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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HTRA1 Gene

protein-coding   GIFtS: 63
GCID: GC10P124221

HtrA Serine Peptidase 1

(Previous names: protease, serine, 11 (IGF binding))
(Previous symbol: PRSS11)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
HtrA Serine Peptidase 11 2     IGFBP5-protease2
PRSS111 2 3 5     ORF4802
Protease, Serine, 11 (IGF Binding)1 2     Serine Protease HTRA12
High-Temperature Requirement A Serine Peptidase 12 3     EC 3.4.21.-3
L562 3     HTRA3
ARMD72 5     Serine Protease 113
CARASIL2     EC 3.4.218
HtrA2     EC 3.4.21.1088

External Ids:    HGNC: 94761   Entrez Gene: 56542   Ensembl: ENSG000001660337   OMIM: 6021945   UniProtKB: Q927433   

Export aliases for HTRA1 gene to outside databases

Previous GC identifers: GC10P124213 GC10P117852


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 cat-scratch disease, and carasil. GO annotations related to this gene include insulin-like growth factor binding and serine-type endopeptidase activity. An important paralog of this gene is HTRA2.

UniProtKB/Swiss-Prot: HTRA1_HUMAN, Q92743
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

Gene Wiki entry for HTRA1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HTRA1 gene promoter:
         HOXA9   HOXA9B   NF-1/L   NF-1   Pax-5   Ik-3   CREB   deltaCREB   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHTRA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HTRA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HTRA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q26.3   Ensembl cytogenetic band:  10q26.13   HGNC cytogenetic band: 10q26.3

HTRA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HTRA1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P124221:  view genomic region     (about GC identifiers)

Start:
124,221,041 bp from pter      End:
124,274,424 bp from pter
Size:
53,384 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HTRA1_HUMAN, Q92743 (See protein sequence)
Recommended Name: Serine protease HTRA1 precursor  
Size: 480 amino acids; 51287 Da
Subunit: 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)
Subcellular location: Secreted. Cytoplasm, cytosol. Note=Predominantly secreted. Also found associated with the
plasma membrane
Developmental stage: In the placenta, in the first trimester of gestation, low expression in the cells surrounding
villi both in the inner layer of the cytotrophoblast and in the outer layer of the syncytiotrophoblast (at
protein level). In the third trimester of gestation, very strong expression in the outer layer forming the
syncytiotrophoblast and lower in the cytotrophoblast (at protein level)
6/8 PDB 3D structures from and Proteopedia for HTRA1 (see all 8):
2JOA (3D)        2YTW (3D)        3NUM (3D)        3NWU (3D)        3NZI (3D)        3TJN (3D)    
Secondary accessions: D3DRE4 Q9UNS5

Explore the universe of human proteins at neXtProt for HTRA1: NX_Q92743

Explore proteomics data for HTRA1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92743

  • 4 DME Specific Peptides for HTRA1 (Q92743)
     GNSGGPL  GFIVSEDG  GEVIGINT  NFIADVVEK 

    HTRA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HTRA1 Protein Expression
    REFSEQ proteins: NP_002766.1  
    ENSEMBL proteins: 
     ENSP00000357980   ENSP00000412676  

    Human Recombinant Protein Products for HTRA1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for HTRA1 (HTRA1/PRSS11)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for HTRA1
    OriGene Protein Over-expression Lysate for HTRA1
    OriGene MassSpec for HTRA1 
    OriGene Custom Protein Services for HTRA1
    GenScript Custom Purified and Recombinant Proteins Services for HTRA1
    Novus Biologicals HTRA1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HTRA1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space TAS9852107
    GO:0005829cytosol IEA--
    GO:0031012colocalizes with extracellular matrix IDA--

    HTRA1 for ontologies           About GeneDecksing



    HTRA1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of HTRA1
    R&D Systems Antibodies for HTRA1 (HTRA1/PRSS11)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for HTRA1
    GenScript Custom Superior Antibodies Services for HTRA1
    Novus Biologicals HTRA1 Antibody
    Abcam antibodies for HTRA1
    Cloud-Clone Corp. Antibodies for HTRA1 
    ThermoFisher Antibodies for HTRA1
    LSBio Antibodies in human, mouse, rat for HTRA1 

    Assay Products for HTRA1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HTRA1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HTRA1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HTRA1 
    Cloud-Clone Corp. CLIAs for HTRA1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PRSS: Serine peptidases / Serine peptidases

    5 InterPro protein domains:
     IPR002350 Kazal_dom
     IPR001940 Peptidase_S1C
     IPR000867 IGFBP-like
     IPR001478 PDZ
     IPR009003 Trypsin-like_Pept_dom

    Graphical View of Domain Structure for InterPro Entry Q92743

    ProtoNet protein and cluster: Q92743

    5 Blocks protein domains:
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature
    IPB001478 PDZ/DHR/GLGF domain
    IPB001940 HtrA/DegQ protease family signature
    IPB011497 Protease inhibitor


    UniProtKB/Swiss-Prot: HTRA1_HUMAN, Q92743
    Domain: The IGFBP N-terminal domain mediates interaction with TSC2 substrate
    Similarity: Belongs to the peptidase S1B family
    Similarity: Contains 1 IGFBP N-terminal domain
    Similarity: Contains 1 Kazal-like domain
    Similarity: Contains 1 PDZ (DHR) domain


    HTRA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HTRA1_HUMAN, Q92743
    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): EC 3.4.212 EC 3.4.21.1082 EC 3.4.21.-1

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0005515protein binding ----
    GO:0005520insulin-like growth factor binding IEA--
    GO:0008236serine-type peptidase activity ISS--
         
    HTRA1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HTRA1:
     Decreased Wnt reporter activit 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Htra1):
     cardiovascular system  vision/eye 

    HTRA1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Htra1tm1Ybf for HTRA1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HTRA1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HTRA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HTRA1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HTRA1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HTRA1
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate HTRA1:
    hsa-miR-633 hsa-miR-588 hsa-miR-19b-1* hsa-miR-19b-2* hsa-miR-19a* hsa-miR-548s hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidHTRA1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HTRA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HTRA1

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of HTRA1

    Clone
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    OriGene clones in human, mouse for HTRA1 (see all 9)
    OriGene ORF clones in mouse, rat for HTRA1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HTRA1 (NM_002775)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HTRA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HTRA1
    Sirion Biotech Customized lentivirus for stable overexpression of HTRA1 
                         Customized lentivirus expression plasmids for stable overexpression of HTRA1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for HTRA1
    LifeMap BioReagents: cell line associated with HTRA1: PureStem ES-210, Ecto-ntu Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HTRA1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HTRA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/23 Interacting proteins for HTRA1 (Q927432, 3 ENSP000003579804) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BMP4P126443, ENSP000002454514I2D: score=3 STRING: ENSP00000245451
    GDF5P430263, ENSP000003634894I2D: score=3 STRING: ENSP00000363489
    COL1A1P024523, ENSP000002259644I2D: score=1 STRING: ENSP00000225964
    COL3A1P024613, ENSP000003044084I2D: score=1 STRING: ENSP00000304408
    COX5AP206743, ENSP000003177804I2D: score=1 STRING: ENSP00000317780
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001558regulation of cell growth IEA--
    GO:0006508proteolysis ISS--
    GO:0030512negative regulation of transforming growth factor beta receptor signaling pathway IEA--
    GO:0030514negative regulation of BMP signaling pathway IEA--

    HTRA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HTRA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HTRA1

    5 Novoseek inferred chemical compound relationships for HTRA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 70.9 49 9180686 (2), 19387015 (2), 18164066 (2), 15568990 (1) (see all 29)
    alanine 3.27 3 18946507 (1)
    oligonucleotide 0 1 8100240 (1)
    agar 0 1 17220310 (1)
    h2o2 0 2 15933023 (1), 15664909 (1)

    Search CenterWatch for drugs/clinical trials and news about HTRA1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HTRA1 gene: 
    NM_002775.4  

    Unigene Cluster for HTRA1:

    HtrA serine peptidase 1
    Hs.501280  [show with all ESTs]
    Unigene Representative Sequence: NM_002775
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368984(uc001lgj.2) ENST00000420892
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HTRA1
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate HTRA1:
    hsa-miR-633 hsa-miR-588 hsa-miR-19b-1* hsa-miR-19b-2* hsa-miR-19a* hsa-miR-548s hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidHTRA1 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene RNAi products in human, mouse, rat for HTRA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HTRA1
    Clone
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    GenScript: all cDNA clones in your preferred vector: HTRA1 (NM_002775)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HTRA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HTRA1
    Sirion Biotech Customized lentivirus for stable overexpression of HTRA1 
                         Customized lentivirus expression plasmids for stable overexpression of HTRA1 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HTRA1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HTRA1

