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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
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:99345376-99353239 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 54.07 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    133 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88283
protein coding gene Chr7:99345375-99353239 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032548
protein coding gene Chr7:102135614-102145205 (-)
A/J MGP_AJ_G0032522
protein coding gene Chr7:99592976-99601085 (-)
AKR/J MGP_AKRJ_G0032458
protein coding gene Chr7:101955085-101965636 (-)
BALB/cJ MGP_BALBcJ_G0032533
protein coding gene Chr7:99277123-99285448 (-)
C3H/HeJ MGP_C3HHeJ_G0032248
protein coding gene Chr7:102317228-102324986 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033031
protein coding gene Chr7:106048530-106056288 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030026
protein coding gene Chr7:102026479-102034258 (-)
CAST/EiJ MGP_CASTEiJ_G0031575
protein coding gene Chr7:93857528-93865303 (-)
CBA/J MGP_CBAJ_G0032215
protein coding gene Chr7:109685174-109695233 (-)
DBA/2J MGP_DBA2J_G0032367
protein coding gene Chr7:97933235-97941478 (-)
FVB/NJ MGP_FVBNJ_G0032324
protein coding gene Chr7:97721381-97729963 (-)
LP/J MGP_LPJ_G0032456
protein coding gene Chr7:103458587-103466288 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032356
protein coding gene Chr7:111146287-111154228 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033053
protein coding gene Chr7:101232252-101245270 (-)
PWK/PhJ MGP_PWKPhJ_G0031293
protein coding gene Chr7:91024223-91032006 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031136
protein coding gene Chr7:88533922-88541696 (-)
WSB/EiJ MGP_WSBEiJ_G0031692
protein coding gene Chr7:101897004-101906088 (-)



Homology
more
  • Human Ortholog
    SERPINH1, serpin family H member 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    SERPINH1, serpin family H member 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AsTP3, CBP1, CBP2, gp46, HSP47, OI10, PIG14, PPROM, RA-A47, SERPINH2
  • Links
    NCBI Gene ID: 871
    neXtProt AC: NX_P50454
    UniProt: P50454

  • Chr Location
    11q13.5; chr11:75562056-75572804 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
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
    38 phenotypes from 2 alleles in 2 genetic backgrounds
    18 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000070436 Ensembl Gene Model | MGI Sequence Detail 7864 C57BL/6J ±  kb
    transcript ENSMUST00000169437 Ensembl | MGI Sequence Detail 2274 Not Applicable  
    polypeptide ENSMUSP00000126390 Ensembl | MGI Sequence Detail 417 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 461
      Genomic 3
      cDNA 457
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10956, MGD-MRK-1786, MGD-MRK-39501, MGI:109502
    References
    more
    • Summaries
      All 77
      Developmental Gene Expression 18
      Diseases 1
      Gene Ontology 12
      Phenotypes 18
    • 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:257568 Sepulveda D, et al., Interactome Screening Identifies the ER Luminal Chaperone Hsp47 as a Regulator of the Unfolded Protein Response Transducer IRE1alpha. Mol Cell. 2018 Jan 18;69(2):238-252.e7

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    11/27/2018
    MGI 6.13
    The Jackson Laboratory