1. Gene
  2. CNTRL - centriolin Gene

CNTRL - centriolin Gene

Homo sapiens

Also known as FAN; CEP1; CEP110; bA165P4.1

Gene ID: 11064 | Gene type: protein coding

About CNTRL

Cytogenetic location: 9q33.2 Genomic coordinates (GRCh38): 9:121,074,955-121,177,610 (from NCBI)

This gene has 34 transcripts (splice variants), 190 orthologues and is associated with 74 phenotypes. Broad expression in testis (RPKM 22.4), lymph node (RPKM 12.1) and 21 other tissues.

Summary

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. [provided by RefSeq, Jul 2008]

CNTRL Products(7)

mRNA Protein Name
NM_001330762.2 NP_001317691.1 centriolin isoform 2
NM_001369892.1 NP_001356821.1 centriolin isoform 3
NM_001369893.1 NP_001356822.1 centriolin isoform 4
NM_001369894.1 NP_001356823.1 centriolin isoform 5
NM_001369895.1 NP_001356824.1 centriolin isoform 6
NM_001369896.1 NP_001356825.1 centriolin isoform 7
NM_007018.6 NP_008949.4 centriolin isoform 1

CNTRL Protein Structure

LRR_9

LRR_9: Leucine-rich repeat (130 - 275)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2325 a.a.
Protein Preferred Names Protein Names

centriolin

110 kDa centrosomal protein

Related Diseases

Diseases Alias
Cortical Deafness
Auditory Agnosia
Lymphoblastic Lymphoma

Lymphoma, Lymphoblastic

Lymphoma Lymphoblastic

Precursor Cell Lymphoblastic Lymphoma

Precursor Cell Lymphoblastic Leukemia Lymphoma

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus CNTRL VGNC VGNC:52755
Macaca mulatta CNTRL VGNC VGNC:71204
Canis familiaris CNTRL VGNC VGNC:51704
Rattus norvegicus CNTRL RGD RGD:1305317
Mus musculus CNTRL MGD MGI:1889576