CENPH centromere protein H [Homo sapiens (human)] - Gene

Summary

Official Symbol: CENPHprovided by HGNC
Official Full Name: centromere protein Hprovided by HGNC
Primary source: HGNC:HGNC:17268
See related: Ensembl:ENSG00000153044 MIM:605607; AllianceGenome:HGNC:17268
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: Centromere and kinetochore proteins play a critical role in centromere structure, kinetochore formation, and sister chromatid separation. The protein encoded by this gene colocalizes with inner kinetochore plate proteins CENP-A and CENP-C in both interphase and metaphase. It localizes outside of centromeric heterochromatin, where CENP-B is localized, and inside the kinetochore corona, where CENP-E is localized during prometaphase. It is thought that this protein can bind to itself, as well as to CENP-A, CENP-B or CENP-C. Multimers of the protein localize constitutively to the inner kinetochore plate and play an important role in the organization and function of the active centromere-kinetochore complex. [provided by RefSeq, Jul 2008]
Expression: Broad expression in testis (RPKM 14.9), bone marrow (RPKM 9.5) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q13.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (69189583..69210357)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (70012189..70032958)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (68485410..68506184)

Chromosome 5 - NC_000005.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In summary, CENP-H may be involved in cell proliferation and apoptosis of hepatocellular carcinoma (HCC)cells through the mitochondrial apoptotic pathway. Combined with previous studies, the data provide a new perspective on HCC development and progression.
Title: CENP-H regulates the cell growth of human hepatocellular carcinoma cells through the mitochondrial apoptotic pathway.
Upregulation of centromere protein H is associated with progression of renal cell carcinoma
Title: Upregulation of centromere protein H is associated with progression of renal cell carcinoma.
propose that CSPP1 cooperates with CENP-H on kinetochores to serve as a novel regulator of kinetochore microtubule dynamics for accurate chromosome segregation
Title: Mitotic Protein CSPP1 Interacts with CENP-H Protein to Coordinate Accurate Chromosome Oscillation in Mitosis.
CENP-H was overexpressed in HCC, and its level of upregulation was an independent prognostic indicator, suggesting that CENP-H may be an effective therapeutic strategy for the treatment of HCC.
Title: Overexpression of CENP-H as a novel prognostic biomarker for human hepatocellular carcinoma progression and patient survival.
CENP-H promotes the proliferation of human gastric cancer cells
Title: [Role of centromere protein H in human gastric cancer cell proliferation].
High expression of CENP-H in gastric cancer indicates poor prognosis and Survivin may mediate its procancer role.
Title: Combined evaluation of centromere protein H and Ki-67 as prognostic biomarker for patients with gastric carcinoma.
Breast cancer patients with high CENP-H expression had short overall survival. CENP-H expression was related with clinical stage.
Title: Overexpression of centromere protein H is significantly associated with breast cancer progression and overall patient survival.
upregulated CENP-H and Ki67 levels are significantly associated with short relapse-free survival in hypopharyngeal squamous cell carcinoma (HSSC); these factors may be predictors of a relapsing phenotype in HSSC cases
Title: Role of centromere protein H and Ki67 in relapse-free survival of patients after primary surgery for hypopharyngeal cancer.
Sp1 and Sp3 bind to the CENPH minimal promoter and function as a regulator of the transcription of CENPH in nasopharyngeal carcinomas.
Title: Sp1 and Sp3 are involved in the full transcriptional activity of centromere protein H in human nasopharyngeal carcinoma cells.
CENP-H-containing complex facilitates deposition of newly synthesized CENP-A into centromeric chromatin in cooperation with FACT and CHD1.
Title: CENP-H-containing complex facilitates centromere deposition of CENP-A in cooperation with FACT and CHD1.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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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)

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

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 kinetochore binding	IBA Inferred from Biological aspect of Ancestor more info
enables kinetochore binding	IDA Inferred from Direct Assay more info	PubMed
enables kinetochore binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chromosome segregation	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromosome segregation	NAS Non-traceable Author Statement more info	PubMed
involved_in kinetochore assembly	IEA Inferred from Electronic Annotation more info
involved_in kinetochore organization	TAS Traceable Author Statement more info	PubMed
involved_in mitotic spindle organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromosome	IDA Inferred from Direct Assay more info
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in chromosome, centromeric region	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
part_of inner kinetochore	IPI Inferred from Physical Interaction more info	PubMed
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 kinetochore	IEA Inferred from Electronic Annotation more info
located_in kinetochore	IMP Inferred from Mutant Phenotype more info	PubMed
located_in kinetochore	NAS Non-traceable Author Statement more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement 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
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: centromere protein H

Names: CENP-H; interphase centromere complex protein 35; kinetochore protein CENP-H

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_022909.4 → NP_075060.1 centromere protein H

See identical proteins and their annotated locations for NP_075060.1

Status: REVIEWED

Source sequence(s)

AC022107

Consensus CDS

CCDS3998.1

UniProtKB/Swiss-Prot

A8K3Y1, Q9H3R5

UniProtKB/TrEMBL

A0A0S2Z5T0, B3KVZ3

Related

ENSP00000283006.2, ENST00000283006.7

Conserved Domains (2) summary

pfam05837
Location:126 → 239

CENP-H; Centromere protein H (CENP-H)

cl25731
Location:42 → 208

PRK10246; exonuclease subunit SbcC; Provisional