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HIRIP3 HIRA interacting protein 3 [ Homo sapiens (human) ]

Gene ID: 8479, updated on 27-Nov-2024

Summary

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Official Symbol
HIRIP3provided by HGNC
Official Full Name
HIRA interacting protein 3provided by HGNC
Primary source
HGNC:HGNC:4917
See related
Ensembl:ENSG00000149929 MIM:603365; AllianceGenome:HGNC:4917
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
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]
Expression
Broad expression in testis (RPKM 18.6), brain (RPKM 7.1) and 24 other tissues See more
Orthologs
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Genomic context

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See HIRIP3 in Genome Data Viewer
Location:
16p11.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (29992321..29996096, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30274959..30278736, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30003642..30007417, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7345 Neighboring gene transmembrane protein 219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7346 Neighboring gene uncharacterized LOC124903762 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29985672-29986443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29987081-29987582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29987583-29988082 Neighboring gene TAO kinase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30002153-30002740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30004428-30004928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30004929-30005429 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10687 Neighboring gene INO80 complex subunit E Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30015046-30015830 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7347 Neighboring gene double C2 domain alpha Neighboring gene chromosome 16 open reading frame 92 Neighboring gene TLC domain containing 3B

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Identification and Characterization of HIRIP3 as a Histone H2A Chaperone. Ignatyeva M, et al. Cells, 2024 Feb 1. PMID 38334665, Free PMC Article
  2. HIRIP3 is a nuclear phosphoprotein interacting with and phosphorylated by the serine-threonine kinase CK2. Assrir N, et al. Biol Chem, 2007 Apr. PMID 17391060
  3. Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA. Lorain S, et al. Mol Cell Biol, 1998 Sep. PMID 9710638, Free PMC Article
  4. Association and mutation analyses of 16p11.2 autism candidate genes. Kumar RA, et al. PLoS One, 2009. PMID 19242545, Free PMC Article
  5. [IMAGE: molecular integration of the analysis of the human genome and its expression]. Auffray C, et al. C R Acad Sci III, 1995 Feb. PMID 7757816

See all (54) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification and Characterization of HIRIP3 as a Histone H2A Chaperone.
    Title: Identification and Characterization of HIRIP3 as a Histone H2A Chaperone.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association and mutation analyses of 16p11.2 autism candidate genes.
  3. HIRIP3 can be phosphorylated in vitro by a recombinant form of the serine-threonine kinase CK2. Moreover, HIRIP3 protein was found to co-purify with a CK2 activity.
    Title: HIRIP3 is a nuclear phosphoprotein interacting with and phosphorylated by the serine-threonine kinase CK2.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables H2A-H2B histone complex chaperone activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables H2A-H2B histone complex chaperone activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in chromatin organization IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
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 

General protein information

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Preferred Names
HIRA-interacting protein 3

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)

  1. NM_001197323.1 → NP_001184252.1  HIRA-interacting protein 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, resulting in frame-shift, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC000588, BE207110, BM673568, BU629222, BX101682, DA716463, Z25386
    Consensus CDS
    CCDS58449.1
    UniProtKB/Swiss-Prot
    Q9BW71
    Related
    ENSP00000456824.1, ENST00000564026.1

  2. NM_003609.5 → NP_003600.2  HIRA-interacting protein 3 isoform 1

    See identical proteins and their annotated locations for NP_003600.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC000588, BU629222, BX101682, Z25386
    Consensus CDS
    CCDS10664.1
    UniProtKB/Swiss-Prot
    H3BSR3, O75707, O75708, Q9BW71
    UniProtKB/TrEMBL
    B2R6A9
    Related
    ENSP00000279392.3, ENST00000279392.8
    Conserved Domains (1) summary
    smart01082
    Location:484 → 520
    CHZ; Histone chaperone domain CHZ

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    29992321..29996096 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    30274959..30278736 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BW71.3 GenPept UniProtKB/Swiss-Prot:Q9BW71

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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