{ "uniprot_canonical_ac": "A6NC98-1", "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": [], "synonyms": { "protein": { "refseq": [ "coiled-coil domain-containing protein 88B precursor", "78 kDa glucose-regulated protein [GRP78]-interacting protein induced by ER stress; coiled-coil domain-containing protein 88B; brain leucine zipper protein; hook-related protein 3; brain leucine zipper domain-containing protein; GRP78-interacting protein induced by ER stress; coiled-coil domain containing 88" ], "uniprotkb": [ "Coiled-coil domain-containing protein 88B", "Hook-related protein 3", "HkRP3", "Brain leucine zipper domain-containing protein", "Gipie" ] }, "gene": { "refseq": [ "CCDC88B", "BRLZ", "CCDC88", "gipie", "HKRP3" ], "uniprotkb": [ "CCDC88B", "BRLZ", "CCDC88", "gipie", "HKRP3" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98", "id": "A6NC98", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Coiled-coil domain-containing protein 88B; Hook-related protein 3; HkRP3; Brain leucine zipper domain-containing protein; Gipie." }, "publication": [ { "title": "CCDC88B is required for pathogenesis of inflammatory bowel disease.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/29030607", "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", "pmid": "29030607" }, { "title": "HkRP3 is a microtubule-binding protein regulating lytic granule clustering and NK cell killing.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/25762780", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "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/publications", "id": "A6NC98", "database": "UniProtKB" } ], "authors": "Ham H, Huynh W, Schoon RA, Vale RD, Billadeau DD", "date": "2015", "pmid": "25762780" }, { "title": "Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23128233", "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", "pmid": "23128233" }, { "title": "A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/22837380", "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", "pmid": "22837380" }, { "title": "Protective role of Gipie, a Girdin family protein, in endoplasmic reticulum stress responses in endothelial cells.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/21289099", "journal": "Molecular biology of the cell", "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/publications", "id": "A6NC98", "database": "UniProtKB" } ], "authors": "Matsushita E, Asai N, Enomoto A, Kawamoto Y, Kato T, Mii S, Maeda K, Shibata R, Hattori S, Hagikura M, Takahashi K, Sokabe M, Murakumo Y, Murohara T, Takahashi M", "date": "2011", "pmid": "21289099" }, { "title": "A novel hook-related protein family and the characterization of hook-related protein 1.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/15882442", "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", "pmid": "15882442" }, { "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/11230166", "journal": "Genome Res.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98/publications", "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", "pmid": "11230166" } ], "glycosylation": [], "mutation": [ { "start_pos": 1271, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "H", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "Q", "subjects_tested": "50", "end_pos": 1271, "type": "Point mutation" }, { "start_pos": 692, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "frequency": "2.1", "annotation": "Filters passed (1/5): patient freq. (2.1%).", "sequence_org": "D", "disease": { "doid": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "icd10": "", "name": "Hematologic cancer" }, "sequence_mut": "E", "subjects_tested": "48", "end_pos": 692, "type": "Point mutation" }, { "start_pos": 1341, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "frequency": "2.6", "annotation": "Filters passed (1/5): patient freq. (2.6%).", "sequence_org": "D", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "N", "subjects_tested": "38", "end_pos": 1341, "type": "Point mutation" }, { "start_pos": 1186, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "frequency": "2.1", "annotation": "Filters passed (1/5): patient freq. (2.1%).", "sequence_org": "R", "disease": { "doid": "2531", "url": "http://disease-ontology.org/term/DOID:2531", "icd10": "", "name": "Hematologic cancer" }, "sequence_mut": "H", "subjects_tested": "48", "end_pos": 1186, "type": "Point mutation" }, { "start_pos": 1081, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. 