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P50454 (SERPH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 145. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SERPINH1
Synonyms:CBP1, CBP2, HSP47, SERPINH2
ORF Names:PIG14
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length418 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Involvement in disease

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. Ref.12

Sequence similarities

Belongs to the serpin family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1818 Potential
Chain19 – 418400Serpin H1
PRO_0000032520

Regions

Motif415 – 4184Prevents secretion from ER Potential
Compositional bias25 – 295Poly-Ala

Sites

Site377 – 3782Reactive bond homolog By similarity

Amino acid modifications

Modified residue941N6-succinyllysine By similarity
Modified residue2071N6-acetyllysine By similarity
Modified residue2961N6-succinyllysine By similarity
Modified residue3191N6-acetyllysine By similarity
Glycosylation1201N-linked (GlcNAc...) Potential
Glycosylation1251N-linked (GlcNAc...) Potential

Natural variations

Natural variant411A → P.
Corresponds to variant rs7105528 [ dbSNP | Ensembl ].
VAR_028445
Natural variant781L → P in OI10. Ref.12
VAR_063602

Experimental info

Sequence conflict7 – 104LSAF → GTL in CAA43795. Ref.1
Sequence conflict14 – 152EA → AV in CAA43795. Ref.1
Sequence conflict25 – 262AA → VE in CAA43795. Ref.1
Sequence conflict381P → S in CAA43795. Ref.1
Sequence conflict411A → T in CAA43795. Ref.1
Sequence conflict46 – 483RSA → PST in CAA43795. Ref.1
Sequence conflict1641R → P in CAA43795. Ref.1
Sequence conflict168 – 1692SA → RP in BAA11829. Ref.2
Sequence conflict2351M → T in CAA43795. Ref.1
Sequence conflict2551I → L in CAA43795. Ref.1
Sequence conflict2701L → F in AAH70087. Ref.9
Sequence conflict4091P → L in CAA43795. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P50454 [UniParc].

Last modified January 23, 2002. Version 2.
Checksum: B7719FCA13A55DEB

FASTA41846,441
        10         20         30         40         50         60 
MRSLLLLSAF CLLEAALAAE VKKPAAAAAP GTAEKLSPKA ATLAERSAGL AFSLYQAMAK 

        70         80         90        100        110        120 
DQAVENILVS PVVVASSLGL VSLGGKATTA SQAKAVLSAE QLRDEEVHAG LGELLRSLSN 

       130        140        150        160        170        180 
STARNVTWKL GSRLYGPSSV SFADDFVRSS KQHYNCEHSK INFRDKRSAL QSINEWAAQT 

       190        200        210        220        230        240 
TDGKLPEVTK DVERTDGALL VNAMFFKPHW DEKFHHKMVD NRGFMVTRSY TVGVMMMHRT 

       250        260        270        280        290        300 
GLYNYYDDEK EKLQIVEMPL AHKLSSLIIL MPHHVEPLER LEKLLTKEQL KIWMGKMQKK 

       310        320        330        340        350        360 
AVAISLPKGV VEVTHDLQKH LAGLGLTEAI DKNKADLSRM SGKKDLYLAS VFHATAFELD 

       370        380        390        400        410 
TDGNPFDQDI YGREELRSPK LFYADHPFIF LVRDTQSGSL LFIGRLVRPK GDKMRDEL 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRI52968.
S20608.
RefSeqNP_001193943.1. NM_001207014.1.
NP_001226.2. NM_001235.3.
XP_005274427.1. XM_005274370.1.
XP_005274428.1. XM_005274371.1.
UniGeneHs.596449.

3D structure databases

ProteinModelPortalP50454.
SMRP50454. Positions 36-418.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107318. 69 interactions.
IntActP50454. 14 interactions.
MINTMINT-3018432.
STRING9606.ENSP00000350894.

Chemistry

BindingDBP50454.
ChEMBLCHEMBL5286.

Protein family/group databases

MEROPSI04.035.

PTM databases

PhosphoSiteP50454.

Polymorphism databases

DMDM20141241.

2D gel databases

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

Proteomic databases

PaxDbP50454.
PeptideAtlasP50454.
PRIDEP50454.

Protocols and materials databases

DNASU871.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000358171; ENSP00000350894; ENSG00000149257.
ENST00000524558; ENSP00000434412; ENSG00000149257.
ENST00000533603; ENSP00000434657; ENSG00000149257.
GeneID871.
KEGGhsa:871.
UCSCuc001owr.3. human.

Organism-specific databases

CTD871.
GeneCardsGC11P075273.
HGNCHGNC:1546. SERPINH1.
HPACAB004441.
HPA029198.
MIM600943. gene.
610504. phenotype.
613848. phenotype.
neXtProtNX_P50454.
Orphanet216812. Osteogenesis imperfecta type 3.
PharmGKBPA35034.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG4826.
HOVERGENHBG104930.
InParanoidP50454.
KOK09501.
OMAINEWASQ.
OrthoDBEOG7GBFX4.
PhylomeDBP50454.
TreeFamTF343094.

Enzyme and pathway databases

ReactomeREACT_118779. Extracellular matrix organization.

Gene expression databases

ArrayExpressP50454.
BgeeP50454.
CleanExHS_SERPINH1.
GenevestigatorP50454.

Family and domain databases

InterProIPR023795. Serpin_CS.
IPR023796. Serpin_dom.
IPR000215. Serpin_fam.
[Graphical view]
PANTHERPTHR11461. PTHR11461. 1 hit.
PfamPF00079. Serpin. 1 hit.
[Graphical view]
SMARTSM00093. SERPIN. 1 hit.
[Graphical view]
SUPFAMSSF56574. SSF56574. 1 hit.
PROSITEPS00014. ER_TARGET. 1 hit.
PS00284. SERPIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSERPINH1. human.
GeneWikiHeat_shock_protein_47.
GenomeRNAi871.
NextBio3630.
PROP50454.
SOURCESearch...

Entry information

Entry nameSERPH_HUMAN
AccessionPrimary (citable) accession number: P50454
Secondary accession number(s): B3KVJ3 expand/collapse secondary AC list , P29043, Q5XPB4, Q6NSJ6, Q8IY96, Q9NP88
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: January 23, 2002
Last modified: March 19, 2014
This is version 145 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM