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Symbol report for SERPINH1

Stable symbol

HGNC data for SERPINH1

Approved symbol
SERPINH1
Approved name

serpin family H member 1

Locus type
gene with protein product
HGNC ID
HGNC:1546
Symbol status
Approved
Previous symbols
CBP1
CBP2
SERPINH2
Previous names
serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2
serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
Alias symbols
HSP47
Alias names
collagen binding protein 1
colligin
heat shock protein 47
Chromosomal location
11q13.5
Gene groups
Gene resources for SERPINH1
Ensembl
ENSG00000149257 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
871 Curated
UCSC
uc009yug.4
Alliance of Genome Resources
HGNC:1546
Nucleotide resources for SERPINH1
MANE Select
NM_001235.5
ENST00000358171.8
INSDC
X61598 Curated
ENAGenBankDDBJ
RefSeq
NM_004353 Curated
NCBI sequence viewer
CCDS
CCDS8239 Curated
Protein resources for SERPINH1
UniProt/Swiss-Prot
P50454
InterProPDBeReactome
AlphaFold
AF-P50454-F1
Orthologs from selected species for SERPINH1
Bos taurus
SERPINH1 VGNC:34480 VGNC
Canis familiaris
SERPINH1 VGNC:46041 VGNC
Equus caballus
SERPINH1 VGNC:22862 VGNC
Felis catus
SERPINH1 VGNC:65030 VGNC
Macaca mulatta
SERPINH1 VGNC:101395 VGNC
Mus musculus
Serpinh1 MGI:88283 Curated
Pan troglodytes
SERPINH1 VGNC:10185 VGNC
Rattus norvegicus
Serpinh1 RGD:69302
Sus scrofa
SERPINH1 VGNC:92746 VGNC
Clinical resources for SERPINH1
OMIM
600943
LSDB
Osteogenesis Imperfecta Variant Database Curated
GenCC
HGNC:1546
MedlinePlus
Search via SERPINH1
DECIPHER
Search via SERPINH1
ClinGen
Search via HGNC:1546
Genetic Testing Registry
Search via NCBI Gene ID 871
ClinVar
Search via NCBI Gene ID 871
dbVar
Search via NCBI Gene ID 871
Orphanet
227095
Other resources for SERPINH1
AmiGO
Search via P50454
QuickGO
Search via P50454
BioGPS
Search via NCBI Gene ID 871
GeneCards
Search via HGNC:1546
Monarch
Search via HGNC:1546
WikiGenes
Search via NCBI Gene ID 871
References for SERPINH1