonical_ac": "A0PK05-1", "ptm_annotation": [], "sequence": { "header": "sp|A0PK05-1|TMM72_HUMAN Isoform 1 of Transmembrane protein 72 OS=Homo sapiens OX=9606 GN=TMEM72 PE=2 SV=1 CANONICAL=A0PK05-1", "length": 275, "sequence": "MQLQVFWTGLEYTCRLLGITTAAVLIGVGTETFLQGQFKSLAFYLLFTGAAVSICEGAYFVAQLLAICFQCQPGSLADRVREKAHWLGCFQKFLAYLLLSVACFLHPVLVWHVTIPGSMLIITGLAYFLLSKRKKRKAAPEVLASPEQYTDPSSSAVSTTGSGDTEQTYTFHGALKEGPSSLFIHMKSILKGTKKPSALQPPNTLMELSLEPADSLAKKKQVHFEDNLVRIVPSLAEGLDDGDSEPEETTSDTTPIIPPPQAPLFLSSLTATGLF" }, "uniprot_id": "TMM72_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "man", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PK05", "id": "A0PK05", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26169495", "type": [ "PubMed" ], "id": "26169495" } ], "title": "Expression of pre-selected TMEMs with predicted ER localization as potential classifiers of ccRCC tumors.", "journal": "BMC cancer", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116848.1", "id": "NP_001116848.1", "database": "RefSeq" } ], "authors": "Wrzesinski T, Szelag M, Cieslikowski WA, Ida A, Giles R, Zodro E, Szumska J, Pozniak J, Kwias Z, Bluyssen HA, Wesoly J", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12477932", "type": [ "PubMed" ], "id": "12477932" } ], "title": "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116848.1", "id": "NP_001116848.1", "database": "RefSeq" } ], "authors": "Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA", "date": "2002" } ], "uniprot_ac": "A0PK05", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0PK05#A0PK05-2", "isoform_ac": "A0PK05-2", "locus": { "end_pos": 44934661, "start_pos": 44935131, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000544540", "id": "ENST00000544540", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000439911", "id": "ENSP00000439911", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0PK05-2|TMM72_HUMAN Isoform 2 of Transmembrane protein 72 OS=Homo sapiens OX=9606 GN=TMEM72 PE=2 SV=1 CANONICAL=A0PK05-1", "length": 157, "sequence": "MLIITGLAYFLLSKRKKRKAAPEVLASPEQYTDPSSSAVSTTGSGDTEQTYTFHGALKEGPSSLFIHMKSILKGTKKPSALQPPNTLMELSLEPADSLAKKKQVHFEDNLVRIVPSLAEGLDDGDSEPEETTSDTTPIIPPPQAPLFLSSLTATGLF" } }, { "url": "https://www.uniprot.org/uniprot/A0PK05#A0PK05-1", "isoform_ac": "A0PK05-1", "locus": { "end_pos": 44911513, "start_pos": 44935131, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000389583", "id": "ENST00000389583", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000374234", "id": "ENSP00000374234", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0PK05-1|TMM72_HUMAN Isoform 1 of Transmembrane protein 72 OS=Homo sapiens OX=9606 GN=TMEM72 PE=2 SV=1 CANONICAL=A0PK05-1", "length": 275, "sequence": "MQLQVFWTGLEYTCRLLGITTAAVLIGVGTETFLQGQFKSLAFYLLFTGAAVSICEGAYFVAQLLAICFQCQPGSLADRVREKAHWLGCFQKFLAYLLLSVACFLHPVLVWHVTIPGSMLIITGLAYFLLSKRKKRKAAPEVLASPEQYTDPSSSAVSTTGSGDTEQTYTFHGALKEGPSSLFIHMKSILKGTKKPSALQPPNTLMELSLEPADSLAKKKQVHFEDNLVRIVPSLAEGLDDGDSEPEETTSDTTPIIPPPQAPLFLSSLTATGLF" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:643236", "resource": "KEGG Pathway", "id": "hsa:643236", "name": "" } ], "function": [], "orthologs": [ { "uniprot_canonical_ac": "D4A2U6-1", "protein_name": "Transmembrane protein 72", "sequence": { "length": 275, "sequence": "MKLQVFWTGLEYTCRLLGITTAAVLIGVGTETFLRGRFKSLAFYLLFTGVTISVCEGTYFVAQLLAICFKCQPGSLAHRAKEKAHWLGCFQKFLAYMLLSVACFLHPVLVWHVTIPGSMLIITGLAYFLLSKRKKKKAAPEVMPPTEQYRDPSSSIVSTTGSGDTEQTYTFHEAFKEGPSSFLIHMKSILKGTKKPRVLQAQDTLMELALEPADSLAKKKQVHFEDNVVRIIPSLTEGLGDSDSGPEETSSDTTPIIPPSQTPLFLPSLMATDLF" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0PK05/", "id": "A0PK05", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/18704", "id": "18704", "database": "MGI" } ], "common_name": "rats", "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8C3K5-1", "protein_name": "Transmembrane