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(2.0%).", "sequence_org": "E", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "K", "subjects_tested": "50", "end_pos": 250, "type": "Point mutation" }, { "start_pos": 302, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "A", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "T", "subjects_tested": "50", "end_pos": 302, "type": "Point mutation" }, { "start_pos": 856, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. 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(1.0%).", "sequence_org": "Q", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "E", "subjects_tested": "103", "end_pos": 266, "type": "Point mutation" }, { "start_pos": 249, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "A", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "T", "subjects_tested": "50", "end_pos": 249, "type": "Point mutation" }, { "start_pos": 914, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "Q", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "*", "subjects_tested": "50", "end_pos": 914, "type": "Point mutation" }, { "start_pos": 1007, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "Q", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "R", "subjects_tested": "50", "end_pos": 1007, "type": "Point mutation" }, { "start_pos": 1198, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "L", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "M", "subjects_tested": "50", "end_pos": 1198, "type": "Point mutation" }, { "start_pos": 67, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "G", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "D", "subjects_tested": "50", "end_pos": 67, "type": "Point mutation" }, { "start_pos": 809, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "Q", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "H", "subjects_tested": "50", "end_pos": 809, "type": "Point mutation" }, { "start_pos": 1353, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "P", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "R", "subjects_tested": "50", "end_pos": 1353, "type": "Point mutation" }, { "start_pos": 23, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "G", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "R", "subjects_tested": "50", "end_pos": 23, "type": "Point mutation" }, { "start_pos": 360, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (1/5): patient freq. (1.5%).", "sequence_org": "S", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "L", "subjects_tested": "66", "end_pos": 360, "type": "Point mutation" }, { "start_pos": 1068, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC98", "id": "A6NC98", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "R", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "H", "subjects_tested": "50", "end_pos": 1068, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A6NC98#A6NC98-1", "isoform_ac": "A6NC98-1", "locus": { "end_pos": 64340267, "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#H7BY33-1", "isoform_ac": "H7BY33-1", "locus": { "end_pos": 64348981, "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" } }, { "url": "https://www.uniprot.org/uniprot/A6NC98#A6NC98-2", "isoform_ac": "A6NC98-2", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "", "evidence": [] }, "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": { "end_pos": 0, "start_pos": 0, "chromosome": "", "evidence": [] }, "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": { "end_pos": 0, "start_pos": 0, "chromosome": "", "evidence": [] }, "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": { "end_pos": 0, "start_pos": 0, "chromosome": "", "evidence": [] }, "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, "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" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:283234", "resource": "KEGG Pathway", "id": "hsa:283234", "name": "" } ], "function": [ { "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": "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": "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" } ] }, { "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.