PGM1 - phosphoglucomutase 1 Gene

中文名称：磷酸葡萄糖变位酶 1

种属: Homo sapiens

同用名: CDG1T; GSD14

基因 ID: 5236 | 基因类型: protein coding

关于 PGM1

Cytogenetic location: 1p31.3 Genomic coordinates (GRCh38): 1:63,593,411-63,660,245 (from NCBI)

This gene has 6 transcripts (splice variants), 201 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 59.8), liver (RPKM 51.7) and 25 other tissues.

功能概要

该基因编码的蛋白质是磷酸葡萄糖变位酶 (PGM) 的同工酶，属于磷酸己糖变位酶家族。有几种 PGM 同工酶，它们由不同的基因编码并催化磷酸盐在葡萄糖的 1 位和 6 位之间转移。在大多数细胞类型中，这种 PGM 同工酶占主导地位，约占总 PGM 活性的 90%。在红细胞中，PGM2 是主要的同工酶。该基因具有高度多态性。该基因的突变导致 14 型糖原贮积病。已在该基因中鉴定出编码不同亚型的交替剪接转录变体。[RefSeq 提供，2010 年 3 月]

The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]

PGM1 基因产物(3)

mRNA	Protein	Name
NM_001172818.1	NP_001166289.1	phosphoglucomutase-1 isoform 2
NM_001172819.2	NP_001166290.1	phosphoglucomutase-1 isoform 3
NM_002633.3	NP_002624.2	phosphoglucomutase-1 isoform 1

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables magnesium ion binding	IDA IDA: 通过直接分析推断	26972339	GOA
enables phosphoglucomutase activity	IDA IDA: 通过直接分析推断	1530890	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	21044950	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in galactose catabolic process via UDP-galactose	IMP IMP: 通过突变表型推断	30982613	GOA
involved in glucose metabolic process	IDA IDA: 通过直接分析推断	25288802	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

PGM1 蛋白结构

PGM_PMM_I

PGM_PMM_II

PGM_PMM_III

PGM_PMM_IV

0
100
200
300
400
500
562 a.a.

蛋白主名

其他名称

phosphoglucomutase-1

PGM 1

PGM1 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	PGM1	P36871	TINF2	Homo sapiens	Q9BSI4	Pull Down	21044950
种属内	PGM1	P36871	TINF2	Homo sapiens	Q9BSI4	BiFC	21044950

种属间: 跨种属相互作用 种属内: 同种属相互作用

PGM1 抗体

目录号	产品名	应用	反应物种
HY-P81858	PGM1 Antibody (YA1603)	WB, ICC/IF, IP	Human, Mouse, Rat

关联疾病

疾病名称

别名

Congenital Disorder Of Glycosylation, Type It

CDG1T	Glycogen Storage Disease Xiv
Cdg It	Cdgit
Phosphoglucomutase 1 Deficiency	Pgm1 Deficiency
Gsd14	Gsd Xiv
Congenital Disorder Of Glycosylation 1t	Pgm1-Cdg
Cdg-It	Congenital Disorder Of Glycosylation Type It
Congenital Disorder Of Glycosylation It	Cdg Syndrome Type It
Congenital Disorder Of Glycosylation Type 1t	Pgm1-Related Congenital Disorder Of Glycosylation
Phosphoglucomutase-1 Deficiency	Glycosylation, Congenital Disorder Of, Type It

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

Fetal Macrosomia

Congenital Disorder Of Glycosylation, Type Iik

CDG2K	Congenital Disorder Of Glycosylation Type Iik
Cdg Iik	Cdgiik
Carbohydrate Deficient Glycoprotein Syndrome Type Iik	Cdg Syndrome Type Iik
Congenital Disorder Of Glycosylation Type 2k	Tmem165-Cdg
Cdg-Iik	Cdgiidk
Congenital Disorder Of Glycosylation 2k	Glycosylation, Congenital Disorder Of, Type Iik

Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii	CDG2E
Congenital Disorder Of Glycosylation Type Iie	IMD47
Cdg2s	Cdg Iis
Cdgiis	Immunodeficiency And Hepatopathy With Or Without Neurologic Features
Congenital Disorder Of Glycosylation, Type Ii	CDG1I
Congenital Disorder Of Glycosylation, Type Iie	Cdg Iie
Congenital Disorder Of Glycosylation Type 2e	Congenital Disorder Of Glycosylation, Type Iis
Cdg Ii	Cdgii
Cdgiie	Carbohydrate Deficient Glycoprotein Syndrome Type Iie
Cdg Syndrome Type Iie	Congenital Disorder Of Glycosylation Ii
Congenital Disorder Of Glycosylation 1i	Cdg-Iie
Alg2-Cdg	Cdg-Ii
Glycosylation, Congenital Disorder Of, Type Ii	Cdgiide
Congenital Disorder Of Glycosylation Type Iis	Cog7-Cdg
Cdg Syndrome Type Ii	Carbohydrate Deficient Glycoprotein Syndrome Type Ii
Congenital Disorder Of Glycosylation Type 1i	Mannosyltransferase 2 Deficiency
Congenital Disorder Of Glycosylation 2e	Congenital Disorder Of Glycosylation 2s
Congenital Disorders Of Glycosylation Type Ii	Glycosylation, Congenital Disorder Of, Type Iie
Immunodeficiency, Type 47	Congenital Disorder Of Glycosylation Type 2a

