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

Gene ID: 871, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See SERPINH1 in Genome Data Viewer
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_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory regions 6111 and 12908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3765 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75142886-75143772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75151983-75152545 Neighboring gene kelch like family member 35 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75167384-75167982 Neighboring gene glycerophosphodiester phosphodiesterase domain containing 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75171856-75172358 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:75177195-75177867 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:75178136-75178783 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:75178784-75179430 Neighboring gene uncharacterized LOC105369389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75236337-75236837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3767 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:75242693-75243509 Neighboring gene CRISPRi-validated cis-regulatory element chr11.4348 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:75248027-75248527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75254283-75254784 Neighboring gene VISTA enhancer hs1748 Neighboring gene CRISPRi-validated cis-regulatory element chr11.4355 Neighboring gene CRISPRi-validated cis-regulatory element chr11.4356 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:75272978-75273517 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:75273518-75274058 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:75274059-75274597 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:75276989-75277604 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:75277605-75278219 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75279454-75279954 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:75287552-75288052 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:75289175-75289343 Neighboring gene uncharacterized LOC105369391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3772 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:75295275-75295854 Neighboring gene microtubule associated protein 6 Neighboring gene ribosomal protein L37 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly. Marshall C, et al. Gene, 2016 Dec 20. PMID 27677223
  2. Proliferation of HSP47-positive skin fibroblasts in dermatofibroma. Kuroda K, et al. J Cutan Pathol, 2008 Jan. PMID 18095990
  3. A 12-bp deletion in the 5'-flanking region of the SERPINH1 gene affects promoter activity and protects against preterm premature rupture of membranes in African Americans. Wang H, et al. Hum Mutat, 2008 Feb. PMID 18205191
  4. Unexpected expression of Hsp47, a replacement of one amino acid (Val 7 Leu) in the amino terminal region, in cultured human tumorigenic cell lines. Katagata Y, et al. J Dermatol Sci, 2008 Jan. PMID 18293509
  5. Expression sites of colligin 2 in glioma blood vessels. Mustafa D, et al. Brain Pathol, 2010 Jan. PMID 19067716, Free PMC Article

See all (267) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Hsp47 promotes biogenesis of multi-subunit neuroreceptors in the endoplasmic reticulum.
    Title: Hsp47 promotes biogenesis of multi-subunit neuroreceptors in the endoplasmic reticulum.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. HSP47 levels determine the degree of body adiposity.
    Title: HSP47 levels determine the degree of body adiposity.
  8. Biglycan promotes hepatic fibrosis through activating heat shock protein 47.
    Title: Biglycan promotes hepatic fibrosis through activating heat shock protein 47.
  9. Hub gene target of glioblastoma: LOX, SERPINH1 and TGFBI.
    Title: Hub gene target of glioblastoma: LOX, SERPINH1 and TGFBI.
  10. 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
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA 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 PubMed 
located_in collagen-containing extracellular matrix HDA 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

  1. NG_012052.1 RefSeqGene

    Range
    5129..15659
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    75562253..75572783
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545327.2 → XP_011543629.1  serpin H1 isoform X1

    See identical proteins and their annotated locations for XP_011543629.1

    UniProtKB/Swiss-Prot
    B3KVJ3, P29043, P50454, Q5XPB4, Q6NSJ6, Q8IY96, Q9NP88
    UniProtKB/TrEMBL
    A8K259
    Conserved Domains (1) summary
    cd02046
    Location:36 → 417
    serpinH1_CBP1; serpin family H member 1, collagen-binding protein 1

  2. XM_047427800.1 → XP_047283756.1  serpin H1 isoform X1

    UniProtKB/Swiss-Prot
    B3KVJ3, P29043, P50454, Q5XPB4, Q6NSJ6, Q8IY96, Q9NP88
    Related
    ENSP00000434412.1, ENST00000524558.5

  3. XM_024448756.2 → XP_024304524.1  serpin H1 isoform X1

    UniProtKB/Swiss-Prot
    B3KVJ3, P29043, P50454, Q5XPB4, Q6NSJ6, Q8IY96, Q9NP88
    UniProtKB/TrEMBL
    A8K259
    Related
    ENSP00000431827.2, ENST00000533449.6
    Conserved Domains (1) summary
    cd02046
    Location:36 → 417
    serpinH1_CBP1; serpin family H member 1, collagen-binding protein 1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    75491520..75502159
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370355.1 → XP_054226330.1  serpin H1 isoform X1

    UniProtKB/Swiss-Prot
    B3KVJ3, P29043, P50454, Q5XPB4, Q6NSJ6, Q8IY96, Q9NP88

  2. XM_054370353.1 → XP_054226328.1  serpin H1 isoform X1

    UniProtKB/Swiss-Prot
    B3KVJ3, P29043, P50454, Q5XPB4, Q6NSJ6, Q8IY96, Q9NP88

  3. XM_054370354.1 → XP_054226329.1  serpin H1 isoform X1

    UniProtKB/Swiss-Prot
    B3KVJ3, P29043, P50454, Q5XPB4, Q6NSJ6, Q8IY96, Q9NP88
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P50454.2 GenPept UniProtKB/Swiss-Prot:P50454

Gene LinkOut

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