{ "uniprot_canonical_ac": "A1XBS5-1", "ptm_annotation": [], "sequence": { "header": "sp|A1XBS5-1|FA92A_HUMAN Isoform 1 of Protein FAM92A OS=Homo sapiens OX=9606 GN=FAM92A PE=1 SV=2 CANONICAL=A1XBS5-1", "length": 289, "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVISQAETELQRAAMDASRTSRHLEETINNFERQKMKDIKTIFSEFITIEMLFHGKALEVYTAAYQNIQNIDEDEDLEVFRNSLYAPDYSSRLDIVRANSKSPLQRSLSAKCVSGTGQVSTCRLRKDQQAEDDEDDELDVTEEENFLK" }, "uniprot_id": "FA92A_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17646714", "type": [ "PubMed" ], "id": "17646714" } ], "title": "Identification and characterization of two novel variants of the DUF1208 protein FAM92A1.", "journal": "Mol. Cells", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "id": "NP_001269963.1", "database": "RefSeq" } ], "authors": "Zhao X.Y., Yan F., Deng H.X., Wang C.T., Wei Y.Q., Song M., Ruan X.Z., Yang H.S.", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19059705", "type": [ "PubMed" ], "id": "19059705" } ], "title": "Prokaryotic expression, purification of a new tumor-relative protein FAM92A1-289 and its characterization in renal cell carcinoma.", "journal": "Cancer letters", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "id": "NP_001269963.1", "database": "RefSeq" } ], "authors": "Liang S, Gong F, Zhao X, Wang X, Shen G, Xu Y, Yang H, Ruan X, Wei Y", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22832960", "type": [ "PubMed" ], "id": "22832960" } ], "title": "A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.", "journal": "Translational psychiatry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "id": "NP_001269963.1", "database": "RefSeq" } ], "authors": "Service SK, Verweij KJ, Lahti J, Congdon E, Ekelund J, Hintsanen M, Raikkonen K, Lehtimaki T, Kahonen M, Widen E, Taanila A, Veijola J, Heath AC, Madden PA, Montgomery GW, Sabatti C, Jarvelin MR, Palotie A, Raitakari O, Viikari J, Martin NG, Eriksson JG, Keltikangas-Jarvinen L, Wray NR, Freimer NB", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27528616", "type": [ "PubMed" ], "id": "27528616" } ], "title": "BAR domain-containing FAM92 proteins interact with chibby1 to facilitate ciliogenesis.", "journal": "Mol. Cell. Biol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "id": "NP_001269963.1", "database": "RefSeq" } ], "authors": "Chen X., Fisher C., Kuriyama R., Li F.Q., Siller S.S., Takemaru K.I., Zelikman K.", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27798880", "type": [ "PubMed" ], "id": "27798880" } ], "title": "The Tumor-promoting Effects of FAM92A1-289 in Cervical Carcinoma Cells.", "journal": "Anticancer research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "id": "NP_001269963.1", "database": "RefSeq" } ], "authors": "Gui H, Guo XR, Fang J, Ma SN, Wu G, Shen JH, Tu HJ, Li DS, Dai LJ, Ruan XZ", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30395363", "type": [ "PubMed" ], "id": "30395363" } ], "title": "FAM92A underlies nonsyndromic postaxial polydactyly in humans and an abnormal limb and digit skeletal phenotype in mice.", "journal": "J. Bone Miner. Res.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "id": "NP_001269963.1", "database": "RefSeq" } ], "authors": "Nickerson D.A., Lee K., Ahmad W., Ahmed Z.M., Ansar M., Aziz A., Giese A.P., Leal S.M., Riazuddin S., Bamshad M.J., Ali G., Khan F.S., Schrauwen I., Chakchouk I., Acharya A., Lafont D.T., Santos-Cortez R.L.P., Ullah A.", "date": "2019" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30404948", "type": [ "PubMed" ], "id": "30404948" } ], "title": "FAM92A1 is a BAR domain protein required for mitochondrial ultrastructure and function.", "journal": "The Journal of cell biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "id": "NP_001269963.1", "database": "RefSeq" } ], "authors": "Wang L, Yan Z, Vihinen H, Eriksson O, Wang W, Soliymani R, Lu Y, Xue Y, Jokitalo E, Li J, Zhao H", "date": "2019" } ], "uniprot_ac": "A1XBS5", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5#A0A087WTS3-1", "isoform_ac": "A0A087WTS3-1", "locus": { "end_pos": 93700648, "strand": "-", "start_pos": 