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Serpinh1 Gene Detail
Summary
  • Symbol
    Serpinh1
  • Name
    serine (or cysteine) peptidase inhibitor, clade H, member 1
  • Synonyms
    Cbp1, Cbp2, colligin, gp46, Hsp47, J6, Serpinh2
  • Feature Type
    protein coding gene
  • IDs
    MGI:88283
    NCBI Gene: 12406
  • Gene Overview
    MyGene.info: SERPINH1
Location & Maps
more
  • Sequence Map
    Chr7:99345376-99353239 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      7864 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 54.07 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SERPINH1, serpin family H member 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    SERPINH1, serpin family H member 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AsTP3, CBP1, CBP2, gp46, HSP47, OI10, PIG14, PPROM, RA-A47, SERPINH2
  • Links
    NCBI Gene ID: 871
    neXtProt AC: NX_P50454

  • Chr Location
    11q13.5; chr11:75562056-75572804 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Serpinh1 mouse models; 2 with human SERPINH1 associations

Human Disease Mouse Models
       Osteogenesis Imperfecta, Type X; OI10   OMIM: 613848 View 1 model
       Preterm Premature Rupture of the Membranes; PPROM   OMIM: 610504
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    37 phenotypes from 2 alleles in 2 genetic backgrounds
    17 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.
  • All Mutations and Alleles
    45
  • Chemically induced (other)
    1
  • Gene trapped
    41
  • Radiation induced
    1
  • Targeted
    2
  • Genomic Mutations
    2 involving Serpinh1
  • Incidental Mutations
Mice homozygous for disruptions in this gene die as embryos before E11.5. Mice homozygous for a conditional allele activated in chondrocytes exhibit complete perinatal lethality, cleft palate, respiratory distress, abnormal chondocytes and bone formation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000058974 VEGA Gene Model | MGI Sequence Detail 7864 C57BL/6J ±  kb
transcript OTTMUST00000144688 VEGA | MGI Sequence Detail 2274 Not Applicable  
polypeptide OTTMUSP00000075388 VEGA | MGI Sequence Detail 417 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    133 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 460
    Genomic 3
    cDNA 456
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-10956, MGD-MRK-1786, MGD-MRK-39501, MGI:109502
References
more
  • Summaries
    All 63
    Developmental Gene Expression 18
    Diseases 1
    Gene Ontology 9
    Phenotypes 17
  • Earliest
    J:10707 Wang SY, et al., A retinoic acid-inducible mRNA from F9 teratocarcinoma cells encodes a novel protease inhibitor homologue [published erratum appears in J Biol Chem 1991 Jul 25;266(21):14135]. J Biol Chem. 1990 Sep 15;265(26):15818-22
  • Latest
    J:219347 Kawasaki K, et al., Deletion of the collagen-specific molecular chaperone Hsp47 causes endoplasmic reticulum stress-mediated apoptosis of hepatic stellate cells. J Biol Chem. 2015 Feb 6;290(6):3639-46

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory