Q86SQ7 (SDCG8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Serologically defined colon cancer antigen 8

Alternative name(s):
Antigen NY-CO-8
Centrosomal colon cancer autoantigen protein
Short name=hCCCAP

Gene names

Name:	SDCCAG8
Synonyms:	CCCAP, NPHP10
ORF Names:	HSPC085

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	713 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Plays a role in the establishment of cell polarity and epithelial lumen formation By similarity. May play a role in ciliogenesis.
Subunit structure	Homodimer By similarity. Interacts with OFD1; the interaction is direct. Interacts with FAM161A. Ref.6 Ref.7
Subcellular location	Cytoplasm › cytoskeleton › centrosome › centriole. Cell junction. Note: Located at the distal ends of both centrioles and colocalizes to centrosomes throughout the cell cycle. Ref.1 Ref.5 Ref.6 Isoform 2: Cytoplasm Ref.1 Ref.5 Ref.6.
Tissue specificity	Expressed in thymus, prostate, testis, ovary, small intestine, colon, mucosa, colon and renal cancer tumors. Ref.4
Involvement in 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Ontologies

Keywords
Cellular component	Cell junction Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Ciliopathy Leber congenital amaurosis Nephronophthisis Senior-Loken syndrome
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	G2/M transition of mitotic cell cycle Traceable author statement. Source: Reactome establishment of cell polarity Inferred from sequence or structural similarity. Source: UniProtKB tube formation Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	cell-cell junction Inferred from direct assay Ref.6. Source: UniProtKB centriole Inferred from direct assay Ref.6. Source: UniProtKB cytosol Traceable author statement. Source: Reactome
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
gag	P04591	2	EBI-1047850,EBI-6179719	From a different organism.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q86SQ7-1)

Also known as: a;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q86SQ7-2)

Also known as: e;

The sequence of this isoform differs from the canonical sequence as follows:
     357-360: ALIQ → HPSQ
     361-713: Missing.

Isoform 3 (identifier: Q86SQ7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     221-225: EQLEL → LLDAS
     538-616: Missing.

Isoform 4 (identifier: Q86SQ7-4)

Also known as: b;

The sequence of this isoform differs from the canonical sequence as follows:
     183-226: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 713	713	Serologically defined colon cancer antigen 8		PRO_0000076310
Regions
	Region	216 – 713	498	Sufficient for homodimerization By similarity
	Region	533 – 713	181	Mediates interaction with OFD1
	Coiled coil	129 – 175	47	Potential
	Coiled coil	223 – 273	51	Potential
	Coiled coil	348 – 707	360	Potential
	Compositional bias	534 – 692	159	Gln-rich
Natural variations
	Alternative sequence	183 – 226	44	Missing in isoform 4.		VSP_016949
	Alternative sequence	221 – 225	5	EQLEL → LLDAS in isoform 3.		VSP_016950
	Alternative sequence	357 – 360	4	ALIQ → HPSQ in isoform 2.		VSP_016951
	Alternative sequence	361 – 713	353	Missing in isoform 2.		VSP_016952
	Alternative sequence	538 – 616	79	Missing in isoform 3.		VSP_016953
	Natural variant	378	1	E → D. Corresponds to variant rs2275155 [ dbSNP | Ensembl ].		VAR_051333

