{ "uniprot_canonical_ac": "A6NC98-1", "ptm_annotation": [], "sequence": { "header": "sp|A6NC98-1|CC88B_HUMAN Isoform 1 of Coiled-coil domain-containing protein 88B OS=Homo sapiens OX=9606 GN=CCDC88B PE=1 SV=1 CANONICAL=A6NC98-1", "length": 1476, "sequence": "MEGGKGPRLRDFLSGSLATWALGLAGLVGEAEDSEGEEEEEEEEPPLWLEKRFLRLSDGALLLRVLGIIAPSSRGGPRMLRGLDGPAAWRVWNLNHLWGRLRDFYQEELQLLILSPPPDLQTLGFDPLSEEAVEQLEGVLRLLLGASVQCEHRELFIRHIQGLSLEVQSELAAAIQEVTQPGAGVVLALSGPDPGELAPAELEMLSRSLMGTLSKLARERDLGAQRLAELLLEREPLCLRPEAPSRAPAEGPSHHLALQLANAKAQLRRLRQELEEKAELLLDSQAEVQGLEAEIRRLRQEAQALSGQAKRAELYREEAEALRERAGRLPRLQEELRRCRERLQAAEAYKSQLEEERVLSGVLEASKALLEEQLEAARERCARLHETQRENLLLRTRLGEAHAELDSLRHQVDQLAEENVELELELQRSLEPPPGSPGEAPLAGAAPSLQDEVREAEAGRLRTLERENRELRGLLQVLQGQPGGQHPLLEAPREDPVLPVLEEAPQTPVAFDHSPQGLVQKARDGGPQALDLAPPALDSVLEASAECPQAPDSDPQEAESPLQAAAMDPQASDWSPQESGSPVETQESPEKAGRRSSLQSPASVAPPQGPGTKIQAPQLLGGETEGREAPQGELVPEAWGLRQEGPEHKPGPSEPSSVQLEEQEGPNQGLDLATGQAEAREHDQRLEGTVRDPAWQKPQQKSEGALEVQVWEGPIPGESLASGVAEQEALREEVAQLRRKAEALGDELEAQARKLEAQNTEAARLSKELAQARRAEAEAHREAEAQAWEQARLREAVEAAGQELESASQEREALVEALAAAGRERRQWEREGSRLRAQSEAAEERMQVLESEGRQHLEEAERERREKEALQAELEKAVVRGKELGDRLEHLQRELEQAALERQEFLREKESQHQRYQGLEQRLEAELQAAATSKEEALMELKTRALQLEEELFQLRQGPAGLGPKKRAEPQLVETQNVRLIEVERSNAMLVAEKAALQGQLQHLEGQLGSLQGRAQELLLQSQRAQEHSSRLQAEKSVLEIQGQELHRKLEVLEEEVRAARQSQEETRGQQQALLRDHKALAQLQRRQEAELEGLLVRHRDLKANMRALELAHRELQGRHEQLQAQRASVEAQEVALLAERERLMQDGHRQRGLEEELRRLQSEHDRAQMLLAELSRERGELQGERGELRGRLARLELERAQLEMQSQQLRESNQQLDLSACRLTTQCELLTQLRSAQEEENRQLLAEVQALSRENRELLERSLESRDHLHREQREYLDQLNALRREKQKLVEKIMDQYRVLEPVPLPRTKKGSWLADKVKRLMRPRREGGPPGGLRLGADGAGSTESLGGPPETELPEGREADGTGSPSPAPMRRAQSSLCLRDETLAGGQRRKLSSRFPVGRSSESFSPGDTPRQRFRQRHPGPLGAPVSHSKGPGVGWENSAETLQEHETDANREGPEVQEPEKRPLTPSLSQ" }, "uniprot_id": "CC88B_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98", "id": "A6NC98", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/11230166", "type": [ "PubMed" ], "id": "11230166" } ], "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "journal": "Genome Res.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98", "id": "A6NC98", "database": "UniProtKB" } ], "authors": "Ansorge W., Bauersachs S., Beyer A., Bloecker H., Blum H., Boecher M., Duesterhoeft A., Gassenhuber J., Glassl S., Heubner D., Klein M., Koehrer K., Korn B., Lauber J., Mewes H.-W., Obermaier B., Ottenwaelder B., Poustka A., Strack N., Tampe J., Wambutt R., Weil B., Wellenreuther R., Wiemann S.", "date": "2001" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/15882442", "type": [ "PubMed" ], "id": "15882442" } ], "title": "A novel hook-related protein family and the characterization of hook-related protein 1.", "journal": "Traffic (Copenhagen, Denmark)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115627.6", "id": "NP_115627.6", "database": "RefSeq" } ], "authors": "Simpson F, Martin S, Evans TM, Kerr M, James DE, Parton RG, Teasdale RD, Wicking C", "date": "2005" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21289099", "type": [ "PubMed" ], "id": "21289099" } ], "title": "Protective role of Gipie, a Girdin family protein, in endoplasmic reticulum stress responses in endothelial cells.", "journal": "Mol. Biol. Cell", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98", "id": "A6NC98", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115627.6", "id": "NP_115627.6", "database": "RefSeq" } ], "authors": "Takahashi K., Takahashi M., Hattori S., Maeda K., Asai N., Enomoto A., Kato T., Murakumo Y., Hagikura M., Kawamoto Y., Matsushita E., Mii S., Murohara T., Shibata R., Sokabe M.", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22837380", "type": [ "PubMed" ], "id": "22837380" } ], "title": "A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1.", "journal": "American journal of respiratory and critical care medicine", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115627.6", "id": "NP_115627.6", "database": "RefSeq" } ], "authors": "Fischer A, Schmid B, Ellinghaus D, Nothnagel M, Gaede KI, Schurmann M, Lipinski S, Rosenstiel P, Zissel G, Hohne K, Petrek M, Kolek V, Pabst S, Grohe C, Grunewald J, Ronninger M, Eklund A, Padyukov L, Gieger C, Wichmann HE, Nebel A, Franke A, Muller-Quernheim J, Hofmann S, Schreiber S", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23128233", "type": [ "PubMed" ], "id": "23128233" } ], "title": "Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.", "journal": "Nature", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115627.6", "id": "NP_115627.6", "database": "RefSeq" } ], "authors": "Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K, Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z, Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN, Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A, Boucher G, Brand S, Buning C, Cohain A, Cichon S, D'Amato M, De Jong D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson LR, Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas J, Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH, Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W, Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M, Verspaget HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ, Zeissig S, Zhang B, Zhang CK, Zhao H, Silverberg MS, Annese V, Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD, Schadt EE, Daly MJ, Franke A, Parkes M, Vermeire S, Barrett JC, Cho JH", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25762780", "type": [ "PubMed" ], "id": "25762780" } ], "title": "HkRP3 is a microtubule-binding protein regulating lytic granule clustering and NK cell killing.", "journal": "J. Immunol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98", "id": "A6NC98", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115627.6", "id": "NP_115627.6", "database": "RefSeq" } ], "authors": "Billadeau D.D., Huynh W., Vale R.D., Ham H., Schoon R.A.", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29030607", "type": [ "PubMed" ], "id": "29030607" } ], "title": "CCDC88B is required for pathogenesis of inflammatory bowel disease.", "journal": "Nature communications", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115627.6", "id": "NP_115627.6", "database": "RefSeq" } ], "authors": "Fodil N, Moradin N, Leung V, Olivier JF, Radovanovic I, Jeyakumar T, Flores Molina M, McFarquhar A, Cayrol R, Bozec D, Shoukry NH, Kubo M, Dimitrieva J, Louis E, Theatre E, Dahan S, Momozawa Y, Georges M, Yeretssian G, Gros P", "date": "2017" } ], "uniprot_ac": "A6NC98", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A6NC98#A6NC98-1", "isoform_ac": "A6NC98-1", "locus": { "end_pos": 64340267, "strand": "-", "start_pos": 64357091, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000356786", "id": "ENST00000356786", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000349238", "id": "ENSP00000349238", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A6NC98-1|CC88B_HUMAN Isoform 1 of Coiled-coil domain-containing protein 88B OS=Homo sapiens OX=9606 GN=CCDC88B PE=1 SV=1 CANONICAL=A6NC98-1", "length": 1476, "sequence": "MEGGKGPRLRDFLSGSLATWALGLAGLVGEAEDSEGEEEEEEEEPPLWLEKRFLRLSDGALLLRVLGIIAPSSRGGPRMLRGLDGPAAWRVWNLNHLWGRLRDFYQEELQLLILSPPPDLQTLGFDPLSEEAVEQLEGVLRLLLGASVQCEHRELFIRHIQGLSLEVQSELAAAIQEVTQPGAGVVLALSGPDPGELAPAELEMLSRSLMGTLSKLARERDLGAQRLAELLLEREPLCLRPEAPSRAPAEGPSHHLALQLANAKAQLRRLRQELEEKAELLLDSQAEVQGLEAEIRRLRQEAQALSGQAKRAELYREEAEALRERAGRLPRLQEELRRCRERLQAAEAYKSQLEEERVLSGVLEASKALLEEQLEAARERCARLHETQRENLLLRTRLGEAHAELDSLRHQVDQLAEENVELELELQRSLEPPPGSPGEAPLAGAAPSLQDEVREAEAGRLRTLERENRELRGLLQVLQGQPGGQHPLLEAPREDPVLPVLEEAPQTPVAFDHSPQGLVQKARDGGPQALDLAPPALDSVLEASAECPQAPDSDPQEAESPLQAAAMDPQASDWSPQESGSPVETQESPEKAGRRSSLQSPASVAPPQGPGTKIQAPQLLGGETEGREAPQGELVPEAWGLRQEGPEHKPGPSEPSSVQLEEQEGPNQGLDLATGQAEAREHDQRLEGTVRDPAWQKPQQKSEGALEVQVWEGPIPGESLASGVAEQEALREEVAQLRRKAEALGDELEAQARKLEAQNTEAARLSKELAQARRAEAEAHREAEAQAWEQARLREAVEAAGQELESASQEREALVEALAAAGRERRQWEREGSRLRAQSEAAEERMQVLESEGRQHLEEAERERREKEALQAELEKAVVRGKELGDRLEHLQRELEQAALERQEFLREKESQHQRYQGLEQRLEAELQAAATSKEEALMELKTRALQLEEELFQLRQGPAGLGPKKRAEPQLVETQNVRLIEVERSNAMLVAEKAALQGQLQHLEGQLGSLQGRAQELLLQSQRAQEHSSRLQAEKSVLEIQGQELHRKLEVLEEEVRAARQSQEETRGQQQALLRDHKALAQLQRRQEAELEGLLVRHRDLKANMRALELAHRELQGRHEQLQAQRASVEAQEVALLAERERLMQDGHRQRGLEEELRRLQSEHDRAQMLLAELSRERGELQGERGELRGRLARLELERAQLEMQSQQLRESNQQLDLSACRLTTQCELLTQLRSAQEEENRQLLAEVQALSRENRELLERSLESRDHLHREQREYLDQLNALRREKQKLVEKIMDQYRVLEPVPLPRTKKGSWLADKVKRLMRPRREGGPPGGLRLGADGAGSTESLGGPPETELPEGREADGTGSPSPAPMRRAQSSLCLRDETLAGGQRRKLSSRFPVGRSSESFSPGDTPRQRFRQRHPGPLGAPVSHSKGPGVGWENSAETLQEHETDANREGPEVQEPEKRPLTPSLSQ" } }, { "url": "https://www.uniprot.org/uniprot/A6NC98#A6NC98-2", "isoform_ac": "A6NC98-2", "locus": {}, "sequence": { "header": "sp|A6NC98-2|CC88B_HUMAN Isoform 2 of Coiled-coil domain-containing protein 88B OS=Homo sapiens OX=9606 GN=CCDC88B PE=1 SV=1 CANONICAL=A6NC98-1", "length": 