SDCCAG8

Protein-coding gene in the species Homo sapiens
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; OMA:SDCCAG8 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for SDCCAG8
Genomic location for SDCCAG8
Band1q43-q44Start243,256,034 bp[1]
End243,500,091 bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for SDCCAG8
Genomic location for SDCCAG8
Band1|1 H4Start176,814,660 bp[2]
End177,020,437 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • corpus callosum

  • Achilles tendon

  • thyroid gland

  • bone marrow cells

  • left lobe of thyroid gland

  • right lobe of thyroid gland

  • sural nerve

  • C1 segment

  • right lung

  • tonsil
Top expressed in
  • neural layer of retina

  • ascending aorta

  • aortic valve

  • granulocyte

  • ventricular zone

  • spermatocyte

  • dentate gyrus of hippocampal formation granule cell

  • spermatid

  • zygote

  • right kidney
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • protein binding
Cellular component
  • cytoplasm
  • cytosol
  • cell junction
  • centriolar satellite
  • cytoskeleton
  • cell-cell junction
  • centrosome
  • centriole
  • microtubule organizing center
  • cell projection
Biological process
  • neuron migration
  • G2/M transition of mitotic cell cycle
  • microtubule organizing center organization
  • establishment of cell polarity
  • tube formation
  • ciliary basal body-plasma membrane docking
  • centrosome cycle
  • regulation of G2/M transition of mitotic cell cycle
  • regulation of cilium assembly
  • cell projection organization
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

10806

76816

Ensembl

ENSG00000054282
ENSG00000276111

ENSMUSG00000026504

UniProt

Q86SQ7

Q80UF4

RefSeq (mRNA)
NM_006642
NM_001350246
NM_001350247
NM_001350248
NM_001350249

NM_001350251

NM_029756
NM_001357390

RefSeq (protein)
NP_006633
NP_001337175
NP_001337176
NP_001337177
NP_001337178

NP_001337180

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. ^ a b c ENSG00000276111 GRCh38: Ensembl release 89: ENSG00000054282, ENSG00000276111 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b c 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. S2CID 27764390.
  • 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. Bibcode:2003Natur.426..570A. doi:10.1038/nature02166. PMID 14654843. S2CID 4427303.
  • 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. Bibcode:2002PNAS...9916899M. 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.


Stub icon

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

  • v
  • t
  • e