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Aliases for HTRA1 Gene

Aliases for HTRA1 Gene

  • HtrA Serine Peptidase 1 2 3 5
  • High-Temperature Requirement A Serine Peptidase 1 3 4
  • Protease, Serine, 11 (IGF Binding) 2 3
  • PRSS11 3 4
  • HtrA 3 4
  • L56 3 4
  • Serine Protease 11 4
  • IGFBP5-Protease 3
  • EC 3.4.21.108 63
  • EC 3.4.21.- 4
  • EC 3.4.21 63
  • CADASIL2 3
  • CARASIL 3
  • ORF480 3
  • ARMD7 3

External Ids for HTRA1 Gene

Previous HGNC Symbols for HTRA1 Gene

  • PRSS11

Previous GeneCards Identifiers for HTRA1 Gene

  • GC10P124213
  • GC10P117852
  • GC10P124221

Summaries for HTRA1 Gene

Entrez Gene Summary for HTRA1 Gene

  • 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]

GeneCards Summary for HTRA1 Gene

HTRA1 (HtrA Serine Peptidase 1) is a Protein Coding gene. Diseases associated with HTRA1 include carasil syndrome and macular degeneration, age-related, 7. Among its related pathways are Degradation of the extracellular matrix. GO annotations related to this gene include serine-type endopeptidase activity and insulin-like growth factor binding. An important paralog of this gene is HTRA2.

UniProtKB/Swiss-Prot for HTRA1 Gene

  • Serine protease with a variety of targets, including extracellular matrix proteins such as fibronectin. HTRA1-generated fibronectin fragments further induce synovial cells to up-regulate MMP1 and MMP3 production. May also degrade proteoglycans, such as aggrecan, decorin and fibromodulin. Through cleavage of proteoglycans, may release soluble FGF-glycosaminoglycan complexes that promote the range and intensity of FGF signals in the extracellular space. Regulates the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. Inhibits signaling mediated by TGF-beta family members. This activity requires the integrity of the catalytic site, although it is unclear whether TGF-beta proteins are themselves degraded. By acting on TGF-beta signaling, may regulate many physiological processes, including retinal angiogenesis and neuronal survival and maturation during development. Intracellularly, degrades TSC2, leading to the activation of TSC2 downstream targets.

Gene Wiki entry for HTRA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HTRA1 Gene

Genomics for HTRA1 Gene

Regulatory Elements for HTRA1 Gene

Promoters for HTRA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HTRA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HTRA1 Gene

Chromosome:
10
Start:
122,461,525 bp from pter
End:
122,514,908 bp from pter
Size:
53,384 bases
Orientation:
Plus strand

Genomic View for HTRA1 Gene

Genes around HTRA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HTRA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HTRA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HTRA1 Gene

Proteins for HTRA1 Gene

  • Protein details for HTRA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92743-HTRA1_HUMAN
    Recommended name:
    Serine protease HTRA1
    Protein Accession:
    Q92743
    Secondary Accessions:
    • D3DRE4
    • Q9UNS5

    Protein attributes for HTRA1 Gene

    Size:
    480 amino acids
    Molecular mass:
    51287 Da
    Quaternary structure:
    • Forms homotrimers. In the presence of substrate, may form higher-order multimers in a PDZ-independent manner. Interacts with TGF-beta family members, including BMP4, TGFB1, TGFB2, activin A and GDF5 (By similarity).

    Three dimensional structures from OCA and Proteopedia for HTRA1 Gene

neXtProt entry for HTRA1 Gene

Proteomics data for HTRA1 Gene at MOPED

Selected DME Specific Peptides for HTRA1 Gene

Post-translational modifications for HTRA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HTRA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for HTRA1 Gene

Gene Families for HTRA1 Gene

Suggested Antigen Peptide Sequences for HTRA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92743

UniProtKB/Swiss-Prot:

HTRA1_HUMAN :
  • The IGFBP N-terminal domain mediates interaction with TSC2 substrate.
  • Belongs to the peptidase S1C family.
Domain:
  • The IGFBP N-terminal domain mediates interaction with TSC2 substrate.
  • Contains 1 IGFBP N-terminal domain.
  • Contains 1 Kazal-like domain.
  • Contains 1 PDZ (DHR) domain.
Family:
  • Belongs to the peptidase S1C family.
genes like me logo Genes that share domains with HTRA1: view

