CENPV centromere protein V [Homo sapiens (human)] - Gene

Summary

Official Symbol: CENPVprovided by HGNC
Official Full Name: centromere protein Vprovided by HGNC
Primary source: HGNC:HGNC:29920
See related: Ensembl:ENSG00000166582 MIM:608139; AllianceGenome:HGNC:29920
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: p30; PRR6; CENP-V; 3110013H01Rik
Summary: Predicted to enable carbon-sulfur lyase activity and metal ion binding activity. Involved in several processes, including centromere complex assembly; pericentric heterochromatin formation; and positive regulation of cytokinesis. Acts upstream of or within ameboidal-type cell migration. Located in several cellular components, including midbody; nucleus; and spindle midzone. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in small intestine (RPKM 17.0), duodenum (RPKM 16.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p11.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (16342537..16353469, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (16244860..16255803, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (16245851..16256783, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results suggest that CENP-V (nuclear protein p30) is required for centromere organization, chromosome alignment and cytokinesis in human cells
Title: CENP-V is required for centromere organization, chromosome alignment and cytokinesis.

Submit: New GeneRIF Correction

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
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. 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

G20572 (e-PCR)
- UniSTS:46151

STS-G20572 (e-PCR)
- UniSTS:46152

RH16154 (e-PCR)
- UniSTS:45909

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbon-sulfur lyase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within ameboidal-type cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in centromere complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pericentric heterochromatin formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in pericentric heterochromatin formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytokinesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of chromosome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of chromosome organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in kinetochore	IBA Inferred from Biological aspect of Ancestor more info
located_in kinetochore	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in midbody	IDA Inferred from Direct Assay more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in spindle midzone	IBA Inferred from Biological aspect of Ancestor more info
located_in spindle midzone	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: centromere protein V

Names: nuclear protein p30; proline rich 6; proline-rich protein 6

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.