Histone Cell Cycle Regulator

Alternative Names

  • HIRA
  • Histone Cell Cycle Regulation Defective, S. Cerevisiae, Homolog Of, A
  • HIR, S. Cerevisiae, Homolog Of, A
  • Tup-Like Enhancer Of Split 1
  • Tuple1
  • Digeorge Syndrome Critical Region Gene 1
  • DGCR1
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OMIM Number

600237

NCBI Gene ID

7290

Uniprot ID

P54198

Length

101,036 bases

No. of Exons

25

No. of isoforms

2

Protein Name

Protein HIRA

Molecular Mass

111835 Da

Amino Acid Count

1017

Genomic Location

chr22:19,330,698-19,431,733

Gene Map Locus
22q11.21

Description

The HIRA gene encodes a histone chaperone that has transcription factor activity and is required for the periodic repression of histone gene transcription during the cell cycle.  The HIRA protein is involved in DNA replication-independent nucleosome assembly, the regulation of chromatin silencing, and the formation of senescence-associated heterochromatin foci.  By carrying out its function, the HIRA protein is believed to be involved in the biological processes of gastrulation, differentiation of muscle cells and osteoblasts, and anatomical structure morphogenesis.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003325.4:c.41A>GSaudi ArabiaNC_000022.11:g.19410775T>CPathogenicIntellectual Deficiency, UnclassifiedNG_009231.2:g.25922A>G; NM_003325.4:c.41A>G; NP_003316.3:p.Lys14Arg
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