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Protein

Serpin H1

Gene

SERPINH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei377 – 378Reactive bond homologBy similarity2

GO - Molecular functioni

  • collagen binding Source: UniProtKB
  • poly(A) RNA binding Source: UniProtKB
  • serine-type endopeptidase inhibitor activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Chaperone

Keywords - Biological processi

Stress response

Enzyme and pathway databases

BioCyciZFISH:ENSG00000149257-MONOMER.
ReactomeiR-HSA-1650814. Collagen biosynthesis and modifying enzymes.

Protein family/group databases

MEROPSiI04.035.

Names & Taxonomyi

Protein namesi
Recommended name:
Serpin H1
Alternative name(s):
47 kDa heat shock protein
Arsenic-transactivated protein 3
Short name:
AsTP3
Cell proliferation-inducing gene 14 protein
Collagen-binding protein
Short name:
Colligin
Rheumatoid arthritis-related antigen RA-A47
Gene namesi
Name:SERPINH1
Synonyms:CBP1, CBP2, HSP47, SERPINH2
ORF Names:PIG14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:1546. SERPINH1.

Subcellular locationi

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum-Golgi intermediate compartment Source: UniProtKB
  • endoplasmic reticulum lumen Source: Reactome
  • extracellular exosome Source: UniProtKB
  • membrane raft Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Osteogenesis imperfecta 10 (OI10)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613848
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06360278L → P in OI10. 1 PublicationCorresponds to variant rs137853892dbSNPEnsembl.1

Keywords - Diseasei

Osteogenesis imperfecta

Organism-specific databases

DisGeNETi871.
MalaCardsiSERPINH1.
MIMi610504. phenotype.
613848. phenotype.
OpenTargetsiENSG00000149257.
Orphaneti216812. Osteogenesis imperfecta type 3.
PharmGKBiPA35034.

Chemistry databases

ChEMBLiCHEMBL5286.

Polymorphism and mutation databases

BioMutaiSERPINH1.
DMDMi20141241.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000003252019 – 418Serpin H1Add BLAST400

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei94N6-succinyllysineBy similarity1
Glycosylationi120N-linked (GlcNAc...)Sequence analysis1
Glycosylationi125N-linked (GlcNAc...)Sequence analysis1
Modified residuei141PhosphoserineCombined sources1
Modified residuei207N6-acetyllysineBy similarity1
Modified residuei296N6-succinyllysineBy similarity1
Modified residuei319N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP50454.
MaxQBiP50454.
PaxDbiP50454.
PeptideAtlasiP50454.
PRIDEiP50454.
TopDownProteomicsiP50454.

2D gel databases

DOSAC-COBS-2DPAGEP50454.
UCD-2DPAGEP50454.

PTM databases

iPTMnetiP50454.
PhosphoSitePlusiP50454.
SwissPalmiP50454.
UniCarbKBiP50454.

Expressioni

Inductioni

By heat shock.

Gene expression databases

BgeeiENSG00000149257.
CleanExiHS_SERPINH1.
ExpressionAtlasiP50454. baseline and differential.
GenevisibleiP50454. HS.

Organism-specific databases

HPAiCAB004441.
HPA029198.

Interactioni

GO - Molecular functioni

  • collagen binding Source: UniProtKB

Protein-protein interaction databases

BioGridi107318. 85 interactors.
IntActiP50454. 18 interactors.
MINTiMINT-3018432.
STRINGi9606.ENSP00000350894.

Chemistry databases

BindingDBiP50454.

Structurei

3D structure databases

ProteinModelPortaliP50454.
SMRiP50454.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi415 – 418Prevents secretion from ERPROSITE-ProRule annotation4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi25 – 29Poly-Ala5

Sequence similaritiesi

Belongs to the serpin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG2392. Eukaryota.
COG4826. LUCA.
GeneTreeiENSGT00850000132337.
HOVERGENiHBG104930.
InParanoidiP50454.
KOiK09501.
OMAiNYEHSKI.
OrthoDBiEOG091G08O0.
PhylomeDBiP50454.
TreeFamiTF343094.

Family and domain databases

CDDicd02046. hsp47. 1 hit.
InterProiIPR023795. Serpin_CS.
IPR023796. Serpin_dom.
IPR000215. Serpin_fam.
IPR033830. Serpin_H1_domain.
IPR033547. SERPINH1.
[Graphical view]
PANTHERiPTHR11461. PTHR11461. 1 hit.
PTHR11461:SF27. PTHR11461:SF27. 1 hit.
PfamiPF00079. Serpin. 1 hit.
[Graphical view]
SMARTiSM00093. SERPIN. 1 hit.
[Graphical view]
SUPFAMiSSF56574. SSF56574. 1 hit.
PROSITEiPS00014. ER_TARGET. 1 hit.
PS00284. SERPIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P50454-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRSLLLLSAF CLLEAALAAE VKKPAAAAAP GTAEKLSPKA ATLAERSAGL
60 70 80 90 100
AFSLYQAMAK DQAVENILVS PVVVASSLGL VSLGGKATTA SQAKAVLSAE
110 120 130 140 150
QLRDEEVHAG LGELLRSLSN STARNVTWKL GSRLYGPSSV SFADDFVRSS
160 170 180 190 200
KQHYNCEHSK INFRDKRSAL QSINEWAAQT TDGKLPEVTK DVERTDGALL
210 220 230 240 250
VNAMFFKPHW DEKFHHKMVD NRGFMVTRSY TVGVMMMHRT GLYNYYDDEK
260 270 280 290 300
EKLQIVEMPL AHKLSSLIIL MPHHVEPLER LEKLLTKEQL KIWMGKMQKK
310 320 330 340 350
AVAISLPKGV VEVTHDLQKH LAGLGLTEAI DKNKADLSRM SGKKDLYLAS
360 370 380 390 400
VFHATAFELD TDGNPFDQDI YGREELRSPK LFYADHPFIF LVRDTQSGSL
410
LFIGRLVRPK GDKMRDEL
Length:418
Mass (Da):46,441
Last modified:January 23, 2002 - v2
Checksum:iB7719FCA13A55DEB
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti7 – 10LSAF → GTL in CAA43795 (PubMed:1309665).Curated4
Sequence conflicti14 – 15EA → AV in CAA43795 (PubMed:1309665).Curated2
Sequence conflicti25 – 26AA → VE in CAA43795 (PubMed:1309665).Curated2
Sequence conflicti38P → S in CAA43795 (PubMed:1309665).Curated1
Sequence conflicti41A → T in CAA43795 (PubMed:1309665).Curated1
Sequence conflicti46 – 48RSA → PST in CAA43795 (PubMed:1309665).Curated3
Sequence conflicti164R → P in CAA43795 (PubMed:1309665).Curated1
Sequence conflicti168 – 169SA → RP in BAA11829 (PubMed:7656593).Curated2
Sequence conflicti235M → T in CAA43795 (PubMed:1309665).Curated1
Sequence conflicti255I → L in CAA43795 (PubMed:1309665).Curated1
Sequence conflicti270L → F in AAH70087 (PubMed:15489334).Curated1
Sequence conflicti409P → L in CAA43795 (PubMed:1309665).Curated1

Polymorphismi

A functional SNP in the promoter of SERPINH1 is associated in African Americans with an increased risk for preterm premature rupture of membranes (PPROM) [MIMi: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.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02844541A → P.Corresponds to variant rs7105528dbSNPEnsembl.1
Natural variantiVAR_06360278L → P in OI10. 1 PublicationCorresponds to variant rs137853892dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X61598 mRNA. Translation: CAA43795.1.
D83174 mRNA. Translation: BAA11829.1.
AB044778 mRNA. Translation: BAA96788.1.
AB044779 mRNA. Translation: BAA96789.1.
AY744367 mRNA. Translation: AAU95378.1.
AY264853 mRNA. Translation: AAP93914.1.
BT007094 mRNA. Translation: AAP35758.1.
AK122936 mRNA. Translation: BAG53805.1.
CH471076 Genomic DNA. Translation: EAW74974.1.
BC014623 mRNA. Translation: AAH14623.1.
BC036298 mRNA. Translation: AAH36298.2.
BC070087 mRNA. Translation: AAH70087.1.
CCDSiCCDS8239.1.
PIRiI52968.
S20608.
RefSeqiNP_001193943.1. NM_001207014.1.
NP_001226.2. NM_001235.3.
XP_011543629.1. XM_011545327.1.
UniGeneiHs.596449.

Genome annotation databases

EnsembliENST00000358171; ENSP00000350894; ENSG00000149257.
ENST00000524558; ENSP00000434412; ENSG00000149257.
ENST00000533603; ENSP00000434657; ENSG00000149257.
GeneIDi871.
KEGGihsa:871.
UCSCiuc001owr.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Osteogenesis imperfecta variant database

Serpin H1 (SERPINH1)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X61598 mRNA. Translation: CAA43795.1.
D83174 mRNA. Translation: BAA11829.1.
AB044778 mRNA. Translation: BAA96788.1.
AB044779 mRNA. Translation: BAA96789.1.
AY744367 mRNA. Translation: AAU95378.1.
AY264853 mRNA. Translation: AAP93914.1.
BT007094 mRNA. Translation: AAP35758.1.
AK122936 mRNA. Translation: BAG53805.1.
CH471076 Genomic DNA. Translation: EAW74974.1.
BC014623 mRNA. Translation: AAH14623.1.
BC036298 mRNA. Translation: AAH36298.2.
BC070087 mRNA. Translation: AAH70087.1.
CCDSiCCDS8239.1.
PIRiI52968.
S20608.
RefSeqiNP_001193943.1. NM_001207014.1.
NP_001226.2. NM_001235.3.
XP_011543629.1. XM_011545327.1.
UniGeneiHs.596449.

3D structure databases

ProteinModelPortaliP50454.
SMRiP50454.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107318. 85 interactors.
IntActiP50454. 18 interactors.
MINTiMINT-3018432.
STRINGi9606.ENSP00000350894.

Chemistry databases

BindingDBiP50454.
ChEMBLiCHEMBL5286.

Protein family/group databases

MEROPSiI04.035.

PTM databases

iPTMnetiP50454.
PhosphoSitePlusiP50454.
SwissPalmiP50454.
UniCarbKBiP50454.

Polymorphism and mutation databases

BioMutaiSERPINH1.
DMDMi20141241.

2D gel databases

DOSAC-COBS-2DPAGEP50454.
UCD-2DPAGEP50454.

Proteomic databases

EPDiP50454.
MaxQBiP50454.
PaxDbiP50454.
PeptideAtlasiP50454.
PRIDEiP50454.
TopDownProteomicsiP50454.

Protocols and materials databases

DNASUi871.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000358171; ENSP00000350894; ENSG00000149257.
ENST00000524558; ENSP00000434412; ENSG00000149257.
ENST00000533603; ENSP00000434657; ENSG00000149257.
GeneIDi871.
KEGGihsa:871.
UCSCiuc001owr.4. human.

Organism-specific databases

CTDi871.
DisGeNETi871.
GeneCardsiSERPINH1.
HGNCiHGNC:1546. SERPINH1.
HPAiCAB004441.
HPA029198.
MalaCardsiSERPINH1.
MIMi600943. gene.
610504. phenotype.
613848. phenotype.
neXtProtiNX_P50454.
OpenTargetsiENSG00000149257.
Orphaneti216812. Osteogenesis imperfecta type 3.
PharmGKBiPA35034.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2392. Eukaryota.
COG4826. LUCA.
GeneTreeiENSGT00850000132337.
HOVERGENiHBG104930.
InParanoidiP50454.
KOiK09501.
OMAiNYEHSKI.
OrthoDBiEOG091G08O0.
PhylomeDBiP50454.
TreeFamiTF343094.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000149257-MONOMER.
ReactomeiR-HSA-1650814. Collagen biosynthesis and modifying enzymes.

Miscellaneous databases

ChiTaRSiSERPINH1. human.
GeneWikiiHeat_shock_protein_47.
GenomeRNAii871.
PROiP50454.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000149257.
CleanExiHS_SERPINH1.
ExpressionAtlasiP50454. baseline and differential.
GenevisibleiP50454. HS.

Family and domain databases

CDDicd02046. hsp47. 1 hit.
InterProiIPR023795. Serpin_CS.
IPR023796. Serpin_dom.
IPR000215. Serpin_fam.
IPR033830. Serpin_H1_domain.
IPR033547. SERPINH1.
[Graphical view]
PANTHERiPTHR11461. PTHR11461. 1 hit.
PTHR11461:SF27. PTHR11461:SF27. 1 hit.
PfamiPF00079. Serpin. 1 hit.
[Graphical view]
SMARTiSM00093. SERPIN. 1 hit.
[Graphical view]
SUPFAMiSSF56574. SSF56574. 1 hit.
PROSITEiPS00014. ER_TARGET. 1 hit.
PS00284. SERPIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSERPH_HUMAN
AccessioniPrimary (citable) accession number: P50454
Secondary accession number(s): B3KVJ3
, P29043, Q5XPB4, Q6NSJ6, Q8IY96, Q9NP88
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: January 23, 2002
Last modified: November 30, 2016
This is version 174 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.