CEP131 centrosomal protein 131 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CEP131provided by HGNC
Official Full Name: centrosomal protein 131provided by HGNC
Primary source: HGNC:HGNC:29511
See related: Ensembl:ENSG00000141577 MIM:613479; AllianceGenome:HGNC:29511
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AZ1; ZA1; AZI1
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 ciliary transition zone; microtubule organizing center; and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis (RPKM 7.3), spleen (RPKM 3.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (81189596..81222965, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (82097947..82132127, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (79163396..79196765, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hepatic ARID3A facilitates liver cancer malignancy by cooperating with CEP131 to regulate an embryonic stem cell-like gene signature.
Title: Hepatic ARID3A facilitates liver cancer malignancy by cooperating with CEP131 to regulate an embryonic stem cell-like gene signature.
These findings demonstrate that Cep131 is a novel substrate of Plk4, and that phosphorylation or dysregulated Cep131 overexpression promotes Plk4 stabilization and therefore centrosome amplification, establishing a perspective in understanding a relationship between centrosome amplification and cancer development.
Title: Cep131 overexpression promotes centrosome amplification and colon cancer progression by regulating Plk4 stability.
PLK4 phosphorylates CEP131 at Ser-78 to maintain centriolar satellite integrity.
Title: Polo-like kinase 4 maintains centriolar satellite integrity by phosphorylation of centrosomal protein 131 (CEP131).
RNA of AZI1 functions as the "initiator" RNA to induce TMPRSS2-ERG fusion.
Title: RNA-mediated gene fusion in mammalian cells.
CEP131 serves as a potential prognostic biomarker in HCC
Title: CEP131 indicates poor prognosis and promotes cell proliferation and migration in hepatocellular carcinoma.
CEP131 is the key regulatory target of MK2 and 14-3-3 in centriolar satellite remodeling.
Title: p38- and MK2-dependent signalling promotes stress-induced centriolar satellite remodelling via 14-3-3-dependent sequestration of CEP131/AZI1.
These data therefore highlight the importance of human Cep131 for maintaining genomic integrity
Title: The centriolar satellite protein Cep131 is important for genome stability.
Analysis of the data suggested that SP1 is a pivotal transcription factor for the regulation of CEP131 expression, consequently leading the control of centrosome functions.
Title: Regulation of CEP131 gene expression by SP1.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH16520 (e-PCR)
- UniSTS:4651

SHGC-147035 (e-PCR)
- UniSTS:172736

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in intraciliary transport involved in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intramanchette transport	IEA Inferred from Electronic Annotation more info
involved_in manchette assembly	IEA Inferred from Electronic Annotation more info
involved_in non-motile cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of intracellular protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to centrosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of centrosome duplication	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of centrosome duplication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sperm axoneme assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IEA Inferred from Electronic Annotation more info
is_active_in centriolar satellite	IBA Inferred from Biological aspect of Ancestor more info
located_in centriolar satellite	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	IEA Inferred from Electronic Annotation more info
colocalizes_with centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary transition zone	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in manchette	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in sperm head-tail coupling apparatus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: centrosomal protein of 131 kDa

Names: 5-azacytidine induced 1; 5-azacytidine-induced protein 1; centrosomal protein 131 kDa; centrosomal protein 131kDa; pre-acrosome localization protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001009811.4 → NP_001009811.2 centrosomal protein of 131 kDa isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 3. This variant encodes isoform b, which is shorter than isoform c.

Source sequence(s)

AC027601

Consensus CDS

CCDS32764.1

UniProtKB/TrEMBL

B2RN10

Related

ENSP00000363914.3, ENST00000374782.7

Conserved Domains (1) summary

PHA03252
Location:862 → 973

PHA03252; DNA packaging tegument protein UL25; Provisional
NM_001319228.2 → NP_001306157.1 centrosomal protein of 131 kDa isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) encodes the longest isoform (c).

Source sequence(s)

AC027601

Consensus CDS

CCDS82215.1

UniProtKB/Swiss-Prot

A6NHI8, B2RN11, Q96F50, Q9UPN4

UniProtKB/TrEMBL

B2RN10

Related

ENSP00000269392.4, ENST00000269392.8

Conserved Domains (3) summary

PHA03252
Location:901 → 1012

PHA03252; DNA packaging tegument protein UL25; Provisional

cd16269
Location:881 → 891

GBP_C; coiled coil [structural motif]

cl20817
Location:799 → 902

GBP_C; Guanylate-binding protein, C-terminal domain
NM_001319229.2 → NP_001306158.1 centrosomal protein of 131 kDa isoform d

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an exon in the coding region, compared to variant 3. The encoded isoform (d) is shorter, compared to isoform c.

