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Serologically defined colon cancer antigen 8 (Antigen NY-CO-8) (Centrosomal colon cancer autoantigen protein) (hCCCAP)

 SDCG8_HUMAN             Reviewed;         713 AA.
Q86SQ7; O60527; Q3ZCR6; Q8N5F2; Q9P0F1;
10-JAN-2006, integrated into UniProtKB/Swiss-Prot.
01-JUN-2003, sequence version 1.
30-AUG-2017, entry version 124.
RecName: Full=Serologically defined colon cancer antigen 8;
AltName: Full=Antigen NY-CO-8;
AltName: Full=Centrosomal colon cancer autoantigen protein;
Short=hCCCAP;
Name=SDCCAG8; Synonyms=CCCAP, NPHP10; ORFNames=HSPC085;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 4), ALTERNATIVE SPLICING,
AND SUBCELLULAR LOCATION.
TISSUE=Placenta;
PubMed=12559564; DOI=10.1016/S0378-1119(02)01141-1;
Kenedy A.A., Cohen K.J., Loveys D.A., Kato G.J., Dang C.V.;
"Identification and characterization of the novel centrosome-
associated protein CCCAP.";
Gene 303:35-46(2003).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE
SEQUENCE [LARGE SCALE MRNA] OF 465-713 (ISOFORM 1).
TISSUE=Brain, Hippocampus, Lung, and Testis;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-393 (ISOFORM 1).
TISSUE=Umbilical cord blood;
PubMed=11042152; DOI=10.1101/gr.140200;
Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G.,
Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W.,
Tao J., Huang Q.-H., Zhou J., Hu G.-X., Gu J., Chen S.-J., Chen Z.;
"Cloning and functional analysis of cDNAs with open reading frames for
300 previously undefined genes expressed in CD34+ hematopoietic
stem/progenitor cells.";
Genome Res. 10:1546-1560(2000).
[4]
NUCLEOTIDE SEQUENCE [MRNA] OF 221-713 (ISOFORM 3), AND TISSUE
SPECIFICITY.
TISSUE=Colon carcinoma;
PubMed=9610721;
DOI=10.1002/(SICI)1097-0215(19980529)76:5<652::AID-IJC7>3.0.CO;2-P;
Scanlan M.J., Chen Y.-T., Williamson B., Gure A.O., Stockert E.,
Gordan J.D., Tuereci O., Sahin U., Pfreundschuh M., Old L.J.;
"Characterization of human colon cancer antigens recognized by
autologous antibodies.";
Int. J. Cancer 76:652-658(1998).
[5]
SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
TISSUE=Lymphoblast;
PubMed=14654843; DOI=10.1038/nature02166;
Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A.,
Mann M.;
"Proteomic characterization of the human centrosome by protein
correlation profiling.";
Nature 426:570-574(2003).
[6]
SUBCELLULAR LOCATION, INTERACTION WITH OFD1, INVOLVEMENT IN SLSN7,
INVOLVEMENT IN BBS16, AND ALTERNATIVE SPLICING.
PubMed=20835237; DOI=10.1038/ng.662;
Otto E.A., Hurd T.W., Airik R., Chaki M., Zhou W., Stoetzel C.,
Patil S.B., Levy S., Ghosh A.K., Murga-Zamalloa C.A., van Reeuwijk J.,
Letteboer S.J., Sang L., Giles R.H., Liu Q., Coene K.L.,
Estrada-Cuzcano A., Collin R.W., McLaughlin H.M., Held S.,
Kasanuki J.M., Ramaswami G., Conte J., Lopez I., Washburn J.,
Macdonald J., Hu J., Yamashita Y., Maher E.R., Guay-Woodford L.M.,
Neumann H.P., Obermuller N., Koenekoop R.K., Bergmann C., Bei X.,
Lewis R.A., Katsanis N., Lopes V., Williams D.S., Lyons R.H.,
Dang C.V., Brito D.A., Dias M.B., Zhang X., Cavalcoli J.D.,
Nurnberg G., Nurnberg P., Pierce E.A., Jackson P.K., Antignac C.,
Saunier S., Roepman R., Dollfus H., Khanna H., Hildebrandt F.;
"Candidate exome capture identifies mutation of SDCCAG8 as the cause
of a retinal-renal ciliopathy.";
Nat. Genet. 42:840-850(2010).
[7]
INTERACTION WITH FAM161A.
PubMed=22940612; DOI=10.1093/hmg/dds368;
Di Gioia S.A., Letteboer S.J., Kostic C., Bandah-Rozenfeld D.,
Hetterschijt L., Sharon D., Arsenijevic Y., Roepman R., Rivolta C.;
"FAM161A, associated with retinitis pigmentosa, is a component of the
cilia-basal body complex and interacts with proteins involved in
ciliopathies.";
Hum. Mol. Genet. 21:5174-5184(2012).
[8]
INVOLVEMENT IN BBS16.
PubMed=22626039; DOI=10.3109/13816810.2012.689411;
Billingsley G., Vincent A., Deveault C., Heon E.;
"Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with
renal involvement and absent polydactyly.";
Ophthalmic Genet. 33:150-154(2012).
[9]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-4 AND SER-28, AND
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma, and Erythroleukemia;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
-!- FUNCTION: Plays a role in the establishment of cell polarity and
epithelial lumen formation (By similarity). May play a role in
ciliogenesis. {ECO:0000250|UniProtKB:Q80UF4}.
-!- SUBUNIT: Homodimer (By similarity). Interacts with OFD1; the
interaction is direct. Interacts with FAM161A. {ECO:0000250,
ECO:0000269|PubMed:20835237, ECO:0000269|PubMed:22940612}.
-!- INTERACTION:
P04591:gag (xeno); NbExp=2; IntAct=EBI-1047850, EBI-6179719;
-!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule
organizing center, centrosome, centriole. Cell junction.
Note=Located at the distal ends of both centrioles and colocalizes
to centrosomes throughout the cell cycle.
-!- SUBCELLULAR LOCATION: Isoform 2: Cytoplasm.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Name=1; Synonyms=a;
IsoId=Q86SQ7-1; Sequence=Displayed;
Name=2; Synonyms=e;
IsoId=Q86SQ7-2; Sequence=VSP_016951, VSP_016952;
Name=3;
IsoId=Q86SQ7-3; Sequence=VSP_016950, VSP_016953;
Name=4; Synonyms=b;
IsoId=Q86SQ7-4; Sequence=VSP_016949;
-!- TISSUE SPECIFICITY: Expressed in thymus, prostate, testis, ovary,
small intestine, colon, mucosa, colon and renal cancer tumors.
{ECO:0000269|PubMed:9610721}.
-!- DISEASE: Senior-Loken syndrome 7 (SLSN7) [MIM:613615]: A renal-
retinal disorder characterized by progressive wasting of the
filtering unit of the kidney (nephronophthisis), with or without
medullary cystic renal disease, and progressive eye disease.
Typically this disorder becomes apparent during the first year of
life. {ECO:0000269|PubMed:20835237}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Bardet-Biedl syndrome 16 (BBS16) [MIM:615993]: A syndrome
characterized by usually severe pigmentary retinopathy, early-
onset obesity, polydactyly, hypogenitalism, renal malformation and
mental retardation. Secondary features include diabetes mellitus,
hypertension and congenital heart disease. Bardet-Biedl syndrome
inheritance is autosomal recessive, but three mutated alleles (two
at one locus, and a third at a second locus) may be required for
clinical manifestation of some forms of the disease.
{ECO:0000269|PubMed:20835237, ECO:0000269|PubMed:22626039}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
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EMBL; AF250731; AAO27830.1; -; mRNA.
EMBL; BC032454; AAH32454.1; -; mRNA.
EMBL; BC045832; AAH45832.1; -; mRNA.
EMBL; AF161348; AAF28908.1; -; mRNA.
EMBL; AF039690; AAC18039.1; -; mRNA.
CCDS; CCDS31075.1; -. [Q86SQ7-1]
RefSeq; NP_006633.1; NM_006642.3. [Q86SQ7-1]
RefSeq; XP_005273080.1; XM_005273023.4. [Q86SQ7-2]
UniGene; Hs.591530; -.
ProteinModelPortal; Q86SQ7; -.
SMR; Q86SQ7; -.
BioGrid; 116020; 13.
IntAct; Q86SQ7; 15.
MINT; MINT-6777914; -.
STRING; 9606.ENSP00000355499; -.
iPTMnet; Q86SQ7; -.
PhosphoSitePlus; Q86SQ7; -.
BioMuta; SDCCAG8; -.
DMDM; 74713839; -.
EPD; Q86SQ7; -.
MaxQB; Q86SQ7; -.
PaxDb; Q86SQ7; -.
PeptideAtlas; Q86SQ7; -.
PRIDE; Q86SQ7; -.
Ensembl; ENST00000366541; ENSP00000355499; ENSG00000054282. [Q86SQ7-1]
Ensembl; ENST00000622598; ENSP00000483550; ENSG00000276111. [Q86SQ7-1]
GeneID; 10806; -.
KEGG; hsa:10806; -.
UCSC; uc001hzw.4; human. [Q86SQ7-1]
CTD; 10806; -.
DisGeNET; 10806; -.
GeneCards; SDCCAG8; -.
GeneReviews; SDCCAG8; -.
HGNC; HGNC:10671; SDCCAG8.
HPA; HPA025737; -.
HPA; HPA044477; -.
HPA; HPA072495; -.
MalaCards; SDCCAG8; -.
MIM; 613524; gene.
MIM; 613615; phenotype.
MIM; 615993; phenotype.
neXtProt; NX_Q86SQ7; -.
OpenTargets; ENSG00000054282; -.
Orphanet; 110; Bardet-Biedl syndrome.
Orphanet; 3156; Senior-Loken syndrome.
PharmGKB; PA35601; -.
eggNOG; ENOG410IGC5; Eukaryota.
eggNOG; ENOG410XQMR; LUCA.
GeneTree; ENSGT00730000111198; -.
HOGENOM; HOG000133059; -.
HOVERGEN; HBG056806; -.
InParanoid; Q86SQ7; -.
KO; K16488; -.
OMA; QQMEAQH; -.
OrthoDB; EOG091G069J; -.
PhylomeDB; Q86SQ7; -.
TreeFam; TF325472; -.
Reactome; R-HSA-2565942; Regulation of PLK1 Activity at G2/M Transition.
Reactome; R-HSA-380259; Loss of Nlp from mitotic centrosomes.
Reactome; R-HSA-380270; Recruitment of mitotic centrosome proteins and complexes.
Reactome; R-HSA-380284; Loss of proteins required for interphase microtubule organization from the centrosome.
Reactome; R-HSA-5620912; Anchoring of the basal body to the plasma membrane.
Reactome; R-HSA-8854518; AURKA Activation by TPX2.
ChiTaRS; SDCCAG8; human.
GeneWiki; SDCCAG8; -.
GenomeRNAi; 10806; -.
PRO; PR:Q86SQ7; -.
Proteomes; UP000005640; Chromosome 1.
Bgee; ENSG00000054282; -.
CleanEx; HS_SDCCAG8; -.
ExpressionAtlas; Q86SQ7; baseline and differential.
Genevisible; Q86SQ7; HS.
GO; GO:0005911; C:cell-cell junction; IDA:UniProtKB.
GO; GO:0034451; C:centriolar satellite; IEA:Ensembl.
GO; GO:0005814; C:centriole; IDA:UniProtKB.
GO; GO:0005813; C:centrosome; IDA:UniProtKB.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0007098; P:centrosome cycle; IEA:InterPro.
GO; GO:0097711; P:ciliary basal body docking; TAS:Reactome.
GO; GO:0030010; P:establishment of cell polarity; ISS:UniProtKB.
GO; GO:0000086; P:G2/M transition of mitotic cell cycle; TAS:Reactome.
GO; GO:0001764; P:neuron migration; IEA:Ensembl.
GO; GO:0035148; P:tube formation; ISS:UniProtKB.
InterPro; IPR031887; SDCCAG8.
PANTHER; PTHR34343; PTHR34343; 1.
Pfam; PF15964; CCCAP; 1.
1: Evidence at protein level;
Alternative splicing; Bardet-Biedl syndrome; Cell junction;
Ciliopathy; Coiled coil; Complete proteome; Cytoplasm; Cytoskeleton;
Leber congenital amaurosis; Nephronophthisis; Obesity; Phosphoprotein;
Polymorphism; Reference proteome; Senior-Loken syndrome.
CHAIN 1 713 Serologically defined colon cancer
antigen 8.
/FTId=PRO_0000076310.
REGION 216 713 Sufficient for homodimerization.
{ECO:0000250}.
REGION 533 713 Mediates interaction with OFD1.
{ECO:0000269|PubMed:20835237}.
COILED 129 175 {ECO:0000255}.
COILED 223 273 {ECO:0000255}.
COILED 348 707 {ECO:0000255}.
COMPBIAS 534 692 Gln-rich.
MOD_RES 4 4 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
MOD_RES 28 28 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
VAR_SEQ 183 226 Missing (in isoform 4).
{ECO:0000303|PubMed:12559564}.
/FTId=VSP_016949.
VAR_SEQ 221 225 EQLEL -> LLDAS (in isoform 3).
{ECO:0000303|PubMed:9610721}.
/FTId=VSP_016950.
VAR_SEQ 357 360 ALIQ -> HPSQ (in isoform 2).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_016951.
VAR_SEQ 361 713 Missing (in isoform 2).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_016952.
VAR_SEQ 538 616 Missing (in isoform 3).
{ECO:0000303|PubMed:9610721}.
/FTId=VSP_016953.
VARIANT 378 378 E -> D (in dbSNP:rs2275155).
/FTId=VAR_051333.
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


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