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" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZTC4-1", "protein_name": "Coiled-coil domain-containing 88B.", "sequence": { "length": 1476, "sequence": "MEGAKGPRLRDFLSGSLATWALGLAGLVGEAEESSGTEEEEEEEEEGPLCTERRFLKLISGDLLLRVLGIIAPSSRGRLQMVKGHDGPAACRIWNLYHLWGRLRDFYQEELQLLILSPPPDLQTLGFDPFSEEAVDELEGILRLLLGASVQCEHRELFIRHIQGLSLDVQSELAAAIQEVTQPGAGVVLALTGPESAELVAEELEMQLRNLMGTMSRLVRERDLGAQRLAEVLLEREPAHLLLPEASANASAEGPSHHLALQLTNAKAQLRRLRQEVEEKAELLLDSQAEVQGLESEIRRLRQETQALSGQAKRAELYREEAEALRERAGRLPRLQEELRRCRERLHAAEVFKGQLEEERVLSGALEASKVLLEEQLEIARERSARLHETQRENLLLRTRLGEAHADLDSLRHQLEQLVEENVELELELQRSLEPPPGSPGETSLPGAAPSLQDEVREAEAGRLRTVEQENRTLRGQLQMLREQLDSQRPLLEEQSKDSMLPVTNGAPAAPLALDHSPKSLACQIGGEGPGSLDLPSPASYSGITRLSECLQAPDSHPELDSPFQMVSQDPQTSDQTQESDPTGEAHQSLEKSGHRVSVQSPIVWDPPQGAEIRIDVQELGETGSREASEGESVPEAQVLKQENPECRPRSAEFILLEPLKDQKTLEPELELSKQQTETGGHEQRPKGLVNKLVLQKPQQTSEGPPDAWSREEPIPGETLATAIPEEQALRDEVAQLRREVVSLEAKLQAQAQRLEARSAEAVSLSEELAQARRTEAEAHLEVEARAREQARLREAVDAASLELEAASREREALAEALAAAGRERRQWEREGPRLRAQVEAAEQQVQALESQVRCHLEEAEREHLEKQALREELEKAVVRGQELGDRLEHLQRELEQAALERQKFLQERESQHQRYQHLEQRLEAELQAASTNKEEALMKLKARALQLEEELIQLRQYPVDQATEVRAEPRTVETQNGRLIEVERNNATLVAEKAALQGQLQHLEGQLGSLQGRAQELLLQSQRAQEHSSRLQAEKSMMEIQGQELHRKLGVLEEEVRVARRAQEETRGQQQALLRDHEALVQLQRRQETELEGLLVRHRDLKANMRALELAHRELQGRHEQLQAQRASVEAQEVALLAERERLMQDGHRQRGLEEELRRLQNEHDRAQMLLAEVSRERGELQGERGELRSRLARLELERAQLEIQSQKLRESNQQLDLSACRLTTQCELLTQLRSAQEEENRQLLAEVQALSRENRELLERSLESRDHLHREQREYLDQLNALRREKQKLVEKIMDQYRVLEPGPLPRTKKGSWLADKVKRLIRPRREGALHGGPRLGADGAGSTESLGGPLETELPEGREADGTGSSSPAPMRRAQSSLCLGDENLAGGQRRRLSSRFPAGRSSASFSPGDTPRQRFRQRRPGPLGAPSSHSKGSGVEWDGSIETLSEHEADATGEALQEQKPEKQFLTSSLSQ" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/49992", "id": "49992", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A6NC98/", "id": "A6NC98", "database": "OMA" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q4QRL3-1", "protein_name": "Coiled-coil domain-containing protein 88B; Hook-related protein 3; HkRP3; Gipie.", "sequence": { "length": 1481, "sequence": "MEGAKGPRLRGFLSGSLATWALGLAGLVGEAEESAGGTEEEEEEEEEEGALCTEKRFLRLIDGALLLRVLGIIAPSSRGGLRMVRGRDGPAACRMWNLCHLWGRLRDFYQEELQLLILSPPPDLQTMGCDPFSEEAVDELESILRLLLGASVQCEHRELFIRHIRGLSLDVQSELAGAIQEVTQPGAGVVLALAGPESGELVAEELEMQLRSLTGMMSRLARERDLGAQRLAELLLEREPAHLLLPEAPANASAEGVSHHLALQLTNAKAQLRRLRQEVEEKAEQLLDSQAEVQGLEAEIRRLRQETQALSAQAKRAELYREEAEALRERAGRLPRLQEELRRCREKLQAAEVFKGQLEEERVLSEALEASKVLLEEQLEVARERSARLHETQRENLLLRTRLGEAHADLDSLRHQLEQLVEENVELELELQRSLEPPPGSPGEASLPGAAPSLQDEVREAEAGRLRAVERENRELRGQLQMLQAQLGSQHPLLEEQRENSRQPPVPNRDPATPSALHHSPQSPACQIGGEGSESLDLPSPASYSDITRSPKCSQAPDSHPELESPLQMVSQDPQTSDQALQESDPTVETHQCLEKSGHRVPLQSPIVWDPPQGPEVRIEVQELLGETGSREAPQGELVHKAQVLKQESPKCRPRSAELTLREPLKDQKALDRELELSKQQKETGRHEQRPKGLESKLGPQKPQQTSEGVPDAWSREEPTPGETLVSAIPEEQALRDEVAQLRREVAGLEVKLQAQAQRLEARSAEALCLSEELAQARRTEAEAHQEAEAQAREQARLREAVDTASLELEAASREREALAEALAAAGRERRQWERDGPRLRAQVEAAEQQVQALESQVRCHLEEAEREHAEKQALREELEKAVLRGQELGDRLEHLQEELEQAALERQKFLQEQENQHQRYRHLEQRLEAELQAASTSKEEALMELKARALQLEEELIQLRQYPVDLATGARAGPRTVETQNGRLIEVERNNATLVAEKAALQGQLQHLEGQLGSLQGRAQELLLQSQRAQEHSSRLQAEKSMMEMQGQELHRKLGVLEEEVRAARRAQEETRGQQQALLRDHEALVQLQRRQETELEGLLVRHRDLKANMRALELAHRELQGRHEQLQAQRANVEAQEVALLAERERLMQDGHRQRGLEEELRRLQNEHERAQMLLAEVSRERGELQGERGELRSRLARLELERAQLEIQSQQLRESNQQLDLSACRLTTQCELLTQLRSAQEEENRQLLAEVQALSRENRELLERSLESRDHLHREQREYLDQLNALRREKQKLVEKIMDQYRVLEPGPLPRTKKGSWLADKVKRLIRPRREGALHGGPRLGADGAGSTESLGGPLETELPEGREADGTGSSSPAPMRRVQSSLCLGDETLAGGQRRRLSSRFPGGRSSASFSPGDTPRQRFRQRRPGPLGAPSTHSKGSGVEWDGSIKTLSEHEADDTREAFQEQKPEKQFLTPSLSQ" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/49992", "id": "49992", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A6NC98/", "id": "A6NC98", "database": "OMA" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115627.6", "ac": "NP_115627.6", "name": "coiled-coil domain-containing protein 88B precursor; 78 kDa glucose-regulated protein [GRP78]-interacting protein induced by ER stress; coiled-coil domain-containing protein 88B; brain leucine zipper protein; hook-related protein 3; brain leucine zipper domain-containing protein; GRP78-interacting protein induced by ER stress; coiled-coil domain containing 88.", "summary": "This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98", "id": "A6NC98", "database": "UniProtKB" } ], "name": "microtubule binding", "id": "GO:0008017" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051959", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98", "id": "A6NC98", "database": "UniProtKB" } ], "name": "dynein light intermediate chain binding", "id": "GO:0051959" } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98", "id": "A6NC98", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98", "id": "A6NC98", "database": "UniProtKB" } ], "name": "centrosome", "id": "GO:0005813" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98", "id": "A6NC98", "database": "UniProtKB" } ], "name": "membrane", "id": "GO:0016020" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98", "id": "A6NC98", "database": "UniProtKB" } ], "name": "endoplasmic reticulum", "id": "GO:0005783" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98", "id": "A6NC98", "database": "UniProtKB" } ], "name": "Golgi apparatus", "id": "GO:0005794" } ], "total": 5, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030705", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98", "id": "A6NC98", "database": "UniProtKB" } ], "name": "cytoskeleton-dependent intracellular transport", "id": "GO:0030705" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031122", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98", "id": "A6NC98", "database": "UniProtKB" } ], "name": "cytoplasmic microtubule organization", "id": "GO:0031122" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98", "id": "A6NC98", "database": "UniProtKB" } ], "name": "positive regulation of cytokine production", "id": "GO:0001819" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98", "id": "A6NC98", "database": "UniProtKB" } ], "name": "positive regulation of T cell proliferation", "id": "GO:0042102" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050870", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98", "id": "A6NC98", "database": "UniProtKB" } ], "name": "positive regulation of T cell activation", "id": "GO:0050870" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042832", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC98", "id": "A6NC98", "database": "UniProtKB" } ], "name": "defense response to protozoan", "id": "GO:0042832" } ], "total": 6, "name": "Biological Process" } ] }, "site_annotation": [], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115627.6", "id": "NP_115627.6", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=26757", "id": "26757", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A6NC98", "id": "A6NC98", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A6NC98", "id": "NX_A6NC98", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CCDC88B", "id": "CCDC88B", "database": "GeneCards" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:283234", "id": "hsa:283234", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/ACRLATQ/", "id": "ACRLATQ", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036872", "id": "IPR036872", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR008636", "id": "IPR008636", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF05622", "id": "PF05622", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A6NC98", "id": "PR_A6NC98", "database": "PRO" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A6NC98*", "id": "A6NC98", "database": "IntAct" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/283234", "id": "283234", "database": "GeneID" } ], "expression_disease": [ { "trend": "Up", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC98", "id": "A6NC98", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC98", "id": "A6NC98", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC98", "id": "A6NC98", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC98", "id": "A6NC98", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC98", "id": "A6NC98", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC98", "id": "A6NC98", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC98", "id": "A6NC98", "database": "BioXpress" } ] } ], "uniprot_ac": "A6NC98", "disease": [], "mass": { "monoisotopic_mass": 164809.0, "chemical_mass": 164809.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168071", "id": "ENSG00000168071", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A6NC98", "name": "CCDC88B; BRLZ; CCDC88; gipie; HKRP3.", "locus": { "end_pos": 64357534, "start_pos": 64340223, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000168071", "id": "ENSG00000168071", "database": "Ensembl Gene" } ] } } ] }