Human Gene SERPINH1 (ENST00000358171.8_6) from GENCODE V47lift37
  Description: serpin family H member 1, transcript variant 2 (from RefSeq NM_001235.5)
Gencode Transcript: ENST00000358171.8_6
Gencode Gene: ENSG00000149257.16_17
Transcript (Including UTRs)
   Position: hg19 chr11:75,273,298-75,283,828 Size: 10,531 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr11:75,277,395-75,283,128 Size: 5,734 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:75,273,298-75,283,828)mRNA (may differ from genome)Protein (418 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SERPH_HUMAN
DESCRIPTION: RecName: Full=Serpin H1; AltName: Full=47 kDa heat shock protein; AltName: Full=Arsenic-transactivated protein 3; Short=AsTP3; AltName: Full=Cell proliferation-inducing gene 14 protein; AltName: Full=Collagen-binding protein; Short=Colligin; AltName: Full=Rheumatoid arthritis-related antigen RA-A47; Flags: Precursor;
FUNCTION: Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen.
INDUCTION: By heat shock.
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.
DISEASE: 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.
SIMILARITY: Belongs to the serpin family.
WEB RESOURCE: Name=Osteogenesis imperfecta variant database; Note=Serpin H1 (SERPINH1); URL="http://oi.gene.le.ac.uk/home.php?select_db=SERPINH1";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SERPINH1
Diseases sorted by gene-association score: osteogenesis imperfecta, type x* (1300), preterm premature rupture of the membranes* (950), serpinh1-related osteogenesis imperfecta* (200), osteogenesis imperfecta, type iii* (106), gingival fibromatosis (18), nonspecific interstitial pneumonia (16), osteogenesis imperfecta (14), uterine disease (14), ocular cicatricial pemphigoid (13), cervical incompetence (12), female reproductive system disease (11), hydranencephaly (10), cervix disease (9), placenta praevia (9), cicatricial pemphigoid (9), reproductive system disease (8), encephalomalacia (8), neonatal myasthenia gravis (7), funisitis (7), endometrial disease (7), neonatal anemia (7), placenta disease (7), rheumatoid arthritis (7), diffuse pulmonary fibrosis (6), dupuytren contracture (6), spinal cord disease (6), vaginal disease (6), perinatal necrotizing enterocolitis (6), metaphyseal chondrodysplasia, schmid type (5), endocardium disease (5), oligohydramnios (5), newborn respiratory distress syndrome (5), arthritis (5), vaginitis (5), bruck syndrome (4), exudative vitreoretinopathy 1 (4), connective tissue disease (2), pulmonary fibrosis, idiopathic (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 174.81 RPKM in Cells - Cultured fibroblasts
Total median expression: 1116.71 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -30.40101-0.301 Picture PostScript Text
3' UTR -241.50700-0.345 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023795 - Protease_inhib_I4_serpin_CS
IPR023796 - Serpin_dom
IPR000215 - Serpin_fam

Pfam Domains:
PF00079 - Serpin (serine protease inhibitor)

SCOP Domains:
56574 - Serpins

ModBase Predicted Comparative 3D Structure on P50454
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0005518 collagen binding
GO:0051082 unfolded protein binding

Biological Process:
GO:0003433 chondrocyte development involved in endochondral bone morphogenesis
GO:0006986 response to unfolded protein
GO:0010951 negative regulation of endopeptidase activity
GO:0030199 collagen fibril organization
GO:0032964 collagen biosynthetic process
GO:0051604 protein maturation

Cellular Component:
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0045121 membrane raft
GO:0005615 extracellular space


-  Descriptions from all associated GenBank mRNAs
  X61598 - H.sapiens mRNA for colligin (a collagen-binding protein).
AK290124 - Homo sapiens cDNA FLJ78501 complete cds, highly similar to Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (SERPINH1), mRNA.
HW639928 - JP 2014519516-A/1: RETINOID-LIPOSOMES FOR ENHANCING MODULATION OF HSP47 EXPRESSION.
HW799524 - JP 2014529328-A/1: COMPOUNDS FOR TARGETING DRUG DELIVERY AND ENHANCING SIRNA ACTIVITY.
JB074640 - Sequence 1 from Patent WO2012170952.
JB226102 - Sequence 1 from Patent EP2509991.
LF648330 - JP 2016153477-A/1: COMPOUNDS FOR TARGETING DRUG DELIVERY AND ENHANCING SIRNA ACTIVITY.
LQ264969 - Sequence 1 from Patent EP3012324.
LQ297475 - Sequence 1 from Patent EP2998289.
MA269005 - JP 2018065804-A/1: COMPOUNDS FOR TARGETING DRUG DELIVERY AND ENHANCING SIRNA ACTIVITY.
MA348953 - JP 2018070555-A/1: AGENT FOR TREATING SKIN FIBROSIS.
MA356357 - WO 2018084168-A/1: AGENT FOR TREATING SKIN FIBROSIS.
LF207787 - JP 2014500723-A/15290: Polycomb-Associated Non-Coding RNAs.
AK297811 - Homo sapiens cDNA FLJ52569 complete cds, highly similar to Collagen-binding protein 2 precursor.
AK309905 - Homo sapiens cDNA, FLJ99946.
AK130870 - Homo sapiens cDNA FLJ27360 fis, clone UBA01491, highly similar to Collagen-binding protein 2 precursor.
BC070087 - Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1), mRNA (cDNA clone MGC:87465 IMAGE:5274406), complete cds.
BC014623 - Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1), mRNA (cDNA clone MGC:4258 IMAGE:3030138), complete cds.
D83174 - Homo sapiens mRNA for collagen binding protein 2, complete cds.
AY264853 - Homo sapiens proliferation-inducing gene 14 (PIG14) mRNA, complete cds.
BC036298 - Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1), mRNA (cDNA clone MGC:25195 IMAGE:4748644), complete cds.
JD210996 - Sequence 192020 from Patent EP1572962.
AK122936 - Homo sapiens cDNA FLJ16630 fis, clone TESTI4019756, highly similar to Collagen-binding protein 2 precursor.
AK131503 - Homo sapiens cDNA FLJ16712 fis, clone UTERU2032279.
AY744367 - Homo sapiens arsenic-transactivated protein 3 mRNA, complete cds.
AK075504 - Homo sapiens cDNA PSEC0202 fis, clone HEMBA1002307, highly similar to COLLAGEN-BINDING PROTEIN 2 PRECURSOR.
AB529131 - Synthetic construct DNA, clone: pF1KB5005, Homo sapiens SERPINH1 gene for serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, without stop codon, in Flexi system.
KJ896546 - Synthetic construct Homo sapiens clone ccsbBroadEn_05940 SERPINH1 gene, encodes complete protein.
AB044778 - Homo sapiens mRNA for rheumatoid arthritis related antigen RA-A47, complete cds, cell type:chondrocyte.
AB044779 - Homo sapiens mRNA for rheumatoid arthritis related antigen RA-A47, complete cds, cell type:periodontal ligament.
BT007094 - Homo sapiens serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2 mRNA, complete cds.
HW251417 - JP 2013514761-A/58: MODULATION OF HSP47 EXPRESSION.
HZ047150 - JP 2015109851-A/58: MODULATION OF HSP47 EXPRESSION.
JB226160 - Sequence 59 from Patent EP2509991.
LF629395 - JP 2016127853-A/58: MODULATION OF HSP47 EXPRESSION.
LG135499 - KR 1020120120931-A/59: MODULATION OF hsp47 EXPRESSION.
LG172091 - KR 1020150140879-A/59: MODULATION OF hsp47 EXPRESSION.
LQ265027 - Sequence 59 from Patent EP3012324.
LY481351 - KR 1020170003724-A/59: MODULATION OF hsp47 EXPRESSION.
LF369132 - JP 2014500723-A/176635: Polycomb-Associated Non-Coding RNAs.
JD023376 - Sequence 4400 from Patent EP1572962.
LF369131 - JP 2014500723-A/176634: Polycomb-Associated Non-Coding RNAs.
JD030246 - Sequence 11270 from Patent EP1572962.
LF369130 - JP 2014500723-A/176633: Polycomb-Associated Non-Coding RNAs.
JD020275 - Sequence 1299 from Patent EP1572962.
JD028848 - Sequence 9872 from Patent EP1572962.
LF369129 - JP 2014500723-A/176632: Polycomb-Associated Non-Coding RNAs.
AK094047 - Homo sapiens cDNA FLJ36728 fis, clone UTERU2012333, highly similar to 47 KDA HEAT SHOCK PROTEIN PRECURSOR.
LF369127 - JP 2014500723-A/176630: Polycomb-Associated Non-Coding RNAs.
LF369126 - JP 2014500723-A/176629: Polycomb-Associated Non-Coding RNAs.
LF369125 - JP 2014500723-A/176628: Polycomb-Associated Non-Coding RNAs.
LF369124 - JP 2014500723-A/176627: Polycomb-Associated Non-Coding RNAs.
JD026919 - Sequence 7943 from Patent EP1572962.
LF369123 - JP 2014500723-A/176626: Polycomb-Associated Non-Coding RNAs.
JD033666 - Sequence 14690 from Patent EP1572962.
LF369122 - JP 2014500723-A/176625: Polycomb-Associated Non-Coding RNAs.
JD349284 - Sequence 330308 from Patent EP1572962.
JD131863 - Sequence 112887 from Patent EP1572962.
JD452801 - Sequence 433825 from Patent EP1572962.
JD071463 - Sequence 52487 from Patent EP1572962.
LF369121 - JP 2014500723-A/176624: Polycomb-Associated Non-Coding RNAs.
JD247335 - Sequence 228359 from Patent EP1572962.
JD444223 - Sequence 425247 from Patent EP1572962.
JD141224 - Sequence 122248 from Patent EP1572962.
LF369120 - JP 2014500723-A/176623: Polycomb-Associated Non-Coding RNAs.
JD493637 - Sequence 474661 from Patent EP1572962.
JD371624 - Sequence 352648 from Patent EP1572962.
LF369119 - JP 2014500723-A/176622: Polycomb-Associated Non-Coding RNAs.
JD146601 - Sequence 127625 from Patent EP1572962.
JD199990 - Sequence 181014 from Patent EP1572962.
JD156238 - Sequence 137262 from Patent EP1572962.
JD473749 - Sequence 454773 from Patent EP1572962.
JD473750 - Sequence 454774 from Patent EP1572962.
JD401116 - Sequence 382140 from Patent EP1572962.
JD044439 - Sequence 25463 from Patent EP1572962.
JD218666 - Sequence 199690 from Patent EP1572962.
JD360827 - Sequence 341851 from Patent EP1572962.
LF369118 - JP 2014500723-A/176621: Polycomb-Associated Non-Coding RNAs.
MA604709 - JP 2018138019-A/176635: Polycomb-Associated Non-Coding RNAs.
MA604708 - JP 2018138019-A/176634: Polycomb-Associated Non-Coding RNAs.
MA604707 - JP 2018138019-A/176633: Polycomb-Associated Non-Coding RNAs.
MA604706 - JP 2018138019-A/176632: Polycomb-Associated Non-Coding RNAs.
MA604704 - JP 2018138019-A/176630: Polycomb-Associated Non-Coding RNAs.
MA604703 - JP 2018138019-A/176629: Polycomb-Associated Non-Coding RNAs.
MA604702 - JP 2018138019-A/176628: Polycomb-Associated Non-Coding RNAs.
MA604701 - JP 2018138019-A/176627: Polycomb-Associated Non-Coding RNAs.
MA604700 - JP 2018138019-A/176626: Polycomb-Associated Non-Coding RNAs.
MA604699 - JP 2018138019-A/176625: Polycomb-Associated Non-Coding RNAs.
MA604698 - JP 2018138019-A/176624: Polycomb-Associated Non-Coding RNAs.
MA604697 - JP 2018138019-A/176623: Polycomb-Associated Non-Coding RNAs.
MA604696 - JP 2018138019-A/176622: Polycomb-Associated Non-Coding RNAs.
MA604695 - JP 2018138019-A/176621: Polycomb-Associated Non-Coding RNAs.
MA443364 - JP 2018138019-A/15290: Polycomb-Associated Non-Coding RNAs.
LY644035 - KR 1020180134424-A/1: COMPOUNDS FOR TARGETING DRUG DELIVERY AND ENHANCING siRNA ACTIVITY.
LY644040 - KR 1020180134425-A/1: COMPOUNDS FOR TARGETING DRUG DELIVERY AND ENHANCING siRNA ACTIVITY.
MC003609 - WO 2020040185-A/1: Enhancement of chemotherapeutic agent susceptibility which used the inhibitor of HSP47.
MC003618 - WO 2020040186-A/1: Cancer metastasis control of using inhibitor of HSP47.
MP316471 - Sequence 1 from Patent EP3536343.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P50454 (Reactome details) participates in the following event(s):

R-HSA-2022073 Procollagen triple helix formation
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-1474290 Collagen formation
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: B3KVJ3, CBP1, CBP2, ENST00000358171.1, ENST00000358171.2, ENST00000358171.3, ENST00000358171.4, ENST00000358171.5, ENST00000358171.6, ENST00000358171.7, HSP47, NM_001235, P29043, P50454, PIG14, Q5XPB4, Q6NSJ6, Q8IY96, Q9NP88, SERPH_HUMAN, SERPINH2, uc318aks.1, uc318aks.2
UCSC ID: ENST00000358171.8_6
RefSeq Accession: NM_001235.5
Protein: P50454 (aka SERPH_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.