1. Gene
  2. CEP131 - centrosomal protein 131 Gene

CEP131 - centrosomal protein 131 Gene

Homo sapiens

Also known as AZ1; ZA1; AZI1

Gene ID: 22994 | Gene type: protein coding

About CEP131

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,189,596-81,222,965 (from NCBI)

This gene has 8 transcripts (splice variants) and 187 orthologues. Broad expression in testis (RPKM 7.3), spleen (RPKM 3.7) and 25 other tissues.

Summary

Enables protein homodimerization activity. Involved in several processes, including intraciliary transport involved in cilium assembly; protein localization to centrosome; and regulation of centrosome duplication. Located in several cellular components, including ciliary transition zone; intercellular bridge; and microtubule organizing center. Colocalizes with centrosome. [provided by Alliance of Genome Resources, Apr 2022]

CEP131 Products(4)

mRNA Protein Name
NM_001009811.4 NP_001009811.2 centrosomal protein of 131 kDa isoform b
NM_001319228.2 NP_001306157.1 centrosomal protein of 131 kDa isoform c
NM_001319229.2 NP_001306158.1 centrosomal protein of 131 kDa isoform d
NM_014984.4 NP_055799.2 centrosomal protein of 131 kDa isoform a
Protein Preferred Names Protein Names

centrosomal protein of 131 kDa

5-azacytidine induced 1

Related Diseases

Diseases Alias
Female-Restricted Syndromic X-Linked Intellectual Disability 99

X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability

Intellectual Disability, X-Linked 99, Syndromic, Female-Restricted

Female-Restricted Syndromic X-Linked Mental Retardation 99

Mrxs99f

X-Linked Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Syndrome Limited To Females

Simpson-Golabi-Behmel Syndrome, Type 2

Simpson-Golabi-Behmel Syndrome Type 2

SGBS2

Simpson-Golabi-Behmel Syndrome 2

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

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
Canis familiaris CEP131 VGNC VGNC:51939
Macaca mulatta CEP131 VGNC VGNC:71137
Rattus norvegicus CEP131 RGD RGD:1307745
Mus musculus CEP131 MGD MGI:107440
Bos taurus CEP131 VGNC VGNC:27192
Felis catus CEP131 VGNC VGNC:60767