CENPH - centromere protein H Gene

Homo sapiens

Gene ID: 64946 | Gene type: protein coding

About CENPH

Cytogenetic location: 5q13.2 Genomic coordinates (GRCh38): 5:69,189,583-69,210,357 (from NCBI)

This gene has 6 transcripts (splice variants) and 170 orthologues. Broad expression in testis (RPKM 14.9), bone marrow (RPKM 9.5) and 20 other tissues.

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]

CENPH Products(1)

mRNA	Protein	Name
NM_022909.4	NP_075060.1	centromere protein H

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables kinetochore binding	IDA IDA: Inferred from direct assay	11092768	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11092768	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of inner kinetochore	IPI IPI: Inferred from physical interaction	36085283	GOA
located in kinetochore	IDA IDA: Inferred from direct assay	11092768	GOA
located in kinetochore	IMP IMP: Inferred from mutant phenotype	20212317	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11092768	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CENPH Protein Structure

CENP-H

0
100
200
247 a.a.

Protein Preferred Names

Protein Names

centromere protein H

CENP-H

Related Diseases

Diseases

Alias

Chromosome 17p13.3, Centromeric, Duplication Syndrome

Chromosome 17p13.3 Duplication Syndrome	17p13.3 Duplication Syndrome
17p13.3 Microduplication Syndrome	Trisomy 17p13.3
Chromosome 17p13.3 Centromeric Duplication Syndrome	Dup(17)(P13.3)

Crest Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02480	CENPH Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CENPH	MGD	MGI:1349448
Canis familiaris	CENPH	VGNC	VGNC:39104
Bos taurus	CENPH	VGNC	VGNC:27177
Rattus norvegicus	CENPH	RGD	RGD:1583506
Macaca mulatta	CENPH	VGNC	VGNC:70964

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