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

HTRA1 Gene

protein-coding   GIFtS: 64
GCID: GC10P124221

HtrA serine peptidase 1

(Previous names: protease, serine, 11 (IGF binding) )
(Previous symbol: PRSS11)
 Explore 52 diseases affiliated with
HTRA1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HTRA1    

Aliases
for HTRA1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
HtrA Serine Peptidase 11 2     CARASIL2
PRSS111 2 3 5     ORF4802
ARMD71 2 5     Serine Protease HTRA12
HtrA1 2     EC 3.4.21.-3
IGFBP5-Protease1     HTRA3
Protease, Serine, 11 (IGF Binding)1 2     Serine Protease 113
High-Temperature Requirement A Serine Peptidase 12 3     EC 3.4.218
L562 3     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


Summaries
for HTRA1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  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 plasmid: HTRA1 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

Proteins
for HTRA1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92743

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

    HTRA1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002766.1  
    ENSEMBL proteins: 
     ENSP00000357980   ENSP00000412676  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: HTRA1
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    Novus Biologicals HTRA1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for HTRA1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    HTRA1 for ontologies           About GeneDecksing



    HTRA1 Antibody Products: 
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    Uscn ELISAs and CLIAs for HTRA1

    Protein Domains /
    Families
    for HTRA1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HTRA1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR002350 Prot_inh_Kazal
     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 families:
    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


    Function
    for HTRA1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    Enzyme Numbers (IUBMB): EC 3.4.212 EC 3.4.21.1082 EC 3.4.21.-1

    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 plasmid: HTRA1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: HTRA1
    OriGene siRNA: HTRA1
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    Gene Editing
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    Clone
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    Cell Line
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    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

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

    GO IDQualified GO termEvidencePubMed IDs
    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


    1 GenomeRNAi human phenotype for HTRA1:
     Decreased Wnt reporter activit 

    Animal Models:
         Mouse knock-out Htra1tm1Ybf for HTRA1
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Htra1):
     cardiovascular system  vision/eye 

    HTRA1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for HTRA1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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



    Drugs & Compounds
    for HTRA1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for HTRA1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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

    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 plasmid: HTRA1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HTRA1 (see all 7)
    OriGene shRNA RFP: HTRA1
    OriGene siRNA: HTRA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HTRA1
    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HTRA1 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
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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 cDNA 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):

    AA349615 AA340884 BM708131 CA447823 BQ183799 BM993893 CD518132 BM696879 
    CA447665 BC011352 CR596858 AW071072 AI799431 CR613636 BM711062 CR611805 
    BI492761 AA682978 AI282288 BU736262 AA044753 NM_002775 CA412992 CR605013 

    GeneLoc Exon Structure


    Expression
    for HTRA1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTCCCTCAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    HTRA1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/21 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 21) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerAII Amacrine CellsAmacrine, Retina
    HeartAtrioventricular CanalAtrioventricular Canal CellsMyocardium
    KidneyPodocyte LayerPodocytesKidney
    LimbStylopod Synovial JointInterzone CellsCartilage
    LimbZeugopodMesenchymal Condensate CellsBone, Cartilage
    OvaryAntral FollicleCumulus CellsOvary
    BoneAutopod Long BoneBone
    BoneStylopod Long BoneBone
    BoneZeugopod Long BoneBone
    BrainChoroid PlexusBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    Intervertebral disc (IVD) annulus fibrosus (AF) cells (Differentiation of s...)Cartilage

    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
    for HTRA1 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for HTRA1 gene from 9/28 species (see all 28)    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
    		 --
    		 78(a)
    		 1 ↔ 1
    		 3(63892839-63944583)
    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)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G276606
    HHOA6
    (see all 14)    		 protease Do-like 5
    (see all 14)    		 29(a)
    23(a)
    (see all 14)    		 many → 1
    possible ortholog
    (see all 14)    		 5(9789468-9792299)
    4(10149129-10151218)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 8)    		 OsDegp12 - Putative Deg protease homologue, expres...
    OsDegp15 - Putative Deg protease homologue, expres...
    (see all 8)    		 24(a)
    24(a)
    (see all 8)    		 many → 1
    possible ortholog
    (see all 8)    		 11(7904958-7912868)
    12(26146553-26151383)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria degS6
    degP6
    (see all 3)    		 serine endoprotease, periplasmic
    serine endoprotease (protease Do), membrane-associ...
    (see all 3)    		 26(a)
    22(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 Chromosome(3380222-3381289)
    Chromosome(180884-182308)


