ID SDCG8_HUMAN Reviewed; 713 AA. AC Q86SQ7; O60527; Q3ZCR6; Q8N5F2; Q9P0F1; DT 10-JAN-2006, integrated into UniProtKB/Swiss-Prot. DT 01-JUN-2003, sequence version 1. DT 27-MAR-2024, entry version 163. DE RecName: Full=Serologically defined colon cancer antigen 8; DE AltName: Full=Antigen NY-CO-8; DE AltName: Full=Centrosomal colon cancer autoantigen protein; DE Short=hCCCAP; GN Name=SDCCAG8; Synonyms=CCCAP, NPHP10; ORFNames=HSPC085; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 4), ALTERNATIVE SPLICING, AND RP SUBCELLULAR LOCATION. RC TISSUE=Placenta; RX PubMed=12559564; DOI=10.1016/s0378-1119(02)01141-1; RA Kenedy A.A., Cohen K.J., Loveys D.A., Kato G.J., Dang C.V.; RT "Identification and characterization of the novel centrosome-associated RT protein CCCAP."; RL Gene 303:35-46(2003). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE RP [LARGE SCALE MRNA] OF 465-713 (ISOFORM 1). RC TISSUE=Brain, Hippocampus, Lung, and Testis; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA project: RT the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-393 (ISOFORM 1). RC TISSUE=Umbilical cord blood; RX PubMed=11042152; DOI=10.1101/gr.140200; RA Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., RA Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., RA Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.; RT "Cloning and functional analysis of cDNAs with open reading frames for 300 RT previously undefined genes expressed in CD34+ hematopoietic stem/progenitor RT cells."; RL Genome Res. 10:1546-1560(2000). RN [4] RP NUCLEOTIDE SEQUENCE [MRNA] OF 221-713 (ISOFORM 3), AND TISSUE SPECIFICITY. RC TISSUE=Colon carcinoma; RX PubMed=9610721; RX DOI=10.1002/(sici)1097-0215(19980529)76:5<652::aid-ijc7>3.0.co;2-p; RA Scanlan M.J., Chen Y.-T., Williamson B., Gure A.O., Stockert E., RA Gordan J.D., Tuereci O., Sahin U., Pfreundschuh M., Old L.J.; RT "Characterization of human colon cancer antigens recognized by autologous RT antibodies."; RL Int. J. Cancer 76:652-658(1998). RN [5] RP SUBCELLULAR LOCATION, INTERACTION WITH OFD1, INVOLVEMENT IN SLSN7, RP INVOLVEMENT IN BBS16, AND ALTERNATIVE SPLICING. RX PubMed=20835237; DOI=10.1038/ng.662; RA Otto E.A., Hurd T.W., Airik R., Chaki M., Zhou W., Stoetzel C., Patil S.B., RA Levy S., Ghosh A.K., Murga-Zamalloa C.A., van Reeuwijk J., Letteboer S.J., RA Sang L., Giles R.H., Liu Q., Coene K.L., Estrada-Cuzcano A., Collin R.W., RA McLaughlin H.M., Held S., Kasanuki J.M., Ramaswami G., Conte J., Lopez I., RA Washburn J., Macdonald J., Hu J., Yamashita Y., Maher E.R., RA Guay-Woodford L.M., Neumann H.P., Obermuller N., Koenekoop R.K., RA Bergmann C., Bei X., Lewis R.A., Katsanis N., Lopes V., Williams D.S., RA Lyons R.H., Dang C.V., Brito D.A., Dias M.B., Zhang X., Cavalcoli J.D., RA Nurnberg G., Nurnberg P., Pierce E.A., Jackson P.K., Antignac C., RA Saunier S., Roepman R., Dollfus H., Khanna H., Hildebrandt F.; RT "Candidate exome capture identifies mutation of SDCCAG8 as the cause of a RT retinal-renal ciliopathy."; RL Nat. Genet. 