93728294, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000620645", "id": "ENST00000620645", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000478089", "id": "ENSP00000478089", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A087WTS3-1|FA92A_HUMAN Computationally mapped isoform of Protein FAM92A OS=Homo sapiens OX=9606 GN=FAM92A PE=1 SV=1 CANONICAL=A1XBS5-1", "length": 288, "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVLLAETELQRAAMDASRTSRHLEETINNFERQKMKDIKTIFSEFITIEMLFHGKALEVYTAAYQNIQNIDEDEDLEVFRNSLYAPDYSSRLDIVRANSKSPLQRSLSAKCVSGTGQVSTCRLRKDQQAEDDEDDELDVTEEENFLK" } }, { "url": "https://www.uniprot.org/uniprot/A1XBS5#A0A0B4J212-1", "isoform_ac": "A0A0B4J212-1", "locus": { "end_pos": 93700648, "strand": "-", "start_pos": 93705064, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000522324", "id": "ENST00000522324", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000430069", "id": "ENSP00000430069", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0B4J212-1|FA92A_HUMAN Computationally mapped isoform of Protein FAM92A OS=Homo sapiens OX=9606 GN=FAM92A PE=1 SV=1 CANONICAL=A1XBS5-1", "length": 162, "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVIVSFEFGSLKKCLRYGVQK" } }, { "url": "https://www.uniprot.org/uniprot/A1XBS5#A1XBS5-1", "isoform_ac": "A1XBS5-1", "locus": { "end_pos": 93700648, "strand": "-", "start_pos": 93728294, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000518322", "id": "ENST00000518322", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000429367", "id": "ENSP00000429367", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1XBS5-1|FA92A_HUMAN Isoform 1 of Protein FAM92A OS=Homo sapiens OX=9606 GN=FAM92A PE=1 SV=2 CANONICAL=A1XBS5-1", "length": 289, "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVISQAETELQRAAMDASRTSRHLEETINNFERQKMKDIKTIFSEFITIEMLFHGKALEVYTAAYQNIQNIDEDEDLEVFRNSLYAPDYSSRLDIVRANSKSPLQRSLSAKCVSGTGQVSTCRLRKDQQAEDDEDDELDVTEEENFLK" } }, { "url": "https://www.uniprot.org/uniprot/A1XBS5#A1XBS5-2", "isoform_ac": "A1XBS5-2", "locus": { "end_pos": 93700648, "strand": "-", "start_pos": 93728294, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000423990", "id": "ENST00000423990", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000401774", "id": "ENSP00000401774", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1XBS5-2|FA92A_HUMAN Isoform 2 of Protein FAM92A OS=Homo sapiens OX=9606 GN=FAM92A PE=1 SV=2 CANONICAL=A1XBS5-1", "length": 251, "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVISQAETELQRAAMDASRTSRHLEETINNFERQKMKDIKVFRNSLYAPDYSSRLDIVRANSKSPLQRSLSAKCVSGTGQVSTCRLRKDQQAEDDEDDELDVTEEENFLK" } }, { "url": "https://www.uniprot.org/uniprot/A1XBS5#A1XBS5-3", "isoform_ac": "A1XBS5-3", "locus": { "end_pos": 93700648, "strand": "-", "start_pos": 93727166, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000452913", "id": "ENST00000452913", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000391671", "id": "ENSP00000391671", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1XBS5-3|FA92A_HUMAN Isoform 3 of Protein FAM92A OS=Homo sapiens OX=9606 GN=FAM92A PE=1 SV=2 CANONICAL=A1XBS5-1", "length": 271, "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVISQAETELQRAAMDASRTSRHLEETINNFERQKMKDIKTIFSEFITIEMLFHGKALEVYTAAYQNIQNIDEDEDLEVFRNSLYAPDYSSRLDIVRANSKSPLQRSLSAKCVSGTGQEAGWAATCQTLI" } }, { "url": "https://www.uniprot.org/uniprot/A1XBS5#A1XBS5-4", "isoform_ac": "A1XBS5-4", "locus": { "end_pos": 93700648, "strand": "-", "start_pos": 93726436, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000518116", "id": "ENST00000518116", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000428065", "id": "ENSP00000428065", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1XBS5-4|FA92A_HUMAN Isoform 4 of Protein FAM92A OS=Homo sapiens OX=9606 GN=FAM92A PE=1 SV=2 CANONICAL=A1XBS5-1", "length": 262, "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVISQAETELQRAAMDASRTSRHLEETINNFERQKMKDIKTIFSEFITIEMLFHGKALEVYTAAYQNIQNIDEDEDLERWSFAMLPRLVLNSWGSSDPPALASQSVRFSEILCMHQIIHLV" } }, { "url": "https://www.uniprot.org/uniprot/A1XBS5#A1XBS5-5", "isoform_ac": "A1XBS5-5", "locus": {}, "sequence": { "header": "sp|A1XBS5-5|FA92A_HUMAN