SDCG8_HUMAN
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 03-AUG-2022, entry version 155.
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. [Q86SQ7-2]
DR AlphaFoldDB; Q86SQ7; -.
DR SMR; Q86SQ7; -.
DR BioGRID; 116020; 27.
DR IntAct; Q86SQ7; 45.
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; Q86SQ7; -.
DR PeptideAtlas; Q86SQ7; -.
DR PRIDE; Q86SQ7; -.
DR ProteomicsDB; 69616; -. [Q86SQ7-1]
DR ProteomicsDB; 69617; -. [Q86SQ7-2]
DR ProteomicsDB; 69618; -. [Q86SQ7-3]
DR ProteomicsDB; 69619; -. [Q86SQ7-4]
DR Antibodypedia; 34709; 244 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 CTD; 10806; -.
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; 654910at2759; -.
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; 10 hits in 1082 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 101 other tissues.
DR ExpressionAtlas; Q86SQ7; baseline and differential.
DR Genevisible; Q86SQ7; HS.
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:UniProtKB.
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; PTHR34343; 1.
DR Pfam; PF15964; CCCAP; 1.
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
