SERPINH1 serpin family H member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SERPINH1provided by HGNC
Official Full Name: serpin family H member 1provided by HGNC
Primary source: HGNC:HGNC:1546
See related: Ensembl:ENSG00000149257 MIM:600943; AllianceGenome:HGNC:1546
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CBP1; CBP2; OI10; gp46; AsTP3; HSP47; PIG14; PPROM; RA-A47; SERPINH2
Summary: This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]
Expression: Broad expression in placenta (RPKM 140.7), endometrium (RPKM 76.2) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.5

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (75562253..75572783)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (75491520..75502159)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (75273298..75283828)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hsp47 promotes biogenesis of multi-subunit neuroreceptors in the endoplasmic reticulum.
Title: Hsp47 promotes biogenesis of multi-subunit neuroreceptors in the endoplasmic reticulum.
Alteration of SERPINH1 is associated with elevated expression in head and neck squamous cell carcinomas and its clinicopathological significance.
Title: Alteration of SERPINH1 is associated with elevated expression in head and neck squamous cell carcinomas and its clinicopathological significance.
SERPINH1 variants and thrombotic risk among middle-aged and older adults: a population-based cohort study.
Title: SERPINH1 variants and thrombotic risk among middle-aged and older adults: a population-based cohort study.
Serpin family H member 1 and its related collagen gene network are the potential prognostic biomarkers and anticancer targets for glioma.
Title: Serpin family H member 1 and its related collagen gene network are the potential prognostic biomarkers and anticancer targets for glioma.
High Levels of Heat Shock Protein 47 in the Aqueous Humor of Patients with Acute Primary Angle Closure.
Title: High Levels of Heat Shock Protein 47 in the Aqueous Humor of Patients with Acute Primary Angle Closure.
miR-29c-3p represses the angiogenesis of esophageal squamous cell carcinoma by targeting SERPINH1 to regulate the Wnt signaling pathway.
Title: miR-29c-3p represses the angiogenesis of esophageal squamous cell carcinoma by targeting SERPINH1 to regulate the Wnt signaling pathway.
HSP47 levels determine the degree of body adiposity.
Title: HSP47 levels determine the degree of body adiposity.
Biglycan promotes hepatic fibrosis through activating heat shock protein 47.
Title: Biglycan promotes hepatic fibrosis through activating heat shock protein 47.
Hub gene target of glioblastoma: LOX, SERPINH1 and TGFBI.
Title: Hub gene target of glioblastoma: LOX, SERPINH1 and TGFBI.
H19 may regulate the immune cell infiltration in carcinogenesis of gastric cancer through miR-378a-5p/SERPINH1 signaling.
Title: H19 may regulate the immune cell infiltration in carcinogenesis of gastric cancer through miR-378a-5p/SERPINH1 signaling.

Submit: New GeneRIF Correction See all GeneRIFs (90)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Osteogenesis imperfecta type 10 MedGen: C3151211 OMIM: 613848 GeneReviews: Not available	Compare labs
Preterm premature rupture of membranes MedGen: C0729264 OMIM: 610504 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe). EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify 47 kDa heat shock protein (HSP47, serpin H1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
	env	HIV-1 gp120 is identified to have a physical interaction with serpin peptidase inhibitor, clade H (heat shock protein 47), member 1 (SERPINH1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify 47 kDa heat shock protein (HSP47, serpin H1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify 47 kDa heat shock protein (HSP47, serpin H1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify 47 kDa heat shock protein (HSP47, serpin H1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A002P11 (e-PCR)
- UniSTS:22801

RH11786 (e-PCR)
- UniSTS:43304

D11S4351 (e-PCR)
- UniSTS:43305

MARC_12435-12436:997108034:1 (e-PCR)
- UniSTS:267423

STS-T11182 (e-PCR)
- UniSTS:59086

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables collagen binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables unfolded protein binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chondrocyte development involved in endochondral bone morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in collagen biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in collagen fibril organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein maturation	IEA Inferred from Electronic Annotation more info
involved_in response to unfolded protein	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum	NAS Non-traceable Author Statement more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in endoplasmic reticulum-Golgi intermediate compartment	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: serpin H1

Names: 47 kDa heat shock protein; arsenic-transactivated protein 3; cell proliferation-inducing gene 14 protein; collagen binding protein 1; colligin-1; colligin-2; heat shock protein 47; rheumatoid arthritis antigen A-47; rheumatoid arthritis-related antigen RA-A47; serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1); serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2, (collagen-binding protein 2); serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012052.1 RefSeqGene

Range

5129..15659

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001207014.3 → NP_001193943.1 serpin H1 precursor

See identical proteins and their annotated locations for NP_001193943.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AK130870, AK290124, AP002815, BQ016136

Consensus CDS

CCDS8239.1

UniProtKB/Swiss-Prot

B3KVJ3, P29043, P50454, Q5XPB4, Q6NSJ6, Q8IY96, Q9NP88

UniProtKB/TrEMBL

A8K259

Related

ENSP00000434657.1, ENST00000533603.5

Conserved Domains (1) summary

cd02046
Location:36 → 417

serpinH1_CBP1; serpin family H member 1, collagen-binding protein 1
NM_001235.5 → NP_001226.2 serpin H1 precursor

See identical proteins and their annotated locations for NP_001226.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AK130870, AP002815, BC036298, BQ016136

Consensus CDS

CCDS8239.1

UniProtKB/Swiss-Prot

B3KVJ3, P29043, P50454, Q5XPB4, Q6NSJ6, Q8IY96, Q9NP88

UniProtKB/TrEMBL

A8K259

Related

ENSP00000350894.4, ENST00000358171.8

Conserved Domains (1) summary

cd02046
Location:36 → 417

serpinH1_CBP1; serpin family H member 1, collagen-binding protein 1