Isoform 5 of Protein FAM92A OS=Homo sapiens OX=9606 GN=FAM92A PE=1 SV=2 CANONICAL=A1XBS5-1", "length": 97, "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVWSEITVSLL" } }, { "url": "https://www.uniprot.org/uniprot/A1XBS5#E5RFH7-1", "isoform_ac": "E5RFH7-1", "locus": { "end_pos": 93709798, "strand": "-", "start_pos": 93728294, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000517718", "id": "ENST00000517718", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000428874", "id": "ENSP00000428874", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E5RFH7-1|FA92A_HUMAN Computationally mapped isoform of Protein FAM92A OS=Homo sapiens OX=9606 GN=FAM92A PE=1 SV=1 CANONICAL=A1XBS5-1", "length": 134, "sequence": "MDASRTSRHLEETINNFERQKMKDIKTIFSEFITIEMLFHGKALEVYTAAYQNIQNIDEDEDLEVFRNSLYAPDYSSRLDIVRANSKSPLQRSLSAKCVSGTGQVSTCRLRKDQQAEDDEDDELDVTEEENFLK" } }, { "url": "https://www.uniprot.org/uniprot/A1XBS5#E5RFS7-1", "isoform_ac": "E5RFS7-1", "locus": { "end_pos": 93701408, "strand": "-", "start_pos": 93704983, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000520955", "id": "ENST00000520955", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000427991", "id": "ENSP00000427991", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E5RFS7-1|FA92A_HUMAN Computationally mapped isoform of Protein FAM92A OS=Homo sapiens OX=9606 GN=FAM92A PE=1 SV=1 CANONICAL=A1XBS5-1", "length": 65, "sequence": "MNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQ" } }, { "url": "https://www.uniprot.org/uniprot/A1XBS5#E5RGD0-1", "isoform_ac": "E5RGD0-1", "locus": { "end_pos": 93700648, "strand": "-", "start_pos": 93709812, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000522803", "id": "ENST00000522803", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000428739", "id": "ENSP00000428739", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E5RGD0-1|FA92A_HUMAN Computationally mapped isoform of Protein FAM92A OS=Homo sapiens OX=9606 GN=FAM92A PE=1 SV=1 CANONICAL=A1XBS5-1", "length": 168, "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVLMNNDKKVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVISQAETELQRAAMDASR" } }, { "url": "https://www.uniprot.org/uniprot/A1XBS5#E5RGE3-1", "isoform_ac": "E5RGE3-1", "locus": { "end_pos": 93701408, "strand": "-", "start_pos": 93709779, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000523475", "id": "ENST00000523475", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000430217", "id": "ENSP00000430217", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E5RGE3-1|FA92A_HUMAN Computationally mapped isoform of Protein FAM92A OS=Homo sapiens OX=9606 GN=FAM92A PE=1 SV=1 CANONICAL=A1XBS5-1", "length": 79, "sequence": "MNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVISQAET" } }, { "url": "https://www.uniprot.org/uniprot/A1XBS5#E5RGP4-1", "isoform_ac": "E5RGP4-1", "locus": { "end_pos": 93709798, "strand": "-", "start_pos": 93726543, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000519679", "id": "ENST00000519679", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000429955", "id": "ENSP00000429955", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E5RGP4-1|FA92A_HUMAN Computationally mapped isoform of Protein FAM92A OS=Homo sapiens OX=9606 GN=FAM92A PE=1 SV=1 CANONICAL=A1XBS5-1", "length": 114, "sequence": "MDASRTSRHLEETINNFERQKMKDIKTIFSEFITIEMLFHGKALEVYTAAYQNIQNIDEDEDLEVFRNSLYAPDYSSRLDIVRANSKSPLQRSLSAKCVSGTGQVSKKPYSKGI" } }, { "url": "https://www.uniprot.org/uniprot/A1XBS5#E5RHA4-1", "isoform_ac": "E5RHA4-1", "locus": { "end_pos": 93703680, "strand": "-", "start_pos": 93705010, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000519135", "id": "ENST00000519135", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000428633", "id": "ENSP00000428633", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E5RHA4-1|FA92A_HUMAN Computationally mapped isoform of Protein FAM92A OS=Homo sapiens OX=9606 GN=FAM92A PE=1 SV=1 CANONICAL=A1XBS5-1", "length": 37, "sequence": "MKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVI" } }, { "url": "https://www.uniprot.org/uniprot/A1XBS5#E5RHK0-1", "isoform_ac": "E5RHK0-1", "locus": { "end_pos": 