Function for HTRA1 Gene

Molecular function for HTRA1 Gene

UniProtKB/Swiss-Prot Function:
Serine protease with a variety of targets, including extracellular matrix proteins such as fibronectin. HTRA1-generated fibronectin fragments further induce synovial cells to up-regulate MMP1 and MMP3 production. May also degrade proteoglycans, such as aggrecan, decorin and fibromodulin. Through cleavage of proteoglycans, may release soluble FGF-glycosaminoglycan complexes that promote the range and intensity of FGF signals in the extracellular space. Regulates the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. Inhibits signaling mediated by TGF-beta family members. This activity requires the integrity of the catalytic site, although it is unclear whether TGF-beta proteins are themselves degraded. By acting on TGF-beta signaling, may regulate many physiological processes, including retinal angiogenesis and neuronal survival and maturation during development. Intracellularly, degrades TSC2, leading to the activation of TSC2 downstream targets.

Enzyme Numbers (IUBMB) for HTRA1 Gene

genes like me logo Genes that share phenotypes with HTRA1: view

Human Phenotype Ontology for HTRA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HTRA1 Gene

MGI Knock Outs for HTRA1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for HTRA1 Gene

Localization for HTRA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HTRA1 Gene

Cell membrane. Secreted. Cytoplasm, cytosol. Note=Predominantly secreted (PubMed:15208355). Also found associated with the plasma membrane (PubMed:21297635). {ECO:0000269 PubMed:15208355, ECO:0000269 PubMed:21297635}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HTRA1 Gene COMPARTMENTS Subcellular localization image for HTRA1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 4
endoplasmic reticulum 2
vacuole 2
chloroplast 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HTRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with HTRA1: view

Pathways & Interactions for HTRA1 Gene

genes like me logo Genes that share pathways with HTRA1: view

Pathways by source for HTRA1 Gene

Gene Ontology (GO) - Biological Process for HTRA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,ISS --
GO:0022617 extracellular matrix disassembly TAS --
GO:0030514 negative regulation of BMP signaling pathway IEA --
genes like me logo Genes that share ontologies with HTRA1: view

No data available for SIGNOR curated interactions for HTRA1 Gene

Drugs & Compounds for HTRA1 Gene

(4) Drugs for HTRA1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bevacizumab Approved, Investigational Pharma VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 1875
Ranibizumab Approved Pharma 460

(3) Additional Compounds for HTRA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HTRA1: view

Transcripts for HTRA1 Gene

mRNA/cDNA for HTRA1 Gene

Unigene Clusters for HTRA1 Gene

HtrA serine peptidase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HTRA1 Gene

No ASD Table

Relevant External Links for HTRA1 Gene

GeneLoc Exon Structure for
HTRA1
ECgene alternative splicing isoforms for
HTRA1

Expression for HTRA1 Gene

mRNA expression in normal human tissues for HTRA1 Gene

Protein differential expression in normal tissues from HIPED for HTRA1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (57.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HTRA1 Gene



SOURCE GeneReport for Unigene cluster for HTRA1 Gene Hs.501280

mRNA Expression by UniProt/SwissProt for HTRA1 Gene

Q92743-HTRA1_HUMAN
Tissue specificity: Widely expressed, with strongest expression in placenta (at protein level). Secreted by synovial fibroblasts. Up-regulated in osteoarthritis and rheumatoid arthritis synovial fluids and cartilage as compared with non-arthritic (at protein level).
genes like me logo Genes that share expression patterns with HTRA1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for HTRA1 Gene

Orthologs for HTRA1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HTRA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HTRA1 35
  • 89.35 (n)
  • 94.78 (a)
HTRA1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Htra1 35
  • 86.33 (n)
  • 93.86 (a)
Htra1 16
Htra1 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Htra1 35
  • 86.43 (n)
  • 93.81 (a)
dog
(Canis familiaris)
Mammalia HTRA1 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HTRA1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 77 (a)
OneToMany
-- 36
  • 97 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia HTRA1 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves HTRA1 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HTRA1 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia htra1 35
  • 68.84 (n)
  • 72.56 (a)
Str.11102 35
zebrafish
(Danio rerio)
Actinopterygii htra1b 35
  • 70.42 (n)
  • 76.13 (a)
htra1a 36
  • 69 (a)
OneToMany
htra1b 36
  • 72 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.841 35
fruit fly
(Drosophila melanogaster)
Insecta HtrA2 36
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NMA111 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToMany
Species with no ortholog for HTRA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HTRA1 Gene

