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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
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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)

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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)