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HTRA1 Gene

protein-coding   GIFtS: 62
GCID: GC10P124221

HtrA Serine Peptidase 1

(Previous names: protease, serine, 11 (IGF binding))
(Previous symbol: PRSS11)
  See HTRA1-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)
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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 5     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NC_018921.2  NT_030059.14  
Regulatory elements:
   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 Chromatin IP Primers for HTRA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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)
Selected 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

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


See HTRA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_002766.1  
ENSEMBL proteins: 
 ENSP00000357980   ENSP00000412676  

HTRA1 Human Recombinant Protein Products:

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Cloud-Clone Corp. Proteins for HTRA1

 
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HTRA1 Antibody Products:

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Novus Biologicals HTRA1 Antibodies
Abcam antibodies for HTRA1
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ThermoFisher Antibodies for HTRA1
LSBio Antibodies in human, mouse, rat for HTRA1

HTRA1 Assay Products:

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Cloud-Clone Corp. ELISAs for HTRA1
Cloud-Clone Corp. CLIAs for HTRA1
Search eBioscience for ELISAs for HTRA1 


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

Selected InterPro protein domains (see all 6):
 IPR002350 Kazal_dom
 IPR001940 Peptidase_S1C
 IPR000867 IGFBP-like
 IPR001478 PDZ
 IPR009030 Growth_fac_rcpt_N_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


Find genes that share domains with HTRA1           About GenesLikeMe


(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:    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--
     
Find genes that share ontologies with HTRA1           About GenesLikeMe


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

     4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Htra1):
 cardiovascular system  growth/size/body  skeleton  vision/eye 

Find genes that share phenotypes with HTRA1           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Htra1tm1Ybf for HTRA1

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HTRA1
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
Products:
    
miRTarBase miRNAs that target HTRA1:
hsa-mir-16-5p (MIRT032028), hsa-mir-155-5p (MIRT021015), hsa-mir-26b-5p (MIRT030211)

Block miRNA regulation of human, mouse, rat HTRA1 using miScript Target Protectors
7 qRT-PCR 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
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OriGene RNAi products in human, mouse, rat for HTRA1
Predesigned siRNA for gene silencing in human, mouse, rat HTRA1

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for HTRA1

Clone
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OriGene clones in human, mouse for HTRA1 (see all 8)
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)
Sino Biological Human cDNA Clone for HTRA1
DNA2.0 Custom Codon Optimized Gene Synthesis Service for HTRA1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HTRA1

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for HTRA1
ESI BIO PureStem Progenitor for HTRA1: 
PureStem ES-210, Ecto-ntu Progenitor
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HTRA1


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
HTRA1_HUMAN, Q92743: Secreted. Cytoplasm, cytosol. Note=Predominantly secreted. Also found associated with the
plasma membrane
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol5
extracellular5
endoplasmic reticulum1
lysosome1
mitochondrion1
peroxisome1
plasma membrane1

Gene Ontology (GO): 5 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region ----
GO:0005615extracellular space TAS9852107
GO:0005829cytosol IEA--
GO:0031012colocalizes with extracellular matrix IDA--
GO:0070062extracellular vesicular exosome IDA19199708

Find genes that share ontologies with HTRA1           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HTRA1
Interactions:

    GeneGlobe Interaction Network for HTRA1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for HTRA1 (Q927432, 3 ENSP000003579804) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
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
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Gene Ontology (GO): 4 biological process terms:    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--

Find genes that share ontologies with HTRA1           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

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)



Find genes that share compounds with HTRA1           About GenesLikeMe



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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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Block miRNA regulation of human, mouse, rat HTRA1 using miScript Target Protectors
7 qRT-PCR 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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Predesigned siRNA for gene silencing in human, mouse, rat HTRA1
Clone
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OriGene ORF clones in mouse, rat for HTRA1
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GenScript: all cDNA clones in your preferred vector: HTRA1 (NM_002775)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HTRA1
Primer
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OriGene qPCR primer pairs and template standards for HTRA1
OriGene qSTAR qPCR primer pairs in human, mouse for HTRA1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HTRA1
  QuantiTect SYBR Green Assays in human, mouse, rat HTRA1
  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 

Selected AceView cDNA sequences (see all 499):

AA488385 BC011352 BM696879 BG675276 BM711062 AW078837 BM708131 CB215512 
CN479428 BI962502 AA044753 CR590731 AW071072 AA476373 AA128020 BQ182522 
CD518132 CD242884 BX119431 BM920867 CR613636 AA729410 AI282288 AA476323 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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HTRA1 expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 30) fully expand
 
 Limb (Muscoskeletal System)    fully expand to see all 6 entries
         Interzone Cells Stylopod Synovial Joint
         Zeugopod
 
 Bone (Muscoskeletal System)    fully expand to see all 5 entries
         Mesenchymal Condensate Cells Zeugopod
         Zeugopod Long Bone
 
 Brain (Nervous System)    fully expand to see all 5 entries
         Cerebral Cortex
 
 Heart (Cardiovascular System)    fully expand to see all 3 entries
         Atrioventricular Canal Cells Atrioventricular Canal
         Dorsal Aorta
 
 Ovary (Reproductive System)    fully expand to see all 3 entries
         Ovarian Mesenchymal Stroma Cells Ovary Interstitium
         Oviduct
HTRA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

HTRA1 Protein Expression

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)

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QuantiTect SYBR Green Assays in human, mouse, rat HTRA1
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)
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This gene was present in the common ancestor of animals.

Orthologs for HTRA1 gene from Selected 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 86.33(n)1
93.86(a)1
  7 (73.20 cM)5
562131  NM_019564.31  NP_062510.21 
 1309361115 
chicken
(Gallus gallus)
Aves HTRA16
HtrA serine peptidase 1
90(a)
1 ↔ 1
6(30810573-30839263)
lizard
(Anolis carolinensis)
Reptilia HTRA16
HtrA serine peptidase 1
79(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
40(a)
1 → many
3R(10334771-10337434)


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)
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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

Find genes that share paralogs with HTRA1           About GenesLikeMe



(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for HTRA1 (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
Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 602194   
OMIM disorders: 610149  600142  
UniProtKB/Swiss-Prot: HTRA1_HUMAN, Q92743
  • 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. 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

  • 8 diseases for HTRA1:    
    About MalaCards
    cat-scratch disease    carasil    age-related macular degeneration 7    kuhnt-junius degeneration
    corneal deposit    choroiditis    age related macular degeneration    multifocal choroiditis

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

    Find genes that share disorders with HTRA1           About GenesLikeMe

    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

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    PubMed articles for HTRA1 gene, integrated from 10 sources (see all 238):
    (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. (FEBS Lett. 1996)
    2. HTRA1 promoter polymorphism in wet age-related macular degeneration. (PubMed id 17053108)1, 2, 4 Dewan A.... Hoh J. (Science 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. (Science 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. (Mol. Vis. 2008)
    5. Association of HTRA1 mutations and familial ischemic cerebral small- vessel disease. (PubMed id 19387015)1, 2, 9 Hara K.... Onodera O. (N. Engl. J. Med. 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. (J. Biol. Chem. 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. (Chin. Med. J. 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. (Ophthalmology 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. (Mol. Vis. 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. (Neurobiol. Aging 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 5654 HGNC: 9476 AceView: PRSS11 Ensembl:ENSG00000166033 euGenes: HUgn5654
    ECgene: HTRA1 H-InvDB: HTRA1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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/books/NBK1116/?term=HTRA1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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