SERPINH1 - serpin family H member 1 Gene

Also Known as CBP1; CBP2; OI10; gp46; AsTP3; HSP47; PIG14; PPROM; RA-A47; SERPINH2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 871

About SERPINH1

Cytogenetic location: 11q13.5 Genomic coordinates (GRCh38): 11:75,562,253-75,572,783 (from NCBI)

This gene has 16 transcripts (splice variants), 270 orthologues, 36 paralogues and is associated with 3 phenotypes. Broad expression in placenta (RPKM 140.7), endometrium (RPKM 76.2) and 21 other tissues.

Summary

This gene encodes a member of the Serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in Collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for Cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]

SERPINH1 Products (2)

mRNA	Protein	Name
NM_001207014.3	NP_001193943.1	serpin H1 precursor
NM_001235.5	NP_001226.2	serpin H1 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum-Golgi intermediate compartment	IDA IDA: Inferred from direct assay	15308636	GOA
located in membrane raft	IDA IDA: Inferred from direct assay	25204797	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SERPINH1 Protein Structure

Serpin

0
100
200
300
400
418 a.a.

Protein Preferred Names	Protein Names
serpin H1	47 kDa heat shock protein

SERPINH1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SERPINH1	P50454	AK2	Homo sapiens	P54819	Validated Y2H	32814053
Intra	SERPINH1	P50454	AK2	Homo sapiens	P54819	Y2H Array	32814053
Intra	SERPINH1	P50454	AK2	Homo sapiens	P54819	Y2H Pooling	32814053
Intra	SERPINH1	P50454	SNX20	Homo sapiens	Q7Z614-3	Validated Y2H	32814053
Intra	SERPINH1	P50454	SNX20	Homo sapiens	Q7Z614-3	Y2H Array	32814053
Intra	SERPINH1	P50454	SNX20	Homo sapiens	Q7Z614-3	Y2H Pooling	32814053
Intra	SERPINH1	P50454	COL25A1	Homo sapiens	Q8NE08	Y2H Pooling	32814053
Intra	SERPINH1	P50454	COL25A1	Homo sapiens	Q8NE08	Validated Y2H	32814053
Intra	SERPINH1	P50454	COL25A1	Homo sapiens	Q8NE08	Y2H Array	32814053
Intra	SERPINH1	P50454	ITGAV	Homo sapiens	P06756	Validated Y2H	32814053
Intra	SERPINH1	P50454	ITGAV	Homo sapiens	P06756	Y2H Array	32814053
Intra	SERPINH1	P50454	ITGAV	Homo sapiens	P06756	Y2H Pooling	32814053
Intra	SERPINH1	P50454	MYNN	Homo sapiens	Q9NPC7	Validated Y2H	32814053
Intra	SERPINH1	P50454	MYNN	Homo sapiens	Q9NPC7	Y2H Array	32814053
Intra	SERPINH1	P50454	MYNN	Homo sapiens	Q9NPC7	Y2H Pooling	32814053
Intra	SERPINH1	P50454	PSMD2	Homo sapiens	Q13200	Lumier	32814053
Intra	SERPINH1	P50454	PTN	Homo sapiens	P21246	Y2H Array	32814053
Intra	SERPINH1	P50454	PTN	Homo sapiens	P21246	Y2H Pooling	32814053
Intra	SERPINH1	P50454	PTN	Homo sapiens	P21246	Validated Y2H	32814053
Intra	SERPINH1	P50454	SGCA	Homo sapiens	Q16586	Y2H Array	32814053
Intra	SERPINH1	P50454	SGCA	Homo sapiens	Q16586	Y2H Pooling	32814053
Intra	SERPINH1	P50454	SGCA	Homo sapiens	Q16586	Validated Y2H	32814053
Intra	SERPINH1	P50454	IDH1	Homo sapiens	O75874	Y2H Array	32814053
Intra	SERPINH1	P50454	IDH1	Homo sapiens	O75874	Validated Y2H	32814053
Intra	SERPINH1	P50454	IDH1	Homo sapiens	O75874	Y2H Pooling	32814053
Intra	SERPINH1	P50454	CDH1	Homo sapiens	P12830	Validated Y2H	32814053
Intra	SERPINH1	P50454	CDH1	Homo sapiens	P12830	Y2H Array	32814053
Intra	SERPINH1	P50454	CDH1	Homo sapiens	P12830	Y2H Pooling	32814053
Intra	SERPINH1	P50454	CSNK1D	Homo sapiens	P48730-2	Validated Y2H	32814053
Intra	SERPINH1	P50454	CSNK1D	Homo sapiens	P48730-2	Y2H Array	32814053
Intra	SERPINH1	P50454	CSNK1D	Homo sapiens	P48730-2	Y2H Pooling	32814053
Intra	SERPINH1	P50454	ATXN1	Homo sapiens	P54253	Validated Y2H	32814053
Intra	SERPINH1	P50454	ATXN1	Homo sapiens	P54253	Y2H Array	32814053
Intra	SERPINH1	P50454	ATXN1	Homo sapiens	P54253	Y2H Pooling	32814053
Intra	SERPINH1	P50454	ATXN3	Homo sapiens	P54252	Y2H Array	32814053
Intra	SERPINH1	P50454	ATXN3	Homo sapiens	P54252	Y2H Pooling	32814053
Intra	SERPINH1	P50454	ATXN3	Homo sapiens	P54252	Validated Y2H	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SERPINH1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71298	Serpin H1 Protein, Human (HEK293, His)	P50454 (A19-L418)	≥ 95%, as determined by reducing SDS-PAGE.

SERPINH1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82863	Hsp47 Antibody (YA2608)	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Osteogenesis Imperfecta, Type X	Osteogenesis Imperfecta Type 10 OI10 Osteogenesis Imperfecta Type X Oi, Type X Osteogenesis Imperfecta 10 Oi Type X Oi-X
Preterm Premature Rupture Of The Membranes	Preterm Premature Rupture Of Membranes PPROM Preterm Premature Rupture Of The Membranes, Susceptibility To Pprom - [Preterm Premature Rupture Of Membranes] Preterm Rupture Of Membranes
Osteogenesis Imperfecta, Type Iii	Osteogenesis Imperfecta Type Iii OI3 Oi, Type Iii Osteogenesis Imperfecta Type 3 Oi Type Iii Oi Type 3 Progressive Deforming Osteogenesis Imperfecta Severe Osteogenesis Imperfecta Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae Progressively Deforming Osteogenesis Imperfecta With Normal Sclera Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae Progressively Deforming Oi Osteogenesis Imperfecta 3 Oi-Iii Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae
Rheumatoid Arthritis	RA Arthritis, Rheumatoid Rheumatoid Arthritis, Susceptibility To Arthritis Or Polyarthritis, Rheumatic Atrophic Arthritis Rheumatism Arthritis Rheumatoid Polyarthritis
Endocardium Disease
Fibromatosis, Gingival, 1	GINGF1 Ggf1 Fibromatosis, Gingival, Hereditary Hgf Hereditary Gingival Fibromatosis Gingf Gingival Fibromatosis, 1 Fibromatosis Gingival, Hereditary, 1 Hgf1 Hereditary Gingival Fibromatosis, 1
Arthritis	Inflammatory Joint Disease Inflammatory Disorder Of Joint
Dentinogenesis Imperfecta	Hereditary Opalescent Dentin Dentinogenesis Imperfecta Without Osteogenesis Imperfecta Dgi Capdepont Teeth Dgi Without Oi Di Non-Syndromic Dgi Non-Syndromic Dentinogenesis Imperfecta Opalescent Teeth Without Oi Opalescent Teeth Without Osteogenesis Imperfecta Opalescent Dentin
Keloid Disorder	Keloid Cheloid Keloid Scar Non-Surgical Keloid
Hydranencephaly	Hydroanencephaly
Epidermolysis Bullosa Acquisita	Acquired Epidermolysis Bullosa Eb Acquisita Eba Eba - [Epidermolysis Bullosa Acquisita]
Inflammatory Bowel Disease 21	IBD21
Pulmonary Fibrosis	Fibrosis Of Lung
Infective Endocarditis	Bacterial Endocarditis Endocarditis, Infective Infectious Endocarditis Endocarditis Infective
Bruck Syndrome	Osteogenesis Imperfecta With Congenital Joint Contractures Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome
Interstitial Lung Disease 2	Idiopathic Pulmonary Fibrosis Ipf Fibrocystic Pulmonary Dysplasia Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis, Idiopathic, Susceptibility To Cryptogenic Fibrosing Alveolitis ILD2 Idiopathic Pulmonary Fibrosis, Familial Fibrosing Alveolitis, Cryptogenic Uip Fibrosing Alveolitis Interstitial Pneumonitis, Usual Familial Idiopathic Pulmonary Fibrosis Idiopathic Fibrosing Alveolitis, Chronic Form Usual Interstitial Pneumonia Fibrosing Alveolitis Cryptogenic Hamman-Rich Disease Idiopathic Pulmonary Fibrosis Familial Interstitial Pneumonitis Usual Fibrosis Idiopathic Pulmonary Fibrosis, Pulmonary, Idiopathic Hamman-Rich Syndrome Chronic Idiopathic Pulmonary Fibrosis Acute Interstitial Pneumonia Interstitial Pulmonary Fibrosis Ipf - [Idiopathic Pulmonary Fibrosis] Idiopathic Lung Fibrosis Fibrosing Lung Disease Pulmonary Fibrosis Nos Fibrosing Pneumonitis