protein 72", "sequence": { "length": 275, "sequence": "MKLQVFWTGLEYTCRLLGIATAAVLIGVGTETFLRGRFKSLAFYLLFTGVTISVCEGTYFVAQLLAICFKCQPGSLAHRAKERAHWLGCFQKFLAYMLLSVACFLHPVLVWHVTIPGSMLIITGLAYFLLSKRKKKKAAPEVAPPTEQYTDPSSSVVSTTGSGDTEQTYTFHEAFKEGPGSFFIHMKSILKGTKKPRVLQTQDTLMELALEPADSLAKKKQVHFEDNVVRIIPSLTEGLGDSDSEPEETSSDTTPIIPPSQTPHFLPSLMATDLF" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0PK05/", "id": "A0PK05", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/18704", "id": "18704", "database": "MGI" } ], "common_name": "mouse", "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "C", "start_pos": 103, "alt_nt": "C", "chr_id": "10", "ref_nt": "T", "chr_pos": "45429182", "disease": [ { "synonyms": [ { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "1781", "url": 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(1.5%).", "end_pos": 41, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116848.1", "ac": "NP_001116848.1", "name": "transmembrane protein 72 isoform 1", "summary": "This gene encodes a transmembrane protein which may be expressed specifically in the kidney. [provided by RefSeq, Sep 2016]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PK05", "id": "A0PK05", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" } ], "total": 1, "name": "Cellular Component" } ] }, "gene_names": [ { "url": "https://www.uniprot.org/uniprot/A0PK05", "type": "synonym", "resource": "UniProtKB", "name": "C10orf127" }, { "url": "https://www.uniprot.org/uniprot/A0PK05", "type": "synonym", "resource": "UniProtKB", "name": "KSP37" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0PK05", "type": "synonym", "resource": "RefSeq", "name": "C10orf127; KSP37" }, { "url": "https://www.uniprot.org/uniprot/A0PK05", "type": "recommended", "resource": "UniProtKB", "name": "TMEM72" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0PK05", "type": "synonym", "resource": "RefSeq", "name": "TMEM72" } ], "crossref": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PK05", "id": "A0PK05", "database": "BioMuta" }, { "url": "http://www.orthodb.org/?query=1128211at2759", "id": "1128211at2759", "database": "OrthoDB" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=31658", "id": "31658", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A0PK05*", "id": "A0PK05", "database": "IntAct" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:643236", "id": "hsa:643236", "database": "KEGG Pathway" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A0PK05", "id": "PR_A0PK05", "database": "PRO" }, { "url": "https://www.nextprot.org/entry/NX_A0PK05", "id": "NX_A0PK05", "database": "neXtProt" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/643236", "id": "643236", "database": "GeneID" }, { "url": "https://omabrowser.org/oma/group/RWLGCFQ/", "id": "RWLGCFQ", "database": "OMA" }, { "url": "http://pfam.xfam.org/family/PF16054", "id": "PF16054", "database": "Pfam" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM72", "id": "TMEM72", "database": "GeneCards" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR032055", "id": "IPR032055", "database": "InterPro" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000187783", "id": "ENSG00000187783", "database": "Bgee" }, { "url": "https://pharos.nih.gov/targets/A0PK05", "id": "A0PK05", "database": "PHAROS" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR28474", "id": "PTHR28474", "database": "PANTHER" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116848.1", "id": "NP_001116848.1", "database": "RefSeq" } ], "expression_disease": [ { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "bronchogenic lung adenocarcinoma", 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