SDCCAG8

SDCCAG8
Identifiers
Aliases	SDCCAG8 , BBS16, CCCAP, CCCAP SLSN7, NPHP10, NY-CO-8, SLSN7, hCCCAP, HSPC085, serologically defined colon cancer antigen 8, SHH signaling and ciliogenesis regulator SDCCAG8
External IDs	OMIM: 613524; MGI: 1924066; HomoloGene: 4839; GeneCards: SDCCAG8; OMA:SDCCAG8 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1q43-q44 Start 243,256,034 bp [1] End 243,500,091 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1|1 H4 Start 176,814,660 bp [2] End 177,020,437 bp [2]
RNA expression pattern Bgee Human Mouse (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 Species Human Mouse 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 Mb Chr 1: 176.81 – 177.02 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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. 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

• 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.