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

    Gene ID: 871, updated on 20-Dec-2019

    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
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (75562253..75572811)
    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 CRISPRi-validated cis-regulatory element chr11.4355 Neighboring gene CRISPRi-validated cis-regulatory element chr11.4356 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 Functions

    What'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 PubChem

    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
      5129..15687
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001207014.2NP_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, AP001922, AP002815, BQ016136
      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_001235.5NP_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 Updated Annotation Release 109.20191205

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      75562253..75572811
      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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