42:840-850(2010). RN [6] RP INTERACTION WITH FAM161A. RX PubMed=22940612; DOI=10.1093/hmg/dds368; RA Di Gioia S.A., Letteboer S.J., Kostic C., Bandah-Rozenfeld D., RA Hetterschijt L., Sharon D., Arsenijevic Y., Roepman R., Rivolta C.; RT "FAM161A, associated with retinitis pigmentosa, is a component of the RT cilia-basal body complex and interacts with proteins involved in RT ciliopathies."; RL Hum. Mol. Genet. 21:5174-5184(2012). RN [7] RP INVOLVEMENT IN BBS16. RX PubMed=22626039; DOI=10.3109/13816810.2012.689411; RA Billingsley G., Vincent A., Deveault C., Heon E.; RT "Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with RT renal involvement and absent polydactyly."; RL Ophthalmic Genet. 33:150-154(2012). RN [8] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-4 AND SER-28, AND RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Cervix carcinoma, and Erythroleukemia; RX PubMed=23186163; DOI=10.1021/pr300630k; RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., RA Mohammed S.; RT "Toward a comprehensive characterization of a human cancer cell RT phosphoproteome."; RL J. Proteome Res. 12:260-271(2013). RN [9] RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH RABEP2; ERC1 AND RP CEP131. RX PubMed=27224062; DOI=10.1371/journal.pone.0156081; RA Airik R., Schueler M., Airik M., Cho J., Ulanowicz K.A., Porath J.D., RA Hurd T.W., Bekker-Jensen S., Schroeder J.M., Andersen J.S., Hildebrandt F.; RT "SDCCAG8 interacts with RAB effector proteins RABEP2 and ERC1 and is RT required for Hedgehog Signaling."; RL PLoS ONE 11:E0156081-E0156081(2016). CC -!- FUNCTION: Plays a role in the establishment of cell polarity and CC epithelial lumen formation (By similarity). Also plays an essential CC role in ciliogenesis and subsequent Hedgehog signaling pathway that CC requires the presence of intact primary cilia for pathway activation. CC Mechanistically, interacts with and mediates RABEP2 centrosomal CC localization which is critical for ciliogenesis (PubMed:27224062). CC {ECO:0000250|UniProtKB:Q80UF4, ECO:0000269|PubMed:27224062}. CC -!- SUBUNIT: Homodimer (By similarity). Interacts with OFD1; the CC interaction is direct (PubMed:20835237). Interacts with FAM161A CC (PubMed:22940612). Interacts with RABEP2, ERC1 and CEP131 CC (PubMed:27224062). {ECO:0000250|UniProtKB:Q80UF4, CC ECO:0000269|PubMed:20835237, ECO:0000269|PubMed:22940612, CC ECO:0000269|PubMed:27224062}. CC -!- INTERACTION: CC Q86SQ7; Q9UPN4: CEP131; NbExp=3; IntAct=EBI-1047850, EBI-2558372; CC Q86SQ7; Q9H5N1: RABEP2; NbExp=3; IntAct=EBI-1047850, EBI-3940735; CC Q86SQ7; PRO_0000038593 [P04591]: gag; Xeno; NbExp=2; IntAct=EBI-1047850, EBI-6179719; CC Q86SQ7-2; Q86V38: ATN1; NbExp=3; IntAct=EBI-10696955, EBI-11954292; CC Q86SQ7-2; P28329-3: CHAT; NbExp=3; IntAct=EBI-10696955, EBI-25837549; CC Q86SQ7-2; P02489: CRYAA; NbExp=3; IntAct=EBI-10696955, EBI-6875961; CC