2. Gene
  3. SERPINH1 - serpin family H member 1 Gene

SERPINH1 - serpin family H member 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：serpin 家族 H 成员 1

种属: Homo sapiens

同用名: CBP1; CBP2; OI10; gp46; AsTP3; HSP47; PIG14; PPROM; RA-A47; SERPINH2

基因 ID: 871 | 基因类型: protein coding

关于 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.

功能概要

该基因编码丝氨酸蛋白酶抑制剂 serpin 超家族的成员。编码的蛋白质定位于内质网，并作为胶原蛋白特异性分子伴侣在胶原蛋白生物合成中发挥作用。已经在类风湿性关节炎患者中发现了编码蛋白的自身抗体。该基因的表达可能是癌症的标志，该基因的核苷酸多态性可能与早产胎膜早破引起的早产有关。已观察到该基因的选择性剪接转录变体，该基因的假基因位于 9 号染色体的短臂上。[RefSeq 提供，2011 年 5 月]

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 基因产物(2)

mRNA Protein Name
NM_001207014.3 NP_001193943.1 serpin H1 precursor
NM_001235.5 NP_001226.2 serpin H1 precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum-Golgi intermediate compartment IDA
IDA: 通过直接分析推断
15308636 GOA
located in membrane raft IDA
IDA: 通过直接分析推断
25204797 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SERPINH1 蛋白结构

Serpin

Serpin: Serpin (serine protease inhibitor) (48 - 409)

  • 0
  • 100
  • 200
  • 300
  • 418 a.a.
蛋白主名 其他名称

serpin H1

47 kDa heat shock protein

SERPINH1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SERPINH1 P50454 AK2 Homo sapiens P54819
Validated Y2H
32814053
种属内
SERPINH1 P50454 AK2 Homo sapiens P54819
Y2H Array
32814053
种属内
SERPINH1 P50454 AK2 Homo sapiens P54819
Y2H Pooling
32814053
种属内
SERPINH1 P50454 SNX20 Homo sapiens Q7Z614-3
Validated Y2H
32814053
种属内
SERPINH1 P50454 SNX20 Homo sapiens Q7Z614-3
Y2H Array
32814053
种属内
SERPINH1 P50454 SNX20 Homo sapiens Q7Z614-3
Y2H Pooling
32814053
种属内
SERPINH1 P50454 COL25A1 Homo sapiens Q8NE08
Y2H Pooling
32814053
种属内
SERPINH1 P50454 COL25A1 Homo sapiens Q8NE08
Validated Y2H
32814053
种属内
SERPINH1 P50454 COL25A1 Homo sapiens Q8NE08
Y2H Array
32814053
种属内
SERPINH1 P50454 ITGAV Homo sapiens P06756
Validated Y2H
32814053
种属内
SERPINH1 P50454 ITGAV Homo sapiens P06756
Y2H Array
32814053
种属内
SERPINH1 P50454 ITGAV Homo sapiens P06756
Y2H Pooling
32814053
种属内
SERPINH1 P50454 MYNN Homo sapiens Q9NPC7
Validated Y2H
32814053
种属内
SERPINH1 P50454 MYNN Homo sapiens Q9NPC7
Y2H Array
32814053
种属内
SERPINH1 P50454 MYNN Homo sapiens Q9NPC7
Y2H Pooling
32814053
种属内
SERPINH1 P50454 PSMD2 Homo sapiens Q13200
Lumier
32814053
种属内
SERPINH1 P50454 PTN Homo sapiens P21246
Y2H Array
32814053
种属内
SERPINH1 P50454 PTN Homo sapiens P21246
Y2H Pooling
32814053
种属内
SERPINH1 P50454 PTN Homo sapiens P21246
Validated Y2H
32814053
种属内
SERPINH1 P50454 SGCA Homo sapiens Q16586
Y2H Array
32814053
种属内
SERPINH1 P50454 SGCA Homo sapiens Q16586
Y2H Pooling
32814053
种属内
SERPINH1 P50454 SGCA Homo sapiens Q16586
Validated Y2H
32814053
种属内
SERPINH1 P50454 IDH1 Homo sapiens O75874
Y2H Array
32814053
种属内
SERPINH1 P50454 IDH1 Homo sapiens O75874
Validated Y2H
32814053
种属内
SERPINH1 P50454 IDH1 Homo sapiens O75874
Y2H Pooling
32814053
种属内
SERPINH1 P50454 CDH1 Homo sapiens P12830
Validated Y2H
32814053
种属内
SERPINH1 P50454 CDH1 Homo sapiens P12830
Y2H Array
32814053
种属内
SERPINH1 P50454 CDH1 Homo sapiens P12830
Y2H Pooling
32814053
种属内
SERPINH1 P50454 CSNK1D Homo sapiens P48730-2
Validated Y2H
32814053
种属内
SERPINH1 P50454 CSNK1D Homo sapiens P48730-2
Y2H Array
32814053
种属内
SERPINH1 P50454 CSNK1D Homo sapiens P48730-2
Y2H Pooling
32814053
种属内
SERPINH1 P50454 ATXN1 Homo sapiens P54253
Validated Y2H
32814053
种属内
SERPINH1 P50454 ATXN1 Homo sapiens P54253
Y2H Array
32814053
种属内
SERPINH1 P50454 ATXN1 Homo sapiens P54253
Y2H Pooling
32814053
种属内
SERPINH1 P50454 ATXN3 Homo sapiens P54252
Y2H Array
32814053
种属内
SERPINH1 P50454 ATXN3 Homo sapiens P54252
Y2H Pooling
32814053
种属内
SERPINH1 P50454 ATXN3 Homo sapiens P54252
Validated Y2H
32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 SERPINH1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71298 Serpin H1 Protein, Human (HEK293, His) P50454 (A19-L418) ≥95%

关联疾病

疾病名称 别名
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]
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12728 SERPINH1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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