Glomerulonephritis	Bright'S Disease
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Adult T-Cell Leukemia/Lymphoma	Adult T-Cell Leukemia Atll Adult T-Cell Leukaemia Adult T-Cell Leukaemia/Lymphoma Adult T-Cell Lymphoma T Cell Leukemia Lymphoma Adult Leukemia-Lymphoma, Adult T-Cell Leukemia, T-Cell Adult T-Cell Lymphoma/Leukemia
Tropical Spastic Paraparesis	Tropical Spastic Paraplegia Ham/Tsp Htlv-Associated Myelopathy Tropical Spastic Paralysis Htlv-1 Associated Myelopathy/Tropical Spastic Paraparesis Human T-Cell Leukemia Virus Type 1 Associated Myelopathy/Tropical Spastic Paraparesis Htlv-1-Associated Myelopathy/Tropical Spastic Paraparesis Human T-Lymphotropic Virus Type I-Associated Myelopathy/Tropical Spastic Paraparesis Human T-Lymphotropic Virus Type-1-Associated Myelopathy/Tropical Spastic Paraparesis Tsp Paraparesis Tropical Spastic Paraparesis, Tropical Spastic
Gingival Fibromatosis	Hereditary Gingival Fibromatosis Hereditary Gingival Hyperplasia Autosomal Dominant Gingival Fibromatosis Autosomal Dominant Gingival Hyperplasia Fibromatosis, Gingival, Hereditary Fibromatosis, Gingival
Septic Arthritis	Infectious Arthritis Arthritis, Infectious Arthritis Septic Arthritis, Bacterial
Cole-Carpenter Syndrome	Cole Carpenter Syndrome Bone Fragility Craniosynostosis Proptosis Hydrocephalus Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome
Spondyloepiphyseal Dysplasia Congenita	SEDC Sed Congenita Spondyloepiphyseal Dysplasia, Congenital Type Late Spondyloepiphyseal Dysplasia Sed, Congenital Type Congenital Spondyloepiphyseal Dysplasia Spranger-Wiedemann Disease Spondyloepiphyseal Dysplasia Congenital Type Dysplasia, Spondyloepiphyseal, Congenita Spondyloepiphyseal Dysplasia, Congenita Spondyloepiphyseal Dysplasia Tarda, X-Linked
Osteogenesis Imperfecta, Type Ii	Vrolik Type Of Osteogenesis Imperfecta Osteogenesis Imperfecta Type 2 OI2 Oi, Type Ii Osteogenesis Imperfecta Congenita Oic Osteogenesis Imperfecta Type Ii Lethal Osteogenesis Imperfecta Oi Type 2 Osteogenesis Imperfecta Congenita Perinatal Lethal Form Osteogenesis Imperfecta Congenita, Perinatal Lethal Form Perinatal Lethal Osteogenesis Imperfecta Congenita Perinatally Lethal Oi Osteogenesis Imperfecta 2 Oi-Ii Oi-Iia Oi Type Iia Osteogenesis Imperfecta Type Iia Osteogenesis Imperfecta Type Ii Autosomal Dominant Oi Type Ii Osteogenesis Imperfecta, Dominant Perinatal Lethal
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Bone Development Disease
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12728	SERPINH1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20670	Serpinh1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27181	Serpinh1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SERPINH1	VGNC	VGNC:34480
Macaca mulatta	SERPINH1	VGNC	VGNC:101395
Felis catus	SERPINH1	VGNC	VGNC:65030
Canis familiaris	SERPINH1	VGNC	VGNC:46041
Mus musculus	SERPINH1	MGD	MGI:88283
Rattus norvegicus	SERPINH1	RGD	RGD:69302
Others	SERPINH1	NCBI