SDCCAG8

Serologically defined colon cancer antigen 8 is a protein that in humans is encoded by the SDCCAG8 gene.[5][6] This protein localizes to the centrioles.[7]

SDCCAG8
Identifiers
AliasesSDCCAG8, BBS16, CCCAP, CCCAP SLSN7, NPHP10, NY-CO-8, SLSN7, hCCCAP, HSPC085, serologically defined colon cancer antigen 8, SHH signaling and ciliogenesis regulator SDCCAG8
External IDsOMIM: 613524 MGI: 1924066 HomoloGene: 4839 GeneCards: SDCCAG8
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1q43-q44Start243,256,034 bp[1]
End243,500,091 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

10806

76816

Ensembl

ENSG00000054282
ENSG00000276111

ENSMUSG00000026504

UniProt

Q86SQ7

Q80UF4

RefSeq (mRNA)

NM_029756
NM_001357390

RefSeq (protein)

NP_084032
NP_001344319

Location (UCSC)Chr 1: 243.26 – 243.5 MbChr 1: 176.81 – 177.02 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Clinical significance

Mutations in SDCCAG8 have been found to cause nephronophthisis-related ciliopathies.[7]

Interactions

SDCCAG8 has been shown to interact directly with OFD1, a protein that is also associated with nephronophthisis-related ciliopathies.[7]

References

  1. ENSG00000276111 GRCh38: Ensembl release 89: ENSG00000054282, ENSG00000276111 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000026504 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Scanlan MJ, Chen YT, Williamson B, Gure AO, Stockert E, Gordan JD, Tureci O, Sahin U, Pfreundschuh M, Old LJ (Jun 1998). "Characterization of human colon cancer antigens recognized by autologous antibodies". Int J Cancer. 76 (5): 652–8. doi:10.1002/(SICI)1097-0215(19980529)76:5<652::AID-IJC7>3.0.CO;2-P. PMID 9610721.
  6. "Entrez Gene: SDCCAG8 serologically defined colon cancer antigen 8".
  7. Otto EA, Hurd TW, Airik R, et al. (October 2010). "Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy". Nat. Genet. 42 (10): 840–50. doi:10.1038/ng.662. PMC 2947620. PMID 20835237.

Further reading


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