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Aliases for SERPINH1 Gene

Aliases for SERPINH1 Gene

  • Serpin Peptidase Inhibitor, Clade H (Heat Shock Protein 47), Member 1, (Collagen Binding Protein 1) 2 3
  • SERPINH2 3 4 6
  • CBP1 3 4 6
  • CBP2 3 4 6
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade H (Heat Shock Protein 47), Member 1, (Collagen Binding Protein 1) 2 3
  • Cell Proliferation-Inducing Gene 14 Protein 3 4
  • Rheumatoid Arthritis-Related Antigen RA-A47 3 4
  • Arsenic-Transactivated Protein 3 3 4
  • 47 KDa Heat Shock Protein 3 4
  • PPROM 3 6
  • AsTP3 3 4
  • HSP47 3 4
  • OI10 3 6
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade H (Heat Shock Protein 47), Member 2, (Collagen-Binding Protein 2) 3
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade H (Heat Shock Protein 47), Member 2 2
  • Rheumatoid Arthritis Antigen A-47 3
  • Collagen-Binding Protein 4
  • Colligin-1 3
  • Colligin-2 3
  • Serpin H1 3
  • Colligin 4
  • RA-A47 3
  • PIG14 3
  • Gp46 3

External Ids for SERPINH1 Gene

Previous Symbols for SERPINH1 Gene

  • CBP1
  • CBP2
  • SERPINH2

Summaries for SERPINH1 Gene

Entrez Gene Summary for SERPINH1 Gene

  • 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]

GeneCards Summary for SERPINH1 Gene

SERPINH1 (Serpin Peptidase Inhibitor, Clade H (Heat Shock Protein 47), Member 1, (Collagen Binding Protein 1)) is a Protein Coding gene. Diseases associated with SERPINH1 include cervical incompetence and arthritis. Among its related pathways are Endochondral Ossification and Degradation of the extracellular matrix. GO annotations related to this gene include unfolded protein binding and collagen binding.

UniProtKB/Swiss-Prot for SERPINH1 Gene

  • Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen

Gene Wiki entry for SERPINH1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPINH1 Gene

Genomics for SERPINH1 Gene

Genomic Location for SERPINH1 Gene

Start:
75,562,056 bp from pter
End:
75,572,804 bp from pter
Size:
10,749 bases
Orientation:
Plus strand

Genomic View for SERPINH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SERPINH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPINH1 Gene

Regulatory Elements for SERPINH1 Gene

Proteins for SERPINH1 Gene

  • Protein details for SERPINH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50454-SERPH_HUMAN
    Recommended name:
    Serpin H1
    Protein Accession:
    P50454
    Secondary Accessions:
    • B3KVJ3
    • P29043
    • Q5XPB4
    • Q6NSJ6
    • Q8IY96
    • Q9NP88

    Protein attributes for SERPINH1 Gene

    Size:
    418 amino acids
    Molecular mass:
    46441 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SERPINH1 Gene

Proteomics data for SERPINH1 Gene at MOPED

Post-translational modifications for SERPINH1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys39, Lys94, Lys287, Lys319, and Lys380
  • Glycosylation at Asn120 and Asn125

No data available for DME Specific Peptides for SERPINH1 Gene

Domains for SERPINH1 Gene

Gene Families for SERPINH1 Gene

HGNC:
  • SERPIN :Serine (or cysteine) peptidase inhibitors

Protein Domains for SERPINH1 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

SERPH_HUMAN
Family:
  • Belongs to the serpin family.:
    • P50454
genes like me logo Genes that share domains with SERPINH1: view

Function for SERPINH1 Gene

Molecular function for SERPINH1 Gene

UniProtKB/Swiss-Prot Function: Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen
UniProtKB/Swiss-Prot Induction: By heat shock

Gene Ontology (GO) - Molecular Function for SERPINH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity TAS 1309665
GO:0005515 protein binding --
GO:0005518 collagen binding NAS 7656593
GO:0044822 poly(A) RNA binding IDA 22658674
GO:0051082 unfolded protein binding IEA --
genes like me logo Genes that share ontologies with SERPINH1: view
genes like me logo Genes that share phenotypes with SERPINH1: view

Animal Models for SERPINH1 Gene

MGI Knock Outs for SERPINH1:

miRNA for SERPINH1 Gene

miRTarBase miRNAs that target SERPINH1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SERPINH1 Gene

Localization for SERPINH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINH1 Gene

Endoplasmic reticulum lumen.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SERPINH1 Gene COMPARTMENTS Subcellular localization image for SERPINH1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
cytoskeleton 2
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SERPINH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 NOT extracellular space IBA --
GO:0005737 cytoplasm --
GO:0005783 endoplasmic reticulum NAS 7656593
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA 15308636
genes like me logo Genes that share ontologies with SERPINH1: view

Pathways for SERPINH1 Gene

genes like me logo Genes that share pathways with SERPINH1: view

Pathways by source for SERPINH1 Gene

1 BioSystems pathway for SERPINH1 Gene

Gene Ontology (GO) - Biological Process for SERPINH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003433 chondrocyte development involved in endochondral bone morphogenesis IEA --
GO:0006986 response to unfolded protein TAS 10023073
GO:0010951 negative regulation of endopeptidase activity IBA --
GO:0030162 regulation of proteolysis --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with SERPINH1: view

Compounds for SERPINH1 Gene

(16) Novoseek inferred chemical compound relationships for SERPINH1 Gene

Compound -log(P) Hits PubMed IDs
procollagen 90 82
chlorhexidine gluconate 47.1 4
sodium arsenite 35.7 1
bafilomycin a1 35.3 2
monensin 22.6 2
genes like me logo Genes that share compounds with SERPINH1: view

Transcripts for SERPINH1 Gene

Unigene Clusters for SERPINH1 Gene

Serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINH1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b · 7c ^ 8a · 8b ^ 9
SP1: - - - - - - - -
SP2: - - - -
SP3: -
SP4: -
SP5: - - - - - - - -
SP6: - - - - - -
SP7: -
SP8:
SP9: - - - -
SP10: - - - - - -
SP11: - -

Relevant External Links for SERPINH1 Gene

GeneLoc Exon Structure for
SERPINH1
ECgene alternative splicing isoforms for
SERPINH1

Expression for SERPINH1 Gene

mRNA expression in normal human tissues for SERPINH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SERPINH1 Gene

SOURCE GeneReport for Unigene cluster for SERPINH1 Gene Hs.596449

genes like me logo Genes that share expressions with SERPINH1: view

Orthologs for SERPINH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPINH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SERPINH1 36
  • 99.6 (n)
  • 100 (a)
SERPINH1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SERPINH1 36
  • 91.23 (n)
  • 96.17 (a)
SERPINH1 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SERPINH1 36
  • 92.62 (n)
  • 98.7 (a)
SERPINH1 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Serpinh1 36
  • 89.67 (n)
  • 96.35 (a)
Serpinh1 16
Serpinh1 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SERPINH1 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SERPINH1 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Serpinh1 36
  • 89.15 (n)
  • 96.09 (a)
chicken
(Gallus gallus)
Aves SERPINH1 36
  • 76.39 (n)
  • 80.99 (a)
SERPINH1 37
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SERPINH1 37
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia hsp47-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490491 36
  • 73.52 (n)
  • 77.34 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5538 36
zebrafish
(Danio rerio)
Actinopterygii hsp47 36
SERPINH1 (2 of 5) 37
  • 32 (a)
OneToMany
SERPINH1 (4 of 5) 37
  • 29 (a)
OneToMany
SERPINH1 (5 of 5) 37
  • 24 (a)
OneToMany
serpinh1a 36
  • 69.1 (n)
  • 68.93 (a)
serpinh1a 37
  • 66 (a)
OneToMany
serpinh1b 37
  • 66 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Spn28D 37
  • 18 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea srp-1 37
  • 25 (a)
OneToMany
srp-2 37
  • 23 (a)
OneToMany
srp-3 37
  • 19 (a)
OneToMany
srp-5 37
  • 28 (a)
OneToMany
srp-6 37
  • 21 (a)
OneToMany
srp-7 37
  • 22 (a)
OneToMany
srp-8 37
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 21 (a)
OneToOne
Species with no ortholog for SERPINH1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SERPINH1 Gene

