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SERPINH1 Gene

protein-coding   GIFtS: 64
GCID: GC11P075273

Serpin Peptidase Inhibitor, Clade H (Heat Shock Protein...

(Previous names: serine (or cysteine) proteinase inhibitor, clade H (heat...)
(Previous symbols: CBP1, CBP2, SERPINH2)
Microbiology & Infectious Diseases Congress
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Serpin Peptidase Inhibitor, Clade H (Heat Shock Protein 47), Member 1,
(Collagen Binding Protein 1)1 2
     PPROM2 5
CBP11 2 3 5     Serine (Or Cysteine) Proteinase Inhibitor, Clade H (Heat Shock Protein
47), Member 21
CBP21 2 3 5     RA-A472
SERPINH21 2 3 5     colligin-12
Serine (Or Cysteine) Proteinase Inhibitor, Clade H (Heat Shock Protein
47), Member 1, (Collagen Binding Protein 1)1 2
     colligin-22
Arsenic-Transactivated Protein 32 3     gp462
Cell Proliferation-Inducing Gene 14 Protein2 3     Rheumatoid Arthritis Antigen A-472
Rheumatoid Arthritis-Related Antigen RA-A472 3     Serine (Or Cysteine) Proteinase Inhibitor, Clade H (Heat Shock Protein
47), Member 2, (Collagen-Binding Protein 2)2
47 KDa Heat Shock Protein2 3     Serpin H12
AsTP32 3     Colligin3
HSP472 3     Collagen-Binding Protein3
OI102 5     

External Ids:    HGNC: 15461   Entrez Gene: 8712   Ensembl: ENSG000001492577   OMIM: 6009435   UniProtKB: P504543   

Export aliases for SERPINH1 gene to outside databases

Previous GC identifers: GC11U990016 GC11P075495 GC11P074999 GC11P074950 GC11P071570


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 arthritis, and serpinh1-related osteogenesis imperfecta. GO annotations related to this gene include unfolded protein binding and collagen binding.

UniProtKB/Swiss-Prot: SERPH_HUMAN, P50454
Function: Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen

Gene Wiki entry for SERPINH1 (Heat shock protein 47) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SERPINH1 gene promoter:
         Pax-5   Pax-6   COUP   LCR-F1   HNF-4alpha1   Roaz   Max   COUP-TF   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSERPINH1 promoter sequence
   Search Chromatin IP Primers for SERPINH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SERPINH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.5   Ensembl cytogenetic band:  11q13.5   HGNC cytogenetic band: 11q13.5

SERPINH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERPINH1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P075273:  view genomic region     (about GC identifiers)

Start:
75,273,101 bp from pter      End:
75,283,849 bp from pter
Size:
10,749 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SERPH_HUMAN, P50454 (See protein sequence)
Recommended Name: Serpin H1 precursor  
Size: 418 amino acids; 46441 Da
Secondary accessions: B3KVJ3 P29043 Q5XPB4 Q6NSJ6 Q8IY96 Q9NP88

Explore the universe of human proteins at neXtProt for SERPINH1: NX_P50454

Explore proteomics data for SERPINH1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys39, Lys94, Lys287, Lys319, Lys380
  • Glycosylation2 at Asn120, Asn125
  • Modification sites at PhosphoSitePlus

  • See SERPINH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001193943.1  NP_001226.2  

    ENSEMBL proteins: 
     ENSP00000434657   ENSP00000350894   ENSP00000431384   ENSP00000434964   ENSP00000435936  
     ENSP00000434482   ENSP00000436305   ENSP00000436040   ENSP00000434412   ENSP00000432007  
     ENSP00000431827   ENSP00000435452   ENSP00000437108   ENSP00000433532   ENSP00000436306  
    Reactome Protein details: P50454

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    Novus Biologicals SERPINH1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for SERPINH1
    Browse Proteins at Cloud-Clone Corp.

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    Search for Antibodies for SERPINH1 at Abcam
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    ThermoFisher Antibodies for SERPINH1
    LSBio Antibodies in human, mouse, rat for SERPINH1

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SERPIN: Serine (or cysteine) peptidase inhibitors

    3 InterPro protein domains:
     IPR023795 Serpin_CS
     IPR000215 Serpin_fam
     IPR023796 Serpin_dom

    Graphical View of Domain Structure for InterPro Entry P50454

    ProtoNet protein and cluster: P50454

    1 Blocks protein domain: IPB000215 Serpin

    UniProtKB/Swiss-Prot: SERPH_HUMAN, P50454
    Similarity: Belongs to the serpin family


    SERPINH1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SERPH_HUMAN, P50454
    Function: Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen
    Induction: By heat shock

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IBA--
    GO:0005515protein binding ----
    GO:0005518collagen binding NAS7656593
    GO:0044822poly(A) RNA binding IDA--
    GO:0051082unfolded protein binding IEA--
         
    SERPINH1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SERPINH1:
     Decreased homologous recombina  G0/1 arrest  Increased G1 DNA content 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Serpinh1):
     cardiovascular system  craniofacial  digestive/alimentary  embryogenesis  growth/size/body 
     limbs/digits/tail  mortality/aging  nervous system  respiratory system  skeleton 

    SERPINH1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Serpinh1tm1Kzn for SERPINH1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SERPINH1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SERPINH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SERPINH1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SERPINH1

    miRNA
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    miRTarBase miRNAs that target SERPINH1:
    hsa-mir-484 (MIRT041847), hsa-mir-26b-5p (MIRT029883), hsa-mir-124-3p (MIRT022927)

    Block miRNA regulation of human, mouse, rat SERPINH1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SERPINH1 (see all 9):
    hsa-miR-1266 hsa-miR-561 hsa-miR-3065-3p hsa-miR-3065-5p hsa-miR-29a hsa-miR-29c hsa-miR-3148 hsa-miR-1827
    SwitchGear 3'UTR luciferase reporter plasmidSERPINH1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SERPINH1
    Predesigned siRNA for gene silencing in human, mouse, rat SERPINH1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: SERPINH1 (NM_001235)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SERPINH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPINH1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPINH1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SERPH_HUMAN, P50454: Endoplasmic reticulum lumen
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular3
    cytoskeleton2
    golgi apparatus1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum NAS7656593
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005793endoplasmic reticulum-Golgi intermediate compartment IDA15308636

    SERPINH1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SERPINH1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.75
    Collagen formation0.75
    2Degradation of the extracellular matrix
    Extracellular matrix organization0.34
    3Endochondral Ossification
    Endochondral Ossification

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SERPINH1
        Endochondral Ossification

    1 Reactome Pathway for SERPINH1
        Collagen biosynthesis and modifying enzymes



    SERPINH1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SERPINH1: 
              Osteogenesis in human mouse rat
              Fibrosis in human mouse rat
              Cellular Stress Responses in human mouse rat
              Heat Shock Proteins & Chaperones in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SERPINH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SERPINH1 (P504542, 3 ENSP000003508944) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HMP19Q9Y3282, 3, ENSP000003077224MINT-8270253 I2D: score=2 STRING: ENSP00000307722
    SLC35F6Q8N3572, 3MINT-64648 I2D: score=5 
    CEP70Q8NHQ12, 3MINT-8270231 I2D: score=2 
    FEZ1Q996892, 3MINT-8270242 I2D: score=2 
    CRELD2Q6UXH12, 3MINT-8270220 I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006986response to unfolded protein TAS10023073
    GO:0010951negative regulation of endopeptidase activity IBA--
    GO:0030162regulation of proteolysis IBA--
    GO:0030198extracellular matrix organization TAS--
    GO:0030199collagen fibril organization IEA--

    SERPINH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SERPINH1 (SERPH)

    Selected Novoseek inferred chemical compound relationships for SERPINH1 gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    procollagen 90 123 7629154 (8), 8609177 (7), 7890810 (5), 1577863 (5) (see all 42)
    chlorhexidine gluconate 47.1 6 12911538 (4)
    sodium arsenite 35.7 1 2256819 (1)
    bafilomycin a1 35.3 3 10459042 (1), 8609177 (1)
    monensin 22.6 3 10459042 (1), 8609177 (1)
    proline 7.79 4 8789253 (3), 12114508 (1)
    ascorbic acid 4.41 4 10648804 (2), 8789253 (1), 12163502 (1)
    polyacrylamide 0 2 16129430 (1), 11074940 (1)
    oligonucleotide 0 6 15389525 (3), 12942545 (2)
    atp 0 4 7890810 (3), 2223014 (1)



    SERPINH1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SERPINH1 gene (2 alternative transcripts): 
    NM_001207014.1  NM_001235.3  

    Unigene Cluster for SERPINH1:

    Serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
    Hs.596449  [show with all ESTs]
    Unigene Representative Sequence: NM_001207014
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000533603(uc009yug.3 uc001owr.3) ENST00000358171 ENST00000526242
    ENST00000526397 ENST00000529643 ENST00000525492 ENST00000530284(uc009yuf.3)
    ENST00000532356 ENST00000524558(uc001ows.3) ENST00000528990 ENST00000533449
    ENST00000525611 ENST00000528760 ENST00000525876(uc001owt.3) ENST00000526638

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Selected qRT-PCR Assays for microRNAs that regulate SERPINH1 (see all 9):
    hsa-miR-1266 hsa-miR-561 hsa-miR-3065-3p hsa-miR-3065-5p hsa-miR-29a hsa-miR-29c hsa-miR-3148 hsa-miR-1827
    SwitchGear 3'UTR luciferase reporter plasmidSERPINH1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: SERPINH1 (NM_001235)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPINH1
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SERPINH1
      QuantiTect SYBR Green Assays in human, mouse, rat SERPINH1
      QuantiFast Probe-based Assays in human, mouse, rat SERPINH1

    Additional mRNA sequence: 

    AB044778.1 AB044779.1 AK075504.1 AK094047.1 AK130870.1 AK290124.1 AK297811.1 AK309905.1 
    AY264853.1 AY744367.1 BC014623.2 BC036298.1 BC070087.1 BT007094.1 D83174.1 

    Selected DOTS entries (see all 57):

    DT.85104743  DT.97855428  DT.100771745  DT.100891350  DT.91765156  DT.100891370  DT.100891410  DT.120694869 
    DT.120694845  DT.100808511  DT.100891413  DT.120694876  DT.100891382  DT.91688584  DT.120694722  DT.100891402 
    DT.100891407  DT.120694820  DT.120694750  DT.101985567  DT.120694857  DT.95070372  DT.120694793  DT.120694833 

    Selected AceView cDNA sequences (see all 1093):

    BM472895 AI983469 BG055798 CA429931 CB123399 NM_001235 CB108171 BI871585 
    CB124591 CR601955 AA083759 BU682178 CA428242 CR599889 AA563809 BG236875 
    CN483475 CA454793 BX505701 AW029503 BG253433 AA935685 AL046295 AW275209 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SERPINH1 (see all 11)    About this scheme

    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:        -     -     -     -     -     -     -                                         -                                 


    ECgene alternative splicing isoforms for SERPINH1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SERPINH1 expression in normal human tissues (normalized intensities)      SERPINH1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCCTTTGTT
    SERPINH1 Expression
    About this image


    SERPINH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Periocular Mesenchyme
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Ovary (Reproductive System)
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
     
     Bone (Muscoskeletal System)
             Mandibular Condyle
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    SERPINH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SERPINH1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.596449
        Pathway & Disease-focused RT2 Profiler PCR Arrays including SERPINH1: 
              Osteogenesis in human mouse rat
              Fibrosis in human mouse rat
              Cellular Stress Responses in human mouse rat
              Heat Shock Proteins & Chaperones in human mouse rat

    Primer
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SERPINH1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Serpinh11 , 5 serine (or cysteine) peptidase inhibitor, clade H, more1, 5 89.67(n)1
    96.35(a)1
      7 (54.07 cM)5
    124061  NM_001111043.11  NP_001104513.11 
     993453755 
    chicken
    (Gallus gallus)
    Aves SERPINH11 serpin peptidase inhibitor, clade H (heat shock protein more 76.39(n)
    80.99(a)
      396228  NM_205291.1  NP_990622.1 
    lizard
    (Anolis carolinensis)
    Reptilia SERPINH16
    serpin peptidase inhibitor, clade H (heat shock pr...
    72(a)
    1 ↔ 1
    GL343298.1(714401-718931)
    African clawed frog
    (Xenopus laevis)
    Amphibia hsp47-prov2 heat shock protein 47 77.39(n)    BC044329.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hsp472 heat shock protein 47 73.9(n)   30449  NM_131204.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Spn28D6
    Serpin 28D
    18(a)
    1 ↔ 1
    2L(8004548-8007253)
    worm
    (Caenorhabditis elegans)
    Secernentea srp-56
    srp-16
    (see all 7)
    Protein SRP-1 (srp-1) mRNA, complete cds
    (see all 7)
    28(a)
    25(a)
    (see all 7)
    many → 1
    many → 1
    (see all 7)
    V(7382021-7383309) WBGene00005646
    V(753334-755048) WBGene00005642


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SERPINH1 gene
    17 SIMAP similar genes for SERPINH1 using alignment to 13 protein entries:     SERPH_HUMAN (see all proteins):
    ra-a47    SERPINI1    SERPINB11    SERPINB5    DKFZp686D06190    SERPINB6
    SERPINB8    SERPINB1    SERPINB9    SERPINB12    DKFZp686O07189    SERPINB3
    SERPINB4    SERPINA1    SERPINA5    SERPINA2    SERPINB10

    SERPINH1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SERPINH1
    PGOHUM00000236445


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    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


    Selected SNPs for SERPINH1 (see all 320)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0636024
    Osteogenesis imperfecta 10 (OI10)4--see VAR_0636022 L P mis40--------
    rs71055281,2,,4
    C,Huntested175142687(+) AGGCGG/CCCACG 4 /P /A mis16Minor allele frequency- C:0.00NS EA NA 416
    rs5849611,2
    C,F,Huntested175142800(+) TCGCTG/AGGGCT 4 /L syn127Minor allele frequency- A:0.11NA NS EA WA CSA EU 6700
    rs6502411,2
    C,F,O,A,Huntested175142929(+) AACTCC/GACGGC 4 S syn1 ese328Minor allele frequency- G:0.33MN NA NS EA CSA WA EU 6935
    rs6515811,2
    C,F,O,A,Huntested175143164(+) CCCTGC/TTAGTC 4 L syn129Minor allele frequency- T:0.38EA MN NA NS CSA WA EU 7197
    rs6492571,2
    C,F,O,A,Huntested175145020(+) TATACC/TGTGGG 4 T syn132Minor allele frequency- T:0.33MN EA NA NS WA CSA EU 10300
    rs5858211,2
    C,F,A,Huntested175148056(+) GACTTG/ATCACG 4 /L syn1 ese336Minor allele frequency- A:0.34EA NA NS WA CSA EU 8972
    rs354621481,2
    C--71575116(+) CCTCCTCC/-CAGGA 2 -- cds11Minor allele frequency- -:0.00CSA 2
    rs1851944351,2
    --75136448(+) GGGATG/TACAGG 2 -- us2k10--------
    rs6376761,2
    C,F,A,H--75136590(+) CAGGCG/ATGAGC 2 -- us2k17Minor allele frequency- A:0.29NA WA CSA 14

    HapMap Linkage Disequilibrium report for SERPINH1 (75273101 - 75283849 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SERPINH1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv525193CNV Loss19592680
    nsv897923CNV Loss21882294

    Human Gene Mutation Database (HGMD): SERPINH1
    Locus Specific Mutation Databases (LSDB): SERPINH1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SERPINH1
    DNA2.0 Custom Variant and Variant Library Synthesis for SERPINH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600943   
    OMIM disorders: 610504  613848  
    UniProtKB/Swiss-Prot: SERPH_HUMAN, P50454
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for SERPINH1 (see all 71):    About MalaCards
    arthritis    serpinh1-related osteogenesis imperfecta    osteogenesis imperfecta type x    preterm premature rupture of the membranes
    placenta praevia    funisitis    fibromatosis, gingival    newborn respiratory distress syndrome
    usual interstitial pneumonia    cicatricial pemphigoid    ocular cicatricial pemphigoid    perinatal necrotizing enterocolitis
    osteogenesis imperfecta type iii    fibromatosis    nonspecific interstitial pneumonia    cervical incompetence
    leukomalacia    rheumatoid arthritis    keloids    osteogenesis imperfecta

