1. Gene
  2. PPIB - peptidylprolyl isomerase B Gene

PPIB - peptidylprolyl isomerase B Gene

中文名称:肽基脯氨酰异构酶 B

种属: Homo sapiens

同用名: OI9; CYPB; SCYLP; CYP-S1; HEL-S-39

基因 ID: 5479 | 基因类型: protein coding

关于 PPIB

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:64,155,817-64,163,022 (from NCBI)

This gene has 7 transcripts (splice variants), 211 orthologues, 22 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 295.6), placenta (RPKM 241.5) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种环孢菌素结合蛋白,主要位于内质网内。它与分泌途径相关并在生物体液中释放。这种蛋白质可以与 T 淋巴细胞和 B 淋巴细胞衍生的细胞结合,并可以调节环孢菌素 A 介导的免疫抑制。已在这种蛋白质中鉴定出变异,这些变异会导致成骨不全症的隐性形式。[RefSeq 提供,2009 年 10 月]

The protein encoded by this gene is a cyclosporine-binding protein and is mainly located within the endoplasmic reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind to cells derived from T- and B-lymphocytes, and may regulate cyclosporine A-mediated immunosuppression. Variants have been identified in this protein that give rise to recessive forms of osteogenesis imperfecta. [provided by RefSeq, Oct 2009]

PPIB 基因产物(1)

mRNA Protein Name
NM_000942.5 NP_000933.1 peptidyl-prolyl cis-trans isomerase B precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables RNA polymerase binding IPI
IPI: 通过物理相互作用推断
15989969 GOA
enables peptidyl-prolyl cis-trans isomerase activity IDA
IDA: 通过直接分析推断
20676357 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15095401 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in bone development IMP
IMP: 通过突变表型推断
20089953 GOA
involved in chaperone-mediated protein folding IDA
IDA: 通过直接分析推断
22665516 GOA
NOT involved in chaperone-mediated protein folding IMP
IMP: 通过突变表型推断
20089953 GOA
involved in neutrophil chemotaxis IDA
IDA: 通过直接分析推断
11688976 GOA
involved in positive regulation by host of viral genome replication IMP
IMP: 通过突变表型推断
15989969 GOA
involved in positive regulation by host of viral process IMP
IMP: 通过突变表型推断
15989969 GOA
involved in positive regulation of multicellular organism growth IMP
IMP: 通过突变表型推断
20089953 GOA
involved in protein stabilization IMP
IMP: 通过突变表型推断
20089953 GOA
NOT involved in regulation of post-translational protein modification IMP
IMP: 通过突变表型推断
20089953 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
20089953 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
15989969 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

PPIB 蛋白结构

Pro_isomerase

Pro_isomerase: Cyclophilin type peptidyl-prolyl cis-trans isomerase/CLD (49 - 203)

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

peptidyl-prolyl cis-trans isomerase B

PPIase B

重组 PPIB 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70011 Cyclophilin B/PPIB Protein, Human (HEK293, C-His, solution) P23284 (D34-A212) ≥95%
HY-P70011A Cyclophilin B/PPIB Protein, Human (HEK293, His) P23284 (D34-A212) ≥95%

关联疾病

疾病名称 别名
Osteogenesis Imperfecta, Type Ix

Osteogenesis Imperfecta Type 9

Osteogenesis Imperfecta Type Ix

OI9

Oi Type Ix

Osteogenesis Imperfecta Sillence Type Ii/Iii Without Abnormality Of Type I Collagen

Oi, Type Ix

Oi 9

Osteogenesis Imperfecta 9

Oi-Ix

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

Osteogenesis Imperfecta, Type Iv

Osteogenesis Imperfecta Type 4

Osteogenesis Imperfecta Type Iv

OI4

Oi, Type Iv

Osteogenesis Imperfecta With Normal Sclerae

Oi Type Iv

Oi Type 4

Osteogenesis Imperfecta With Normal Sclera

Common Variable Oi With Normal Sclerae

Osteogenesis Imperfecta 4

Oi-Iv

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

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

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

Osteogenesis Imperfecta, Type Vii

Osteogenesis Imperfecta Type 7

Osteogenesis Imperfecta Type Vii

OI7

Oi Type Vii

Oi, Type Vii

Osteogenesis Imperfecta, Type Iib, Formerly

Oi2b, Formerly

Oi Type 7

Osteogenesis Imperfecta 7

Oi2b

Oi-Iib

Oi Type Iib

Oi-Vii

Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive

Osteogenesis Imperfecta Type Ii Autosomal Recessive

Osteogenesis Imperfecta Type Iib

Measles

Rubeola

Morbilli

Measles Nos

Koplik Spots

Joubert Syndrome 8

JBTS8

Joubert Syndrome, Type 8

Bruck Syndrome

Osteogenesis Imperfecta With Congenital Joint Contractures

Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome

Myopathy, Tubular Aggregate, 1

Tubular Aggregate Myopathy

Tam

Myopathy With Tubular Aggregates

TAM1

Myopathy, Tubular Aggregate

Tubular Aggregate Myopathy 1

Ehlers-Danlos Syndrome, Classic Type, 1

Ehlers-Danlos Syndrome, Type I

EDSCL1

Ehlers-Danlos Syndrome Classic Type 1

Ehlers-Danlos Syndrome Type 1

Ehlers-Danlos Syndrome, Type I, Formerly

Eds1, Formerly

Ehlers-Danlos Syndrome, Severe Classic Type, Formerly

Eds I, Formerly

Ehlers-Danlos Syndrome, Gravis Type, Formerly

Ehlers-Danlos Syndrome, Type 1

Type I Ehlers-Danlos Syndrome

Eds1

Eds I

Ehlers-Danlos Syndrome, Gravis Type

Ehlers-Danlos Syndrome, Severe Classic Type

Ehlers-Danlos Syndrome 1

Ehlers-Danlos, Classic Syndrome, Type 1

Ehlers-Danlos Syndrome Type 2

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus PPIB VGNC VGNC:33195
Macaca mulatta PPIB VGNC VGNC:99227
Mus musculus PPIB MGD MGI:97750
Canis familiaris PPIB VGNC VGNC:44849
Felis catus PPIB VGNC VGNC:104577
Rattus norvegicus PPIB RGD RGD:620312
Others PPIB NCBI