1. Gene
  2. CEP350 - centrosomal protein 350 Gene

CEP350 - centrosomal protein 350 Gene

Homo sapiens

Also known as GM133; CAP350

Gene ID: 9857 | Gene type: protein coding

About CEP350

Cytogenetic location: 1q25.2 Genomic coordinates (GRCh38): 1:179,954,810-180,114,875 (from NCBI)

This gene has 25 transcripts (splice variants) and 204 orthologues. Ubiquitous expression in testis (RPKM 13.0), lymph node (RPKM 5.9) and 25 other tissues.

Summary

The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

CEP350 Products(1)

mRNA Protein Name
NM_014810.5 NP_055625.4 centrosome-associated protein 350

CEP350 Protein Structure

CAP_GLY

CAP_GLY: CAP-Gly domain (2499 - 2563)

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  • 3117 a.a.
Protein Preferred Names Protein Names

centrosome-associated protein 350

centrosomal protein 350kDa

Related Diseases

Diseases Alias
Epidermal Appendage Tumor

Neoplasm Of Skin With Adnexal Differentiation

Neoplasm Of The Skin Appendage

Skin Appendage Tumour

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

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
Macaca mulatta CEP350 VGNC VGNC:71084
Felis catus CEP350 VGNC VGNC:60773
Bos taurus CEP350 VGNC VGNC:27203
Canis familiaris CEP350 VGNC VGNC:39127
Mus musculus CEP350 MGD MGI:1921331
Rattus norvegicus CEP350 RGD RGD:621162