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

Gene ID: 5654, updated on 22-May-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
107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC105378527 Neighboring gene age-related maculopathy susceptibility 2 Neighboring gene uncharacterized LOC105378526 Neighboring gene uncharacterized LOC105378528 Neighboring gene deleted in malignant brain tumors 1 Neighboring gene uncharacterized LOC101928125

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 
colocalizes_with extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
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
    COG0265
    Location:154480
    DegQ; Periplasmic serine protease, S1-C subfamily, contain C-terminal PDZ domain [Posttranslational modification, protein turnover, chaperones]
    cd00104
    Location:114155
    KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...
    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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p2 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)