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Q86SQ7 (SDCG8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length713 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole. 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

Binary interactions

With

Entry

#Exp.

IntAct

Notes

gagP045912EBI-1047850,EBI-6179719From 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 713713Serologically defined colon cancer antigen 8
PRO_0000076310

Regions

Region216 – 713498Sufficient for homodimerization By similarity
Region533 – 713181Mediates interaction with OFD1
Coiled coil129 – 17547 Potential
Coiled coil223 – 27351 Potential
Coiled coil348 – 707360 Potential
Compositional bias534 – 692159Gln-rich

Natural variations

Alternative sequence183 – 22644Missing in isoform 4.
VSP_016949
Alternative sequence221 – 2255EQLEL → LLDAS in isoform 3.
VSP_016950
Alternative sequence357 – 3604ALIQ → HPSQ in isoform 2.
VSP_016951
Alternative sequence361 – 713353Missing in isoform 2.
VSP_016952
Alternative sequence538 – 61679Missing in isoform 3.
VSP_016953
Natural variant3781E → D.
Corresponds to variant rs2275155 [ dbSNP | Ensembl ].
VAR_051333

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (a) [UniParc].

Last modified June 1, 2003. Version 1.
Checksum: 04D5304DC3E17640

FASTA71382,682
        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 

« Hide

Isoform 2 (e) [UniParc].

Checksum: 0CF81B6E49398804
Show »

FASTA36040,935
Isoform 3 [UniParc].

Checksum: 81926C3C0F50A8A4
Show »

FASTA63473,315
Isoform 4 (b) [UniParc].

Checksum: 2F1594640F02F7BB
Show »

FASTA66978,021

References

« Hide '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. expand/collapse author list , 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: 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. expand/collapse author list , 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.
RefSeqNP_006633.1. NM_006642.3.
XP_005273080.1. XM_005273023.2.
UniGeneHs.591530.

3D structure databases

ProteinModelPortalQ86SQ7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116020. 3 interactions.
IntActQ86SQ7. 9 interactions.
MINTMINT-6777914.
STRING9606.ENSP00000355499.

PTM databases

PhosphoSiteQ86SQ7.

Polymorphism databases

DMDM74713839.

Proteomic databases

PaxDbQ86SQ7.
PRIDEQ86SQ7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000366541; ENSP00000355499; ENSG00000054282. [Q86SQ7-1]
ENST00000391846; ENSP00000375721; ENSG00000054282. [Q86SQ7-2]
ENST00000435549; ENSP00000410200; ENSG00000054282.
GeneID10806.
KEGGhsa:10806.
UCSCuc001hzw.3. human. [Q86SQ7-1]
uc001hzx.3. human. [Q86SQ7-3]

Organism-specific databases

CTD10806.
GeneCardsGC01P243419.
HGNCHGNC:10671. SDCCAG8.
HPAHPA044477.
MIM613524. gene.
613615. phenotype.
neXtProtNX_Q86SQ7.
Orphanet110. Bardet-Biedl syndrome.
3156. Senior-Loken syndrome.
PharmGKBPA35601.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG69678.
HOGENOMHOG000133059.
HOVERGENHBG056806.
InParanoidQ86SQ7.
KOK16488.
OMAQHGRVHE.
OrthoDBEOG7W6WK8.
PhylomeDBQ86SQ7.
TreeFamTF325472.

Enzyme and pathway databases

ReactomeREACT_115566. Cell Cycle.

Gene expression databases

ArrayExpressQ86SQ7.
BgeeQ86SQ7.
CleanExHS_SDCCAG8.
GenevestigatorQ86SQ7.

Family and domain databases

ProtoNetSearch...

Other

ChiTaRSSDCCAG8. human.
GeneWikiSDCCAG8.
GenomeRNAi10806.
NextBio41047.
PROQ86SQ7.
SOURCESearch...

Entry information

Entry nameSDCG8_HUMAN
AccessionPrimary (citable) accession number: Q86SQ7
Secondary accession number(s): O60527 expand/collapse secondary AC list , Q3ZCR6, Q8N5F2, Q9P0F1
Entry history
Integrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: June 1, 2003
Last modified: April 16, 2014
This is version 90 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM