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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)
 Explore 65 diseases affiliated with
SERPINH1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SERPINH1    

Aliases
for SERPINH1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Serpin Peptidase Inhibitor, Clade H (Heat Shock Protein 47), Member 1,
(Collagen Binding Protein 1)1 2
     Colligen1
CBP21 2 3 5     Serine (Or Cysteine) Proteinase Inhibitor, Clade H (Heat Shock Protein 47),
Member 21
SERPINH21 2 3 5     OI102
CBP11 2 3     RA-A472
HSP471 2 3     Colligin-11
Serine (Or Cysteine) Proteinase Inhibitor, Clade H (Heat Shock Protein 47),
Member 1, (Collagen Binding Protein 1)1 2
     Colligin-21
Arsenic-Transactivated Protein 32 3     Gp461
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
PPROM2 5     Collagen-Binding Protein3

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


Summaries
for SERPINH1 gene

(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:
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)

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)


Genomic Views
for SERPINH1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
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 plasmid: SERPINH1 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:
 75,283,846 bp from pter
Size:
 10,746 bases      Orientation:
 plus strand

Proteins
for SERPINH1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P50454

    • SERPINH1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Enzo Life Sciences proteins for SERPINH1
    OriGene Purified Protein: SERPINH1
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    Novus Biologicals SERPINH1 Proteins
    Novus Biologicals SERPINH1 Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for SERPINH1
    Uscn Proteins for SERPINH1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005581collagen ----
    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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    Abcam antibodies for SERPINH1 
    Uscn Antibodies for SERPINH1
    ThermoFisher Antibodies for SERPINH1

    Assay Products for SERPINH1: 
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    Uscn ELISAs and CLIAs for SERPINH1

    Protein Domains /
    Families
    for SERPINH1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SERPINH1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB000215 Serpin

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


    Function
    for SERPINH1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

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

    miRNA
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    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 plasmid: SERPINH1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SERPINH1 (see all 7)
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    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for SERPINH1

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

    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


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

    Animal Models:
         Mouse knock-out Serpinh1tm1Kzn for SERPINH1
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Serpinh1):
     embryogenesis  mortality/aging  nervous system 

    SERPINH1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SERPINH1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Collagen formation
    		Collagen formation1.00
    		Extracellular matrix organization0.54
    		Collagen biosynthesis and modifying enzymes0.74
    		Secretion of collagens0.49
    2Endochondral Ossification
    		Endochondral Ossification1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for SERPINH1 
        Endochondral Ossification

    4        Reactome Pathways for SERPINH1
        Extracellular matrix organization
    Secretion of collagens
    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)

    5/46 Interacting proteins for SERPINH1 (P504542, 3 ENSP000003508944) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    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 TAS1309665
    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



    Drugs & Compounds
    for SERPINH1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    10/16 Novoseek 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 

    Transcripts
    for SERPINH1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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


    miRNA
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    8/9 QIAGEN miScript miRNA 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 plasmid: SERPINH1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SERPINH1 (see all 7)
    Browse OriGene siRNA
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SERPINH1
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    Additional cDNA 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):

    AI204697 BQ676996 BU628217 BG055798 CB123399 CR622741 AI313366 AL046295 
    BI759603 CR590010 CN483475 AI829909 CR620506 AW069662 CA446046 AW102837 
    BU616456 CR625032 BI871585 AI144387 BM772956 BM837755 AA719888 AA613547 

    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

    Expression
    for SERPINH1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCCTTTGTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SERPINH1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneMandibular CondyleBone
    BoneMandibular FossaBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    Extraembryonic endoderm-like cells (Generation of extrae...)

    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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    In Situ
    Assay Products:     
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    Orthologs
    for SERPINH1 gene

    (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 eukaryotes.

    Orthologs for SERPINH1 gene from 8/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 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 Spn26
    Spn16
    (see all 25)    		 Serine protease inhibitor 1
    (see all 25)    		 25(a)
    23(a)
    (see all 25)    		 possible ortholog
    possible ortholog
    (see all 25)    		 2L(8240414-8241800)
    2R(2770786-2772378)
    worm
    (Caenorhabditis elegans)    		 Secernentea srp-16
    srp-26
    (see all 6)    		 SeRPin family member (srp-2)
    (see all 6)    		 23(a)
    19(a)
    (see all 6)    		 possible ortholog
    possible ortholog
    (see all 6)    		 V(753335-755049)
    V(762735-764658)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT2G263906
    AT3G452206
    (see all 10)    		 serpin-Z4
    (see all 10)    		 19(a)
    19(a)
    (see all 10)    		 many ↔ many
    many ↔ many
    (see all 10)    		 2(11229087-11230491)
    3(16564881-16566330)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 16)    		 serpin domain containing protein, putative
    (see all 16)    		 21(a)
    20(a)
    (see all 16)    		 many ↔ many
    many ↔ many
    (see all 16)    		 3(23053071-23066803)
    11(7415381-7416754)


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

    Paralogs
    for SERPINH1 gene

    (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  SERPINA52  
    SERPINF12  SERPIND12  SERPINA42  SERPINA32  SERPINA62  SERPINF22  
    17 SIMAP similar genes for SERPINH1 using alignment to 13 protein entries:     SERPH_HUMAN (see all proteins):
    ra-a47    SERPINF1    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


    Genomic Variants
    for SERPINH1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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


    10/255 NCBI SNPs in SERPINH1 are shown (see all 255)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs5849611,2
    		C,F,H,untested75277628(+) TCGCTG/AGGGCT 4 /L syn127Minor allele frequency- A:0.11NA NS EA WA CSA EU 6700
    rs6502411,2
    		C,F,O,A,H,untested75277757(+) AACTCC/GACGGC 4 S syn1 ese328Minor allele frequency- G:0.33MN NA NS EA CSA WA EU 6935
    rs5858211,2
    		C,F,A,H,untested96371315(+) GACTTG/ATCACG 4 /L syn1 ese336Minor allele frequency- A:0.34EA NA NS WA CSA EU 8972
    rs6492571,2
    		C,F,O,A,H,untested96374351(+) TATACC/TGTGGG 4 T syn132Minor allele frequency- T:0.33MN EA NA NS WA CSA EU 10300
    rs6515811,2
    		C,F,O,A,H,untested96376204(+) CCCTGC/TTAGTC 4 L syn129Minor allele frequency- T:0.38EA MN NA NS CSA WA EU 7197
    rs71055281,2
    		C,Huntested96376681(+) AGGCGG/CCCACG 4 /P /A mis16Minor allele frequency- C:0.00NS EA NA 416
    rs20823451,2
    		C,H,--71568559(+) GGAAGC/TACATG 2 -- us2k15Minor allele frequency- T:0.02NS EA WA 526
    rs71112651,2
    		C,--71568734(+) GAGGGC/TTTCTG 2 -- us2k12Minor allele frequency- T:0.03CSA WA 120
    rs38628031,2
    		C,F,H,--71568892(+) TGGAAG/ATAATC 2 -- us2k15Minor allele frequency- A:0.03NS EA WA 526
    rs6406491,2
    		C,F,O,A,H,--71568932(-) AAAAGC/TTTCAG 2 -- us2k122Minor allele frequency- T:0.06NS EA NA 2726

    HapMap Linkage Disequilibrium report for SERPINH1 (75273101 - 75283846 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SERPINH1: --
    Human Gene Mutation Database (HGMD): SERPINH1

    Locus Specific Mutation Databases (LSDB): SERPINH1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SERPINH1
    DNA2.0 Custom Variant and Variant Library Synthesis for SERPINH1

    Disorders / Diseases
    for SERPINH1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SERPINH1 for disorders           About GeneDecksing

    OMIM gene information: 600943   
    OMIM disorders: 610504  
    UniProtKB/Swiss-Prot: SERPH_HUMAN, P50454
  • Defects in SERPINH1 are the cause of osteogenesis imperfecta type 10 (OI10) [MIM:613848]. A connective tissue
    • disorder characterized by bone fragility, low bone mass, bowing of limbs due to multiple fractures, short limb
    dwarfism and blue sclerae

    20/65 diseases for SERPINH1 (see all 65):    About MalaCards
    rheumatoid arthritis    preterm premature rupture of the membranes    arthritis    perinatal necrotizing enterocolitis
    epidermolysis bullosa acquisita    newborn respiratory distress syndrome    ocular cicatricial pemphigoid    cicatricial pemphigoid
    spinal cord disease    epidermolysis bullosa    placenta praevia    tropical spastic paraparesis
    mixed connective tissue disease    dupuytren contracture    usual interstitial pneumonia    connective tissue disease
    periventricular leukomalacia    nonspecific interstitial pneumonia    spastic paraparesis    fibromatosis, gingival

    14 diseases from the University of Copenhagen DISEASES database for SERPINH1:
    Chorioamnionitis     Oligohydramnios     Placental abruption     Funisitis
    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

    10/23 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: SERPINH1 (5 documents)

    Export disorders for SERPINH1 gene to outside databases

    Publications
    for SERPINH1 gene

    (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 202):
    (articles sorted by number of sources associating them with SERPINH1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation, characterization and chromosomal assignment of human colligin-2 gene (CBP2). (PubMed id 7656593)1, 2, 3 Ikegawa S.... Nakamura Y. (1995)
    2. 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)
    3. 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)
    4. 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 Wang H.... Strauss J.F. III (2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Detailed map of a region commonly amplified at 11q13-->q14 in human breast carcinoma. (PubMed id 9533029)1, 3 Bekri S....Gaudray P. (1997)
    8. Expression of HSP47, a collagen-specific chaperone, in normal and diseased human liver. (PubMed id 15806139)1, 9 Brown K.E....Schmidt W.N. (2005)
    9. Downregulation of rheumatoid arthritis-related antigen RA-A47 (HSP47/colligin-2) in chondrocytic cell lines induces apoptosis and cell-surface expression of RA-A47 in association with CD9. (PubMed id 15389525)1, 9 Hattori T....Takigawa M. (2005)
    10. Expression sites of colligin 2 in glioma blood vessel s. (PubMed id 19067716)1, 9 Mustafa D....Kros J.M. (2010)

    External Searches for SERPINH1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SERPINH1 gene

    (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

    Other Databases showing SERPINH1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SERPINH1 gene

    (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

    Intellectual Property
    for SERPINH1 gene

    (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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