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Q86SQ7

- SDCG8_HUMAN

UniProt

Q86SQ7 - SDCG8_HUMAN

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Protein

Serologically defined colon cancer antigen 8

Gene

SDCCAG8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Plays a role in the establishment of cell polarity and epithelial lumen formation (By similarity). May play a role in ciliogenesis.By similarity

GO - Biological processi

  1. establishment of cell polarity Source: UniProtKB
  2. G2/M transition of mitotic cell cycle Source: Reactome
  3. mitotic cell cycle Source: Reactome
  4. tube formation Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_15296. Recruitment of mitotic centrosome proteins and complexes.
REACT_15364. Loss of Nlp from mitotic centrosomes.
REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

Names & Taxonomyi

Protein namesi
Recommended name:
Serologically defined colon cancer antigen 8
Alternative name(s):
Antigen NY-CO-8
Centrosomal colon cancer autoantigen protein
Short name:
hCCCAP
Gene namesi
Name:SDCCAG8
Synonyms:CCCAP, NPHP10
ORF Names:HSPC085
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:10671. SDCCAG8.

Subcellular locationi

Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole. Cell junction
Note: Located at the distal ends of both centrioles and colocalizes to centrosomes throughout the cell cycle.

GO - Cellular componenti

  1. cell-cell junction Source: UniProtKB
  2. centriole Source: UniProtKB
  3. centrosome Source: UniProtKB
  4. cytosol Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Ciliopathy, Leber congenital amaurosis, Nephronophthisis, Senior-Loken syndrome

Organism-specific databases

MIMi613615. phenotype.
Orphaneti110. Bardet-Biedl syndrome.
3156. Senior-Loken syndrome.
PharmGKBiPA35601.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 713713Serologically defined colon cancer antigen 8PRO_0000076310Add
BLAST

Proteomic databases

MaxQBiQ86SQ7.
PaxDbiQ86SQ7.
PRIDEiQ86SQ7.

PTM databases

PhosphoSiteiQ86SQ7.

Expressioni

Tissue specificityi

Expressed in thymus, prostate, testis, ovary, small intestine, colon, mucosa, colon and renal cancer tumors.1 Publication

Gene expression databases

BgeeiQ86SQ7.
CleanExiHS_SDCCAG8.
ExpressionAtlasiQ86SQ7. baseline and differential.
GenevestigatoriQ86SQ7.

Organism-specific databases

HPAiHPA044477.

Interactioni

Subunit structurei

Homodimer (By similarity). Interacts with OFD1; the interaction is direct. Interacts with FAM161A.By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
gagP045912EBI-1047850,EBI-6179719From a different organism.

Protein-protein interaction databases

BioGridi116020. 4 interactions.
IntActiQ86SQ7. 9 interactions.
MINTiMINT-6777914.
STRINGi9606.ENSP00000355499.

Structurei

3D structure databases

ProteinModelPortaliQ86SQ7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni216 – 713498Sufficient for homodimerizationBy similarityAdd
BLAST
Regioni533 – 713181Mediates interaction with OFD1Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili129 – 17547Sequence AnalysisAdd
BLAST
Coiled coili223 – 27351Sequence AnalysisAdd
BLAST
Coiled coili348 – 707360Sequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi534 – 692159Gln-richAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG69678.
GeneTreeiENSGT00730000111198.
HOGENOMiHOG000133059.
HOVERGENiHBG056806.
InParanoidiQ86SQ7.
KOiK16488.
OMAiQHGRVHE.
OrthoDBiEOG7W6WK8.
PhylomeDBiQ86SQ7.
TreeFamiTF325472.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q86SQ7-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MAKSPENSTL EEILGQYQRS LREHASRSIH QLTCALKEGD VTIGEDAPNL
60 70 80 90 100
SFSTSVGNED ARTAWPELQQ SHAVNQLKDL LRQQADKESE VSPSRRRKMS
110 120 130 140 150
PLRSLEHEET NMPTMHDLVH TINDQSQYIH HLEAEVKFCK EELSGMKNKI
160 170 180 190 200
QVVVLENEGL QQQLKSQRQE ETLREQTLLD ASGNMHNSWI TTGEDSGVGE
210 220 230 240 250
TSKRPFSHDN ADFGKAASAG EQLELEKLKL TYEEKCEIEE SQLKFLRNDL
260 270 280 290 300
AEYQRTCEDL KEQLKHKEFL LAANTCNRVG GLCLKCAQHE AVLSQTHTNV
310 320 330 340 350
HMQTIERLVK ERDDLMSALV SVRSSLADTQ QREASAYEQV KQVLQISEEA
360 370 380 390 400
NFEKTKALIQ CDQLRKELER QAERLEKELA SQQEKRAIEK DMMKKEITKE
410 420 430 440 450
REYMGSKMLI LSQNIAQLEA QVEKVTKEKI SAINQLEEIQ SQLASREMDV
460 470 480 490 500
TKVCGEMRYQ LNKTNMEKDE AEKEHREFRA KTNRDLEIKD QEIEKLRIEL
510 520 530 540 550
DESKQHLEQE QQKAALAREE CLRLTELLGE SEHQLHLTRQ EKDSIQQSFS
560 570 580 590 600
KEAKAQALQA QQREQELTQK IQQMEAQHDK TENEQYLLLT SQNTFLTKLK
610 620 630 640 650
EECCTLAKKL EQISQKTRSE IAQLSQEKRY TYDKLGKLQR RNEELEEQCV
660 670 680 690 700
QHGRVHETMK QRLRQLDKHS QATAQQLVQL LSKQNQLLLE RQSLSEEVDR
710
LRTQLPSMPQ SDC
Length:713
Mass (Da):82,682
Last modified:June 1, 2003 - v1
Checksum:i04D5304DC3E17640
GO
Isoform 2 (identifier: Q86SQ7-2) [UniParc]FASTAAdd to Basket

