Centrosomal Protein 1

Alternative Names

  • CEP1
  • CEP110
  • FAN
  • CEP1/FGFR1 Fusion Gene, Included
  • CNTRL
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OMIM Number

605496

NCBI Gene ID

11064

Uniprot ID

Q7Z7A1

Length

102,719 bases

No. of Exons

48

No. of isoforms

5

Protein Name

Centriolin

Molecular Mass

268886 Da

Amino Acid Count

2325

Genomic Location

chr9:121,074,891-121,177,609

Gene Map Locus
9q33.2

Description

This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_007018.6:c.586C>TEgyptNC_000009.12:g.121096528C>TLikely PathogenicMicrocephaly 3, Primary, Autosomal RecessiveNM_007018.6:c.586C>T; NP_008949.4:p.Arg196Ter752360366
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