CNTRL - centriolin Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11064

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

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
17140400 GOA
Cellular Component GO Annotation Evidence References Source
part of centriolar subdistal appendage IDA
IDA: Inferred from direct assay
23213374 GOA
located in centrosome IDA
IDA: Inferred from direct assay
15337773 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02938 CNTRL Human Pre-designed siRNA Set A Pre-designed Set / Unkown

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
Others CNTRL NCBI