93700648, "strand": "-", "start_pos": 93702299, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000520937", "id": "ENST00000520937", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000429722", "id": "ENSP00000429722", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E5RHK0-1|FA92A_HUMAN Computationally mapped isoform of Protein FAM92A OS=Homo sapiens OX=9606 GN=FAM92A PE=1 SV=1 CANONICAL=A1XBS5-1", "length": 132, "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAENLKREFQFSKNRMSIKKIELIIAIHTNLKSNHIWRYFWKNVEFLS" } }, { "url": "https://www.uniprot.org/uniprot/A1XBS5#E5RID3-1", "isoform_ac": "E5RID3-1", "locus": { "end_pos": 93701408, "strand": "-", "start_pos": 93709872, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000518829", "id": "ENST00000518829", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000428446", "id": "ENSP00000428446", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E5RID3-1|FA92A_HUMAN Computationally mapped isoform of Protein FAM92A OS=Homo sapiens OX=9606 GN=FAM92A PE=1 SV=1 CANONICAL=A1XBS5-1", "length": 110, "sequence": "MNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVISQAETELQRAAMDASRTSRHLEETINNFERQKMKDI" } }, { "url": "https://www.uniprot.org/uniprot/A1XBS5#F8W7P5-1", "isoform_ac": "F8W7P5-1", "locus": { "end_pos": 93700648, "strand": "-", "start_pos": 93707258, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000359421", "id": "ENST00000359421", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000352391", "id": "ENSP00000352391", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8W7P5-1|FA92A_HUMAN Computationally mapped isoform of Protein FAM92A OS=Homo sapiens OX=9606 GN=FAM92A PE=1 SV=1 CANONICAL=A1XBS5-1", "length": 163, "sequence": "MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVINFEEFSVKRRNIRNLYSLC" } }, { "url": "https://www.uniprot.org/uniprot/A1XBS5#H0YC32-1", "isoform_ac": "H0YC32-1", "locus": { "end_pos": 93700667, "strand": "-", "start_pos": 93709864, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000523453", "id": "ENST00000523453", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000430812", "id": "ENSP00000430812", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0YC32-1|FA92A_HUMAN Computationally mapped isoform of Protein FAM92A OS=Homo sapiens OX=9606 GN=FAM92A PE=1 SV=1 CANONICAL=A1XBS5-1", "length": 188, "sequence": "XKPVTARAQLPRAAHTGGLGNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAATETPHLKLGLMNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTARNREAKQLTQLERTRQRNPSDRHVISQAETELQRAAMDASRTSRHLEETINNFERQKM" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:137392", "resource": "KEGG Pathway", "id": "hsa:137392", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "annotation": "A new nonsyndromic autosomal recessive nonsyndromic postaxial polydactyly type A ciliopathy due to a loss-of-function variant in FAM92A.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "id": "NP_001269963.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A1XBS5#function", "annotation": "Acts as a positive regulator of ciliary hedgehog signaling (By similarity). Probable regulator of ciliogenesis involved in limb morphogenesis. In cooperation with CBY1 it is involved in the recruitment and fusion of endosomal vesicles at distal appendages during early stages of ciliogenesis.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5#function", "id": "A1XBS5", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "annotation": "FAM92 proteins interact with Cby1 to promote ciliogenesis via regulation of membrane-remodeling processes. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "id": "NP_001269963.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "annotation": "FAM92A1 has different splicing variants, and that it may take part in regulating cell proliferation and apoptosis.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "id": "NP_001269963.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "annotation": "FAM92A1-289 is a new tumor-related gene with oncogenic potentials to probably play roles in renal carcinogenesis.