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

Gene ID: 871, updated on 9-Dec-2018

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
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

Genomic context

See SERPINH1 in Genome Data Viewer
Location:
11q13.5
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (75562056..75572804)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (75273101..75283849)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene glycerophosphodiester phosphodiesterase domain containing 5 Neighboring gene uncharacterized LOC105369389 Neighboring gene VISTA enhancer hs1748 Neighboring gene uncharacterized LOC105369391 Neighboring gene microtubule associated protein 6 Neighboring gene ribosomal protein L37 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Pathways from BioSystems

  • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
    Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
  • Collagen formation, organism-specific biosystem (from REACTOME)
    Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
  • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
    Endochondral Ossification, organism-specific biosystemEndochondral ossification is the process by which the embryonic cartilaginous model of most bones contributes to longitudinal growth and is gradually replaced by bone. During endochondral ossificatio...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
collagen binding NAS
Non-traceable Author Statement
more info
PubMed 
serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
unfolded protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chondrocyte development involved in endochondral bone morphogenesis IEA
Inferred from Electronic Annotation
more info
 
collagen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
collagen fibril organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein maturation IEA
Inferred from Electronic Annotation
more info
 
response to unfolded protein TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
collagen-containing extracellular matrix HDA PubMed 
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum NAS
Non-traceable Author Statement
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
endoplasmic reticulum-Golgi intermediate compartment IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
membrane raft IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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
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)

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

  1. NG_012052.1 RefSeqGene

    Range
    4932..15680
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001207014.1NP_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, DC398178
    Consensus CDS
    CCDS8239.1
    UniProtKB/Swiss-Prot
    P50454
    UniProtKB/TrEMBL
    A0A024R5K8, A8K259
    Related
    ENSP00000434657.1, ENST00000533603.5
    Conserved Domains (1) summary
    cd02046
    Location:42406
    hsp47; Heat shock protein 47 (Hsp47), also called colligin, because of its collagen binding ability, is a chaperone specific for procollagen. It has been shown to be essential for collagen biosynthesis, but its exact function is still unclear. Hsp47 is a ...
  2. NM_001235.3NP_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
    P50454
    UniProtKB/TrEMBL
    A0A024R5K8
    Related
    ENSP00000350894.3, ENST00000358171.7
    Conserved Domains (1) summary
    cd02046
    Location:42406
    hsp47; Heat shock protein 47 (Hsp47), also called colligin, because of its collagen binding ability, is a chaperone specific for procollagen. It has been shown to be essential for collagen biosynthesis, but its exact function is still unclear. Hsp47 is a ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    75562056..75572804
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545327.1XP_011543629.1  serpin H1 isoform X1

    See identical proteins and their annotated locations for XP_011543629.1

    UniProtKB/Swiss-Prot
    P50454
    UniProtKB/TrEMBL
    A0A024R5K8
    Conserved Domains (1) summary
    cd02046
    Location:42406
    hsp47; Heat shock protein 47 (Hsp47), also called colligin, because of its collagen binding ability, is a chaperone specific for procollagen. It has been shown to be essential for collagen biosynthesis, but its exact function is still unclear. Hsp47 is a ...
  2. XM_024448756.1XP_024304524.1  serpin H1 isoform X1

    Related
    ENSP00000434412.1, ENST00000524558.5
    Conserved Domains (1) summary
    cd02046
    Location:42406
    hsp47; Heat shock protein 47 (Hsp47), also called colligin, because of its collagen binding ability, is a chaperone specific for procollagen. It has been shown to be essential for collagen biosynthesis, but its exact function is still unclear. Hsp47 is a ...
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