SERPINH1 - serpin family H member 1 Gene

Homo sapiens

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

Gene ID: 871 | Gene type: protein coding

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

SERPINH1 Protein Structure

Serpin

0
100
200
300
418 a.a.

Protein Preferred Names

Protein Names

serpin H1

47 kDa heat shock protein

Recombinant SERPINH1 Proteins

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12728	SERPINH1 Human Pre-designed siRNA Set A		/	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

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