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

    Gene ID: 5654, updated on 27-Nov-2024

    Summary

    Official Symbol
    HTRA1provided by HGNC
    Official Full Name
    HtrA serine peptidase 1provided by HGNC
    Primary source
    HGNC:HGNC:9476
    See related
    Ensembl:ENSG00000166033 MIM:602194; AllianceGenome:HGNC:9476
    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]
    Expression
    Broad expression in ovary (RPKM 155.6), gall bladder (RPKM 130.0) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HTRA1 in Genome Data Viewer
    Location:
    10q26.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (122461553..122514907)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (123357406..123410753)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (124221069..124274423)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing A1 Neighboring gene microRNA 3941 Neighboring gene HTRA1 and ARMS2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124233495-124234018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124234019-124234540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124235637-124236362 Neighboring gene age-related maculopathy susceptibility 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:124253973-124255172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124264199-124264698 Neighboring gene deleted in malignant brain tumors 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:124398858-124400057 Neighboring gene Sharpr-MPRA regulatory region 5374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124424211-124424711 Neighboring gene spermadhesin family member

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
    EBI GWAS Catalog
    Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
    EBI GWAS Catalog
    Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
    EBI GWAS Catalog
    Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
    EBI GWAS Catalog
    Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
    EBI GWAS Catalog
    Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
    EBI GWAS Catalog
    Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
    EBI GWAS Catalog
    HTRA1 promoter polymorphism in wet age-related macular degeneration.
    EBI GWAS Catalog
    Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
    EBI GWAS Catalog
    Seven new loci associated with age-related macular degeneration.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables growth factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables molecular function activator activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables serine-type peptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in chorionic trophoblast cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in programmed cell death IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    serine protease HTRA1
    Names
    IGFBP5-protease
    high-temperature requirement A serine peptidase 1
    protease, serine, 11 (IGF binding)
    NP_002766.1

    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.

    Genomic

    1. NG_011554.1 RefSeqGene

      Range
      5029..58383
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002775.5NP_002766.1  serine protease HTRA1 precursor

      See identical proteins and their annotated locations for NP_002766.1

      Status: REVIEWED

      Source sequence(s)
      DA633502, Y07921
      Consensus CDS
      CCDS7630.1
      UniProtKB/Swiss-Prot
      D3DRE4, Q92743, Q9UNS5
      Related
      ENSP00000357980.3, ENST00000368984.8
      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: 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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      122461553..122514907
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      123357406..123410753
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)