Centrosomal Protein 131

Alternative Names

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

Associated Diseases

Spermatogenic Failure 1
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OMIM Number

613479

NCBI Gene ID

22994

Uniprot ID

Q9UPN4

Length

33,370 bases

No. of Exons

26

No. of isoforms

3

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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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_014984.4:c.13C>TSaudi ArabiaNC_000017.11:g.81220044G>ALikely PathogenicSpermatogenic Failure 1NM_014984.4:c.13C>T; NP_055799.2:p.Arg5Trp775115885
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