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

Gene ID: 8739, updated on 15-Jun-2019

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
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

Genomic context

See HRK in Genome Data Viewer
Location:
12q24.22
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (116856144..116881427, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (117298225..117319232, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ring finger protein, transmembrane 2 Neighboring gene ribosomal protein L21 pseudogene 105 Neighboring gene RNA, U6 small nuclear 558, pseudogene 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
  • 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

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • ATF-2 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    ATF-2 transcription factor network, organism-specific biosystem
    ATF-2 transcription factor network
  • Apoptosis, organism-specific biosystem (from KEGG)
    Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis, organism-specific biosystem (from WikiPathways)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Apoptosis, conserved biosystem (from KEGG)
    Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
    Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37411

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of release of cytochrome c from mitochondria IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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_073189.2 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017020146.1XP_016875635.1  activator of apoptosis harakiri isoform X1

    UniProtKB/Swiss-Prot
    O00198
    Conserved Domains (1) summary
    pfam15196
    Location:191
    Harakiri; Activator of apoptosis harakiri
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