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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

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 Collagen chain trimerization and Endochondral Ossification. GO annotations related to this gene include poly(A) RNA binding and serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINB5.

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

Additional gene information for SERPINH1 Gene

No data available for CIViC summary , 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
GH11H075767 1.3 ENCODE dbSUPER 21.4 +206.8 206810 1.9 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 RPS3 EMSY SERPINH1 SNORD15B MOGAT2 RN7SL239P ENSG00000255363 LOC283214 ENSG00000254826
GH11H075398 1.2 ENCODE 14.7 -160.8 -160765 4.8 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 POLD3 KLHL35 RNF169 RPS3 SERPINH1 ENSG00000254460 ENSG00000254630 OR2AT1P LOC283214 UVRAG
GH11H075587 1.2 ENCODE dbSUPER 12.4 +26.9 26865 3.4 PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ELK1 ATF7 NCOA1 ZNF592 SERPINH1 GDPD5 MOGAT2 LOC105369391 MAP6 ENSG00000255434
GH11H075505 1.3 Ensembl ENCODE dbSUPER 11.3 -53.2 -53176 7.5 BCOR HDGF CTCF ATF1 ZSCAN4 ZMYM3 MAX CEBPG EBF1 RAD21 SERPINH1 LOC105369391 GDPD5 LOC105369389 ENSG00000254460
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000264910 744 2001 HDGF PKNOX1 ATF1 ARID4B SIN3A YY1 ETS1 GLIS2 ELK1 ZNF143

Genomic Locations for SERPINH1 Gene

Genomic Locations for SERPINH1 Gene
10,749 bases
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:
    Recommended name:
    Serpin H1
    Protein Accession:
    Secondary Accessions:
    • B3KVJ3
    • P29043
    • Q5XPB4
    • Q6NSJ6
    • Q8IY96
    • Q9NP88

    Protein attributes for SERPINH1 Gene

    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 isoforms=39, isoforms=94, isoforms=319, and isoforms=380
  • Glycosylation at Asn120 and Asn125
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SERPINH1 Gene

Domains & Families for SERPINH1 Gene

Gene Families for SERPINH1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for SERPINH1 Gene

Suggested Antigen Peptide Sequences for SERPINH1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the serpin 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.

Phenotypes From GWAS Catalog for SERPINH1 Gene

Gene Ontology (GO) - Molecular Function for SERPINH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0004867 serine-type endopeptidase inhibitor activity IEA,IBA --
GO:0005518 collagen binding NAS,IEA 7656593
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

miRNA for SERPINH1 Gene

miRTarBase miRNAs that target SERPINH1

Clone 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERPINH1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 2
cytoskeleton 2
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SERPINH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005581 collagen trimer IEA --
GO:0005615 NOT extracellular space IEA,IBA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IDA,NAS 7656593
GO:0005788 endoplasmic reticulum lumen TAS --
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 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:

Clone 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: -
SP9: - - - -
SP10: - - - - - -
SP11: - -

Relevant External Links for SERPINH1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SERPINH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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:


SOURCE GeneReport for Unigene cluster for SERPINH1 Gene:


Evidence on tissue expression from TISSUES for SERPINH1 Gene

  • Nervous system(5)
  • Skin(4.9)
  • Lung(4.8)
  • Liver(4.7)
  • Kidney(4.6)
  • Heart(4.3)
  • Intestine(4.1)
  • Bone(3.3)
  • Pancreas(3.3)
  • Blood(2.7)
  • Muscle(2.6)
  • Eye(2.5)
  • Spleen(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINH1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • tooth
  • vocal cord
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • biliary tract
  • intestine
  • kidney
  • liver
  • stomach
  • pelvis
  • placenta
  • ureter
  • uterus
  • vagina
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SERPINH1: view

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
(Pan troglodytes)
Mammalia SERPINH1 33 34
  • 99.6 (n)
(Canis familiaris)
Mammalia SERPINH1 33 34
  • 92.62 (n)
(Bos Taurus)
Mammalia SERPINH1 33 34
  • 91.23 (n)
(Mus musculus)
Mammalia Serpinh1 33 16 34
  • 89.67 (n)
(Rattus norvegicus)
Mammalia Serpinh1 33
  • 89.15 (n)
(Monodelphis domestica)
Mammalia SERPINH1 34
  • 87 (a)
(Ornithorhynchus anatinus)
Mammalia SERPINH1 34
  • 86 (a)
(Gallus gallus)
Aves SERPINH1 33 34
  • 76.39 (n)
(Anolis carolinensis)
Reptilia SERPINH1 34
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490491 33
  • 73.52 (n)
African clawed frog
(Xenopus laevis)
Amphibia hsp47-prov 33
(Danio rerio)
Actinopterygii serpinh1a 33 34
  • 69.1 (n)
serpinh1b 34
  • 66 (a)
SERPINH1 (2 of 5) 34
  • 32 (a)
SERPINH1 (4 of 5) 34
  • 29 (a)
SERPINH1 (5 of 5) 34
  • 24 (a)
hsp47 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5538 33
fruit fly
(Drosophila melanogaster)
Insecta Spn28D 34
  • 18 (a)
(Caenorhabditis elegans)
Secernentea srp-5 34
  • 28 (a)
srp-1 34
  • 25 (a)
srp-2 34
  • 23 (a)
srp-7 34
  • 22 (a)
srp-6 34
  • 21 (a)
srp-8 34
  • 20 (a)
srp-3 34
  • 19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 21 (a)
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

Gene Tree for SERPINH1 (if available)
Gene Tree for SERPINH1 (if available)

Paralogs for SERPINH1 Gene

Variants for SERPINH1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINH1 Gene

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
rs137853892 Pathogenic, Osteogenesis imperfecta 10 (OI10) [MIM:613848] 75,566,582(+) GTCGC(C/T)AGGGC reference, missense
rs886039819 Pathogenic 75,568,818(+) GATGA(C/T)GCACC reference, missense
rs12978 Likely benign 75,572,573(+) GAGGC(A/G)GATTG utr-variant-3-prime
rs533719133 Likely benign 75,562,086(+) CCGGC(-/A)GAGGG upstream-variant-2KB, utr-variant-5-prime
rs7105575 Likely benign 75,571,775(+) TGTTC(A/C)CACAG intron-variant

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

Disorders for SERPINH1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type x
  • osteogenesis imperfecta type 10
preterm premature rupture of the membranes
  • preterm premature rupture of membranes
serpinh1-related osteogenesis imperfecta
osteogenesis imperfecta, type iii
  • osteogenesis imperfecta type 3
gingival fibromatosis
  • hereditary gingival fibromatosis
- elite association - COSMIC cancer census association via MalaCards


  • 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)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 JF (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 45 60
  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 (Journal of bone and mineral metabolism 2000) 3 4 22 60
  3. Isolation, characterization and chromosomal assignment of human colligin-2 gene (CBP2). (PMID: 7656593) Ikegawa S … Nakamura Y (Cytogenetics and cell genetics 1995) 2 3 4 60
  4. Cloning of a human collagen-binding protein, and its homology with rat gp46, chick hsp47 and mouse J6 proteins. (PMID: 1309665) Clarke EP … Sanwal BD (Biochimica et biophysica acta 1992) 3 4 22 60
  5. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C … Vasiliou V (Human genomics 2013) 2 3 60

Products for SERPINH1 Gene

Sources for SERPINH1 Gene

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