CENPB centromere protein B [Homo sapiens (human)] - Gene

Summary

Official Symbol: CENPBprovided by HGNC
Official Full Name: centromere protein Bprovided by HGNC
Primary source: HGNC:HGNC:1852
See related: Ensembl:ENSG00000125817 MIM:117140; AllianceGenome:HGNC:1852
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
Summary: This gene product is a highly conserved protein that facilitates centromere formation. It is a DNA-binding protein that is derived from transposases of the pogo DNA transposon family. It contains a helix-loop-helix DNA binding motif at the N-terminus, and a dimerization domain at the C-terminus. The DNA binding domain recognizes and binds a 17-bp sequence (CENP-B box) in the centromeric alpha satellite DNA. This protein is proposed to play an important role in the assembly of specific centromere structures in interphase nuclei and on mitotic chromosomes. It is also considered a major centromere autoantigen recognized by sera from patients with anti-centromere antibodies. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 20p13

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (3783851..3786740, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (3814791..3817680, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (3764498..3767387, complement)

Chromosome 20 - NC_000020.11 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?

LINC01123 potentially correlates with radioresistance in glioma through the miR-151a/CENPB axis.
Title: LINC01123 potentially correlates with radioresistance in glioma through the miR-151a/CENPB axis.
CENP-B promotes the centromeric localization of ZFAT to control transcription of noncoding RNA.
Title: CENP-B promotes the centromeric localization of ZFAT to control transcription of noncoding RNA.
Centromeric transcription maintains centromeric cohesion in human cells.
Title: Centromeric transcription maintains centromeric cohesion in human cells.
Proteomics characterization of CENP-B epitope in Moroccan scleroderma patients with anti-centromere autoantibodies.
Title: Proteomics characterization of CENP-B epitope in Moroccan scleroderma patients with anti-centromere autoantibodies.
The Elusive Structure of Centro-Chromatin: Molecular Order or Dynamic Heterogenetity?
Title: The Elusive Structure of Centro-Chromatin: Molecular Order or Dynamic Heterogenetity?
A genetic memory initiates the epigenetic loop necessary to preserve centromere position.
Title: A genetic memory initiates the epigenetic loop necessary to preserve centromere position.
From evolution to function: Two sides of the same CENP-B coin?
Title: From evolution to function: Two sides of the same CENP-B coin?
Given that CENP-B is the only centromere protein that binds centromere-specific DNA elements, our study provides a new link between centromere DNA and unique epigenetic landscape of centromere chromatin
Title: CENP-B protects centromere chromatin integrity by facilitating histone deposition via the H3.3-specific chaperone Daxx.
Upon cross-linking, the entire CENPA/CENPB/CENPC/CENPT complex is nuclease-protected over an alpha-satellite dimer that comprises the fundamental unit of centromeric chromatin. We conclude that CENPA/CENPC and CENPT pathways for kinetochore assembly are physically integrated over young alpha-satellite dimers.
Title: CENPT bridges adjacent CENPA nucleosomes on young human α-satellite dimers.
Findings indicate that expression of the scleroderma autoantigens IFI-16 and CENPs, which are associated with severe vascular disease, is increased in vascular progenitors and mature endothelial cells. High level, lineage-enriched expression of autoantigens may explain the striking association between clinical phenotypes and the immune targeting of specific autoantigens.
Title: Enrichment of Scleroderma Vascular Disease-Associated Autoantigens in Endothelial Lineage Cells.

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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

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

RH78109 (e-PCR)
- UniSTS:44092

Bdyc4e10 (e-PCR)
- UniSTS:33477

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables centromeric DNA binding	IC Inferred by Curator more info	PubMed
enables chromatin binding	NAS Non-traceable Author Statement more info	PubMed
enables satellite DNA binding	NAS Non-traceable Author Statement more info	PubMed
enables sequence-specific DNA binding	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, centromeric region	IDA Inferred from Direct Assay more info	PubMed
located_in condensed chromosome, centromeric region	IEA Inferred from Electronic Annotation more info
located_in nuclear body	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
part_of pericentric heterochromatin	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: major centromere autoantigen B

Names: CENP-B; centromere autoantigen B; centromere protein B, 80kDa

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_001810.6 → NP_001801.1 major centromere autoantigen B

See identical proteins and their annotated locations for NP_001801.1

Status: REVIEWED

Source sequence(s)

AL109804, BC003649, BC053847

Consensus CDS

CCDS13064.1

UniProtKB/Swiss-Prot

P07199, Q96EI4

Related

ENSP00000369075.4, ENST00000379751.5

Conserved Domains (4) summary

smart00674
Location:74 → 135

CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases

pfam03184
Location:222 → 384

DDE_1; DDE superfamily endonuclease

pfam04218
Location:2 → 56

CENP-B_N; CENP-B N-terminal DNA-binding domain

pfam09026
Location:539 → 598

CENP-B_dimeris; Centromere protein B dimerization domain