1034, "sequence": "MEGGKGPRLRDFLSGSLATWALGLAGLVGEAEDSEGEEEEEEEEPPLWLEKRFLRLSDGALLLRVLGIIAPSSRGGPRMLRGLDGPAAWRVWNLNHLWGRLRDFYQEELQLLILSPPPDLQTLGFDPLSEEAVEQLEGVLRLLLGASVQCEHRELFIRHIQGLSLEVQSELAAAIQEVTQPGAGVVLALSGPDPGELAPAELEMLSRSLMGTLSKLARERDLGAQRLAELLLEREPLCLRPEAPSRAPAEGPSHHLALQLANAKAQLRRLRQELEEKAELLLDSQAEVQGLEAEIRRLRQEAQALSGQAKRAELYREEAEALRERAGRLPRLQEELRRCRERLQAAEAYKSQLEEERVLSGVLEASKALLEEQLEAARERCARLHETQRENLLLRTRLGEAHAELDSLRHQVDQLAEENVELELELQRSLEPPPGSPGEAPLAGAAPSLQDEVREAEAGRLRTLERENRELRGLLQVLQGQPGGQHPLLEAPREDPVLPVLEEAPQTPVAFDHSPQGLVQKARDGGPQALDLAPPALDSVLEASAECPQAPDSDPQEAESPLQAAAMDPQASDWSPQESGSPVETQESPEKAGRRSSLQSPASVAPPQGPGTKIQAPQLLGGETEGREAPQGELVPEAWGLRQEGPEHKPGPSEPSSVQLEEQEGPNQGLDLATGQAEAREHDQRLEGTVRDPAWQKPQQKSEGALEVQVWEGPIPGESLASGVAEQEALREEVAQLRRKAEALGDELEAQARKLEAQNTEAARLSKELAQARRAEAEAHREAEAQAWEQARLREAVEAAGQELESASQEREALVEALAAAGRERRQWEREGSRLRAQSEAAEERMQVLESEGRQHLEEAERERREKEALQAELEKAVVRGKELGDRLEHLQRELEQAALERQEFLREKESQHQRYQGLEQRLEAELQAAATSKEEALMELKTRALQLEEELFQLRQGPAGLGPKKRAEPQLVETQNVRLIEVERSVSVGPQWALGRCPVQCECGSTVDPGLGGIPCSVSVDSQWARGWGCPMQ" } }, { "url": "https://www.uniprot.org/uniprot/A6NC98#A6NC98-3", "isoform_ac": "A6NC98-3", "locus": {}, "sequence": { "header": "sp|A6NC98-3|CC88B_HUMAN Isoform 3 of Coiled-coil domain-containing protein 88B OS=Homo sapiens OX=9606 GN=CCDC88B PE=1 SV=1 CANONICAL=A6NC98-1", "length": 621, "sequence": "MGGAGALGGAGGVQGAAGRAAGGCPRALRPAARDPAREPAAANPAGRGPCGKELDSLRHQVDQLAEENVELELELQRSLEPPPGSPGEAPLAGAAPSLQDEVREAEAGRLRTLERENRELRGLLQVLQGQPGGQHPLLEAPREDPVLPVLEEAPQTPVAFDHSPQGLVQKARDGGPQALDLAPPALDSVLEASAECPQAPDSDPQEAESPLQAAAMDPQASDWSPQESGSPVETQESPEKAGRRSSLQSPASVAPPQGPGTKIQAPQLLGGETEGREAPQGELVPEAWGLRQEGPEHKPGPSEPSSVQLEEQEGPNQGLDLATGQAEAREHDQRLEGTVRDPAWQKPQQKSEGALEVQVWEGPIPGESLASGVAEQEALREEVAQLRRKAEALGDELEAQARKLEAQNTEAARLSKELAQARRAEAEAHREAEAQAWEQARLREAVEAAGQELESASQEREALVEALAAAGRERRQWEREGSRLRAQSEAAEERMQVLESEGRQHLEEAERERREKEALQAELEKAVVRGKELGDRLEHLQRELEQAALERQEFLREKESQHQRYQGLEQRLEAELQAAATSKEEALMELKTRALQLEEELFQVMPARLGAGGHATLPSIP" } }, { "url": "https://www.uniprot.org/uniprot/A6NC98#A6NC98-4", "isoform_ac": "A6NC98-4", "locus": {}, "sequence": { "header": "sp|A6NC98-4|CC88B_HUMAN Isoform 4 of Coiled-coil domain-containing protein 88B OS=Homo sapiens OX=9606 GN=CCDC88B PE=1 SV=1 CANONICAL=A6NC98-1", "length": 1358, "sequence": "MEGGKGPRLRDFLSGSLATWALGLAGLVGEAEDSEGEEEEEEEEPPLWLEKRFLRLSDGALLLRVLGIIAPSSRGGPRMLRGLDGPAAWRVWNLNHLWGRLRDFYQEELQLLILSPPPDLQTLGFDPLSEEAVEQLEGVLRLLLGASVQCEHRELFIRHIQGLSLEVQSELAAAIQEVTQPGAGVVLALSGPDPGELAPAELEMLSRSLMGTLSKLARERDLGAQRLAELLLEREPLCLRPEAPSRAPAEGPSHHLALQLANAKAQLRRLRQELEEKAELLLDSQAEVQGLEAEIRRLRQEAQALSGQAKRAELYREEAEALRERAGRLPRLQEELRRCRERLQAAEAYKSQLEEERVLSGVLEASKALLEEQLEAARERCARLHETQRENLLLRTRLGEAHAELDSLRHQVDQLAEENVELELELQRSLEPPPGSPGEAPLAGAAPSLQDEVREAEAGRLRTLERENRELRGLLQVLQGQPGGQHPLLEAPREDPVLPVLEEAPQTPVAFDHSPQGLVQKARDGGPQALDLAPPALDSVLEASAECPQAPDSDPQEAESPLQAAAMDPQASDWSPQESGSPVETQESPEKAGRRSSLQSPASVAPPQGPGTKIQAPQLLGGETEGREAPQGELVPEAWGLRQEGPEHKPGPSEPSSVQLEEQEGPNQGLDLATGQAEAREHDQRLEGTVRDPAWQKPQQKSEGALEVQVWEGPIPGESLASGVAEQEALREEVAQLRRKAEALGDELEAQARKLEAQNTEAARLSKELAQARRAEAEAHREAEAQAWEQARLREAVEAAGQELESASQEREALVEALAAAGRERRQWEREGSRLRAQSEAAEERMQVLESEGRQHLEEAERERREKEALQAELEKAVVRGKELGDRLEHLQRELEQAALERQEFLREKESQHQRYQGLEQRLEAELQAAATSKEEALMELKTRALQLEEELFQLRQGPAGLGPKKRAEPQLVETQNVRLIEVERSNAMLVAEKAALQGQLQHLEGQLGSLQGRAQELLLAERERLMQDGHRQRGLEEELRRLQSEHDRAQMLLAELSRERGELQGERGELRGRLARLELERAQLEMQSQQLRESNQQLDLSACRLTTQCELLTQLRSAQEEENRQLLAEVQALSRENRELLERSLESRDHLHREQREYLDQLNALRREKQKLVEKIMDQYRVLEPVPLPRTKKGSWLADKVKRLMRPRREGGPPGGLRLGADGAGSTESLGGPPETELPEGREADGTGSPSPAPMRRAQSSLCLRDETLAGGQRRKLSSRFPVGRSSESFSPGDTPRQRFRQRHPGPLGAPVSHSKGPGVGWENSAETLQEHETDANREGPEVQEPEKRPLTPSLSQ" } }, { "url": "https://www.uniprot.org/uniprot/A6NC98#A6NC98-5", "isoform_ac": "A6NC98-5", "locus": {}, "sequence": { "header": "sp|A6NC98-5|CC88B_HUMAN Isoform 5 of Coiled-coil domain-containing protein 88B OS=Homo sapiens OX=9606 GN=CCDC88B PE=1 SV=1 CANONICAL=A6NC98-1", "length": 696, "sequence": "MKNRGLREELEKAVVRGKELGDRLEHLQRELEQAALERQEFLREKESQHQRYQGLEQRLEAELQAAATSKEEALMELKTRALQLEEELFQLRQGPAGLGPKKRAEPQLVETQNVRLIEVERSNAMLVAEKAALQGQLQHLEGQLGSLQGRAQELLLQSQRAQEHSSRLQAEKSVLEIQGQELHRKLEVLEEEVRAARQSQEETRGQQQALLRDHKALAQLQRRQEAELEGLLVRHRDLKANMRALELAHRELQGRHEQLQAQRASVEAQEVALLAERERLMQDGHRQRGLEEELRRLQSEHDRAQMLLAELSRERGELQGERGELRGRLARLELERAQLEMQSQQLRESNQQLDLSACRLTTQCELLTQLRSAQEEENRQLLAEVQALSRENRELLERSLESRDHLHREQREYLDQLNALRREKQKLVEKIMDQYRVLEPVPLPRTKKGSWLADKGPLPRHPCAGPRAPSACGMRPWQAGSGGNSAQGSRWGEALSHSALGTPLGNDSDSAIQAPWGRPSPTAKDLVWDGRTPLRPCRNTKQMPTERALRYRNRRNVPSPHPSASDTVGTAGLGVQPSRHWSVSGGPRQPKSSGSQGPQGESLDKEAWALRSSTVSAGARRWSWDECVDRGDGWPPRAAPGWSSGSSRWLPLRQRSLGDPPAEGGWQELAREPPALSRWEAESQCWGTVAWADLEP" } }, { "url": "https://www.uniprot.org/uniprot/A6NC98#A6NC98-6", "isoform_ac": "A6NC98-6", "locus": { "end_pos": 64353726, "strand": "-", "start_pos": 64357091, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000301897", "id": "ENST00000301897", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000301897", "id": "ENSP00000301897", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A6NC98-6|CC88B_HUMAN Isoform 6 of Coiled-coil domain-containing protein 88B OS=Homo sapiens OX=9606 GN=CCDC88B PE=1 SV=1 CANONICAL=A6NC98-1", "length": 139, "sequence": "MPCAARSRSSWRRSWTNTACWSLCPCPGPRSPSPAPMRRAQSSLCLRDETLAGGQRRKLSSRFPVGRSSESFSPGDTPRQRFRQRHPGPLGAPVSHSKGPGVGWENSAETLQEHETDANREGPEVQEPEKRPLTPSLSQ" } }, { "url": "https://www.uniprot.org/uniprot/A6NC98#H7BY33-1", "isoform_ac": "H7BY33-1", "locus": { "end_pos": 64348981, "strand": "-", "start_pos": 64357485, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000359902", "id": "ENST00000359902", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000352974", "id": "ENSP00000352974", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7BY33-1|CC88B_HUMAN Computationally mapped isoform of Coiled-coil domain-containing protein 88B OS=Homo sapiens OX=9606 GN=CCDC88B PE=1 SV=1 CANONICAL=A6NC98-1", "length": 