Congenital Disorder Of Glycosylation, Type Iin

CDG2N	Slc39a8-Cdg
Cdg Iin	Congenital Disorder Of Glycosylation Type Iin
Cdgiin	Carbohydrate Deficient Glycoprotein Syndrome Type Iin
Cdg Syndrome Type Iin	Congenital Disorder Of Glycosylation Type 2n
Cdg-Iin	Cdgiidn
Slc39a8 Deficiency	Congenital Disorder Of Glycosylation 2n
Glycosylation, Congenital Disorder Of, Type Iin

Pulmonary Tuberculosis

Tuberculosis, Pulmonary	PTB
Tuberculosis Pulmonary

Glycogen Storage Disease

Glycogenosis	Glycogenoses
Gsd	Storage Disease, Glycogen
Gsd - [Glycogen Storage Disease]	Glycogen Thesaurismosis
Diffuse Glycogenosis	Generalised Glycogen Storage Disease
Generalised Glycogenosis	Generalised Glycogen Storage Disease Of Infants
Glycogen Synthase Deficiency

Galactosemia I

Galactosemia	Galt Deficiency
Classic Galactosemia	Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose-1-Phosphate Uridyltransferase Deficiency	GALAC1
Galactosemia, Classic	Galactosemia Type 1
Galactosemias	Classical Galactosemia
Galactosaemia	Galactose Intolerance
Epimerase Deficiency Galactosemia	Galactokinase Deficiency Disease
Galactose Epimerase Deficiency	Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
Gale Deficiency	Galk Deficiency
Udp-Galactose-4-Epimerase Deficiency Disease	Utp Hexose-1-Phosphate Uridylyltransferase Deficiency
Galactosemia 1	Galactosemia, Duarte Variant
Deficiency Of Galactokinase	Udpglucose 4-Epimerase Deficiency Disease
Classical Galactosaemia	Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency
Classic Galactosaemia	Deficiency Of Hexose-1-Phosphate Uridylyltransferase
Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase	Deficiency Of Galactose-1-Phosphate Uridylyltransferase
Galactose-1-Phosphate Uridyl Transferase Deficiency	Transferase Deficiency Galactosemia
Deficiency Of Uridyl Transferase	Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase
Utp-Hexose-1-Phosphate Uridyltransferase Deficiency

Lymphoplasmacyte-Rich Meningioma

Lymphoplasmocyte-Rich Meningioma

Meningioma

Congenital Disorder Of Glycosylation, Type Iip

CDG2P	Tmem199-Cdg
Cdg Iip	Congenital Disorder Of Glycosylation Type Iip
Cdgiip	Carbohydrate Deficient Glycoprotein Syndrome Type Iip
Cdg Syndrome Type Iip	Congenital Disorder Of Glycosylation Type 2p
Cdg-Iip	Cdgiidp
Congenital Disorder Of Glycosylation 2p

Fructose-1,6-Bisphosphatase Deficiency

Fructose-1,6-Diphosphatase Deficiency	Baker-Winegrad Disease
FBP1D	Fbpase Deficiency
Fructose 1,6 Diphosphatase Deficiency	Fructose 1 Phosphate Aldolase Deficiency
Fbp1 Deficiency	Hereditary Fructose Intolerance Syndrome

Hyperinsulinemic Hypoglycemia

Nesidioblastosis	Islet Cell Hyperplasia
Persistent Hyperinsulinemia Hypoglycemia Of Infancy	Hyperinsulinemic Hypoglycaemia

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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-RS10389	PGM1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	PGM1	VGNC	VGNC:44463
Bos taurus	PGM1	VGNC	VGNC:32793
Mus musculus	PGM1	MGD	MGI:97565
Macaca mulatta	PGM1	VGNC	VGNC:97804
Rattus norvegicus	PGM1	RGD	RGD:3316

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	站点地图隐私声明
沪ICP备15051369号-4 上海工商沪公网安备31011502019417 沪(浦)应急管危经许[2021]201709(QFYS) 营业执照（三证合一）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

PGM1 - phosphoglucomutase 1 Gene

关于 PGM1

功能概要

PGM1 基因产物(3)

PGM1 蛋白结构

PGM1 蛋白互作信息

PGM1 抗体

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

PGM1 - phosphoglucomutase 1 Gene

关于 PGM1

功能概要

PGM1 基因产物(3)

PGM1 蛋白结构

PGM1 蛋白互作信息

PGM1 抗体

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z