CEP131 - centrosomal protein 131 Gene

Also Known as AZ1; ZA1; AZI1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 22994

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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
22797915 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
24550735 GOA
enables protein-containing complex binding IDA
IDA: Inferred from direct assay
24550735 GOA
Biological Process GO Annotation Evidence References Source
involved in intraciliary transport involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
24550735 GOA
involved in positive regulation of cell population proliferation IMP
IMP: Inferred from mutant phenotype
22797915 GOA
involved in positive regulation of intracellular protein transport IMP
IMP: Inferred from mutant phenotype
24550735 GOA
involved in protein localization to centrosome IMP
IMP: Inferred from mutant phenotype
26297806 GOA
involved in regulation of centrosome duplication IMP
IMP: Inferred from mutant phenotype
22797915 GOA
Cellular Component GO Annotation Evidence References Source
located in centriolar satellite IDA
IDA: Inferred from direct assay
22797915 GOA
colocalizes with centrosome IDA
IDA: Inferred from direct assay
14654843 GOA
located in centrosome IDA
IDA: Inferred from direct assay
21399614 GOA
located in ciliary basal body IDA
IDA: Inferred from direct assay
27224062 GOA
located in ciliary transition zone IDA
IDA: Inferred from direct assay
24415959 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
Protein Preferred Names Protein Names

centrosomal protein of 131 kDa

  • 5-azacytidine induced 1

CEP131 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CEP131 Q9UPN4 CEP290 Homo sapiens O15078
Anti Bait CoIP
24816561
Intra
CEP131 Q9UPN4 CEP152 Homo sapiens O94986
Anti Bait CoIP
26297806
Intra
CEP131 Q9UPN4 PCM1 Homo sapiens Q15154
Anti Tag CoIP
35271311
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02500 CEP131 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

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
Others CEP131 NCBI