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "id": "NP_001269963.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "annotation": "FAM92A1-289 retains many oncogenic properties evidenced by facilitating cell migration, boosting cell proliferation and promoting colony formation in vitro and tumor growth in vivo, providing evidence for use as as a therapeutic target for cancer treatment.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "id": "NP_001269963.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "annotation": "The findings uncover a role for a BAR domain FAM92A1 protein as a critical organizer of the mitochondrial ultrastructure that is indispensable for mitochondrial function.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "id": "NP_001269963.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZP87-1", "protein_name": "Family with sequence similarity 92 member A", "sequence": { "length": 355, "sequence": "MPSGLPCPSLDRRGARRVATETPDRSGGAPGALSAPGGSGGVSCSRAPWRPGAALVGLPSRVPGGAKGKMLRRNLDDRDAQTKQLQDAVTNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINLYASTETPNLKQGLKDFADEFAKLQDYRQAEVERLEAKVVEPLKAYGTIVKMKRDDLKATLTARNREAKQLSQLERTRQRNPSDRHVISQAETELQRATIDATRTTRHLEETIDNFEKQKIKDIKNILSEFITIEMLFHGKALEVLTAAYQNIQKIDEDEDLEVFRNSLYLSDYPSRLDIVRANSKSPLQRPLSTKCTSGTGQVATCRTKKDQHVEDEDDEELDVTEDEN" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/12234", "id": "12234", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Fam92a", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8BP22-1", "protein_name": "Protein FAM92A", "sequence": { "length": 355, "sequence": "MPSGLPCPALDRRGARRVATETPGRRGGAHCALSAPGRSGGVACSRAPWRPGAALVGLPSWVPGGGKGKMLRRNLDERDAQTKQLQDAVTNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINLYASTETPNLKQGLKDFADEFAKLQDYRQAEVERLEAKVVEPLKAYGTIVKMKRDDLKATLTARNREAKQLSQLERTRQRNPSDRHVISQAETELQRATIDATRTSRHLEETIDNFEKQKIKDIKNILSEFITIEMLFHGKALEVFTAAYQNIQNIDEDEDLEVFRNSLYLSDYPSRLDIVRANSKSPLQRSLSTKCTSGTGQISTCRTRKDQQVEDEDDEELDVTEDEN" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/12234", "id": "12234", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Fam92a", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "I", "start_pos": 188, "alt_nt": "G", "chr_id": "8", "ref_nt": "C", "chr_pos": "94730923", "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/A1XBS5", "id": "A1XBS5", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.4", "sequence_mut": "M", "subjects_tested": "72", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.4%).", "end_pos": 188, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "ac": "NP_001269963.1", "name": "protein FAM92A isoform 2", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "pmid": "30404948", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "database": "UniProtKB" } ], "name": "phospholipid binding", "id": "GO:0005543" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "pmid": "17646714", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "database": "UniProtKB" } ], "name": "nucleus", "id": "GO:0005634" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "pmid": "30404948", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "database": "UniProtKB" } ], "name": "nucleus", "id": "GO:0005634" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "pmid": "27528616", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "pmid": "30404948", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "pmid": "30404948", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "database": "UniProtKB" } ], "name": "mitochondrial inner membrane", "id": "GO:0005743" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "pmid": "27528616", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "database": "UniProtKB" } ], "name": "centriole", "id": "GO:0005814" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "pmid": "27528616", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "database": "UniProtKB" } ], "name": "ciliary base", "id": "GO:0097546" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "database": "UniProtKB" } ], "name": "ciliary basal body", "id": "GO:0036064" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "database": "UniProtKB" } ], "name": "ciliary