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    HRK harakiri, BCL2 interacting protein [ Homo sapiens (human) ]

    Gene ID: 8739, updated on 28-Oct-2024

    Summary

    Official Symbol
    HRKprovided by HGNC
    Official Full Name
    harakiri, BCL2 interacting proteinprovided by HGNC
    Primary source
    HGNC:HGNC:5185
    See related
    Ensembl:ENSG00000135116 MIM:603447; AllianceGenome:HGNC:5185
    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
    Also known as
    DP5; HARAKIRI
    Summary
    This gene encodes a member of the BCL-2 protein family. Members of this family are involved in activating or inhibiting apoptosis. The encoded protein localizes to intracellular membranes. This protein promotes apoptosis by interacting with the apoptotic inhibitors BCL-2 and BCL-X(L) via its BH3 domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
    Expression
    Biased expression in brain (RPKM 5.1), thyroid (RPKM 2.9) and 3 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See HRK in Genome Data Viewer
    Location:
    12q24.22
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (116856144..116881441, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (116837255..116862509, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (117293949..117319246, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:117197536-117198735 Neighboring gene ring finger protein, transmembrane 2 Neighboring gene ribosomal protein L21 pseudogene 105 Neighboring gene RNA, U6 small nuclear 558, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4906 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:117276582-117276778 Neighboring gene Sharpr-MPRA regulatory region 3661 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:117311807-117312016 Neighboring gene MPRA-validated peak1984 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:117319439-117320400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4909 Neighboring gene ribosomal protein L36 pseudogene 15 Neighboring gene F-box and WD repeat domain containing 8 Neighboring gene uncharacterized LOC100506551

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Common variants at 12q14 and 12q24 are associated with hippocampal volume.
    EBI GWAS Catalog
    Genome-wide association analysis of age-at-onset in Alzheimer's disease.
    EBI GWAS Catalog
    Identification of common variants associated with human hippocampal and intracranial volumes.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ37411

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    activator of apoptosis harakiri
    Names
    BH3-interacting domain-containing protein 3
    activator of apoptosis Hrk
    death protein 5
    harakiri, BCL2 interacting protein (contains only BH3 domain)
    neuronal death protein DP5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_003806.4NP_003797.1  activator of apoptosis harakiri

      See identical proteins and their annotated locations for NP_003797.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AC083806, AK094730, BU623308, D83699, U76376
      Consensus CDS
      CCDS9181.1
      UniProtKB/Swiss-Prot
      O00198
      Related
      ENSP00000257572.4, ENST00000257572.5
      Conserved Domains (1) summary
      pfam15196
      Location:191
      Harakiri; Activator of apoptosis harakiri

    RNA

    1. NR_073189.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains three alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC083806, AK094730, BE674890, BU623308, D83699

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      116856144..116881441 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      116837255..116862509 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)