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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
About This Section

Aliases
Serpin Peptidase Inhibitor, Clade H (Heat Shock Protein 47), Member 1,
(Collagen Binding Protein 1)1 2
     Serine (Or Cysteine) Proteinase Inhibitor, Clade H (Heat Shock Protein
47), Member 21
CBP21 2 3 5     OI102
SERPINH21 2 3 5     RA-A472
CBP11 2 3     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
PPROM2 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 rheumatoid arthritis, and arthritis, and among its related super-pathways are Collagen formation. GO annotations related to this gene include unfolded protein binding and collagen binding. An important paralog of this gene is SERPING1.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SERPINH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SERPH_HUMAN, P50454 (See protein sequence)
Recommended Name: Serpin H1 precursor  
Size: 418 amino acids; 46441 Da
Subcellular location: Endoplasmic reticulum lumen
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P50454

  • SERPINH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

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

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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



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

    3 InterPro protein domains:
     IPR023795 Protease_inhib_I4_serpin_CS
     IPR023796 Serpin_dom
     IPR000215 Serpin_fam

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004867serine-type endopeptidase inhibitor activity IBA--
    GO:0005515protein binding ----
    GO:0005518collagen binding NAS7656593
    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 
     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 - Custom generated mouse model solutions for SERPINH1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SERPINH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SERPINH1 
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    SwitchGear 3'UTR luciferase reporter plasmidSERPINH1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SERPINH1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.74
    Extracellular matrix organization0.39
    Collagen formation0.74
    2Endochondral Ossification
    Endochondral Ossification

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SERPINH1
        Endochondral Ossification

    3        Reactome Pathways for SERPINH1
        Extracellular matrix organization
    Collagen biosynthesis and modifying enzymes
    Collagen formation



    SERPINH1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SERPINH1

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

    5/52 Interacting proteins for SERPINH1 (P504542, 3 ENSP000003508944) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    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): 5/7 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SERPINH1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SERPINH1 (SERPH)

    10/16 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)

    Search CenterWatch for drugs/clinical trials and news about SERPINH1 / SERPH

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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 

    24/57 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 

    24/1093 AceView cDNA sequences (see all 1093):

    NM_001235 AI186833 BM972616 BQ676317 BQ878782 AI144387 BX505701 BI835178 
    BG253433 AA302443 AI336074 AL046295 AA330924 BM772956 AA062806 BU682178 
    BQ676996 CR590753 CR615994 AI445549 CR622404 CB131524 AW950609 AI204251 

    GeneLoc Exon Structure

    5/11 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/8 selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Thalamus
             Septum   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Bone (Muscoskeletal System)
             Mandibular Condyle
     
     Heart (Cardiovascular System)
             Cardiac Myocytes   
     
     Adipose (Muscoskeletal System)
             Adipocyte   

    See SERPINH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SERPINH1

    SOURCE GeneReport for Unigene cluster: Hs.596449
        SABiosciences Expression via Pathway-Focused 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

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SERPINH1 gene from 6/13 species (see all 13)    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 88.97(n)1
    94.96(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 75.66(n)
    80.15(a)
      396228  NM_205291.1  NP_990622.1 
    lizard
    (Anolis carolinensis)
    Reptilia SERPINH16
    Uncharacterized protein
    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 Spn43Ab6
    Spn43Ad6
    (see all 4)
    Spn43Ad
    (see all 4)
    22(a)
    21(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    2R(3039170-3041188)
    2R(3041242-3042927)


    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)
    About This Section
    Paralogs for SERPINH1 gene
    SERPING12  SERPINA12  SERPINA102  SERPINA112  SERPINA72  SERPINA122  SERPINA92  SERPINF12  
    SERPINA52  SERPIND12  SERPINA42  SERPINA62  SERPINA32  SERPINF22  
    16 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    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: SERPH_HUMAN, P50454
    Polymorphism: 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


    10/320 SNPs in SERPINH1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    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.)
    About This Section
    OMIM gene information: 600943   
    OMIM disorders: 610504  
    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

  • 20/66 diseases for SERPINH1 (see all 66):    About MalaCards
    rheumatoid arthritis    arthritis    preterm premature rupture of the membranes    serpinh1-related osteogenesis imperfecta
    osteogenesis imperfecta type x    funisitis    fibromatosis, gingival    placenta praevia
    newborn respiratory distress syndrome    cicatricial pemphigoid    ocular cicatricial pemphigoid    usual interstitial pneumonia
    cervical incompetence    perinatal necrotizing enterocolitis    fibromatosis    nonspecific interstitial pneumonia
    leukomalacia    keloids    periventricular leukomalacia    epidermolysis bullosa acquisita

    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

    10/23 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)
    About This Section

    PubMed articles for SERPINH1 gene, integrated from 9 sources (see all 213):
    (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 (2006)
    2. Isolation, characterization and chromosomal assignment of human colligin-2 gene (CBP2). (PubMed id 7656593)1, 2, 3 Ikegawa S.... Nakamura Y. (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. (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. (1992)
    5. Genome-wide association study of body height in Africa n Americans: the Women's Health Initiative SNP Health Association Resource (SHAR e). (PubMed id 22021425)1, 4 Carty C.L....Kooperberg C. (2012)
    6. Hundreds of variants clustered in genomic loci and bi ological pathways affect human height. (PubMed id 20881960)1, 4 Lango Allen H....Hirschhorn J.N. (2010)
    7. Racial disparity in pathophysiologic pathways of pret erm birth based on genetic variants. (PubMed id 19527514)1, 4 Menon R....Thorsen P. (2009)
    8. Preterm birth in Caucasians is associated with coagulation and inflammation pathway gene variants. (PubMed id 18818748)1, 4 Velez D.R....Menon R. (2008)
    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. (2008)
    10. 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. (PubMed id 18205191)1, 4 Wang H....Strauss J.F. (2008)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 871 HGNC: 1546 AceView: SERPINH1 Ensembl:ENSG00000149257 euGenes: HUgn871
    ECgene: SERPINH1 H-InvDB: SERPINH1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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