    Additional mRNA sequence: 

    AF070555.1 AF097709.1 AK091944.1 AK092476.1 AK290089.1 BC011352.1 BC031082.1 D87258.1 
    Y07921.1 

    12 DOTS entries:

    DT.449125  DT.100657674  DT.91862966  DT.95110641  DT.100676967  DT.100857526  DT.121292769  DT.100657676 
    DT.100850411  DT.121292759  DT.121292767  DT.121292796 

    24/499 AceView cDNA sequences (see all 499):

    AA476373 BM920867 AA908304 T36243 BM754976 CR596858 CR593682 AI245562 
    F04728 BC011352 BQ183799 BX339704 BM708131 AA349615 BI492761 W80580 
    NM_002775 CR624458 BF726628 CD242884 AI799431 CR603877 BU736262 CR597732 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HTRA1 expression in normal human tissues (normalized intensities)      HTRA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTCCCTCAA
    HTRA1 Expression
    About this image


    HTRA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/45 selected tissues (see all 45) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 6 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod
     
     Uterus (Reproductive System)    fully expand to see all 6 entries
             uterus, post-menopause ; glandular cells   
             Uterus Corpus   
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod Long Bone
             skeleton/pectoral girdle and thoracic body wall/scapula   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   

    See HTRA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HTRA1

    SOURCE GeneReport for Unigene cluster: Hs.501280

    UniProtKB/Swiss-Prot: HTRA1_HUMAN, Q92743
    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)

        SABiosciences Custom PCR Arrays for HTRA1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HTRA1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HTRA1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for HTRA1 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Htra11 , 5 HtrA serine peptidase 11, 5 85.56(n)1
    92.29(a)1
      7 (73.20 cM)5
    562131  NM_019564.31  NP_062510.21 
     1309361115 
    chicken
    (Gallus gallus)
    Aves HTRA11 HtrA serine peptidase 1 78.05(n)
    87.5(a)
      100857572  XM_003641501.1  XP_003641549.1 
    lizard
    (Anolis carolinensis)
    Reptilia HTRA16
    Uncharacterized protein
    78(a)
    1 ↔ 1
    3(63888646-63945084)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.111022 Transcribed sequence with moderate similarity to protein more 74.15(n)    BX690853.1 
    zebrafish
    (Danio rerio)
    Actinopterygii htra1b1 HtrA serine peptidase 1b 70.42(n)
    76.13(a)
      565082  NM_001111182.1  NP_001104652.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta HtrA26
    HtrA2
    37(a)
    1 → many
    3R(10334771-10337434)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NMA111(YNL123W)4 Serine protease and general molecular chaperone; involved more   --   14(394685-397678) 855600  NP_014276.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HTRA1 gene
    HTRA22  HTRA42  HTRA32  
    3 SIMAP similar genes for HTRA1 using alignment to 3 protein entries:     HTRA1_HUMAN (see all proteins):
    HTRA2    HTRA3    HTRA4

    HTRA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1261 SNPs in HTRA1 are shown (see all 1261)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1139939681,2,4
    CCerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal recessive (CARASIL)4 pathogenic1124607924(+) ACATCA/GCACTC 2 T A mis10--------
    rs1139939691,2,4
    CCerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal recessive (CARASIL)4 pathogenic1124625123(+) GGATCA/GTGAGC 2 M V mis10--------
    rs22938701,2
    C,Fnon-pathogenic1119411361(+) GCCGGC/G/TTGCCC 3 G syn1 ese32NA 4
    rs10493311,2
    C,Fnon-pathogenic1119411367(+) TTGGCC/TGCCGG 2 A syn1 ese32Minor allele frequency- T:0.25NA 4
    rs1139939701,2
    Cpathogenic1124625138(+) CCCAGC/TGAGGC 2 R * stg10--------
    rs1139939711,2
    Cpathogenic1124627079(+) ATGACC/TGACAG 2 R * stg10--------
    rs176240211,2
    C,F,Huntested1124607923(+) GACATC/TGCACT 2 I syn112Minor allele frequency- T:0.04NA NS EA WA EU 6738
    rs1900360211,2
    --117851974(+) GTCCCA/GGGCCG 2 Q R mis10--------
    rs1388678641,2
    C--117853601(+) GCAGT-/AGAGAGT 1 -- int10--------
    rs1413365151,2
    C--117867207(+) TTTTT-/T/TT  
            