transition zone", "id": "GO:0035869" } ], "total": 9, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061024", "pmid": "30404948", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "database": "UniProtKB" } ], "name": "membrane organization", "id": "GO:0061024" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "pmid": "27528616", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "database": "UniProtKB" } ], "name": "cilium assembly", "id": "GO:0060271" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035108", "pmid": "30395363", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "database": "UniProtKB" } ], "name": "limb morphogenesis", "id": "GO:0035108" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007007", "pmid": "30404948", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "database": "UniProtKB" } ], "name": "inner mitochondrial membrane organization", "id": "GO:0007007" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045880", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "database": "UniProtKB" } ], "name": "positive regulation of smoothened signaling pathway", "id": "GO:0045880" } ], "total": 5, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A1XBS5", "type": "synonym", "resource": "RefSeq", "name": "BARMR1; FAM92A; FAM92A1; PAPA9" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A1XBS5", "type": "synonym", "resource": "RefSeq", "name": "CIBAR1" }, { "url": "https://www.uniprot.org/uniprot/A1XBS5", "type": "synonym", "resource": "UniProtKB", "name": "FAM92A1" }, { "url": "https://www.uniprot.org/uniprot/A1XBS5", "type": "recommended", "resource": "UniProtKB", "name": "FAM92A" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188343", "id": "ENSG00000188343", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1XBS5", "id": "A1XBS5", "database": "BioMuta" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07598", "id": "cd07598", "database": "CDD" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CIBAR1", "id": "CIBAR1", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/137392", "id": "137392", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=30452", "id": "30452", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A1XBS5*", "id": "A1XBS5", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR009602", "id": "IPR009602", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR027267", "id": "IPR027267", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR035590", "id": "IPR035590", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:137392", "id": "hsa:137392", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/617273", "id": "617273", "database": "MIM" }, { "url": "http://www.omim.org/entry/618219", "id": "618219", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A1XBS5", "id": "NX_A1XBS5", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/FILISMK/", "id": "FILISMK", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=1324464at2759", "id": "1324464at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21223", "id": "PTHR21223", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF06730", "id": "PF06730", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A1XBS5", "id": "A1XBS5", "database": "PHAROS" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A1XBS5", "id": "PR_A1XBS5", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963.1", "id": "NP_001269963.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A1XBS5", "id": "A1XBS5", "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/A1XBS5", "id": "A1XBS5", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "Yes" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1XBS5", "id": "A1XBS5", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "No" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Up", "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/bioxpress/transcriptview/A1XBS5", "id": "A1XBS5", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "No" }, { "name": "Liver cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease 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