ENSEMBL:
Gene Tree for SERPINH1 (if available)
TreeFam:
Gene Tree for SERPINH1 (if available)

Paralogs for SERPINH1 Gene

Pseudogenes.org Pseudogenes for SERPINH1 Gene

genes like me logo Genes that share paralogs with SERPINH1: view

No data available for Paralogs for SERPINH1 Gene

Variants for SERPINH1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINH1 Gene

P50454-SERPH_HUMAN
A functional SNP in the promoter of SERPINH1 is associated in African Americans with an increased risk for preterm premature rupture of membranes (PPROM) [MIM:610504]. PPROM is defined as rupture of the membranes before 37 weeks of gestation. SERPINH1 with the -656 T allele displays significantly reduced promoter activity compared to the major -656 C allele. Prematurity is correlated with an increased frequency of the -656 T allele

Sequence variations from dbSNP and Humsavar for SERPINH1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs6704 -- 75,572,608(+) CTGGG(A/C)AGACT utr-variant-3-prime
rs9175 -- 75,572,208(+) GAAAA(A/G)CAGAC utr-variant-3-prime
rs12978 -- 75,572,573(+) GAGGC(A/G)GATTG utr-variant-3-prime
rs584961 -- 75,566,583(+) TCGCT(A/G)GGGCT reference, synonymous-codon
rs585821 -- 75,571,837(+) GACTT(A/G)TCACG synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for SERPINH1 Gene

Variant ID Type Subtype PubMed ID
nsv897923 CNV Loss 21882294
nsv525193 CNV Loss 19592680

Relevant External Links for SERPINH1 Gene

HapMap Linkage Disequilibrium report
SERPINH1
Human Gene Mutation Database (HGMD)
SERPINH1
Locus Specific Mutation Databases (LSDB)
SERPINH1

Disorders for SERPINH1 Gene

(2) OMIM Diseases for SERPINH1 Gene (600943)

UniProtKB/Swiss-Prot

SERPH_HUMAN
  • Osteogenesis imperfecta 10 (OI10) [MIM:613848]: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI10 is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclerae. {ECO:0000269 PubMed:20188343}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(23) Novoseek inferred disease relationships for SERPINH1 Gene

Disease -log(P) Hits PubMed IDs
shock 73.1 56
conjunctival scarring 69 4
fibromatosis, gingival, hereditary 66.9 1
keloid 60.9 14
scars hypertrophic 50.5 1

Relevant External Links for SERPINH1

Genetic Association Database (GAD)
SERPINH1
Human Genome Epidemiology (HuGE) Navigator
SERPINH1
genes like me logo Genes that share disorders with SERPINH1: view

Publications for SERPINH1 Gene

  1. Cloning of a human collagen-binding protein, and its homology with rat gp46, chick hsp47 and mouse J6 proteins. (PMID: 1309665) Clarke E. … Sandwal B.D. (Biochim. Biophys. Acta 1992) 3 4 23
  2. Rheumatoid arthritis-related antigen 47kDa (RA-A47) is a product of colligin-2 and acts as a human HSP47. (PMID: 11052465) Hattori T. … Takigawa M. (J. Bone Miner. Metab. 2000) 3 4 23
  3. Isolation, characterization and chromosomal assignment of human colligin-2 gene (CBP2). (PMID: 7656593) Ikegawa S. … Nakamura Y. (Cytogenet. Cell Genet. 1995) 2 3 4
  4. A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans. (PMID: 16938879) Wang H. … Strauss J.F. III (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 4 49
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for SERPINH1 Gene

Sources for SERPINH1 Gene

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