Q86SQ7-2; P22607: FGFR3; NbExp=3; IntAct=EBI-10696955, EBI-348399; CC Q86SQ7-2; O14908-2: GIPC1; NbExp=3; IntAct=EBI-10696955, EBI-25913156; CC Q86SQ7-2; Q92876: KLK6; NbExp=3; IntAct=EBI-10696955, EBI-2432309; CC Q86SQ7-2; Q9Y649; NbExp=3; IntAct=EBI-10696955, EBI-25900580; CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing CC center, centrosome, centriole. Cytoplasm, cytoskeleton, microtubule CC organizing center, centrosome {ECO:0000269|PubMed:27224062}. Cytoplasm, CC cytoskeleton, cilium basal body {ECO:0000269|PubMed:27224062}. Cell CC junction. Note=Located at the distal ends of both centrioles and CC colocalizes to centrosomes throughout the cell cycle. CC -!- SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=4; CC Name=1; Synonyms=a; CC IsoId=Q86SQ7-1; Sequence=Displayed; CC Name=2; Synonyms=e; CC IsoId=Q86SQ7-2; Sequence=VSP_016951, VSP_016952; CC Name=3; CC IsoId=Q86SQ7-3; Sequence=VSP_016950, VSP_016953; CC Name=4; Synonyms=b; CC IsoId=Q86SQ7-4; Sequence=VSP_016949; CC -!- TISSUE SPECIFICITY: Expressed in thymus, prostate, testis, ovary, small CC intestine, colon, mucosa, colon and renal cancer tumors. CC {ECO:0000269|PubMed:9610721}. CC -!- DISEASE: Senior-Loken syndrome 7 (SLSN7) [MIM:613615]: A renal-retinal CC disorder characterized by progressive wasting of the filtering unit of CC the kidney (nephronophthisis), with or without medullary cystic renal CC disease, and progressive eye disease. Typically this disorder becomes CC apparent during the first year of life. {ECO:0000269|PubMed:20835237}. CC Note=The disease is caused by variants affecting the gene represented CC in this entry. CC -!- DISEASE: Bardet-Biedl syndrome 16 (BBS16) [MIM:615993]: A syndrome CC characterized by usually severe pigmentary retinopathy, early-onset CC obesity, polydactyly, hypogenitalism, renal malformation and CC intellectual disability. Secondary features include diabetes mellitus, CC hypertension and congenital heart disease. Bardet-Biedl syndrome CC inheritance is autosomal recessive, but three mutated alleles (two at CC one locus, and a third at a second locus) may be required for clinical CC manifestation of some forms of the disease. CC {ECO:0000269|PubMed:20835237, ECO:0000269|PubMed:22626039}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AF250731; AAO27830.1; -; mRNA. DR EMBL; BC032454; AAH32454.1; -; mRNA. DR EMBL; BC045832; AAH45832.1; -; mRNA. DR EMBL; AF161348; AAF28908.1; -; mRNA. DR EMBL; AF039690; AAC18039.1; -; mRNA. DR CCDS; CCDS31075.1; -. [Q86SQ7-1] DR RefSeq; NP_006633.1; NM_006642.3. [Q86SQ7-1] DR RefSeq; XP_005273080.1; XM_005273023.4. DR AlphaFoldDB; Q86SQ7; -. DR SMR; Q86SQ7; -. DR BioGRID; 116020; 27. DR IntAct; Q86SQ7; 46. DR MINT; Q86SQ7; -. DR STRING; 9606.ENSP00000355499; -. DR iPTMnet; Q86SQ7; -. DR PhosphoSitePlus; Q86SQ7; -. DR BioMuta; SDCCAG8; -. DR DMDM; 74713839; -. DR EPD; Q86SQ7; -. DR jPOST; Q86SQ7; -. DR MassIVE; Q86SQ7; -. DR