Also known as: e

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

Show »
Length:360
Mass (Da):40,935
Checksum:i0CF81B6E49398804
GO
Isoform 3 (identifier: Q86SQ7-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:634
Mass (Da):73,315
Checksum:i81926C3C0F50A8A4
GO
Isoform 4 (identifier: Q86SQ7-4) [UniParc]FASTAAdd to Basket

Also known as: b

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

Show »
Length:669
Mass (Da):78,021
Checksum:i2F1594640F02F7BB
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti378 – 3781E → D.
Corresponds to variant rs2275155 [ dbSNP | Ensembl ].
VAR_051333

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei183 – 22644Missing in isoform 4. 1 PublicationVSP_016949Add
BLAST
Alternative sequencei221 – 2255EQLEL → LLDAS in isoform 3. 1 PublicationVSP_016950
Alternative sequencei357 – 3604ALIQ → HPSQ in isoform 2. 1 PublicationVSP_016951
Alternative sequencei361 – 713353Missing in isoform 2. 1 PublicationVSP_016952Add
BLAST
Alternative sequencei538 – 61679Missing in isoform 3. 1 PublicationVSP_016953Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS31075.1. [Q86SQ7-1]
RefSeqiNP_006633.1. NM_006642.3. [Q86SQ7-1]
XP_005273080.1. XM_005273023.2. [Q86SQ7-2]
XP_006725036.1. XM_006724973.1. [Q86SQ7-2]
UniGeneiHs.591530.

Genome annotation databases

EnsembliENST00000366541; ENSP00000355499; ENSG00000054282. [Q86SQ7-1]
ENST00000435549; ENSP00000410200; ENSG00000054282.
ENST00000622598; ENSP00000483550; ENSG00000276111. [Q86SQ7-1]
GeneIDi10806.
KEGGihsa:10806.
UCSCiuc001hzw.3. human. [Q86SQ7-1]
uc001hzx.3. human. [Q86SQ7-3]

Polymorphism databases

DMDMi74713839.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS31075.1. [Q86SQ7-1 ]
RefSeqi NP_006633.1. NM_006642.3. [Q86SQ7-1 ]
XP_005273080.1. XM_005273023.2. [Q86SQ7-2 ]
XP_006725036.1. XM_006724973.1. [Q86SQ7-2 ]
UniGenei Hs.591530.

3D structure databases

ProteinModelPortali Q86SQ7.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116020. 4 interactions.
IntActi Q86SQ7. 9 interactions.
MINTi MINT-6777914.
STRINGi 9606.ENSP00000355499.

PTM databases

PhosphoSitei Q86SQ7.

Polymorphism databases

DMDMi 74713839.

Proteomic databases

MaxQBi Q86SQ7.
PaxDbi Q86SQ7.
PRIDEi Q86SQ7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000366541 ; ENSP00000355499 ; ENSG00000054282 . [Q86SQ7-1 ]
ENST00000435549 ; ENSP00000410200 ; ENSG00000054282 .
ENST00000622598 ; ENSP00000483550 ; ENSG00000276111 . [Q86SQ7-1 ]
GeneIDi 10806.
KEGGi hsa:10806.
UCSCi uc001hzw.3. human. [Q86SQ7-1 ]
uc001hzx.3. human. [Q86SQ7-3 ]

Organism-specific databases

CTDi 10806.
GeneCardsi GC01P243419.
GeneReviewsi SDCCAG8.
HGNCi HGNC:10671. SDCCAG8.
HPAi HPA044477.
MIMi 613524. gene.
613615. phenotype.
neXtProti NX_Q86SQ7.
Orphaneti 110. Bardet-Biedl syndrome.
3156. Senior-Loken syndrome.
PharmGKBi PA35601.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG69678.
GeneTreei ENSGT00730000111198.
HOGENOMi HOG000133059.
HOVERGENi HBG056806.
InParanoidi Q86SQ7.
KOi K16488.
OMAi QHGRVHE.
OrthoDBi EOG7W6WK8.
PhylomeDBi Q86SQ7.
TreeFami TF325472.

Enzyme and pathway databases

Reactomei REACT_15296. Recruitment of mitotic centrosome proteins and complexes.
REACT_15364. Loss of Nlp from mitotic centrosomes.
REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

Miscellaneous databases

ChiTaRSi SDCCAG8. human.
GeneWikii SDCCAG8.
GenomeRNAii 10806.
NextBioi 41047.
PROi Q86SQ7.
SOURCEi Search...

Gene expression databases

Bgeei Q86SQ7.
CleanExi HS_SDCCAG8.
ExpressionAtlasi Q86SQ7. baseline and differential.
Genevestigatori Q86SQ7.

Family and domain databases

ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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: 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.

Entry informationi

Entry nameiSDCG8_HUMAN
AccessioniPrimary (citable) accession number: Q86SQ7
Secondary accession number(s): O60527
, Q3ZCR6, Q8N5F2, Q9P0F1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: June 1, 2003
Last modified: November 26, 2014
This is version 97 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3