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (a) [UniParc]. Last modified June 1, 2003. Version 1. Checksum: 04D5304DC3E17640	FASTA	713	82,682
	10 20 30 40 50 60 MAKSPENSTL EEILGQYQRS LREHASRSIH QLTCALKEGD VTIGEDAPNL SFSTSVGNED 70 80 90 100 110 120 ARTAWPELQQ SHAVNQLKDL LRQQADKESE VSPSRRRKMS PLRSLEHEET NMPTMHDLVH 130 140 150 160 170 180 TINDQSQYIH HLEAEVKFCK EELSGMKNKI QVVVLENEGL QQQLKSQRQE ETLREQTLLD 190 200 210 220 230 240 ASGNMHNSWI TTGEDSGVGE TSKRPFSHDN ADFGKAASAG EQLELEKLKL TYEEKCEIEE 250 260 270 280 290 300 SQLKFLRNDL AEYQRTCEDL KEQLKHKEFL LAANTCNRVG GLCLKCAQHE AVLSQTHTNV 310 320 330 340 350 360 HMQTIERLVK ERDDLMSALV SVRSSLADTQ QREASAYEQV KQVLQISEEA NFEKTKALIQ 370 380 390 400 410 420 CDQLRKELER QAERLEKELA SQQEKRAIEK DMMKKEITKE REYMGSKMLI LSQNIAQLEA 430 440 450 460 470 480 QVEKVTKEKI SAINQLEEIQ SQLASREMDV TKVCGEMRYQ LNKTNMEKDE AEKEHREFRA 490 500 510 520 530 540 KTNRDLEIKD QEIEKLRIEL DESKQHLEQE QQKAALAREE CLRLTELLGE SEHQLHLTRQ 550 560 570 580 590 600 EKDSIQQSFS KEAKAQALQA QQREQELTQK IQQMEAQHDK TENEQYLLLT SQNTFLTKLK 610 620 630 640 650 660 EECCTLAKKL EQISQKTRSE IAQLSQEKRY TYDKLGKLQR RNEELEEQCV QHGRVHETMK 670 680 690 700 710 QRLRQLDKHS QATAQQLVQL LSKQNQLLLE RQSLSEEVDR LRTQLPSMPQ SDC
	Isoform 2 (e) [UniParc]. Checksum: 0CF81B6E49398804	FASTA	360	40,935
	10 20 30 40 50 60 MAKSPENSTL EEILGQYQRS LREHASRSIH QLTCALKEGD VTIGEDAPNL SFSTSVGNED 70 80 90 100 110 120 ARTAWPELQQ SHAVNQLKDL LRQQADKESE VSPSRRRKMS PLRSLEHEET NMPTMHDLVH 130 140 150 160 170 180 TINDQSQYIH HLEAEVKFCK EELSGMKNKI QVVVLENEGL QQQLKSQRQE ETLREQTLLD 190 200 210 220 230 240 ASGNMHNSWI TTGEDSGVGE TSKRPFSHDN ADFGKAASAG EQLELEKLKL TYEEKCEIEE 250 260 270 280 290 300 SQLKFLRNDL AEYQRTCEDL KEQLKHKEFL LAANTCNRVG GLCLKCAQHE AVLSQTHTNV 310 320 330 340 350 360 HMQTIERLVK ERDDLMSALV SVRSSLADTQ QREASAYEQV KQVLQISEEA NFEKTKHPSQ
	Isoform 3 [UniParc]. Checksum: 81926C3C0F50A8A4	FASTA	634	73,315
	10 20 30 40 50 60 MAKSPENSTL EEILGQYQRS LREHASRSIH QLTCALKEGD VTIGEDAPNL SFSTSVGNED 70 80 90 100 110 120 ARTAWPELQQ SHAVNQLKDL LRQQADKESE VSPSRRRKMS PLRSLEHEET NMPTMHDLVH 130 140 150 160 170 180 TINDQSQYIH HLEAEVKFCK EELSGMKNKI QVVVLENEGL QQQLKSQRQE ETLREQTLLD 190 200 210 220 230 240 ASGNMHNSWI TTGEDSGVGE TSKRPFSHDN ADFGKAASAG LLDASEKLKL TYEEKCEIEE 250 260 270 280 290 300 SQLKFLRNDL AEYQRTCEDL KEQLKHKEFL LAANTCNRVG GLCLKCAQHE AVLSQTHTNV 310 320 330 340 350 360 HMQTIERLVK ERDDLMSALV SVRSSLADTQ QREASAYEQV KQVLQISEEA NFEKTKALIQ 370 380 390 400 410 420 CDQLRKELER QAERLEKELA SQQEKRAIEK DMMKKEITKE REYMGSKMLI LSQNIAQLEA 430 440 450 460 470 480 QVEKVTKEKI SAINQLEEIQ SQLASREMDV TKVCGEMRYQ LNKTNMEKDE AEKEHREFRA 490 500 510 520 530 540 KTNRDLEIKD QEIEKLRIEL DESKQHLEQE QQKAALAREE CLRLTELLGE SEHQLHLTRS 550 560 570 580 590 600 EIAQLSQEKR YTYDKLGKLQ RRNEELEEQC VQHGRVHETM KQRLRQLDKH SQATAQQLVQ 610 620 630 LLSKQNQLLL ERQSLSEEVD RLRTQLPSMP QSDC
	Isoform 4 (b) [UniParc]. Checksum: 2F1594640F02F7BB	FASTA	669	78,021
	10 20 30 40 50 60 MAKSPENSTL EEILGQYQRS LREHASRSIH QLTCALKEGD VTIGEDAPNL SFSTSVGNED 70 80 90 100 110 120 ARTAWPELQQ SHAVNQLKDL LRQQADKESE VSPSRRRKMS PLRSLEHEET NMPTMHDLVH 130 140 150 160 170 180 TINDQSQYIH HLEAEVKFCK EELSGMKNKI QVVVLENEGL QQQLKSQRQE ETLREQTLLD 190 200 210 220 230 240 ASKLKLTYEE KCEIEESQLK FLRNDLAEYQ RTCEDLKEQL KHKEFLLAAN TCNRVGGLCL 250 260 270 280 290 300 KCAQHEAVLS QTHTNVHMQT IERLVKERDD LMSALVSVRS SLADTQQREA SAYEQVKQVL 310 320 330 340 350 360 QISEEANFEK TKALIQCDQL RKELERQAER LEKELASQQE KRAIEKDMMK KEITKEREYM 370 380 390 400 410 420 GSKMLILSQN IAQLEAQVEK VTKEKISAIN QLEEIQSQLA SREMDVTKVC GEMRYQLNKT 430 440 450 460 470 480 NMEKDEAEKE HREFRAKTNR DLEIKDQEIE KLRIELDESK QHLEQEQQKA ALAREECLRL 490 500 510 520 530 540 TELLGESEHQ LHLTRQEKDS IQQSFSKEAK AQALQAQQRE QELTQKIQQM EAQHDKTENE 550 560 570 580 590 600 QYLLLTSQNT FLTKLKEECC TLAKKLEQIS QKTRSEIAQL SQEKRYTYDK LGKLQRRNEE 610 620 630 640 650 660 LEEQCVQHGR VHETMKQRLR QLDKHSQATA QQLVQLLSKQ NQLLLERQSL SEEVDRLRTQ LPSMPQSDC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification and characterization of the novel centrosome-associated protein CCCAP." Kenedy A.A., Cohen K.J., Loveys D.A., Kato G.J., Dang C.V. Gene 303:35-46(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 4), ALTERNATIVE SPLICING, SUBCELLULAR LOCATION. Tissue: Placenta.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 465-713 (ISOFORM 1). Tissue: Brain, Hippocampus, Lung and Testis.
[3]	"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells." 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. Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-393 (ISOFORM 1). Tissue: Umbilical cord blood.
[4]	"Characterization of human colon cancer antigens recognized by autologous antibodies." 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. Int. J. Cancer 76:652-658(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 221-713 (ISOFORM 3), TISSUE SPECIFICITY. Tissue: Colon carcinoma.
[5]	"Proteomic characterization of the human centrosome by protein correlation profiling." Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M. Nature 426:570-574(2003) [PubMed] [Europe PMC] [Abstract] Cited for: MASS SPECTROMETRY, SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]. Tissue: Lymphoblast.
[6]	"Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy." 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. Nat. Genet. 42:840-850(2010) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, INTERACTION WITH OFD1, INVOLVEMENT IN SLSN7, ALTERNATIVE SPLICING.
[7]	"FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies." Di Gioia S.A., Letteboer S.J., Kostic C., Bandah-Rozenfeld D., Hetterschijt L., Sharon D., Arsenijevic Y., Roepman R., Rivolta C. Hum. Mol. Genet. 21:5174-5184(2012) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH FAM161A.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF250731 mRNA. Translation: AAO27830.1. BC032454 mRNA. Translation: AAH32454.1. BC045832 mRNA. Translation: AAH45832.1. AF161348 mRNA. Translation: AAF28908.1. AF039690 mRNA. Translation: AAC18039.1.
IPI	IPI00186006. IPI00657884. IPI00854656. IPI00873338.
RefSeq	NP_006633.1. NM_006642.3.
UniGene	Hs.591530.
3D structure databases
ProteinModelPortal	Q86SQ7.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q86SQ7. 6 interactions.
MINT	MINT-6777914.
STRING	9606.ENSP00000355499.
PTM databases
PhosphoSite	Q86SQ7.
Polymorphism databases
DMDM	74713839.
Proteomic databases
PaxDb	Q86SQ7.
PRIDE	Q86SQ7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000366541; ENSP00000355499; ENSG00000054282. ENST00000391846; ENSP00000375721; ENSG00000054282. ENST00000435549; ENSP00000410200; ENSG00000054282.
GeneID	10806.
KEGG	hsa:10806.
UCSC	uc001hzw.3. human. uc001hzx.3. human.
Organism-specific databases
CTD	10806.
GeneCards	GC01P243419.
HGNC	HGNC:10671. SDCCAG8.
HPA	HPA044477.
MIM	613524. gene. 613615. phenotype.
neXtProt	NX_Q86SQ7.
Orphanet	110. Bardet-Biedl syndrome. 3156. Senior-Loken syndrome.
PharmGKB	PA35601.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG69678.
HOGENOM	HOG000133059.
HOVERGEN	HBG056806.
InParanoid	Q86SQ7.
KO	K16488.
OMA	SQRQEET.
Enzyme and pathway databases
Reactome	REACT_115566. Cell Cycle.
Gene expression databases
ArrayExpress	Q86SQ7.
Bgee	Q86SQ7.
CleanEx	HS_SDCCAG8.
Genevestigator	Q86SQ7.
GermOnline	ENSG00000054282. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	SDCCAG8. human.
GenomeRNAi	10806.
NextBio	41047.
SOURCE	Search...

Entry information

Entry name

SDCG8_HUMAN

Accession

Primary (citable) accession number: Q86SQ7
Secondary accession number(s): O60527 , Q3ZCR6, Q8N5F2, Q9P0F1

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 10, 2006
Last sequence update:	June 1, 2003
Last modified:	May 1, 2013
This is version 82 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.