HIRIP3

Chr 16

HIRA interacting protein 3

NCBI Gene: 8479 ENSG00000149929 UniProt: Q9BW71 OMIM: 603365

HIRIP3 encodes a histone chaperone that facilitates the deposition of H2A-H2B histone complexes onto chromatin and functions as part of a multiprotein complex involved in chromatin and histone metabolism. Mutations in HIRIP3 cause neurodevelopmental disorder with seizures, hypotonia, and delayed development, which follows an autosomal recessive inheritance pattern. This chromatin remodeling disorder typically presents in early infancy with developmental delays and neurological manifestations.

OMIM ResearchSummary from RefSeq, UniProt

The HIRA protein shares sequence similarity with Hir1p and Hir2p, the two corepressors of histone gene transcription characterized in the yeast, Saccharomyces cerevisiae. The structural features of the HIRA protein suggest that it may function as part of a multiprotein complex. Several cDNAs encoding HIRA-interacting proteins, or HIRIPs, have been identified. In vitro, the protein encoded by this gene binds HIRA, as well as H2B and H3 core histones, indicating that a complex containing HIRA-HIRIP3 could function in some aspects of chromatin and histone metabolism. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Aug 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.87

LOEUF

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Mechanism