MaxQB; Q86SQ7; -. DR PaxDb; 9606-ENSP00000355499; -. DR PeptideAtlas; Q86SQ7; -. DR ProteomicsDB; 69616; -. [Q86SQ7-1] DR ProteomicsDB; 69617; -. [Q86SQ7-2] DR ProteomicsDB; 69618; -. [Q86SQ7-3] DR ProteomicsDB; 69619; -. [Q86SQ7-4] DR Pumba; Q86SQ7; -. DR Antibodypedia; 34709; 267 antibodies from 33 providers. DR DNASU; 10806; -. DR Ensembl; ENST00000366541.8; ENSP00000355499.3; ENSG00000054282.16. [Q86SQ7-1] DR Ensembl; ENST00000622598.3; ENSP00000483550.1; ENSG00000276111.3. [Q86SQ7-1] DR GeneID; 10806; -. DR KEGG; hsa:10806; -. DR MANE-Select; ENST00000366541.8; ENSP00000355499.3; NM_006642.5; NP_006633.1. DR UCSC; uc001hzw.4; human. [Q86SQ7-1] DR AGR; HGNC:10671; -. DR DisGeNET; 10806; -. DR GeneCards; SDCCAG8; -. DR GeneReviews; SDCCAG8; -. DR HGNC; HGNC:10671; SDCCAG8. DR HPA; ENSG00000054282; Low tissue specificity. DR MalaCards; SDCCAG8; -. DR MIM; 613524; gene. DR MIM; 613615; phenotype. DR MIM; 615993; phenotype. DR neXtProt; NX_Q86SQ7; -. DR OpenTargets; ENSG00000054282; -. DR Orphanet; 110; Bardet-Biedl syndrome. DR Orphanet; 3156; Senior-Loken syndrome. DR PharmGKB; PA35601; -. DR VEuPathDB; HostDB:ENSG00000054282; -. DR eggNOG; ENOG502R5XE; Eukaryota. DR GeneTree; ENSGT00730000111198; -. DR InParanoid; Q86SQ7; -. DR OMA; SQEKMYT; -. DR OrthoDB; 2916241at2759; -. DR PhylomeDB; Q86SQ7; -. DR TreeFam; TF325472; -. DR PathwayCommons; Q86SQ7; -. DR Reactome; R-HSA-2565942; Regulation of PLK1 Activity at G2/M Transition. DR Reactome; R-HSA-380259; Loss of Nlp from mitotic centrosomes. DR Reactome; R-HSA-380270; Recruitment of mitotic centrosome proteins and complexes. DR Reactome; R-HSA-380284; Loss of proteins required for interphase microtubule organization from the centrosome. DR Reactome; R-HSA-380320; Recruitment of NuMA to mitotic centrosomes. DR Reactome; R-HSA-5620912; Anchoring of the basal body to the plasma membrane. DR Reactome; R-HSA-8854518; AURKA Activation by TPX2. DR SignaLink; Q86SQ7; -. DR BioGRID-ORCS; 10806; 12 hits in 1162 CRISPR screens. DR ChiTaRS; SDCCAG8; human. DR GeneWiki; SDCCAG8; -. DR GenomeRNAi; 10806; -. DR Pharos; Q86SQ7; Tbio. DR PRO; PR:Q86SQ7; -. DR Proteomes; UP000005640; Chromosome 1. DR RNAct; Q86SQ7; Protein. DR Bgee; ENSG00000054282; Expressed in corpus callosum and 102 other cell types or tissues. DR ExpressionAtlas; Q86SQ7; baseline and differential. DR GO; GO:0005911; C:cell-cell junction; IDA:UniProtKB. DR GO; GO:0034451; C:centriolar satellite; IEA:Ensembl. DR GO; GO:0005814; C:centriole; IDA:UniProtKB. DR GO; GO:0005813; C:centrosome; IDA:HPA. DR GO; GO:0036064; C:ciliary basal body; IEA:Ensembl. DR GO; GO:0005829; C:cytosol; TAS:Reactome. DR GO; GO:0097733; C:photoreceptor cell cilium; IEA:Ensembl. DR GO; GO:0030030; P:cell projection organization; IEA:UniProtKB-KW. DR GO; GO:0007098; P:centrosome cycle; IEA:InterPro. DR GO; GO:0030010; P:establishment of cell polarity; ISS:UniProtKB. DR GO; GO:0031023; P:microtubule organizing