CNTRL

Centriolin is a protein that in humans is encoded by the CNTRL gene. It was previously known as CEP110.[5][6]

CNTRL
Identifiers
AliasesCNTRL, CEP1, CEP110, FAN, bA165P4.1, centriolin
External IDsOMIM: 605496 MGI: 1889576 HomoloGene: 38260 GeneCards: CNTRL
Gene location (Human)
Chr.Chromosome 9 (human)[1]
Band9q33.2Start121,074,863 bp[1]
End121,177,610 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

11064

26920

Ensembl

ENSG00000119397

ENSMUSG00000057110

UniProt

Q7Z7A1

A2AL36

RefSeq (mRNA)

NM_001290635
NM_012018
NM_030000
NM_001379274
NM_001379275

RefSeq (protein)

NP_001277564
NP_036148
NP_001366203
NP_001366204

Location (UCSC)Chr 9: 121.07 – 121.18 MbChr 2: 35.11 – 35.18 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 centriolin.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000119397 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000057110 - 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. Guasch G, Mack GJ, Popovici C, Dastugue N, Birnbaum D, Rattner JB, Pebusque MJ (Mar 2000). "FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33)". Blood. 95 (5): 1788–96. doi:10.1182/blood.V95.5.1788.005k15_1788_1796. PMID 10688839.
  6. "Entrez Gene: CEP110 centrosomal protein 110kDa".

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.