    14 diseases from the University of Copenhagen DISEASES database for SERPINH1:
    Chorioamnionitis     Oligohydramnios     Funisitis     Placental abruption
    Tropical spastic paraparesis     Newborn respiratory distress syndrome     Adult T-cell leukemia     Spinal cord disease
    Cervical incompetence     Periventricular leukomalacia     Osteogenesis imperfecta     Bacterial vaginosis
    Endometritis     Perinatal necrotizing enterocolitis

    SERPINH1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for SERPINH1 gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    shock 73.1 60 17767059 (2), 16475681 (2), 9588174 (2), 10725279 (2) (see all 52)
    conjunctival scarring 69 4 12657600 (2), 12882790 (1), 12824005 (1)
    fibromatosis, gingival, hereditary 66.9 1 10757112 (1)
    keloid 60.9 38 11162672 (4), 17535221 (4), 17145168 (3), 15574354 (1) (see all 6)
    scars hypertrophic 50.5 1 15704838 (1)
    fibrosis idiopathic pulmonary 39.3 2 17367817 (1), 9872649 (1)
    liver fibrosis 33.9 4 15574354 (1), 17767059 (1), 9524358 (1)
    pulmonary fibrosis 30.6 5 17367817 (2), 15574354 (1), 9872649 (1), 18093617 (1)
    scar 14.5 7 18093850 (3), 15704838 (2), 17169614 (1)
    glomerulonephritis 13 2 9714184 (2)

    Genetic Association Database (GAD): SERPINH1
    Human Genome Epidemiology (HuGE) Navigator: SERPINH1 (5 documents)

    Export disorders for SERPINH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SERPINH1 gene, integrated from 10 sources (see all 215):
    (articles sorted by number of sources associating them with SERPINH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans. (PubMed id 16938879)1, 2, 4 Wang H.... Strauss J.F. III (Proc. Natl. Acad. Sci. U.S.A. 2006)
    2. Isolation, characterization and chromosomal assignment of human colligin-2 gene (CBP2). (PubMed id 7656593)1, 2, 3 Ikegawa S.... Nakamura Y. (Cytogenet. Cell Genet. 1995)
    3. Rheumatoid arthritis-related antigen 47kDa (RA-A47) is a product of colligin-2 and acts as a human HSP47. (PubMed id 11052465)1, 2, 9 Hattori T....Takigawa M. (J. Bone Miner. Metab. 2000)
    4. Cloning of a human collagen-binding protein, and its homology with rat gp46, chick hsp47 and mouse J6 proteins. (PubMed id 1309665)1, 2, 9 Clarke E. and Sandwal B.D. (Biochim. Biophys. Acta 1992)
    5. Update of the human and mouse SERPIN gene superfamily. (PubMed id 24172014)1, 3 Heit C....Vasiliou V. (Hum. Genomics 2013)
    6. Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe). (PubMed id 22021425)1, 4 Carty C.L....Kooperberg C. (Hum. Mol. Genet. 2012)
    7. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PubMed id 20881960)1, 4 Lango Allen H....Hirschhorn J.N. (Nature 2010)
    8. Racial disparity in pathophysiologic pathways of preterm birth based on genetic variants. (PubMed id 19527514)1, 4 Menon R....Thorsen P. (amp 2009)
    9. Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants. (PubMed id 19019335)1, 4 Velez D.R....Menon R. (Am. J. Obstet. Gynecol. 2009)
    10. Preterm birth in Caucasians is associated with coagulation and inflammation pathway gene variants. (PubMed id 18818748)1, 4 Velez D.R....Menon R. (PLoS ONE 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 871 HGNC: 1546 AceView: SERPINH1 Ensembl:ENSG00000149257 euGenes: HUgn871
    ECgene: SERPINH1 H-InvDB: SERPINH1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SERPINH1 Pharmacogenomics, SNPs, Pathways
    Osteogenesis imperfecta variant databasehttp://oi.gene.le.ac.uk/home.php?select_db=SERPINH1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SERPINH1 gene:
    Search GeneIP for patents involving SERPINH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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