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

    Paralogs
    for HTRA1 gene

    (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



    Genomic Variants
    for HTRA1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1035 NCBI SNPs in HTRA1 are shown (see all 1035)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs22938701,2
    		C,non-pathogenic119411361(+) GCCGGC/G/TTGCCC 3 G syn1 ese32NA 4
    rs10493311,2
    		C,non-pathogenic119411367(+) TTGGCC/TGCCGG 2 A syn1 ese32Minor allele frequency- T:0.25NA 4
    rs1139939711,2
    		Cpathogenic119364134(+) ATGACC/TGACAG 2 R * stg10--------
    rs1139939701,2
    		Cpathogenic119366071(+) CCCAGC/TGAGGC 2 R * stg10--------
    rs1139939691,2
    		Cpathogenic119366086(+) GGATCA/GTGAGC 2 M V mis10--------
    rs1139939681,2
    		Cpathogenic119383516(+) ACATCA/GCACTC 2 T A mis10--------
    rs176240211,2
    		C,F,H,untested119383517(+) GACATC/TGCACT 2 I syn112Minor allele frequency- T:0.04NA NS EA WA EU 6738
    rs733677491,2
    		C,F,--117849905(+) TGGGAT/CCCCCA 1 -- us2k14Minor allele frequency- C:0.24WA CSA 124
    rs1117404561,2
    		C,--117850001(+) TCGGTC/ACGCTC 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs614490101,2
    		C,F,--117850230(+) TTCCAT/CCTGCC 1 -- us2k14Minor allele frequency- C:0.23WA CSA 124

    HapMap Linkage Disequilibrium report for HTRA1 (124221041 - 124274424 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for HTRA1
         3 CNVs: 31777 3823 48442
    Human Gene Mutation Database (HGMD): HTRA1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HTRA1
    DNA2.0 Custom Variant and Variant Library Synthesis for HTRA1

    Disorders / Diseases
    for HTRA1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    HTRA1 for disorders           About GeneDecksing

    OMIM gene information: 602194   
    OMIM disorders: 610149  
    UniProtKB/Swiss-Prot: HTRA1_HUMAN, Q92743
  • Variations in the promoter region of HTRA1 are the cause of susceptibility to age-related macular degeneration
    • type 7 (ARMD7) [MIM:610149]. ARMD is the leading cause of vision loss and blindness among older individuals in the
    developed word. It is classified as either dry (nonneovascular) or wet (neovascular). ARMD7 is a wet form, in which
    new blood vessels form and break beneath the retina. This leakage causes permanent damage to surrounding retinal
    tissue, distorting and destroying central vision. Wet ARMD is more prevalent among Asians than Caucasians
  • Defects in HTRA1 are the cause of cerebral autosomal recessive arteriopathy with subcortical infarcts and
    • leukoencephalopathy (CARASIL) [MIM:600142]. CARASIL is characterized by nonhypertensive cerebral small-vessel
    arteriopathy with subcortical infarcts, alopecia, and spondylosis, with an onset in early adulthood. On
    neuropathological examination, atherosclerosis associated with intimal thickening and dense collagen fibers, loss of
    vascular smooth-muscle cells, and hyaline degeneration of the tunica media has been observed in cerebral small
    arteries

    20/52 diseases for HTRA1 (see all 52):    About MalaCards
    age related macular degeneration    macular degeneration    cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy    post-vaccinal encephalitis
    cat-scratch disease    endemic typhus    spotted fever    carasil
    otitis media    multifocal choroiditis    typhoid fever    klebsiella
    haemophilus influenzae    pilocytic astrocytoma    spondylosis    tuberous sclerosis
    maculopathy    diabetic retinopathy    brucellosis    arteriosclerosis

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

    4 Novoseek 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

    Publications
    for HTRA1 gene

    (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 212):
    (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. Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. (PubMed id 19387015)1, 2, 9 Hara K....Onodera O. (2009)
    3. 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)
    4. 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)
    5. Substrate-induced remodeling of the active site regul ates human HTRA1 activity. (PubMed id 21297635)1, 2 Truebestein L....Ehrmann M. (2011)
    6. The serine protease HtrA1 specifically interacts and degrades the tuberous sclerosis complex 2 protein. (PubMed id 20671064)1, 2 Campioni M....Baldi A. (2010)
    7. HTRA1 promoter polymorphism in wet age-related macular degeneration. (PubMed id 17053108)1, 2 DeWan A.... Hoh J. (2006)
    8. The role of human HtrA1 in arthritic disease. (PubMed id 16377621)1, 2 Grau S....Ehrmann M. (2006)
    9. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. (PubMed id 17053109)1, 2 Yang Z....Zhang K. (2006)
    10. Serine proteases HTRA1 and HTRA3 are down-regulated with increasing grades of human endometrial cancer. (PubMed id 16650464)1, 9 Bowden M.A....Nie G. (2006)

    External Searches for HTRA1 gene

    (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)

    Genome Databases showing HTRA1 gene

    (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

    Other Databases showing HTRA1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HTRA1 gene

    (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

    Intellectual Property
    for HTRA1 gene

    (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



    Products
    for HTRA1 gene

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    About This Section

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     HTRA1 Proteins, Antibodies, CLIAs, and ELISAs
     Cell Line associated with HTRA1: PureStem ES-210, Ecto-ntu Progenitor
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