CEP295 - centrosomal protein 295 Gene

Also Known as KIAA1731

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 85459

About CEP295

Cytogenetic location: 11q21 Genomic coordinates (GRCh38): 11:93,661,682-93,730,358 (from NCBI)

This gene has 7 transcripts (splice variants), 151 orthologues and 3 paralogues. Ubiquitous expression in testis (RPKM 2.8), lymph node (RPKM 2.0) and 25 other tissues.

Summary

Enables microtubule binding activity. Involved in several processes, including centriole replication; positive regulation of protein acetylation; and regulation of centrosome duplication. Located in cytosol; microtubule cytoskeleton; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

CEP295 Products (1)

mRNA Protein Name
NM_033395.2 NP_203753.1 centrosomal protein of 295 kDa

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Références Source
enables microtubule binding IDA
IDA: Inferred from direct assay
27185865 GOA
Biological Process GO Annotation Evidence Références Source
involved in centriole replication IDA
IDA: Inferred from direct assay
32060285 GOA
involved in positive regulation of centriole elongation IMP
IMP: Inferred from mutant phenotype
27185865 GOA
involved in positive regulation of centrosome duplication IDA
IDA: Inferred from direct assay
25131205 GOA
involved in positive regulation of establishment of protein localization IMP
IMP: Inferred from mutant phenotype
27185865 GOA
involved in positive regulation of protein acetylation IMP
IMP: Inferred from mutant phenotype
27185865 GOA
Cellular Component GO Annotation Evidence Références Source
located in centriole IDA
IDA: Inferred from direct assay
25131205 GOA
located in centrosome IDA
IDA: Inferred from direct assay
20844083 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
20844083 GOA
located in cytoskeleton IDA
IDA: Inferred from direct assay
20844083 GOA
located in mitotic spindle microtubule IDA
IDA: Inferred from direct assay
27185865 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

CEP295 Protein Structure

ALMS_motif

ALMS_motif: ALMS motif (2476 - 2599)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2400
  • 2601 a.a.
Protein Preferred Names Protein Names

centrosomal protein of 295 kDa

  • centriolar protein CEP295

Related Diseases

Diseases Alias
Primary Autosomal Recessive Microcephaly

  • Autosomal Recessive Primary Microcephaly

  • Mcph

  • True Microcephaly

  • Microcephalia Vera

  • Microcephaly Vera

  • Microcephaly Primary Hereditary

  • Microcephaly, Primary, Autosomal Recessive

  • Primary Microcephaly
Congenital Nervous System Abnormality

  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder
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. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS02512 CEP295 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus CEP295 VGNC VGNC:27202
Rattus norvegicus CEP295 RGD RGD:1311723
Felis catus CEP295 VGNC VGNC:60772
Mus musculus CEP295 MGD MGI:2442521
Canis familiaris CEP295 VGNC VGNC:39126
Macaca mulatta CEP295 VGNC VGNC:71135
Others CEP295 NCBI