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    HTRA1 HtrA serine peptidase 1 [ Homo sapiens (human) ]

    Gene ID: 5654, updated on 23-Aug-2016
    Official Symbol
    HTRA1provided by HGNC
    Official Full Name
    HtrA serine peptidase 1provided by HGNC
    Primary source
    HGNC:HGNC:9476
    See related
    Ensembl:ENSG00000166033 HPRD:03725; MIM:602194; Vega:OTTHUMG00000019186
    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
    L56; HtrA; ARMD7; ORF480; PRSS11; CARASIL; CADASIL2
    Summary
    This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    10q26.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (122461525..122514908)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (124221041..124274424)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing A1 Neighboring gene uncharacterized LOC105378524 Neighboring gene uncharacterized LOC105378525 Neighboring gene age-related maculopathy susceptibility 2 Neighboring gene uncharacterized LOC105378526 Neighboring gene deleted in malignant brain tumors 1 Neighboring gene chromosome 10 open reading frame 120

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
    NHGRI GWA Catalog
    Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
    NHGRI GWA Catalog
    Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
    NHGRI GWA Catalog
    Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
    NHGRI GWA Catalog
    Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
    NHGRI GWA Catalog
    Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
    NHGRI GWA Catalog
    Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
    NHGRI GWA Catalog
    HTRA1 promoter polymorphism in wet age-related macular degeneration.
    NHGRI GWA Catalog
    Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
    NHGRI GWA Catalog
    Seven new loci associated with age-related macular degeneration.
    NHGRI GWA Catalog
    • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
      Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    insulin-like growth factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    serine-type endopeptidase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    serine-type peptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    chorionic trophoblast cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    dentinogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
     
    negative regulation of BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of defense response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    serine protease HTRA1
    Names
    IGFBP5-protease
    high-temperature requirement A serine peptidase 1
    protease, serine, 11 (IGF binding)
    NP_002766.1

    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_011554.1 RefSeqGene

      Range
      5001..58384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002775.4NP_002766.1  serine protease HTRA1 precursor

      See identical proteins and their annotated locations for NP_002766.1

      Status: REVIEWED

      Source sequence(s)
      BM993893, DA633502, Y07921
      Consensus CDS
      CCDS7630.1
      UniProtKB/Swiss-Prot
      Q92743
      Related
      ENSP00000357980, OTTHUMP00000063514, ENST00000368984, OTTHUMT00000128327
      Conserved Domains (5) summary
      smart00121
      Location:35111
      IB; Insulin growth factor-binding protein homologues
      smart00280
      Location:115155
      KAZAL; Kazal type serine protease inhibitors
      COG0265
      Location:154480
      DegQ; Periplasmic serine protease, S1-C subfamily, contain C-terminal PDZ domain [Posttranslational modification, protein turnover, chaperones]
      cd00987
      Location:382473
      PDZ_serine_protease; PDZ domain of trypsin-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 ...
      pfam13365
      Location:204342
      Trypsin_2; Trypsin-like peptidase domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      122461525..122514908
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      124505637..124559026
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)