712, "sequence": "MAGVAAHRAHPPFTAHMKNRGLREELEKAVVRGKELGDRLEHLQRELEQAALERQEFLREKESQHQRYQGLEQRLEAELQAAATSKEEALMELKTRALQLEEELFQLRQGPAGLGPKKRAEPQLVETQNVRLIEVERSNAMLVAEKAALQGQLQHLEGQLGSLQGRAQELLLQSQRAQEHSSRLQAEKSVLEIQGQELHRKLEVLEEEVRAARQSQEETRGQQQALLRDHKALAQLQRRQEAELEGLLVRHRDLKANMRALELAHRELQGRHEQLQAQRASVEAQEVALLAERERLMQDGHRQRGLEEELRRLQSEHDRAQMLLAELSRERGELQGERGELRGRLARLELERAQLEMQSQQLRESNQQLDLSACRLTTQCELLTQLRSAQEEENRQLLAEVQALSRENRELLERSLESRDHLHREQREYLDQLNALRREKQKLVEKIMDQYRVLEPVPLPRTKKGSWLADKGPLPRHPCAGPRAPSACGMRPWQAGSGGNSAQGSRWGEALSHSALGTPLGNDSDSAIQAPWGRPSPTAKDLVWDGRTPLRPCRNTKQMPTERALRYRNRRNVPSPHPSASDTVGTAGLGVQPSRHWSVSGGPRQPKSSGSQGPQGESLDKEAWALRSSTVSAGARRWSWDECVDRGDGWPPRAAPGWSSGSSRWLPLRQRSLGDPPAEGGWQELAREPPALSRWEAESQCWGTVAWADLEP" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:283234", "resource": "KEGG Pathway", "id": "hsa:283234", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115627.6", "annotation": "A critical function of CCDC88B in colonic inflammation and inflammatory bowel disease Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115627.6", "id": "NP_115627.6", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115627.6", "annotation": "A genotype dataset found a sarcoidosis risk locus on chromosome 11q13.1, a risk region for Crohn disease. An allele-dependent expression of CCDC88B was found in bronchoalveolar lavage samples of German, Swedish and Czech patients with sarcoidosis.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115627.6", "id": "NP_115627.6", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A6NC98#function", "annotation": "Acts as a positive regulator of T-cell maturation and inflammatory function. Required for several functions of T-cells, in both the CD4(+) and the CD8(+) compartments and this includes expression of cell surface markers of activation, proliferation, and cytokine production in response to specific or non-specific stimulation (By similarity). Enhances NK cell cytotoxicity by positively regulating polarization of microtubule-organizing center (MTOC) to cytotoxic synapse, lytic granule transport along microtubules, and dynein-mediated clustering to MTOC (PubMed:25762780). Interacts with HSPA5 and stabilizes the interaction between HSPA5 and ERN1, leading to suppression of ERN1-induced JNK activation and endoplasmic reticulum stress-induced apoptosis (PubMed:21289099).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98#function", "id": "A6NC98", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115627.6", "annotation": "Data show that a novel Girdin family protein, Gipie, is expressed in endothelial cells, where it interacts with GRP78, a master regulator of the UPR, and that Gipie/GRP78 interaction controls the IRE1-JNK signaling pathway.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115627.6", "id": "NP_115627.6", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115627.6", "annotation": "Results demonstrate an important role for HkRP3 in regulating the clustering of lytic granules and MTOC repositioning during the development of NK cell-mediated killing.