ENSEMBL:
Gene Tree for HTRA1 (if available)
TreeFam:
Gene Tree for HTRA1 (if available)

Paralogs for HTRA1 Gene

Paralogs for HTRA1 Gene

(3) SIMAP similar genes for HTRA1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HTRA1: view

Variants for HTRA1 Gene

Sequence variations from dbSNP and Humsavar for HTRA1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_063148 Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy (CARASIL)
rs113993969 Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy (CARASIL) 122,506,802(+) GGATC(A/G)TGAGC reference, missense
rs15280 -- 122,514,809(+) CGCTG(A/G)CTTCT utr-variant-3-prime
rs763720 -- 122,502,928(-) GGGCA(C/T)GCGAG intron-variant
rs714816 -- 122,496,829(-) ACTCA(C/T)GAGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HTRA1 Gene

Variant ID Type Subtype PubMed ID
nsv825594 CNV Gain 20364138
nsv7580 CNV Loss 18451855
nsv516138 CNV Loss 19592680
nsv8729 CNV Loss 18304495
nsv896063 CNV Gain 21882294
dgv322e1 CNV Complex 17122850
nsv428240 CNV Gain+Loss 18775914

Variation tolerance for HTRA1 Gene

Residual Variation Intolerance Score: 11.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.24; 62.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HTRA1 Gene

HapMap Linkage Disequilibrium report
HTRA1
Human Gene Mutation Database (HGMD)
HTRA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HTRA1 Gene

Disorders for HTRA1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for HTRA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
carasil syndrome
  • carasil
macular degeneration, age-related, 7
  • macular degeneration, age-related, neovascular type
macular degeneration, age-related, 1
  • macular degeneration, age-related, 2
spotted fever
  • spotted fever group rickettsial disease
cat-scratch disease
  • oroya fever
- elite association - COSMIC cancer census association via MalaCards
Search HTRA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HTRA1_HUMAN
  • Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy (CARASIL) [MIM:600142]: A cerebrovascular disease characterized by non-hypertensive arteriopathy of cerebral small vessels with subcortical infarcts, alopecia, and spondylosis. Small cerebral arteries show arteriosclerotic changes, fibrous intimal proliferation, and hyaline degeneration with splitting of the intima and/or the internal elastic membrane. Neurologic features include progressive dementia, gait disturbances, extrapyramidal and pyramidal signs, and demyelination of the cerebral white matter with sparing of U fibers. {ECO:0000269 PubMed:19387015}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Macular degeneration, age-related, 7 (ARMD7) [MIM:610149]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269 PubMed:17053108, ECO:0000269 PubMed:17053109}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for HTRA1

Genetic Association Database (GAD)
HTRA1
Human Genome Epidemiology (HuGE) Navigator
HTRA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HTRA1
genes like me logo Genes that share disorders with HTRA1: view

No data available for Genatlas for HTRA1 Gene

Publications for HTRA1 Gene

  1. Primary structure of a putative serine protease specific for IGF- binding proteins. (PMID: 8977104) Zumbrunn J. … Trueb B. (FEBS Lett. 1996) 2 3 4 23 67
  2. Expression patterns of two serine protease HtrA1 forms in human placentas complicated by preeclampsia with and without intrauterine growth restriction. (PMID: 19056122) Lorenzi T. … Castellucci M. (Placenta 2009) 3 23
  3. Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study. (PMID: 19169232) Farwick A. … Hense H.W. (Eye (Lond) 2009) 3 23
  4. Multilocus analysis of age-related macular degeneration. (PMID: 19259132) Bergeron-Sawitzke J. … Dean M. (Eur. J. Hum. Genet. 2009) 3 23
  5. Association of HTRA1 mutations and familial ischemic cerebral small- vessel disease. (PMID: 19387015) Hara K. … Onodera O. (N. Engl. J. Med. 2009) 3 23

Products for HTRA1 Gene

Sources for HTRA1 Gene

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