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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02500	CEP131 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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