1. Gene
  2. PIGB - phosphatidylinositol glycan anchor biosynthesis class B Gene

PIGB - phosphatidylinositol glycan anchor biosynthesis class B Gene

中文名称:磷脂酰肌醇聚糖锚生物合成 B 类

种属: Homo sapiens

同用名: DEE80; PIG-B; EIEE80; GPI-MT-III

基因 ID: 9488 | 基因类型: protein coding

关于 PIGB

Cytogenetic location: 15q21.3 Genomic coordinates (GRCh38): 15:55,319,222-55,355,648 (from NCBI)

This gene has 12 transcripts (splice variants), 196 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 8.6), prostate (RPKM 5.8) and 25 other tissues.

功能概要

该基因编码位于内质网并参与 GPI 锚生物合成的跨膜蛋白。糖基磷脂酰肌醇 (GPI) 锚是一种在许多血细胞上发现的糖脂,用于将蛋白质锚定到细胞表面。该基因被认为编码多萜醇-磷酸-甘露糖 (Dol-P-Man) 依赖性甘露糖基转移酶家族的成员。[RefSeq 提供,2008 年 7 月]

This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008]

PIGB 基因产物(1)

mRNA Protein Name
NM_004855.5 NP_004846.4 GPI mannosyltransferase 3
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 mannosyltransferase activity IDA
IDA: 通过直接分析推断
8861954 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in GPI anchor biosynthetic process IDA
IDA: 通过直接分析推断
8861954 GOA
involved in mannosylation IDA
IDA: 通过直接分析推断
8861954 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
8861954 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

PIGB 蛋白结构

Glyco_transf_22

Glyco_transf_22: Alg9-like mannosyltransferase family (63 - 449)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 554 a.a.
蛋白主名 其他名称

GPI mannosyltransferase 3

GPI mannosyltransferase III

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 80

DEE80

Glycosylphosphatidylinositol Biosynthesis Defect 20

Gpibd20

Epileptic Encephalopathy, Early Infantile, 80

Eiee80

Developmental And Epileptic Encephalopathy, 80

Early Infantile Epileptic Encephalopathy 80

Acrofrontofacionasal Dysostosis

Acrofrontofacionasal Dysostosis Syndrome

Richieri-Costa-Colletto Syndrome

Affn Dysostosis

Affn Dysostosis 1

Acro Fronto Facio Nasal Dysostosis

Cleft Lip/Palate With Frontonasal Dysostosis And Postaxial Polysyndactyly

Polysyndactyly, Postaxial, Frontonasal Dysostosis And Cleft Lip/Palate

Developmental And Epileptic Encephalopathy 55

DEE55

Glycosylphosphatidylinositol Biosynthesis Defect 14

Gpibd14

Epileptic Encephalopathy, Early Infantile, 55

Eiee55

Developmental And Epileptic Encephalopathy, 55

Early Infantile Epileptic Encephalopathy 55

Encephalopathy, Epileptic, Early Infantile, Type 55

Anterior Segment Dysgenesis 4

Iridogoniodysgenesis Syndrome

Iridogoniodysgenesis, Type 2

Irid2

Iridogoniodysgenesis Type 2

ASGD4

Igds

Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant

Ihga

Irid 1

Irid 2

Iridogoniodysgenesis Type 1

Igds2

Iridogoniodysgenesis Syndrome 2

Iridogoniodysgenesis, Type 1

Dysostosis

Dysostoses

Bleeding Disorder, Platelet-Type, 9

Platelet-Type Bleeding Disorder 9

Glycoprotein Ia Deficiency

BDPLT9

Gp Ia Deficiency

Collagen Platelet Receptor Deficiency

Bleeding Diathesis Due To Integrin Alpha2-Beta1 Deficiency

Bleeding Disorder, Platelet Type 9

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Epiphyseal Dysplasia, Multiple, 1

EDM1

Multiple Epiphyseal Dysplasia 1

Multiple Epiphyseal Dysplasia Type 1

Med1

Multiple Epiphyseal Dysplasia Comp-Related

Polyepiphyseal Dysplasia Type 1

Multiple Epiphyseal Dysplasia, Comp-Related

Epiphyseal Dysplasia Multiple 1

Epiphyseal Dysplasia, Multiple 1

Dysplasia, Epiphyseal, Multiple, Type 1

Polyneuropathy

Polyneuropathies

Lissencephaly 8

LIS8

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome

Door Syndrome

Doors Syndrome

Digitorenocerebral Syndrome

Autosomal Recessive Deafness-Onychodystrophy Syndrome

Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome

DOORS

Drc Syndrome

Eronen Syndrome

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Brachydactyly Due To Absence Of Distal Phalanges

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome

Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome

Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome

Deafness, Congenital Onychodystrophy, Recessive Form

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

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
Canis familiaris PIGB VGNC VGNC:59124
Rattus norvegicus PIGB RGD RGD:1307251
Felis catus PIGB VGNC VGNC:68843
Mus musculus PIGB MGD MGI:1891825
Bos taurus PIGB VGNC VGNC:97300
Macaca mulatta PIGB VGNC VGNC:75985