PIGM - phosphatidylinositol glycan anchor biosynthesis class M Gene

中文名称：磷脂酰肌醇聚糖锚生物合成 M 类

种属: Homo sapiens

同用名: GPI-MT-I

基因 ID: 93183 | 基因类型: protein coding

关于 PIGM

Cytogenetic location: 1q23.2 Genomic coordinates (GRCh38): 1:160,024,953-160,031,990 (from NCBI)

This gene has 1 transcript (splice variant), 167 orthologues and is associated with 3 phenotypes.

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) 锚是一种糖脂，其核心骨架中包含三个甘露糖分子。 GPI 锚点存在于许多血细胞上，用于将蛋白质锚定到细胞表面。该基因编码甘露糖基转移酶 GPI-MT-I，它将第一个甘露糖转移到内质网腔侧的 GPI。[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 which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

PIGM 基因产物(1)

mRNA	Protein	Name
NM_145167.3	NP_660150.1	GPI mannosyltransferase 1

基因本体论

分子功能

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	28514442	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

PIGM 蛋白结构

Mannosyl_trans

0
100
200
300
400
423 a.a.

蛋白主名

其他名称

GPI mannosyltransferase 1

DPM:GlcN-(acyl-)PI mannosyltransferase

PIGM 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	PIGM	Q9H3S5	STARD7	Homo sapiens	Q9NQZ5	Anti Tag CoIP	33961781
种属内	PIGM	Q9H3S5	STARD7	Homo sapiens	Q9NQZ5	Anti Tag CoIP	28514442

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

Glycosylphosphatidylinositol Biosynthesis Defect 1

Glycosylphosphatidylinositol Deficiency	Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency
GPIBD1	Gpid
Congenital Disorder Of Glycosylation Due To Pigm Deficiency	Pigm-Cdg
Portal Hypertension With Seizures And/Or Macrocephaly	Gpi Deficiency

Portal Vein Thrombosis

Phlebitis Of Portal Vein	Deep Vein Thrombosis Of Portal Vein
Portal Thrombosis	Pvt - [Portal Vein Thrombosis]
Portal Venous Thrombosis	Portal Venous Embolism
Portal Venous Obstruction	Portal Venous Block
Portal Vein Embolism	Portal Vein Block
Portal Obstruction	Portal Embolism
Portal Block	Hepatic Portal Vein Obstruction
Occlusion Of Hepatic Portal Vein	Portal Vein Obstruction

Traumatic Glaucoma

Glaucoma Associated With Ocular Trauma

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

Thrombosis

Thrombosis Of Blood Vessel

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 42

DEE42	Epileptic Encephalopathy, Early Infantile, 42
Eiee42	Developmental And Epileptic Encephalopathy, 42
Early Infantile Epileptic Encephalopathy 42	Encephalopathy, Epileptic, Early Infantile, Type 42

Portal Hypertension

Hypertension, Portal	Hypertension Portal
Pht - [Portal Hypertension]	Portal Htn

Congenital Muscular Dystrophy-Dystroglycanopathy Type A2

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A2	Mddga2
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt2-Related	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A2

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

MCAHS1	Glycosylphosphatidylinositol Biosynthesis Defect 3
Gpibd3	Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 1

Salt And Pepper Syndrome

Salt & Pepper Syndrome

Salt-And-Pepper 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

Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A1	Mddga1
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related

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

Immunodeficiency 23

Cid Due To Pgm3 Deficiency	Combined Immunodeficiency Due To Pgm3 Deficiency
Pgm3-Cdg	Pgm3-Related Congenital Disorder Of Glycosylation
IMD23	Immunodeficiency With Hyper Ige And Cognitive Impairment
Immunodeficiency-Vasculitis-Myoclonus Syndrome	Ivms
Phosphoglucomutase 3 Deficiency	Phosphoglucomutase Deficiency Type 3
Pgm3-Congenital Disorder Of Glycosylation	Agm1 Deficiency
Deficiency Of N-Acetylglucosamine-Phosphate Mutase 1	Deficiency Of Phosphoglucomutase 3
Pgm3 Deficiency	Immunodeficiency, Type 23

Budd-Chiari Syndrome

Hepatic Vein Thrombosis	Chiari Syndrome
BDCHS	Membranous Obstruction Of The Inferior Vena Cava
Budd-Chiari Syndrome, Somatic	Movc
Budd-Chiari Syndrome, Susceptibility To, Somatic	Budd-Chiari Syndrome, Susceptibility To
Membranous Obstruction Of Inferior Vena Cava	Hepatic Vein Block
Obstruction Of Hepatic Veins	Hepatic Vein Obstruction
Hepatic Venous Block

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS10495	PIGM Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS19933	Pigm Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS26435	Pigm Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	PIGM	VGNC	VGNC:32872
Rattus norvegicus	PIGM	RGD	RGD:71041
Mus musculus	PIGM	MGD	MGI:1914806
Canis familiaris	PIGM	VGNC	VGNC:44537
Felis catus	PIGM	VGNC	VGNC:82347
Macaca mulatta	PIGM	VGNC	VGNC:100034
Others	PIGM	NCBI

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