CENPA centromere protein A [Homo sapiens (human)] - Gene

Summary

Official Symbol: CENPAprovided by HGNC
Official Full Name: centromere protein Aprovided by HGNC
Primary source: HGNC:HGNC:1851
See related: Ensembl:ENSG00000115163 MIM:117139; AllianceGenome:HGNC:1851
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CenH3; CENP-A
Summary: Centromeres are the differentiated chromosomal domains that specify the mitotic behavior of chromosomes. This gene encodes a centromere protein which contains a histone H3 related histone fold domain that is required for targeting to the centromere. Centromere protein A is proposed to be a component of a modified nucleosome or nucleosome-like structure in which it replaces 1 or both copies of conventional histone H3 in the (H3-H4)2 tetrameric core of the nucleosome particle. The protein is a replication-independent histone that is a member of the histone H3 family. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2015]
Expression: Broad expression in lymph node (RPKM 4.5), appendix (RPKM 2.5) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (26786056..26794589)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (26827645..26836182)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (27008924..27017457)

Chromosome 2 - NC_000002.12 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
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?

CENPA promotes glutamine metabolism and tumor progression by up-regulating SLC38A1 in endometrial cancer.
Title: CENPA promotes glutamine metabolism and tumor progression by up-regulating SLC38A1 in endometrial cancer.
CENPA functions as a transcriptional regulator to promote hepatocellular carcinoma progression via cooperating with YY1.
Title: CENPA functions as a transcriptional regulator to promote hepatocellular carcinoma progression via cooperating with YY1.
The CENP-A nucleosome: where and when it happens during the inner kinetochore's assembly.
Title: The CENP-A nucleosome: where and when it happens during the inner kinetochore's assembly.
MLL methyltransferases regulate H3K4 methylation to ensure CENP-A assembly at human centromeres.
Title: MLL methyltransferases regulate H3K4 methylation to ensure CENP-A assembly at human centromeres.
The Sequence Dependent Nanoscale Structure of CENP-A Nucleosomes.
Title: The Sequence Dependent Nanoscale Structure of CENP-A Nucleosomes.
Structure of the human inner kinetochore bound to a centromeric CENP-A nucleosome.
Title: Structure of the human inner kinetochore bound to a centromeric CENP-A nucleosome.
Gene replacement strategies validate the use of functional tags on centromeric chromatin and invalidate an essential role for CENP-A(K124ub).
Title: Gene replacement strategies validate the use of functional tags on centromeric chromatin and invalidate an essential role for CENP-A(K124ub).
Centromere Protein A (CENPA) Regulates Metabolic Reprogramming in the Colon Cancer Cells by Transcriptionally Activating Karyopherin Subunit Alpha 2 (KPNA2).
Title: Centromere Protein A (CENPA) Regulates Metabolic Reprogramming in the Colon Cancer Cells by Transcriptionally Activating Karyopherin Subunit Alpha 2 (KPNA2).
CENP-A overexpression promotes aneuploidy with karyotypic heterogeneity.
Title: CENP-A overexpression promotes aneuploidy with karyotypic heterogeneity.
CENP-A chromatin prevents replication stress at centromeres to avoid structural aneuploidy.
Title: CENP-A chromatin prevents replication stress at centromeres to avoid structural aneuploidy.

Submit: New GeneRIF Correction See all GeneRIFs (121)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	HIV-1 Vpr and p300/HAT co-localizes with CENP-A and CENP-H proteins in the centromere and arm region of chromosome	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
enables structural constituent of chromatin	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in CENP-A containing chromatin assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment of mitotic spindle orientation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in kinetochore assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in mitotic cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to CENP-A containing chromatin	NAS Non-traceable Author Statement more info	PubMed
involved_in protein localization to chromosome, centromeric region	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of CENP-A containing nucleosome	IDA Inferred from Direct Assay more info	PubMed
part_of CENP-A containing nucleosome	IPI Inferred from Physical Interaction more info	PubMed
located_in chromosome, centromeric region	IDA Inferred from Direct Assay more info	PubMed
located_in condensed chromosome, centromeric region	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of nucleosome	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of pericentric heterochromatin	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: histone H3-like centromeric protein A

Names: centromere autoantigen A; centromere protein A, 17kDa; centromere-specific histone

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_001042426.2 → NP_001035891.1 histone H3-like centromeric protein A isoform b

See identical proteins and their annotated locations for NP_001035891.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The resulting protein (isoform b) is shorter than isoform a.

Source sequence(s)

AC011740, BC000881

Consensus CDS

CCDS42662.1

UniProtKB/Swiss-Prot

P49450

Related

ENSP00000233505.8, ENST00000233505.12

Conserved Domains (1) summary

cl23735
Location:34 → 111

H4; Histone H4, one of the four histones, along with H2A, H2B and H3, which forms the eukaryotic nucleosome core; along with H3, it plays a central role in nucleosome formation; histones bind to DNA and wrap the genetic material into "beads on a string" in ...
NM_001809.4 → NP_001800.1 histone H3-like centromeric protein A isoform a

See identical proteins and their annotated locations for NP_001800.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC011740

Consensus CDS

CCDS1729.1

UniProtKB/Swiss-Prot

D6W544, P49450, Q53T74, Q9BVW2

Related

ENSP00000336868.4, ENST00000335756.9

Conserved Domains (1) summary

smart00428
Location:34 → 137

H3; Histone H3