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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
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:98994583-99002321 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 54.07 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    297 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 Chr7:98994583-99002446 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SERPINH1, serpin family H member 1
  • 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; chr11:75562056-75572783 (+)  GRCh38
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
less
  • Phenotype Summary
    38 phenotypes from 2 alleles in 2 genetic backgrounds
    22 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 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
    23
  • GO References
    13
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    971
  • Tissues
    136
  • cDNA Data
    457
  • Literature Summary
    25
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12406 NCBI Gene Model | MGI Sequence Detail 7739 C57BL/6J ±  kb
    transcript NM_001412219 RefSeq | MGI Sequence Detail 2318 C57BL/6  
    polypeptide P19324 UniProt | EBI | MGI Sequence Detail 417 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 464
      Genomic 3
      cDNA 457
      Primer pair 2
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10956, MGD-MRK-1786, MGD-MRK-39501, MGI:109502
    References
    more
    • Summaries
      All 90
      Developmental Gene Expression 25
      Diseases 1
      Gene Ontology 13
      Phenotypes 22
    • 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:358139 Kot A, et al., Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta. J Bone Miner Res. 2024 Sep 2;39(9):1240-1252
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    12/10/2024
    MGI 6.24     		The Jackson Laboratory