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115627.6", "id": "NP_115627.6", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZTC4-1", "protein_name": "Coiled-coil domain-containing 88B", "sequence": { "length": 1476, "sequence": "MEGAKGPRLRDFLSGSLATWALGLAGLVGEAEESSGTEEEEEEEEEGPLCTERRFLKLISGDLLLRVLGIIAPSSRGRLQMVKGHDGPAACRIWNLYHLWGRLRDFYQEELQLLILSPPPDLQTLGFDPFSEEAVDELEGILRLLLGASVQCEHRELFIRHIQGLSLDVQSELAAAIQEVTQPGAGVVLALTGPESAELVAEELEMQLRNLMGTMSRLVRERDLGAQRLAEVLLEREPAHLLLPEASANASAEGPSHHLALQLTNAKAQLRRLRQEVEEKAELLLDSQAEVQGLESEIRRLRQETQALSGQAKRAELYREEAEALRERAGRLPRLQEELRRCRERLHAAEVFKGQLEEERVLSGALEASKVLLEEQLEIARERSARLHETQRENLLLRTRLGEAHADLDSLRHQLEQLVEENVELELELQRSLEPPPGSPGETSLPGAAPSLQDEVREAEAGRLRTVEQENRTLRGQLQMLREQLDSQRPLLEEQSKDSMLPVTNGAPAAPLALDHSPKSLACQIGGEGPGSLDLPSPASYSGITRLSECLQAPDSHPELDSPFQMVSQDPQTSDQTQESDPTGEAHQSLEKSGHRVSVQSPIVWDPPQGAEIRIDVQELGETGSREASEGESVPEAQVLKQENPECRPRSAEFILLEPLKDQKTLEPELELSKQQTETGGHEQRPKGLVNKLVLQKPQQTSEGPPDAWSREEPIPGETLATAIPEEQALRDEVAQLRREVVSLEAKLQAQAQRLEARSAEAVSLSEELAQARRTEAEAHLEVEARAREQARLREAVDAASLELEAASREREALAEALAAAGRERRQWEREGPRLRAQVEAAEQQVQALESQVRCHLEEAEREHLEKQALREELEKAVVRGQELGDRLEHLQRELEQAALERQKFLQERESQHQRYQHLEQRLEAELQAASTNKEEALMKLKARALQLEEELIQLRQYPVDQATEVRAEPRTVETQNGRLIEVERNNATLVAEKAALQGQLQHLEGQLGSLQGRAQELLLQSQRAQEHSSRLQAEKSMMEIQGQELHRKLGVLEEEVRVARRAQEETRGQQQALLRDHEALVQLQRRQETELEGLLVRHRDLKANMRALELAHRELQGRHEQLQAQRASVEAQEVALLAERERLMQDGHRQRGLEEELRRLQNEHDRAQMLLAEVSRERGELQGERGELRSRLARLELERAQLEIQSQKLRESNQQLDLSACRLTTQCELLTQLRSAQEEENRQLLAEVQALSRENRELLERSLESRDHLHREQREYLDQLNALRREKQKLVEKIMDQYRVLEPGPLPRTKKGSWLADKVKRLIRPRREGALHGGPRLGADGAGSTESLGGPLETELPEGREADGTGSSSPAPMRRAQSSLCLGDENLAGGQRRRLSSRFPAGRSSASFSPGDTPRQRFRQRRPGPLGAPSSHSKGSGVEWDGSIETLSEHEADATGEALQEQKPEKQFLTSSLSQ" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A6NC98/", "id": "A6NC98", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/49992", "id": "49992", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Ccdc88b", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q4QRL3-1", "protein_name": "Coiled-coil domain-containing protein 88B", "sequence": { "length": 1481, "sequence": "MEGAKGPRLRGFLSGSLATWALGLAGLVGEAEESAGGTEEEEEEEEEEGALCTEKRFLRLIDGALLLRVLGIIAPSSRGGLRMVRGRDGPAACRMWNLCHLWGRLRDFYQEELQLLILSPPPDLQTMGCDPFSEEAVDELESILRLLLGASVQCEHRELFIRHIRGLSLDVQSELAGAIQEVTQPGAGVVLALAGPESGELVAEELEMQLRSLTGMMSRLARERDLGAQRLAELLLEREPAHLLLPEAPANASAEGVSHHLALQLTNAKAQLRRLRQEVEEKAEQLLDSQAEVQGLEAEIRRLRQETQALSAQAKRAELYREEAEALRERAGRLPRLQEELRRCREKLQAAEVFKGQLEEERVLSEALEASKVLLEEQLEVARERSARLHETQRENLLLRTRLGEAHADLDSLRHQLEQLVEENVELELELQRSLEPPPGSPGEASLPGAAPSLQDEVREAEAGRLRAVERENRELRGQLQMLQAQLGSQHPLLEEQRENSRQPPVPNRDPATPSALHHSPQSPACQIGGEGSESLDLPSPASYSDITRSPKCSQAPDSHPELESPLQMVSQDPQTSDQALQESDPTVETHQCLEKSGHRVPLQSPIVWDPPQGPEVRIEVQELLGETGSREAPQGELVHKAQVLKQESPKCRPRSAELTLREPLKDQKALDRELELSKQQKETGRHEQRPKGLESKLGPQKPQQTSEGVPDAWSREEPTPGETLVSAIPEEQALRDEVAQLRREVAGLEVKLQAQAQRLEARSAEALCLSEELAQARRTEAEAHQEAEAQAREQARLREAVDTASLELEAASREREALAEALAAAGRERRQWERDGPRLRAQVEAAEQQVQALESQVRCHLEEAEREHAEKQALREELEKAVLRGQELGDRLEHLQEELEQAALERQKFLQEQENQHQRYRHLEQRLEAELQAASTSKEEALMELKARALQLEEELIQLRQYPVDLATGARAGPRTVETQNGRLIEVERNNATLVAEKAALQGQLQHLEGQLGSLQGRAQELLLQSQRAQEHSSRLQAEKSMMEMQGQELHRKLGVLEEEVRAARRAQEETRGQQQALLRDHEALVQLQRRQETELEGLLVRHRDLKANMRALELAHRELQGRHEQLQAQRANVEAQEVALLAERERLMQDGHRQRGLEEELRRLQNEHERAQMLLAEVSRERGELQGERGELRSRLARLELERAQLEIQSQQLRESNQQLDLSACRLTTQCELLTQLRSAQEEENRQLLAEVQALSRENRELLERSLESRDHLHREQREYLDQLNALRREKQKLVEKIMDQYRVLEPGPLPRTKKGSWLADKVKRLIRPRREGALHGGPRLGADGAGSTESLGGPLETELPEGREADGTGSSSPAPMRRVQSSLCLGDETLAGGQRRRLSSRFPGGRSSASFSPGDTPRQRFRQRRPGPLGAPSTHSKGSGVEWDGSIKTLSEHEADDTREAFQEQKPEKQFLTPSLSQ" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A6NC98/", "id": "A6NC98", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/49992", "id": "49992", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Ccdc88b", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "Q", "start_pos": 1007, "alt_nt": "G", "chr_id": "11", "ref_nt": "A", "chr_pos": "64119009", "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/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "R", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 1007, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "R", "start_pos": 1068, "alt_nt": "A", "chr_id": "11", "ref_nt": "G", "chr_pos": "64119705", "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/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "H", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 1068, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "L", "start_pos": 1081, "alt_nt": "C", "chr_id": "11", "ref_nt": "T", "chr_pos": "64119744", "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/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "P", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 1081, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "E", "start_pos": 1157, "alt_nt": "A", "chr_id": "11", "ref_nt": "G", "chr_pos": "64120328", "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/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.1", "sequence_mut": "K", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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"name": "Brain leucine zipper domain-containing protein" }, { "url": "https://www.uniprot.org/uniprot/A6NC98#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Coiled-coil domain-containing protein 88B" }, { "url": "https://www.uniprot.org/uniprot/A6NC98#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Gipie" }, { "url": "https://www.uniprot.org/uniprot/A6NC98#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "HkRP3" }, { "url": "https://www.uniprot.org/uniprot/A6NC98#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Hook-related protein 3" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A6NC98", "type": "synonym", "resource": "RefSeq", "name": "brain leucine zipper protein; hook-related protein 3; brain leucine zipper domain-containing protein; coiled-coil domain-containing protein 88B; 78 kDa glucose-regulated protein [GRP78]-interacting protein induced by ER stress; GRP78-interacting protein induced by ER stress; coiled-coil domain containing 88" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A6NC98", "type": "synonym", "resource": "RefSeq", "name": "coiled-coil domain-containing protein 88B precursor" } ] }