center organization; IBA:GO_Central. DR GO; GO:0001764; P:neuron migration; IBA:GO_Central. DR GO; GO:1902017; P:regulation of cilium assembly; IMP:UniProtKB. DR GO; GO:0035148; P:tube formation; ISS:UniProtKB. DR InterPro; IPR031887; SDCCAG8. DR PANTHER; PTHR34343; SEROLOGICALLY DEFINED COLON CANCER ANTIGEN 8; 1. DR PANTHER; PTHR34343:SF1; SEROLOGICALLY DEFINED COLON CANCER ANTIGEN 8; 1. DR Pfam; PF15964; CCCAP; 1. DR Genevisible; Q86SQ7; HS. PE 1: Evidence at protein level; KW Alternative splicing; Bardet-Biedl syndrome; Cell junction; KW Cell projection; Ciliopathy; Cilium biogenesis/degradation; Coiled coil; KW Cytoplasm; Cytoskeleton; Leber congenital amaurosis; Nephronophthisis; KW Obesity; Phosphoprotein; Reference proteome; Senior-Loken syndrome. FT CHAIN 1..713 FT /note="Serologically defined colon cancer antigen 8" FT /id="PRO_0000076310" FT REGION 84..103 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 194..215 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 216..713 FT /note="Sufficient for homodimerization" FT /evidence="ECO:0000250" FT REGION 533..713 FT /note="Mediates interaction with OFD1" FT /evidence="ECO:0000269|PubMed:20835237" FT COILED 129..175 FT /evidence="ECO:0000255" FT COILED 223..273 FT /evidence="ECO:0000255" FT COILED 348..707 FT /evidence="ECO:0000255" FT MOD_RES 4 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:23186163" FT MOD_RES 28 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:23186163" FT VAR_SEQ 183..226 FT /note="Missing (in isoform 4)" FT /evidence="ECO:0000303|PubMed:12559564" FT /id="VSP_016949" FT VAR_SEQ 221..225 FT /note="EQLEL -> LLDAS (in isoform 3)" FT /evidence="ECO:0000303|PubMed:9610721" FT /id="VSP_016950" FT VAR_SEQ 357..360 FT /note="ALIQ -> HPSQ (in isoform 2)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_016951" FT VAR_SEQ 361..713 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_016952" FT VAR_SEQ 538..616 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000303|PubMed:9610721" FT /id="VSP_016953" FT VARIANT 378 FT /note="E -> D (in dbSNP:rs2275155)" FT /id="VAR_051333" SQ SEQUENCE 713 AA; 82682 MW; 04D5304DC3E17640 CRC64; MAKSPENSTL EEILGQYQRS LREHASRSIH QLTCALKEGD VTIGEDAPNL SFSTSVGNED ARTAWPELQQ SHAVNQLKDL LRQQADKESE VSPSRRRKMS PLRSLEHEET NMPTMHDLVH TINDQSQYIH HLEAEVKFCK EELSGMKNKI QVVVLENEGL QQQLKSQRQE ETLREQTLLD ASGNMHNSWI TTGEDSGVGE TSKRPFSHDN ADFGKAASAG EQLELEKLKL TYEEKCEIEE SQLKFLRNDL AEYQRTCEDL KEQLKHKEFL LAANTCNRVG GLCLKCAQHE AVLSQTHTNV HMQTIERLVK ERDDLMSALV SVRSSLADTQ QREASAYEQV KQVLQISEEA NFEKTKALIQ CDQLRKELER QAERLEKELA SQQEKRAIEK DMMKKEITKE REYMGSKMLI LSQNIAQLEA QVEKVTKEKI SAINQLEEIQ SQLASREMDV TKVCGEMRYQ LNKTNMEKDE AEKEHREFRA KTNRDLEIKD QEIEKLRIEL DESKQHLEQE QQKAALAREE CLRLTELLGE SEHQLHLTRQ EKDSIQQSFS KEAKAQALQA QQREQELTQK IQQMEAQHDK TENEQYLLLT SQNTFLTKLK EECCTLAKKL EQISQKTRSE IAQLSQEKRY TYDKLGKLQR RNEELEEQCV QHGRVHETMK QRLRQLDKHS QATAQQLVQL LSKQNQLLLE RQSLSEEVDR LRTQLPSMPQ SDC //