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Aliases for SERPINH1 Gene

Aliases for SERPINH1 Gene

  • Serpin Family H Member 1 2 3 5
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade H (Heat Shock Protein 47), Member 1, (Collagen Binding Protein 1) 2 3
  • Serpin Peptidase 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
  • Collagen Binding Protein 1 2 3
  • 47 KDa Heat Shock Protein 3 4
  • SERPINH2 3 4
  • AsTP3 3 4
  • HSP47 3 4
  • CBP1 3 4
  • CBP2 3 4
  • 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
  • PPROM 3
  • OI10 3
  • Gp46 3

External Ids for SERPINH1 Gene

Previous HGNC Symbols for SERPINH1 Gene

  • CBP1
  • CBP2
  • SERPINH2

Previous GeneCards Identifiers for SERPINH1 Gene

  • GC11U990016
  • GC11P075495
  • GC11P074999
  • GC11P074950
  • GC11P075273
  • GC11P071570

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 Family H Member 1) is a Protein Coding gene. Diseases associated with SERPINH1 include Osteogenesis Imperfecta, Type X and Preterm Premature Rupture Of The Membranes. Among its related pathways are Endochondral Ossification and Collagen biosynthesis and modifying enzymes. GO annotations related to this gene include poly(A) RNA binding and serine-type endopeptidase inhibitor activity. An important paralog of this gene is AGT.

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

Regulatory Elements for SERPINH1 Gene

Enhancers for SERPINH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SERPINH1 on UCSC Golden Path with GeneCards custom track

Promoters for SERPINH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for SERPINH1 Gene

Chromosome:
11
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

Genes around SERPINH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for SERPINH1 Gene

  • Ubiquitination at Lys 39, Lys 94, Lys 319, and Lys 380
  • Glycosylation at Asn 120 and Asn 125
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SERPINH1 Gene

Domains & Families for SERPINH1 Gene

Gene Families for SERPINH1 Gene

Protein Domains for SERPINH1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINH1 Gene

Graphical View of Domain Structure for InterPro Entry

P50454

UniProtKB/Swiss-Prot:

SERPH_HUMAN :
  • Belongs to the serpin family.
Family:
  • Belongs to the serpin family.
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 IEA,TAS --
GO:0005515 protein binding IEA --
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

Human Phenotype Ontology for SERPINH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SERPINH1 Gene

MGI Knock Outs for SERPINH1:

Animal Model Products

CRISPR Products

miRNA for SERPINH1 Gene

miRTarBase miRNAs that target SERPINH1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 5
cytoskeleton 2
plasma membrane 2
cytosol 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 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 IEA --
GO:0005783 endoplasmic reticulum IEA,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 & Interactions 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 1309665
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0030199 collagen fibril organization IEA,IBA --
GO:0032964 collagen biosynthetic process IEA --
genes like me logo Genes that share ontologies with SERPINH1: view

No data available for SIGNOR curated interactions for SERPINH1 Gene

Drugs & Compounds for SERPINH1 Gene

(12) Drugs for SERPINH1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for SERPINH1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for SERPINH1 Gene

This gene is overexpressed in Bone marrow stromal cell (25.3), Fetal ovary (6.9), and Fetal testis (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SERPINH1 Gene



Protein tissue co-expression partners for SERPINH1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SERPINH1 Gene:

SERPINH1

SOURCE GeneReport for Unigene cluster for SERPINH1 Gene:

Hs.596449
genes like me logo Genes that share expression patterns with SERPINH1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SERPINH1 Gene

Orthologs for SERPINH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPINH1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SERPINH1 34
  • 91.23 (n)
  • 96.17 (a)
SERPINH1 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SERPINH1 34
  • 92.62 (n)
  • 98.7 (a)
SERPINH1 35
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Serpinh1 34
  • 89.67 (n)
  • 96.35 (a)
Serpinh1 16
Serpinh1 35
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SERPINH1 34
  • 99.6 (n)
  • 100 (a)
SERPINH1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Serpinh1 34
  • 89.15 (n)
  • 96.09 (a)
oppossum
(Monodelphis domestica)
Mammalia SERPINH1 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SERPINH1 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves SERPINH1 34
  • 76.39 (n)
  • 80.99 (a)
SERPINH1 35
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SERPINH1 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490491 34
  • 73.52 (n)
  • 77.34 (a)
African clawed frog
(Xenopus laevis)
Amphibia hsp47-prov 34
zebrafish
(Danio rerio)
Actinopterygii hsp47 34
serpinh1a 34
  • 69.1 (n)
  • 68.93 (a)
SERPINH1 (2 of 5) 35
  • 32 (a)
OneToMany
SERPINH1 (4 of 5) 35
  • 29 (a)
OneToMany
SERPINH1 (5 of 5) 35
  • 24 (a)
OneToMany
serpinh1a 35
  • 66 (a)
OneToMany
serpinh1b 35
  • 66 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5538 34
fruit fly
(Drosophila melanogaster)
Insecta Spn28D 35
  • 18 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea srp-1 35
  • 25 (a)
OneToMany
srp-2 35
  • 23 (a)
OneToMany
srp-3 35
  • 19 (a)
OneToMany
srp-5 35
  • 28 (a)
OneToMany
srp-6 35
  • 21 (a)
OneToMany
srp-7 35
  • 22 (a)
OneToMany
srp-8 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 21 (a)
OneToOne
Species where no ortholog for SERPINH1 was found in the sources mined by GeneCards:
  • 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

Paralogs for SERPINH1 Gene

Pseudogenes.org Pseudogenes for SERPINH1 Gene

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

Variants for SERPINH1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINH1 Gene

SERPH_HUMAN-P50454
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
rs7105528 - 75,566,470(+) AGGCG(C/G)CCACG reference, missense
rs137853892 Osteogenesis imperfecta 10 (OI10) 75,566,582(+) GTCGC(C/T)AGGGC reference, missense
rs1044610 -- 75,572,603(+) GGCTT(C/T)TGGGC utr-variant-3-prime
rs1044695 -- 75,572,622(+) GTCAA(A/G)AAGCA utr-variant-3-prime
rs1803253 -- 75,572,659(+) TTTTT(G/T)TTTTG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv525193 CNV loss 19592680

Variation tolerance for SERPINH1 Gene

Residual Variation Intolerance Score: 15.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.47; 28.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SERPINH1 Gene

Human Gene Mutation Database (HGMD)
SERPINH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINH1

Disorders for SERPINH1 Gene

MalaCards: The human disease database

(38) MalaCards diseases for SERPINH1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type x
  • osteogenesis imperfecta type x
preterm premature rupture of the membranes
  • preterm premature rupture of the membranes, susceptibility to
serpinh1-related osteogenesis imperfecta
osteogenesis imperfecta, type iii
  • osteogenesis imperfecta type iii
nonspecific interstitial pneumonia
  • nsip
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for SERPINH1

Genetic Association Database (GAD)
SERPINH1
Human Genome Epidemiology (HuGE) Navigator
SERPINH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SERPINH1
genes like me logo Genes that share disorders with SERPINH1: view

No data available for Genatlas for SERPINH1 Gene

Publications for SERPINH1 Gene

  1. 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 46 65
  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 22 65
  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 65
  4. 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 22 65
  5. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C. … Vasiliou V. (Hum. Genomics 2013) 2 3 65

Products for SERPINH1 Gene

Sources for SERPINH1 Gene

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