SDCCAG8

SDCCAG8
Identifiers
AliasesSDCCAG8, BBS16, CCCAP, CCCAP SLSN7, NPHP10, NY-CO-8, SLSN7, hCCCAP, HSPC085, serologically defined colon cancer antigen 8
External IDsMGI: 1924066 HomoloGene: 4839 GeneCards: SDCCAG8
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1q43-q44Start243,256,034 bp[1]
End243,500,092 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

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]

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. 1 2 3 ENSG00000276111 GRCh38: Ensembl release 89: ENSG00000054282, ENSG00000276111 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026504 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  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. 1 2 3 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

  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Brandenberger R, Wei H, Zhang S, et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Andersen JS, Wilkinson CJ, Mayor T, et al. (2003). "Proteomic characterization of the human centrosome by protein correlation profiling". Nature. 426 (6966): 570–4. doi:10.1038/nature02166. PMID 14654843.
  • Kenedy AA, Cohen KJ, Loveys DA, et al. (2003). "Identification and characterization of the novel centrosome-associated protein CCCAP". Gene. 303: 35–46. doi:10.1016/S0378-1119(02)01141-1. PMID 12559564.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Zhang QH, Ye M, Wu XY, et al. (2001). "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 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.


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