Display Settings:

Format

Send to:

Choose Destination

SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) [ Homo sapiens (human) ]

Gene ID: 871, updated on 7-Aug-2014
Official Symbol
SERPINH1provided by HGNC
Official Full Name
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)provided by HGNC
Primary source
HGNC:1546
Locus tag
PIG14
See related
Ensembl:ENSG00000149257; HPRD:02968; MIM:600943; Vega:OTTHUMG00000165362
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]
See SERPINH1 in Epigenomics, MapViewer
Location:
11q13.5
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 kelch-like family member 35 Neighboring gene glycerophosphodiester phosphodiesterase domain containing 5 Neighboring gene microtubule-associated protein 6 Neighboring gene ribosomal protein L37 pseudogene Neighboring gene monoacylglycerol O-acyltransferase 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

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 Protein Interaction Database

  • 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 biosystem
    Endochondral Ossification
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
collagen binding NAS
Non-traceable Author Statement
more info
PubMed 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
 
serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
unfolded protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
collagen biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
collagen fibril organization IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
protein maturation IEA
Inferred from Electronic Annotation
more info
 
regulation of proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
 
response to unfolded protein TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
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
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
Preferred Names
serpin H1
Names
serpin H1
colligin-1
colligin-2
47 kDa heat shock protein
arsenic-transactivated protein 3
rheumatoid arthritis antigen A-47
cell proliferation-inducing gene 14 protein
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)

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 

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

mRNA and Protein(s)

  1. NM_001207014.1NP_001193943.1  serpin H1 precursor

    See proteins identical to 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/TrEMBL
    A8K259
    UniProtKB/Swiss-Prot
    P50454
    Related
    ENSP00000434657, OTTHUMP00000229451, ENST00000533603, OTTHUMT00000383605
    Conserved Domains (1) summary
    cd02046
    Location:42406
    Blast Score: 1891
    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 proteins identical to 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
    Related
    ENSP00000350894, OTTHUMP00000229452, ENST00000358171, OTTHUMT00000383606
    Conserved Domains (1) summary
    cd02046
    Location:42406
    Blast Score: 1891
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

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

mRNA and Protein(s)

  1. XM_006718727.1XP_006718790.1  

    See proteins identical to XP_006718790.1

    UniProtKB/Swiss-Prot
    P50454
    Conserved Domains (1) summary
    cd02046
    Location:42406
    Blast Score: 1891
    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_006718728.1XP_006718791.1  

    See proteins identical to XP_006718791.1

    UniProtKB/Swiss-Prot
    P50454
    Conserved Domains (1) summary
    cd02046
    Location:42406
    Blast Score: 1891
    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 ...
  3. XM_006718729.1XP_006718792.1  

    See proteins identical to XP_006718792.1

    UniProtKB/Swiss-Prot
    P50454
    Conserved Domains (1) summary
    cd02046
    Location:42406
    Blast Score: 1891
    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 ...

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    71570181..71580924
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    75156705..75167451
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)