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

    Gene ID: 8479, updated on 2-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
    mouse all
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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 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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    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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    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.

    Chemical Information
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