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Serpinh1
Gene Detail
 Symbol
Name
ID
Serpinh1
serine (or cysteine) peptidase inhibitor, clade H, member 1
MGI:88283
Synonyms Cbp1, Cbp2, colligin, gp46, Hsp47, J6, Serpinh2
Feature Type protein coding gene
Genetic Map
Chromosome 7
54.07 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr7:99345375-99353230 bp, - strand
From Ensembl annotation of GRCm38

  7856 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20331  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

Protein SuperFamily: serpin
Gene Tree: Serpinh1

Human
homologs
Human Homolog SERPINH1, serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
NCBI Gene ID 871
neXtProt AC  NX_P50454
Human Synonyms  AsTP3, CBP1, CBP2, gp46, HSP47, OI10, PPROM, RA-A47, SERPINH2
Human Chr (Location)  11q13.5; chr11:75562056-75572804 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human SERPINH1
Mutations,
alleles, and
phenotypes
All mutations/alleles(43) : Gene trapped(41) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Interactions
Serpinh1 interacts with 128 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (18 annotations)
Process chondrocyte development involved in endochondral bone morphogenesis, collagen biosynthetic process, ...
Component cytoplasm, endoplasmic reticulum, ...
Function poly(A) RNA binding, protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (16 records)
Data Summary: Results (212)    Tissues (92)    Images (17)
Theiler Stages: 13, 15, 17, 19, 20, 21, 22, 23, 24, 26, 27, 28
Assay TypeResults
Immunohistochemistry 85
RNA in situ 101
Northern blot 9
Western blot 17
cDNA source data(456)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(460) Genomic(3) cDNA(456) Other(1)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000070436 (Evidence)
Entrez Gene12406 (Evidence)
UniGene22708
DFCITC1573781, TC1610153, TC1709701
DoTSDT.101391219, DT.101709213, DT.101720665, DT.496013, DT.94394561, DT.97388153, DT.97388168, DT.99866362
NIA Mouse Gene IndexU095787, U304221
Consensus CDS ProjectCCDS21480.1
International Mouse Knockout Project StatusSerpinh1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000070436 Ensembl Gene Model | MGI Sequence Detail 7856 C57BL/6J ±  kb
transcript ENSMUST00000169437 Ensembl | MGI Sequence Detail 2391 Not Applicable 
polypeptide ENSMUSP00000126390 Ensembl | MGI Sequence Detail 417 Not Applicable 

For the selected sequences
All sequences(71) RefSeq(12) UniProt(6)
Polymorphisms SNPs within 2kb(136 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR023795 Protease inhibitor I4, serpin, conserved site
InterPro IPR023796 Serpin domain
InterPro IPR000215 Serpin family
Protein Ontology PR:000014708 serpin H1
References (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:208289 Ohnishi Y, et al., Cell-to-cell expression variability followed by signal reinforcement progressively segregates early mouse lineages. Nat Cell Biol. 2014 Jan;16(1):27-37
All references(64)
Other
accession IDs
MGD-MRK-10956, MGD-MRK-1786, MGD-MRK-39501, MGI:109502

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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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory