P50454 (SERPH_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	SERPINH1
Synonyms:	CBP1, CBP2, HSP47, SERPINH2
ORF Names:	PIG14

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	418 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 connective tissue disorder characterized by bone fragility, low bone mass, bowing of limbs due to multiple fractures, dentinogenesis imperfecta, short limb dwarfism 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.

Ontologies

Keywords
Biological process	Stress response
Cellular component	Endoplasmic reticulum
Coding sequence diversity	Polymorphism
Disease	Osteogenesis imperfecta
Domain	Signal
Molecular function	Chaperone
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	collagen biosynthetic process Inferred from electronic annotation. Source: Compara collagen fibril organization Inferred from electronic annotation. Source: Compara extracellular matrix organization Traceable author statement. Source: Reactome protein maturation Inferred from electronic annotation. Source: Compara regulation of proteolysis Inferred from Biological aspect of Ancestor. Source: RefGenome response to unfolded protein Traceable author statement PubMed 10023073Ref.1. Source: ProtInc
Cellular_component	endoplasmic reticulum lumen Traceable author statement. Source: Reactome endoplasmic reticulum-Golgi intermediate compartment Inferred from direct assay PubMed 15308636. Source: UniProtKB
Molecular_function	collagen binding Non-traceable author statement Ref.2. Source: UniProtKB serine-type endopeptidase inhibitor activity Inferred from Biological aspect of Ancestor. Source: RefGenome
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 18	18	Potential
	Chain	19 – 418	400	Serpin H1		PRO_0000032520
Regions
	Motif	415 – 418	4	Prevents secretion from ER Potential
	Compositional bias	25 – 29	5	Poly-Ala
Sites
	Site	377 – 378	2	Reactive bond homolog By similarity
Amino acid modifications
	Glycosylation	120	1	N-linked (GlcNAc...) Potential
	Glycosylation	125	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	41	1	A → P. Corresponds to variant rs7105528 [ dbSNP | Ensembl ].		VAR_028445
	Natural variant	78	1	L → P in OI10. Ref.12		VAR_063602
Experimental info
	Sequence conflict	7 – 10	4	LSAF → GTL in CAA43795. Ref.1
	Sequence conflict	14 – 15	2	EA → AV in CAA43795. Ref.1
	Sequence conflict	25 – 26	2	AA → VE in CAA43795. Ref.1
	Sequence conflict	38	1	P → S in CAA43795. Ref.1
	Sequence conflict	41	1	A → T in CAA43795. Ref.1
	Sequence conflict	46 – 48	3	RSA → PST in CAA43795. Ref.1
	Sequence conflict	164	1	R → P in CAA43795. Ref.1
	Sequence conflict	168 – 169	2	SA → RP in BAA11829. Ref.2
	Sequence conflict	235	1	M → T in CAA43795. Ref.1
	Sequence conflict	255	1	I → L in CAA43795. Ref.1
	Sequence conflict	270	1	L → F in AAH70087. Ref.9
	Sequence conflict	409	1	P → L in CAA43795. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P50454 [UniParc]. Last modified January 23, 2002. Version 2. Checksum: B7719FCA13A55DEB	FASTA	418	46,441
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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

Osteogenesis imperfecta variant database

Serpin H1 (SERPINH1)

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.
IPI	IPI00032140.
PIR	I52968. S20608.
RefSeq	NP_001193943.1. NM_001207014.1. NP_001226.2. NM_001235.3.
UniGene	Hs.596449.
3D structure databases
ProteinModelPortal	P50454.
ModBase	Search...
Protein-protein interaction databases
IntAct	P50454. 10 interactions.
MINT	MINT-3018432.
STRING	9606.ENSP00000350894.
Protein family/group databases
MEROPS	I04.035.
PTM databases
PhosphoSite	P50454.
Polymorphism databases
DMDM	20141241.
2D gel databases
DOSAC-COBS-2DPAGE	P50454.
UCD-2DPAGE	P50454.
Proteomic databases
PaxDb	P50454.
PeptideAtlas	P50454.
PRIDE	P50454.
Protocols and materials databases
DNASU	871.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000358171; ENSP00000350894; ENSG00000149257. ENST00000524558; ENSP00000434412; ENSG00000149257. ENST00000533603; ENSP00000434657; ENSG00000149257.
GeneID	871.
KEGG	hsa:871.
UCSC	uc001owr.3. human.
Organism-specific databases
CTD	871.
GeneCards	GC11P075273.
HGNC	HGNC:1546. SERPINH1.
HPA	CAB004441. HPA029198.
MIM	600943. gene. 610504. phenotype. 613848. phenotype.
neXtProt	NX_P50454.
Orphanet	216812. Osteogenesis imperfecta type 3.
PharmGKB	PA35034.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG4826.
HOVERGEN	HBG104930.
InParanoid	P50454.
KO	K09501.
OMA	INEWASQ.
OrthoDB	EOG43FGX2.
PhylomeDB	P50454.
Enzyme and pathway databases
Reactome	REACT_118779. Extracellular matrix organization.
Gene expression databases
ArrayExpress	P50454.
Bgee	P50454.
CleanEx	HS_SERPINH1.
Genevestigator	P50454.
GermOnline	ENSG00000149257. Homo sapiens.
Family and domain databases
InterPro	IPR023795. Protease_inhib_I4_serpin_CS. IPR023796. Serpin_dom. IPR000215. Serpin_fam. [Graphical view]
PANTHER	PTHR11461. PTHR11461. 1 hit.
Pfam	PF00079. Serpin. 1 hit. [Graphical view]
SMART	SM00093. SERPIN. 1 hit. [Graphical view]
SUPFAM	SSF56574. Prot_inh_serpin. 1 hit.
PROSITE	PS00014. ER_TARGET. 1 hit. PS00284. SERPIN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	P50454.
ChEMBL	CHEMBL5286.
ChiTaRS	SERPINH1. human.
GenomeRNAi	871.
NextBio	3630.
SOURCE	Search...

Entry information

Entry name

SERPH_HUMAN

Accession

Primary (citable) accession number: P50454
Secondary accession number(s): B3KVJ3 , P29043, Q5XPB4, Q6NSJ6, Q8IY96, Q9NP88

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	January 23, 2002
Last modified:	May 1, 2013
This is version 136 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.