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 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 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; chr11:75273101-75283849 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human SERPINH1

Alleles and phenotypes

All alleles(42) : Targeted(1) Gene trapped(41)
 

Mice homozygous for disruptions in this gene die as embryos before E11.5.

 

Gene Ontology (GO) classifications

All GO classifications: (13 annotations)

Process	collagen biosynthetic process, collagen fibril organization, ...
Component	cytoplasm, endoplasmic reticulum, ...
Function	protein binding, serine-type endopeptidase inhibitor activity, ...

External Resources: FuncBase

Expression

Literature Summary: (15 records)
Data Summary: Results (212)    Tissues (85)    Images (17)
Theiler Stages: 13, 15, 17, 19, 20, 21, 22, 23, 24, 26, 28

Assay Type	Results
Immunohistochemistry	85
RNA in situ	101
Northern blot	9
Western blot	17

cDNA source data(442)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(446) Genomic(3) cDNA(442) Other(1)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000070436 (Evidence)
Entrez Gene	12406 (Evidence)
UniGene	22708
DFCI	TC1573781, TC1610153, TC1709701
DoTS	DT.101391219, DT.101709213, DT.101720665, DT.496013, DT.94394561, DT.97388153, DT.97388168, DT.99866362
NIA Mouse Gene Index	U095787, U304221
Consensus CDS Project	CCDS21480.1
International Mouse Knockout Project Status	Serpinh1

Sequences

Length	Strain/Species
genomic	ENSMUSG00000070436	Ensembl Gene Model | MGI Sequence Detail	7856	C57BL/6J
transcript	ENSMUST00000169437	Ensembl | MGI Sequence Detail	2391	Not Applicable
polypeptide	ENSMUSP00000126390	Ensembl | MGI Sequence Detail	417	Not Applicable

All sequences(65) RefSeq(6) UniProt(6)

Polymorphisms

SNPs(61 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:187697 Sasaki M, et al., D-2-hydroxyglutarate produced by mutant IDH1 perturbs collagen maturation and basement membrane function. Genes Dev. 2012 Sep 15;26(18):2038-49
All references(60)

Other accession IDs

MGD-MRK-10956, MGD-MRK-1786, MGD-MRK-39501, MGI:109502