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P50454

- SERPH_HUMAN

UniProt

P50454 - SERPH_HUMAN

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Protein

Serpin H1

Gene

SERPINH1

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Sitei377 – 3782Reactive bond homologBy similarity

GO - Molecular functioni

  1. collagen binding Source: UniProtKB
  2. poly(A) RNA binding Source: UniProtKB
  3. serine-type endopeptidase inhibitor activity Source: RefGenome

GO - Biological processi

  1. chondrocyte development involved in endochondral bone morphogenesis Source: Ensembl
  2. collagen biosynthetic process Source: Ensembl
  3. collagen fibril organization Source: Ensembl
  4. extracellular matrix organization Source: Reactome
  5. negative regulation of endopeptidase activity Source: RefGenome
  6. protein maturation Source: Ensembl
  7. regulation of proteolysis Source: RefGenome
  8. response to unfolded protein Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Chaperone

Keywords - Biological processi

Stress response

Enzyme and pathway databases

ReactomeiREACT_121139. 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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:1546. SERPINH1.

Subcellular locationi

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB
  2. endoplasmic reticulum-Golgi intermediate compartment Source: UniProtKB
  3. endoplasmic reticulum lumen Source: Reactome
  4. extracellular space Source: InterPro
  5. extracellular vesicular exosome Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti78 – 781L → P in OI10. 1 Publication
VAR_063602

Keywords - Diseasei

Osteogenesis imperfecta

Organism-specific databases

MIMi610504. phenotype.
613848. phenotype.
Orphaneti216812. Osteogenesis imperfecta type 3.
PharmGKBiPA35034.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence AnalysisAdd
BLAST
Chaini19 – 418400Serpin H1PRO_0000032520Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei94 – 941N6-succinyllysineBy similarity
Glycosylationi120 – 1201N-linked (GlcNAc...)Sequence Analysis
Glycosylationi125 – 1251N-linked (GlcNAc...)Sequence Analysis
Modified residuei207 – 2071N6-acetyllysineBy similarity
Modified residuei296 – 2961N6-succinyllysineBy similarity
Modified residuei319 – 3191N6-acetyllysineBy similarity

Keywords - PTMi

Acetylation, Glycoprotein

Proteomic databases

MaxQBiP50454.
PaxDbiP50454.
PeptideAtlasiP50454.
PRIDEiP50454.

2D gel databases

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

PTM databases

PhosphoSiteiP50454.

Expressioni

Inductioni

By heat shock.

Gene expression databases

BgeeiP50454.
CleanExiHS_SERPINH1.
ExpressionAtlasiP50454. baseline and differential.
GenevestigatoriP50454.

Organism-specific databases

HPAiCAB004441.
HPA029198.

Interactioni

Protein-protein interaction databases

BioGridi107318. 74 interactions.
IntActiP50454. 15 interactions.
MINTiMINT-3018432.
STRINGi9606.ENSP00000350894.

Structurei

3D structure databases

ProteinModelPortaliP50454.
SMRiP50454. Positions 36-418.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi415 – 4184Prevents secretion from ERPROSITE-ProRule annotation

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi25 – 295Poly-Ala

Sequence similaritiesi

Belongs to the serpin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiCOG4826.
GeneTreeiENSGT00770000120524.
HOVERGENiHBG104930.
InParanoidiP50454.
KOiK09501.
OMAiGVPMMHR.
OrthoDBiEOG7GBFX4.
PhylomeDBiP50454.
TreeFamiTF343094.

Family and domain databases

InterProiIPR023795. Serpin_CS.
IPR023796. Serpin_dom.
IPR000215. Serpin_fam.
[Graphical view]
PANTHERiPTHR11461. PTHR11461. 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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti7 – 104LSAF → GTL in CAA43795. (PubMed:1309665)Curated
Sequence conflicti14 – 152EA → AV in CAA43795. (PubMed:1309665)Curated
Sequence conflicti25 – 262AA → VE in CAA43795. (PubMed:1309665)Curated
Sequence conflicti38 – 381P → S in CAA43795. (PubMed:1309665)Curated
Sequence conflicti41 – 411A → T in CAA43795. (PubMed:1309665)Curated
Sequence conflicti46 – 483RSA → PST in CAA43795. (PubMed:1309665)Curated
Sequence conflicti164 – 1641R → P in CAA43795. (PubMed:1309665)Curated
Sequence conflicti168 – 1692SA → RP in BAA11829. (PubMed:7656593)Curated
Sequence conflicti235 – 2351M → T in CAA43795. (PubMed:1309665)Curated
Sequence conflicti255 – 2551I → L in CAA43795. (PubMed:1309665)Curated
Sequence conflicti270 – 2701L → F in AAH70087. (PubMed:15489334)Curated
Sequence conflicti409 – 4091P → L in CAA43795. (PubMed:1309665)Curated

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti41 – 411A → P.
Corresponds to variant rs7105528 [ dbSNP | Ensembl ].
VAR_028445
Natural varianti78 – 781L → P in OI10. 1 Publication
VAR_063602

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_006718790.1. XM_006718727.1.
XP_006718791.1. XM_006718728.1.
XP_006718792.1. XM_006718729.1.
UniGeneiHs.596449.

