1. Gene
  2. PIGQ - phosphatidylinositol glycan anchor biosynthesis class Q Gene

PIGQ - phosphatidylinositol glycan anchor biosynthesis class Q Gene

中文名称:磷脂酰肌醇聚糖锚生物合成类 Q

种属: Homo sapiens

同用名: GPI1; DEE77; EIEE77; MCAHS4; GPIBD19; c407A10.1

基因 ID: 9091 | 基因类型: protein coding

关于 PIGQ

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:569,968-584,109 (from NCBI)

This gene has 25 transcripts (splice variants), 207 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 21.8), kidney (RPKM 15.6) and 25 other tissues.

功能概要

该基因参与糖基磷脂酰肌醇 (GPI) -锚生物合成的第一步。 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。该基因编码 N-乙酰氨基葡萄糖转移酶成分,该成分是催化 N-乙酰氨基葡萄糖 (GlcNAc) 从 UDP-GlcNAc 转移到磷脂酰肌醇 (PI) 的复合物的一部分。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2012 年 6 月]

This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

PIGQ 基因产物(2)

mRNA Protein Name
NM_004204.5 NP_004195.2 phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 2
NM_148920.4 NP_683721.1 phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
9463366 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
16162815 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
16162815 GOA
part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IDA
IDA: 通过直接分析推断
16162815 GOA
part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IPI
IPI: 通过物理相互作用推断
16162815 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

PIGQ 蛋白结构

Gpi1

Gpi1: N-acetylglucosaminyl transferase component (Gpi1) (274 - 463)

  • 0
  • 200
  • 400
  • 600
  • 760 a.a.
蛋白主名 其他名称

phosphatidylinositol N-acetylglucosaminyltransferase subunit Q

N-acetylglucosaminyl transferase component Gpi1

PIGQ 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
PIGQ Q9BRB3 DPM2 Homo sapiens O94777 10944123
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4

MCAHS4

Glycosylphosphatidylinositol Biosynthesis Defect 19

Gpibd19

Developmental And Epileptic Encephalopathy 77

Epileptic Encephalopathy, Early Infantile, 77

Dee77

Eiee77

Developmental And Epileptic Encephalopathy, 77

Early Infantile Epileptic Encephalopathy 77

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome-4

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

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

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Pign-Cdg

Congenital Disorder Of Glycosylation Due To Pign Deficiency

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

Mcahs1

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

Alzheimer Disease 2

AD2

Alzheimer Disease Associated With Apoe4

Alzheimer'S Disease 2

Alzheimer Disease-2

Alzheimer Disease 2, Late-Onset

Alzheimer Disease 2, Late Onset

Late-Onset Alzheimer Disease

Alzheimer Disease, Type 2

Alzheimer Disease, Late Onset

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3

MCAHS3

Glycosylphosphatidylinositol Biosynthesis Defect 7

Gpibd7

Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome

Congenital Disorder Of Glycosylation Due To Pigt Deficiency

Mcahs Type 3

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3

Pigt-Cdg

Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 3

Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome

Chime Syndrome

Zunich Neuroectodermal Syndrome

Zunich-Kaye Syndrome

CHIME

Glycosylphosphatidylinositol Biosynthesis Defect 5

Gpibd5

Coloboma-Congenital Heart Disease-Ichthyosiform Dermatosis-Intellectual Disability-Ear Anomalies Syndrome

Congenital Disorder Of Glycosylation Due To Pigl Deficiency

Neuroectodermal Dysplasia, Chime Type

Neuroectodermal Syndrome, Zunich Type

Pigl-Cdg

Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability And Ear Anomalies Syndrome

Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, And Ear Anomalies Syndrome

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

MCAHS2

Glycosylphosphatidylinositol Biosynthesis Defect 4

Developmental And Epileptic Encephalopathy 20

Epileptic Encephalopathy, Early Infantile, 20

Eiee20

Gpibd4

Early Infantile Epileptic Encephalopathy 20

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 2

Mcahs Type 2

Dee20

Fccs

Ferro-Cerebro-Cutaneous Syndrome

Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 2

Acute Contagious Conjunctivitis

Pink Eye

Contagious Opthalmia

Pinkeye

Conjunctivitis

Keratoconjunctivitis Due To Mycoplasma Conjunctivae

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

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
Felis catus PIGQ VGNC VGNC:64166
Rattus norvegicus PIGQ RGD RGD:1359535
Canis familiaris PIGQ VGNC VGNC:44539
Mus musculus PIGQ MGD MGI:1333114
Bos taurus PIGQ VGNC VGNC:32875
Macaca mulatta PIGQ VGNC VGNC:75798