Centrosomal Protein 131

Alternative Names

CEP131
5-Azacytidine-Induced Gene 1, Mouse, Homolog of
AZI1
AZ1, Mouse, Homolog of
AZ1
Kiaa1118

Length

33,370 bases

No. of Exons

No. of isoforms

Protein Name

Centrosomal protein of 131 kDa

Molecular Mass

122149 Da

Amino Acid Count

1083

Genomic Location

chr17:81,189,596-81,222,965

Gene Map Locus

17q25.3

Description

Enables protein homodimerization activity. Involved in several processes, including intraciliary transport involved in cilium assembly; protein localization to centrosome; and regulation of centrosome duplication. Located in several cellular components, including ciliary transition zone; intercellular bridge; and microtubule organizing center. Colocalizes with centrosome. [From Alliance of Genome Resources]

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_014984.4:c.13C>T	Saudi Arabia	NC_000017.11:g.81220044G>A		Likely Pathogenic	Spermatogenic Failure 1	NM_014984.4:c.13C>T; NP_055799.2:p.Arg5Trp	775115885

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=CEP131 https://www.ncbi.nlm.nih.gov/gene/22994

Contributors

Pratibha Nair: 16.03.2023

Edit History

Pratibha Nair: 16.03.2023

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