Source sequence(s)

AC027601

Consensus CDS

CCDS82214.1

UniProtKB/TrEMBL

B2RN10, I3L2J8

Related

ENSP00000459733.1, ENST00000575907.5

Conserved Domains (2) summary

PTZ00121
Location:280 → 1037

PTZ00121; MAEBL; Provisional

COG1196
Location:783 → 1041

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
NM_014984.4 → NP_055799.2 centrosomal protein of 131 kDa isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 5' coding region, compared to variant 3. This results in a shorter protein (isoform a), compared to isoform c.

Source sequence(s)

AC027601

Consensus CDS

CCDS45808.1

UniProtKB/TrEMBL

B2RN10

Related

ENSP00000393583.2, ENST00000450824.7

Conserved Domains (3) summary

PHA03252
Location:898 → 1009

PHA03252; DNA packaging tegument protein UL25; Provisional

cd16269
Location:878 → 888

GBP_C; coiled coil [structural motif]

cl20817
Location:796 → 899

GBP_C; Guanylate-binding protein, C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

81189596..81222965 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047435665.1 → XP_047291621.1 centrosomal protein of 131 kDa isoform X16
XM_047435662.1 → XP_047291618.1 centrosomal protein of 131 kDa isoform X13
XM_047435661.1 → XP_047291617.1 centrosomal protein of 131 kDa isoform X11
XM_047435658.1 → XP_047291614.1 centrosomal protein of 131 kDa isoform X6
XM_047435659.1 → XP_047291615.1 centrosomal protein of 131 kDa isoform X8
XM_011524548.3 → XP_011522850.1 centrosomal protein of 131 kDa isoform X2

UniProtKB/TrEMBL

B2RN10

Conserved Domains (3) summary

PHA03252
Location:903 → 1014

PHA03252; DNA packaging tegument protein UL25; Provisional

cd16269
Location:882 → 893

GBP_C; coiled coil [structural motif]

cl20817
Location:796 → 904

GBP_C; Guanylate-binding protein, C-terminal domain
XM_047435663.1 → XP_047291619.1 centrosomal protein of 131 kDa isoform X14
XM_011524553.3 → XP_011522855.1 centrosomal protein of 131 kDa isoform X12

UniProtKB/TrEMBL

B2RN10

Conserved Domains (2) summary

PHA03252
Location:865 → 976

PHA03252; DNA packaging tegument protein UL25; Provisional

cl23720
Location:935 → 1025

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
XM_011524552.3 → XP_011522854.1 centrosomal protein of 131 kDa isoform X10

UniProtKB/TrEMBL

B2RN10

Conserved Domains (1) summary

PHA03252
Location:870 → 981

PHA03252; DNA packaging tegument protein UL25; Provisional
XM_011524550.3 → XP_011522852.1 centrosomal protein of 131 kDa isoform X4

UniProtKB/TrEMBL

B2RN10

Conserved Domains (4) summary

PHA03252
Location:900 → 1011

PHA03252; DNA packaging tegument protein UL25; Provisional

pfam13868
Location:578 → 891

TPH; Trichohyalin-plectin-homology domain

cd16269
Location:879 → 890

GBP_C; coiled coil [structural motif]

cl20817
Location:799 → 901

GBP_C; Guanylate-binding protein, C-terminal domain
XM_047435660.1 → XP_047291616.1 centrosomal protein of 131 kDa isoform X9
XM_011524551.3 → XP_011522853.1 centrosomal protein of 131 kDa isoform X7

UniProtKB/TrEMBL

B2RN10

Conserved Domains (3) summary

PHA03252
Location:906 → 1017

PHA03252; DNA packaging tegument protein UL25; Provisional

cd16269
Location:885 → 896

GBP_C; coiled coil [structural motif]

cl20817
Location:799 → 907

GBP_C; Guanylate-binding protein, C-terminal domain
XM_011524555.3 → XP_011522857.1 centrosomal protein of 131 kDa isoform X1

See identical proteins and their annotated locations for XP_011522857.1

UniProtKB/TrEMBL

B2RN10

Conserved Domains (3) summary

PHA03252
Location:906 → 1017

PHA03252; DNA packaging tegument protein UL25; Provisional

cd16269
Location:885 → 896

GBP_C; coiled coil [structural motif]

cl20817
Location:799 → 907

GBP_C; Guanylate-binding protein, C-terminal domain
XM_047435664.1 → XP_047291620.1 centrosomal protein of 131 kDa isoform X15
XM_047435657.1 → XP_047291613.1 centrosomal protein of 131 kDa isoform X5
XM_047435656.1 → XP_047291612.1 centrosomal protein of 131 kDa isoform X3

UniProtKB/Swiss-Prot

A6NHI8, B2RN11, Q96F50, Q9UPN4