Genome annotation databases

EnsembliENST00000358171; ENSP00000350894; ENSG00000149257.
ENST00000524558; ENSP00000434412; ENSG00000149257.
ENST00000533603; ENSP00000434657; ENSG00000149257.
GeneIDi871.
KEGGihsa:871.
UCSCiuc001owr.3. human.

Polymorphism databases

DMDMi20141241.

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 .
CCDSi CCDS8239.1.
PIRi I52968.
S20608.
RefSeqi NP_001193943.1. NM_001207014.1.
NP_001226.2. NM_001235.3.
XP_006718790.1. XM_006718727.1.
XP_006718791.1. XM_006718728.1.
XP_006718792.1. XM_006718729.1.
UniGenei Hs.596449.

3D structure databases

ProteinModelPortali P50454.
SMRi P50454. Positions 36-418.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107318. 74 interactions.
IntActi P50454. 15 interactions.
MINTi MINT-3018432.
STRINGi 9606.ENSP00000350894.

Chemistry

BindingDBi P50454.
ChEMBLi CHEMBL5286.

Protein family/group databases

MEROPSi I04.035.

PTM databases

PhosphoSitei P50454.

Polymorphism databases

DMDMi 20141241.

2D gel databases

DOSAC-COBS-2DPAGE P50454.
UCD-2DPAGE P50454.

Proteomic databases

MaxQBi P50454.
PaxDbi P50454.
PeptideAtlasi P50454.
PRIDEi P50454.

Protocols and materials databases

DNASUi 871.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000358171 ; ENSP00000350894 ; ENSG00000149257 .
ENST00000524558 ; ENSP00000434412 ; ENSG00000149257 .
ENST00000533603 ; ENSP00000434657 ; ENSG00000149257 .
GeneIDi 871.
KEGGi hsa:871.
UCSCi uc001owr.3. human.

Organism-specific databases

CTDi 871.
GeneCardsi GC11P075273.
HGNCi HGNC:1546. SERPINH1.
HPAi CAB004441.
HPA029198.
MIMi 600943. gene.
610504. phenotype.
613848. phenotype.
neXtProti NX_P50454.
Orphaneti 216812. Osteogenesis imperfecta type 3.
PharmGKBi PA35034.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG4826.
GeneTreei ENSGT00770000120524.
HOVERGENi HBG104930.
InParanoidi P50454.
KOi K09501.
OMAi GVPMMHR.
OrthoDBi EOG7GBFX4.
PhylomeDBi P50454.
TreeFami TF343094.

Enzyme and pathway databases

Reactomei REACT_121139. Collagen biosynthesis and modifying enzymes.

Miscellaneous databases

ChiTaRSi SERPINH1. human.
GeneWikii Heat_shock_protein_47.
GenomeRNAii 871.
NextBioi 3630.
PROi P50454.
SOURCEi Search...

Gene expression databases

Bgeei P50454.
CleanExi HS_SERPINH1.
ExpressionAtlasi P50454. baseline and differential.
Genevestigatori P50454.

Family and domain databases

InterProi IPR023795. Serpin_CS.
IPR023796. Serpin_dom.
IPR000215. Serpin_fam.
[Graphical view ]
PANTHERi PTHR11461. PTHR11461. 1 hit.
Pfami PF00079. Serpin. 1 hit.
[Graphical view ]
SMARTi SM00093. SERPIN. 1 hit.
[Graphical view ]
SUPFAMi SSF56574. SSF56574. 1 hit.
PROSITEi PS00014. ER_TARGET. 1 hit.
PS00284. SERPIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of a human collagen-binding protein, and its homology with rat gp46, chick hsp47 and mouse J6 proteins."
    Clarke E., Sandwal B.D.
    Biochim. Biophys. Acta 1129:246-248(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Fibroblast.
  2. "Isolation, characterization and chromosomal assignment of human colligin-2 gene (CBP2)."
    Ikegawa S., Sudo K., Okui K., Nakamura Y.
    Cytogenet. Cell Genet. 71:182-186(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "Rheumatoid arthritis-related antigen 47kDa (RA-A47) is a product of colligin-2 and acts as a human HSP47."
    Hattori T., Takahash K., Yutani Y., Fujisawa T., Nakanishi T., Takigawa M.
    J. Bone Miner. Metab. 18:328-334(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Cartilage and Fibroblast.
  4. "Cloning and identification of human AsTP3 gene transactivated by arsenic trioxide in HepG2 cells."
    Wu S.-H., Cheng J., Zheng Y.-J., Zhang Y.-X., Liu Y., Zhong Y.-W.
    Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  5. "Identification of a human cell proliferation gene 14."
    Kim J.W.
    Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  6. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  7. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain, Ovary and Skin.
  10. "A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans."
    Wang H., Parry S., Macones G., Sammel M.D., Kuivaniemi H., Tromp G., Argyropoulos G., Halder I., Shriver M.D., Romero R., Strauss J.F. III
    Proc. Natl. Acad. Sci. U.S.A. 103:13463-13467(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: POLYMORPHISM IN PROMOTER, INVOLVEMENT IN PPROM.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. "Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta."
    Christiansen H.E., Schwarze U., Pyott S.M., AlSwaid A., Al Balwi M., Alrasheed S., Pepin M.G., Weis M.A., Eyre D.R., Byers P.H.
    Am. J. Hum. Genet. 86:389-398(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT OI10 PRO-78.

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 26, 2014
This is version 152 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

External Data

Dasty 3