1. Gene
  2. CENPH - centromere protein H Gene

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

CENPH Protein Structure

CENP-H

CENP-H: Centromere protein H (CENP-H) (136 - 241)

  • 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

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