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    HTRA2 HtrA serine peptidase 2 [ Homo sapiens ]

    Gene ID: 27429, updated on 11-May-2012

    Summary

    Official Symbol
    HTRA2provided by HGNC
    Official Full Name
    HtrA serine peptidase 2provided by HGNC
    Primary source
    HGNC:14348
    See related
    Ensembl:ENSG00000115317; HPRD:05919; MIM:606441; Vega:OTTHUMG00000129957
    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
    OMI; PARK13; PRSS25
    Summary
    This gene encodes a serine protease. The protein has been localized in the endoplasmic reticulum and interacts with an alternatively spliced form of mitogen-activated protein kinase 14. The protein has also been localized to the mitochondria with release to the cytosol following apoptotic stimulus. The protein is thought to induce apoptosis by binding the apoptosis inhibitory protein baculoviral IAP repeat-containing 4. Nuclear localization of this protein has also been observed. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional transcript variants have been described, but their full-length sequences have not been determined. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    2p12
    Sequence :
    Chromosome: 2; NC_000002.11 (74756532..74760683)
    See HTRA2 in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene T-cell leukemia homeobox 2 Neighboring gene DEAQ box RNA-dependent ATPase 1 Neighboring gene ancient ubiquitous protein 1 Neighboring gene lysyl oxidase-like 3 Neighboring gene docking protein 1, 62kDa (downstream of tyrosine kinase 1) Neighboring gene chromosome 2 open reading frame 65 Neighboring gene torsin family 1, member B (torsin B) pseudogene

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_037379.1 NP_958816.1 APP    BIND  PubMed HtrA2 interacts with APP. 
    NP_037379.1 NP_057336.1 BIRC6    BIND  PubMed Apollon interacts with HtrA2. 
    NP_037379.1 NP_057336.1 BIRC6    BIND  PubMed BRUCE interacts with HtrA2. 
    NP_037379.1 NP_001158.2 XIAP    BIND  PubMed XIAP interacts with HtrA2. 
    O43464 P05067 APP    HPRD  PubMed  
    O43464 Q13490 BIRC2    HPRD  PubMed  
    O43464 Q13489 BIRC3    HPRD  PubMed  
    O43464 Q9NR09 BIRC6    HPRD  PubMed  
    O43464 Q96CA5 BIRC7    HPRD  PubMed  
    O43464 P47710 CSN1S1    HPRD  PubMed  
    O43464 P05814 CSN2    HPRD  PubMed  
    O43464 Q9NR28 DIABLO    HPRD  PubMed  
    O43464 Q16539 MAPK14    HPRD  PubMed  
    O43464 Q9NWQ8 PAG1    HPRD  PubMed  
    O43464 Q15121 PEA15    HPRD  PubMed  
    O43464 Q93009 USP7    HPRD  PubMed  
    O43464 P98170 XIAP    HPRD  PubMed  
    BioGRID:118165 BioGRID:106826 BIRC2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:118165 BioGRID:106827 BIRC3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:118165 BioGRID:121521 BIRC6    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:118165 BioGRID:107819 MAPK14    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:118165 BioGRID:111105 PARK2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:118165 BioGRID:113038 TRAF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:118165 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:118165 BioGRID:106828 XIAP    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Parkinson's disease, organism-specific biosystem (from KEGG)
      Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic neurons in the substantia nigra. Mutations in alpha-synuclein, UCHL...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    serine-type peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    serine-type peptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    unfolded protein binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    adult walking behavior IEA
    Inferred from Electronic Annotation
    more info
     
    cell cycle arrest TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to growth factor stimulus IMP
    Inferred from Mutant Phenotype
    more info
     
    cleavage of cytoskeletal proteins involved in apoptosis TAS
    Traceable Author Statement
    more info
    PubMed 
    execution phase of apoptosis TAS
    Traceable Author Statement
    more info
    PubMed 
    forebrain development IEA
    Inferred from Electronic Annotation
    more info
     
    induction of apoptosis by intracellular signals IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion organization IEA
    Inferred from Electronic Annotation
    more info
     
    neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
     
    positive regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
     
    proteolysis TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    response to stress TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    CD40 receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum NAS
    Non-traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    internal side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    serine protease HTRA2, mitochondrial
    Names
    serine protease HTRA2, mitochondrial
    serine protease 25
    protease, serine, 25
    serine proteinase OMI
    HtrA-like serine protease
    Omi stress-regulated endoprotease
    high temperature requirement protein A2
    NP_037379.1
    NP_659540.1

    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.

    Genomic

    1. NG_012163.1 RefSeqGene

      Range
      5001..9152
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_013247.4NP_037379.1  serine protease HTRA2, mitochondrial isoform 1 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF141305, BF939362
      Consensus CDS
      CCDS1951.1
      UniProtKB/Swiss-Prot
      O43464
      Related
      ENSP00000258080, OTTHUMP00000160415, ENST00000258080, OTTHUMT00000252219
      Conserved Domains (2) summary
      cd00987
      Location:360452
      Blast Score: 171
      PDZ_serine_protease; PDZ domain of tryspin-like serine proteases, such as DegP/HtrA, which are oligomeric proteins involved in heat-shock response, chaperone function, and apoptosis. May be responsible for substrate recognition and/or binding, as most PDZ domains bind ...
      cl00149
      Location:182320
      Blast Score: 216
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    2. NM_145074.2NP_659540.1  serine protease HTRA2, mitochondrial isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two in-frame exons in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1 and has a modified PDZ domain. Isoform 2 has no detectable protease activity.
      Source sequence(s)
      AF141305, AF184911, BF939362
      Consensus CDS
      CCDS1952.1
      UniProtKB/Swiss-Prot
      O43464
      Related
      ENSP00000312893, OTTHUMP00000160416, ENST00000352222, OTTHUMT00000252220
      Conserved Domains (2) summary
      cd00989
      Location:307357
      Blast Score: 113
      PDZ_metalloprotease; PDZ domain of bacterial and plant zinc metalloprotases, presumably membrane-associated or integral membrane proteases, which may be involved in signalling and regulatory mechanisms. May be responsible for substrate recognition and/or binding, as most PDZ ...
      cl00149
      Location:182296
      Blast Score: 116
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p5 Primary Assembly

      Range
      74756532..74760683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      74492793..74496944
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC005041.2 (1743..5894) None
    genomic CH471053.2 EAW99617.1
      EAW99618.1
      EAW99619.1
      EAW99620.1
      EAW99621.1
    mRNA AF020760.2 AAB94569.2
    mRNA AF141305.1 AAF66596.1
    mRNA AF141306.1 AAF66597.1
    mRNA AF141307.1 AAF66598.1
    mRNA AF184911.1 AAG13126.1
    mRNA AK225932.1 None
    mRNA AK291977.1 BAF84666.1
    mRNA AK310163.1 None
    mRNA BC000096.2 AAH00096.1
    mRNA BF939362.1 None
    other-genetic DQ891822.2 ABM82748.1
    other-genetic DQ895009.2 ABM85935.1
    other-genetic EU176308.1 ABW03759.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43464.2 GenPept UniProtKB/Swiss-Prot:O43464

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