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Serpin H1 (47 kDa heat shock protein) (Arsenic-transactivated protein 3) (AsTP3) (Cell proliferation-inducing gene 14 protein) (Collagen-binding protein) (Colligin) (Rheumatoid arthritis-related antigen RA-A47)

 SERPH_HUMAN             Reviewed;         418 AA.
P50454; B3KVJ3; P29043; Q5XPB4; Q6NSJ6; Q8IY96; Q9NP88;
01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
23-JAN-2002, sequence version 2.
10-OCT-2018, entry version 189.
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;
Name=SERPINH1; Synonyms=CBP1, CBP2, HSP47, SERPINH2; ORFNames=PIG14;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Fibroblast;
PubMed=1309665; DOI=10.1016/0167-4781(92)90498-O;
Clarke E., Sandwal B.D.;
"Cloning of a human collagen-binding protein, and its homology with
rat gp46, chick hsp47 and mouse J6 proteins.";
Biochim. Biophys. Acta 1129:246-248(1992).
[2]
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=7656593;
Ikegawa S., Sudo K., Okui K., Nakamura Y.;
"Isolation, characterization and chromosomal assignment of human
colligin-2 gene (CBP2).";
Cytogenet. Cell Genet. 71:182-186(1995).
[3]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Cartilage, and Fibroblast;
PubMed=11052465; DOI=10.1007/s007740070004;
Hattori T., Takahash K., Yutani Y., Fujisawa T., Nakanishi T.,
Takigawa M.;
"Rheumatoid arthritis-related antigen 47kDa (RA-A47) is a product of
colligin-2 and acts as a human HSP47.";
J. Bone Miner. Metab. 18:328-334(2000).
[4]
NUCLEOTIDE SEQUENCE [MRNA].
Wu S.-H., Cheng J., Zheng Y.-J., Zhang Y.-X., Liu Y., Zhong Y.-W.;
"Cloning and identification of human AsTP3 gene transactivated by
arsenic trioxide in HepG2 cells.";
Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Kim J.W.;
"Identification of a human cell proliferation gene 14.";
Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor
vector.";
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Testis;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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., 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.
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain, Ovary, and Skin;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[10]
POLYMORPHISM IN PROMOTER, AND INVOLVEMENT IN PPROM.
PubMed=16938879; DOI=10.1073/pnas.0603676103;
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;
"A functional SNP in the promoter of the SERPINH1 gene increases risk
of preterm premature rupture of membranes in African Americans.";
Proc. Natl. Acad. Sci. U.S.A. 103:13463-13467(2006).
[11]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[12]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=22905912; DOI=10.1021/pr300539b;
Rosenow A., Noben J.P., Jocken J., Kallendrusch S.,
Fischer-Posovszky P., Mariman E.C., Renes J.;
"Resveratrol-induced changes of the human adipocyte secretion
profile.";
J. Proteome Res. 11:4733-4743(2012).
[13]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-141, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Erythroleukemia;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
[14]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Liver;
PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
Wang L., Ye M., Zou H.;
"An enzyme assisted RP-RPLC approach for in-depth analysis of human
liver phosphoproteome.";
J. Proteomics 96:253-262(2014).
[15]
VARIANT OI10 PRO-78.
PubMed=20188343; DOI=10.1016/j.ajhg.2010.01.034;
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.;
"Homozygosity for a missense mutation in SERPINH1, which encodes the
collagen chaperone protein HSP47, results in severe recessive
osteogenesis imperfecta.";
Am. J. Hum. Genet. 86:389-398(2010).
-!- 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: 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. {ECO:0000269|PubMed:20188343}. Note=The disease is caused
by mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the serpin family. {ECO:0000305}.
-!- WEB RESOURCE: Name=Osteogenesis imperfecta variant database;
Note=Serpin H1 (SERPINH1);
URL="http://oi.gene.le.ac.uk/home.php?select_db=SERPINH1";
-----------------------------------------------------------------------
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EMBL; X61598; CAA43795.1; -; mRNA.
EMBL; D83174; BAA11829.1; -; mRNA.
EMBL; AB044778; BAA96788.1; -; mRNA.
EMBL; AB044779; BAA96789.1; -; mRNA.
EMBL; AY744367; AAU95378.1; -; mRNA.
EMBL; AY264853; AAP93914.1; -; mRNA.
EMBL; BT007094; AAP35758.1; -; mRNA.
EMBL; AK122936; BAG53805.1; -; mRNA.
EMBL; CH471076; EAW74974.1; -; Genomic_DNA.
EMBL; BC014623; AAH14623.1; -; mRNA.
EMBL; BC036298; AAH36298.2; -; mRNA.
EMBL; BC070087; AAH70087.1; -; mRNA.
CCDS; CCDS8239.1; -.
PIR; I52968; I52968.
PIR; S20608; S20608.
RefSeq; NP_001193943.1; NM_001207014.1.
RefSeq; NP_001226.2; NM_001235.3.
RefSeq; XP_011543629.1; XM_011545327.1.
UniGene; Hs.596449; -.
ProteinModelPortal; P50454; -.
SMR; P50454; -.
BioGrid; 107318; 100.
IntAct; P50454; 34.
MINT; P50454; -.
STRING; 9606.ENSP00000350894; -.
BindingDB; P50454; -.
ChEMBL; CHEMBL5286; -.
MEROPS; I04.035; -.
GlyConnect; 658; -.
iPTMnet; P50454; -.
PhosphoSitePlus; P50454; -.
SwissPalm; P50454; -.
UniCarbKB; P50454; -.
BioMuta; SERPINH1; -.
DMDM; 20141241; -.
DOSAC-COBS-2DPAGE; P50454; -.
UCD-2DPAGE; P50454; -.
EPD; P50454; -.
MaxQB; P50454; -.
PaxDb; P50454; -.
PeptideAtlas; P50454; -.
PRIDE; P50454; -.
ProteomicsDB; 56229; -.
TopDownProteomics; P50454; -.
DNASU; 871; -.
Ensembl; ENST00000358171; ENSP00000350894; ENSG00000149257.
Ensembl; ENST00000524558; ENSP00000434412; ENSG00000149257.
Ensembl; ENST00000533603; ENSP00000434657; ENSG00000149257.
GeneID; 871; -.
KEGG; hsa:871; -.
UCSC; uc001owr.4; human.
CTD; 871; -.
DisGeNET; 871; -.
EuPathDB; HostDB:ENSG00000149257.13; -.
GeneCards; SERPINH1; -.
HGNC; HGNC:1546; SERPINH1.
HPA; CAB004441; -.
HPA; HPA029198; -.
MalaCards; SERPINH1; -.
MIM; 600943; gene.
MIM; 610504; phenotype.
MIM; 613848; phenotype.
neXtProt; NX_P50454; -.
OpenTargets; ENSG00000149257; -.
Orphanet; 216812; Osteogenesis imperfecta type 3.
PharmGKB; PA35034; -.
eggNOG; KOG2392; Eukaryota.
eggNOG; COG4826; LUCA.
GeneTree; ENSGT00900000140788; -.
HOVERGEN; HBG104930; -.
InParanoid; P50454; -.
KO; K09501; -.
OMA; GVPMMHR; -.
OrthoDB; EOG091G08O0; -.
PhylomeDB; P50454; -.
TreeFam; TF343094; -.
Reactome; R-HSA-1650814; Collagen biosynthesis and modifying enzymes.
ChiTaRS; SERPINH1; human.
GeneWiki; Heat_shock_protein_47; -.
GenomeRNAi; 871; -.
PRO; PR:P50454; -.
Proteomes; UP000005640; Chromosome 11.
Bgee; ENSG00000149257; Expressed in 216 organ(s), highest expression level in smooth muscle tissue.
CleanEx; HS_SERPINH1; -.
ExpressionAtlas; P50454; baseline and differential.
Genevisible; P50454; HS.
GO; GO:0062023; C:collagen-containing extracellular matrix; HDA:BHF-UCL.
GO; GO:0005783; C:endoplasmic reticulum; IDA:HPA.
GO; GO:0005788; C:endoplasmic reticulum lumen; TAS:Reactome.
GO; GO:0005793; C:endoplasmic reticulum-Golgi intermediate compartment; IDA:UniProtKB.
GO; GO:0045121; C:membrane raft; IDA:UniProtKB.
GO; GO:0005518; F:collagen binding; IBA:GO_Central.
GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
GO; GO:0004867; F:serine-type endopeptidase inhibitor activity; IBA:GO_Central.
GO; GO:0051082; F:unfolded protein binding; IEA:Ensembl.
GO; GO:0003433; P:chondrocyte development involved in endochondral bone morphogenesis; IEA:Ensembl.
GO; GO:0032964; P:collagen biosynthetic process; IEA:Ensembl.
GO; GO:0030199; P:collagen fibril organization; IBA:GO_Central.
GO; GO:0051604; P:protein maturation; IEA:Ensembl.
GO; GO:0006986; P:response to unfolded protein; TAS:ProtInc.
CDD; cd02046; hsp47; 1.
InterPro; IPR023795; Serpin_CS.
InterPro; IPR023796; Serpin_dom.
InterPro; IPR000215; Serpin_fam.
InterPro; IPR033830; Serpin_H1_domain.
InterPro; IPR036186; Serpin_sf.
InterPro; IPR033547; SERPINH1.
PANTHER; PTHR11461; PTHR11461; 1.
PANTHER; PTHR11461:SF27; PTHR11461:SF27; 1.
Pfam; PF00079; Serpin; 1.
SMART; SM00093; SERPIN; 1.
SUPFAM; SSF56574; SSF56574; 1.
PROSITE; PS00014; ER_TARGET; 1.
PROSITE; PS00284; SERPIN; 1.
1: Evidence at protein level;
Acetylation; Chaperone; Complete proteome; Endoplasmic reticulum;
Glycoprotein; Osteogenesis imperfecta; Phosphoprotein; Polymorphism;
Reference proteome; Signal; Stress response.
SIGNAL 1 18 {ECO:0000255}.
CHAIN 19 418 Serpin H1.
/FTId=PRO_0000032520.
MOTIF 415 418 Prevents secretion from ER.
{ECO:0000255|PROSITE-ProRule:PRU10138}.
COMPBIAS 25 29 Poly-Ala.
SITE 377 378 Reactive bond homolog. {ECO:0000250}.
MOD_RES 94 94 N6-succinyllysine.
{ECO:0000250|UniProtKB:P19324}.
MOD_RES 141 141 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
MOD_RES 207 207 N6-acetyllysine.
{ECO:0000250|UniProtKB:P19324}.
MOD_RES 296 296 N6-succinyllysine.
{ECO:0000250|UniProtKB:P19324}.
MOD_RES 319 319 N6-acetyllysine.
{ECO:0000250|UniProtKB:P19324}.
CARBOHYD 120 120 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 125 125 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VARIANT 41 41 A -> P (in dbSNP:rs7105528).
/FTId=VAR_028445.
VARIANT 78 78 L -> P (in OI10; dbSNP:rs137853892).
{ECO:0000269|PubMed:20188343}.
/FTId=VAR_063602.
CONFLICT 7 10 LSAF -> GTL (in Ref. 1; CAA43795).
{ECO:0000305}.
CONFLICT 14 15 EA -> AV (in Ref. 1; CAA43795).
{ECO:0000305}.
CONFLICT 25 26 AA -> VE (in Ref. 1; CAA43795).
{ECO:0000305}.
CONFLICT 38 38 P -> S (in Ref. 1; CAA43795).
{ECO:0000305}.
CONFLICT 41 41 A -> T (in Ref. 1; CAA43795).
{ECO:0000305}.
CONFLICT 46 48 RSA -> PST (in Ref. 1; CAA43795).
{ECO:0000305}.
CONFLICT 164 164 R -> P (in Ref. 1; CAA43795).
{ECO:0000305}.
CONFLICT 168 169 SA -> RP (in Ref. 2; BAA11829).
{ECO:0000305}.
CONFLICT 235 235 M -> T (in Ref. 1; CAA43795).
{ECO:0000305}.
CONFLICT 255 255 I -> L (in Ref. 1; CAA43795).
{ECO:0000305}.
CONFLICT 270 270 L -> F (in Ref. 9; AAH70087).
{ECO:0000305}.
CONFLICT 409 409 P -> L (in Ref. 1; CAA43795).
{ECO:0000305}.
SEQUENCE 418 AA; 46441 MW; B7719FCA13A55DEB CRC64;
MRSLLLLSAF CLLEAALAAE VKKPAAAAAP GTAEKLSPKA ATLAERSAGL AFSLYQAMAK
DQAVENILVS PVVVASSLGL VSLGGKATTA SQAKAVLSAE QLRDEEVHAG LGELLRSLSN
STARNVTWKL GSRLYGPSSV SFADDFVRSS KQHYNCEHSK INFRDKRSAL QSINEWAAQT
TDGKLPEVTK DVERTDGALL VNAMFFKPHW DEKFHHKMVD NRGFMVTRSY TVGVMMMHRT
GLYNYYDDEK EKLQIVEMPL AHKLSSLIIL MPHHVEPLER LEKLLTKEQL KIWMGKMQKK
AVAISLPKGV VEVTHDLQKH LAGLGLTEAI DKNKADLSRM SGKKDLYLAS VFHATAFELD
TDGNPFDQDI YGREELRSPK LFYADHPFIF LVRDTQSGSL LFIGRLVRPK GDKMRDEL


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GENTAUR France SARL
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Tel 01 43 25 01 50

Fax 01 43 25 01 60
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BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG

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GENTAUR GmbH
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Support Karolina Elandt
Tel: 0035929830070
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San Jose, CA 95123
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Tel (408) 780-0908,
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Genprice Inc, Invoices and accounting
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GENTAUR Poland Sp. z o.o.


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