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Htra1 Gene Detail
Summary
  • Symbol
    Htra1
  • Name
    HtrA serine peptidase 1
  • Synonyms
    HtrA1, insulin-like growth factor binding protein 5 protease, L56, Prss11, RSPP11
  • Feature Type
    protein coding gene
  • IDs
    MGI:1929076
    NCBI Gene: 56213
  • Gene Overview
    MyGene.info: HTRA1
Location & Maps
more
  • Sequence Map
    Chr7:130936111-130985660 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      49550 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 73.20 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    HTRA1, HtrA serine peptidase 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    HTRA1, HtrA serine peptidase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ARMD7, CADASIL2, CARASIL, HtrA, L56, ORF480, PRSS11
  • Links
    NCBI Gene ID: 5654
    neXtProt AC: NX_Q92743

  • Chr Location
    10q26.3; chr10:122461525-122514908 (+)  GRCh38.p2
Human Diseases
more
  • Diseases
    3 with human HTRA1 associations

Human Disease Mouse Models
       Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2; CADASIL2   OMIM: 616779
Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy; CARASIL   OMIM: 600142
Macular Degeneration, Age-Related, 7; ARMD7   OMIM: 610149
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 2 alleles in 2 genetic backgrounds
    11 phenotypes from multigenic genotypes
    7 images
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit normal retinal morphology. Mice homozygous for a different allele exhibit increased bone volume and increased trabecular bone thickness without body weight gain.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    24
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    270
  • Tissues
    98
  • cDNA Data
    99
  • Literature Summary
    18
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031663 VEGA Gene Model | MGI Sequence Detail 49550 C57BL/6J ±  kb
transcript OTTMUST00000078440 VEGA | MGI Sequence Detail 2041 Not Applicable  
polypeptide OTTMUSP00000041705 VEGA | MGI Sequence Detail 480 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    347 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 103
    cDNA 99
    Primer pair 2
    Other 2

    Microarray probesets 4
Other
Accession IDs
less
MGI:2141952
References
more
  • Summaries
    All 61
    Developmental Gene Expression 18
    Gene Ontology 7
    Phenotypes 16
  • Earliest
    J:64479 Gray CW, et al., Characterization of human HtrA2, a novel serine protease involved in the mammalian cellular stress response. Eur J Biochem. 2000 Sep;267(18):5699-710
  • Latest
    J:230972 Liu J, et al., Postnatal overexpression of the human ARMS2 gene does not induce abnormalities in retina and choroid in transgenic mouse models. Invest Ophthalmol Vis Sci. 2015 Feb;56(2):1387-8
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/20/2016
MGI 6.05 		The Jackson Laboratory