    GAGAT
    1 -- int10--------

    HapMap Linkage Disequilibrium report for HTRA1 (124221041 - 124274424 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for HTRA1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv516138CNV Loss19592680
    nsv8729CNV Loss18304495
    nsv7580CNV Loss18451855
    nsv896063CNV Gain21882294
    nsv825594CNV Gain20364138
    nsv428240CNV Gain+Loss18775914
    dgv322e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): HTRA1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HTRA1
    DNA2.0 Custom Variant and Variant Library Synthesis for HTRA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602194   
    OMIM disorders: 610149  
    UniProtKB/Swiss-Prot: HTRA1_HUMAN, Q92743
  • Age-related macular degeneration 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal recessive (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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20/49 diseases for HTRA1 (see all 49):    About MalaCards
    cat-scratch disease    carasil    age-related macular degeneration 7    cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
    post-vaccinal encephalitis    spotted fever    endemic typhus    macular degeneration
    age related macular degeneration    multifocal choroiditis    spondylosis    klebsiella
    brucellosis    tuberous sclerosis complex    typhoid fever    choroiditis
    typhus    pilocytic astrocytoma    otitis media    arteriosclerosis

    5 diseases from the University of Copenhagen DISEASES database for HTRA1:
    Age related macular degeneration     Kuhnt-Junius degeneration     Typhoid fever     cat-scratch disease
    Blindness

    HTRA1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for HTRA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spotted fevers 65.1 1 17768597 (1)
    shock 35.8 7 9180686 (2), 15297484 (1), 10995577 (1), 10319814 (1) (see all 6)
    tumors 0 5 20231149 (1), 16650464 (1), 17094466 (1), 19424634 (1)
    cancer 0 6 19424634 (3), 16650464 (1), 17094466 (1)

    Genetic Association Database (GAD): HTRA1
    Human Genome Epidemiology (HuGE) Navigator: HTRA1 (77 documents)

    Export disorders for HTRA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HTRA1 gene, integrated from 9 sources (see all 231):
    (articles sorted by number of sources associating them with HTRA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Primary structure of a putative serine protease specific for IGF- binding proteins. (PubMed id 8977104)1, 2, 3, 9 Zumbrunn J. and Trueb B. (1996)
    2. HTRA1 promoter polymorphism in wet age-related macular degeneration. (PubMed id 17053108)1, 2, 4 DeWan A.... Hoh J. (2006)
    3. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. (PubMed id 17053109)1, 2, 4 Yang Z....Zhang K. (2006)
    4. Joint effects of polymorphisms in the HTRA1, LOC387715/ARMS2, and CFH genes on AMD in a Caucasian population. (PubMed id 18682806)1, 4, 9 Francis P.J....Klein M.L. (2008)
    5. Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. (PubMed id 19387015)1, 2, 9 Hara K....Onodera O. (2009)
    6. Human HtrA, an evolutionarily conserved serine protease identified as a differentially expressed gene product in osteoarthritic cartilage. (PubMed id 9852107)1, 2, 9 Hu S.I.... Crowl R.M. (1998)
    7. Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population. (PubMed id 19187590)1, 4, 9 Chu J....Dong F.T. (2008)
    8. Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. (PubMed id 18164066)1, 4, 9 Deangelis M.M....Kim I.K. (2008)
    9. PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population. (PubMed id 18079691)1, 4, 9 Leveziel N....Benlian P. (2007)
    10. Three SNPs in the GSTO1, GSTO2 and PRSS11 genes on chromosome 10 are not associated with age-at-onset of Alzheimer's disease. (PubMed id 15917099)1, 4, 9 Ozturk A....Kamboh M.I. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5654 HGNC: 9476 AceView: PRSS11 Ensembl:ENSG00000166033 euGenes: HUgn5654
    ECgene: HTRA1 H-InvDB: HTRA1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HTRA1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HTRA1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HTRA1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HTRA1 gene:
    Search GeneIP for patents involving HTRA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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     Proteins for HTRA1
     Antibodies for HTRA1
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     Cell Line associated with HTRA1: PureStem ES-210, Ecto-ntu Progenitor
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     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HTRA1
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     SwitchGear Promoter luciferase reporter plasmids for HTRA1
     ThermoFisher Antibodies for HTRA1
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