UAP1 - UDP-N-acetylglucosamine pyrophosphorylase 1 Gene

中文名称：UDP-N-乙酰葡糖胺焦磷酸化酶 1

种属: Homo sapiens

同用名: AGX; AGX1; AGX2; SPAG2

基因 ID: 6675 | 基因类型: protein coding

关于 UAP1

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:162,561,531-162,601,240 (from NCBI)

This gene has 5 transcripts (splice variants), 215 orthologues and 2 paralogues. Broad expression in testis (RPKM 52.4), liver (RPKM 41.2) and 25 other tissues.

功能概要

实现相同的蛋白质结合活性。预计参与 UDP-N-乙酰葡糖胺生物合成过程。位于胞质溶胶中；核质；和质膜。 [由基因组资源联盟提供，2022 年 4 月]

Enables identical protein binding activity. Predicted to be involved in UDP-N-acetylglucosamine biosynthetic process. Located in cytosol; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

UAP1 基因产物(12)

mRNA	Protein	Name
NM_001324113.2	NP_001311042.1	UDP-N-acetylhexosamine pyrophosphorylase isoform a
NM_001324114.2	NP_001311043.1	UDP-N-acetylhexosamine pyrophosphorylase isoform a
NM_001324115.3	NP_001311044.1	UDP-N-acetylhexosamine pyrophosphorylase isoform a
NM_001324116.5	NP_001311045.1	UDP-N-acetylhexosamine pyrophosphorylase isoform b
NM_001324117.3	NP_001311046.1	UDP-N-acetylhexosamine pyrophosphorylase isoform c
NM_001388401.1	NP_001375330.1	UDP-N-acetylhexosamine pyrophosphorylase isoform b
NM_001388402.1	NP_001375331.1	UDP-N-acetylhexosamine pyrophosphorylase isoform b
NM_001399790.1	NP_001386719.1	UDP-N-acetylhexosamine pyrophosphorylase isoform a
NM_001399791.1	NP_001386720.1	UDP-N-acetylhexosamine pyrophosphorylase isoform b
NM_001399792.1	NP_001386721.1	UDP-N-acetylhexosamine pyrophosphorylase isoform d
NM_001399793.1	NP_001386722.1	UDP-N-acetylhexosamine pyrophosphorylase isoform e
NM_003115.6	NP_003106.3	UDP-N-acetylhexosamine pyrophosphorylase isoform a

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 identical protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA
enables protein serine pyrophosphorylase activity	IDA IDA: 通过直接分析推断	36603579	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in antiviral innate immune response	IDA IDA: 通过直接分析推断	36603579	GOA
involved in positive regulation of type I interferon production	IDA IDA: 通过直接分析推断	36603579	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
is active in cytosol	IDA IDA: 通过直接分析推断	8025165	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

UAP1 蛋白结构

UDPGP

0
100
200
300
400
522 a.a.

蛋白主名

其他名称

UDP-N-acetylhexosamine pyrophosphorylase

UDP-N-acetylglucosamine diphosphorylase 1

重组 UAP1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P71817	UAP1 Protein, Human (P.pastoris, His)	Q16222 (1M-522I)	≥95%

关联疾病

疾病名称

别名

Deafness, Autosomal Recessive 109

DFNB109	Autosomal Recessive Nonsyndromic Deafness 109
Autosomal Recessive Deafness 109	Deafness, Autosomal Recessive, 109

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

Galactosemia Iii

Galactose Epimerase Deficiency	Gale Deficiency
Udp-Galactose-4-Epimerase Deficiency	Epimerase Deficiency Galactosemia
Galactosemia Type 3	Gale-D
Uridine Diphosphate Galactose-4-Epimerase Deficiency	GALAC3
Galactosemia 3	Generalized Uridine Diphosphate Galactose-4-Epimerase Deficiency
Erythrocyte Uridine Diphosphate Galactose-4-Epimerase Deficiency	Galactosemia Type Iii
Udp-Galactose-4'-Epimerase Deficiency	Generalized Galactose Epimerase Deficiency
Generalized Gale Deficiency	Generalized Gale-D
Generalized Udp-Galactose-4-Epimerase Deficiency	Generalized Epimerase Deficiency Galactosemia
Erythrocyte Galactose Epimerase Deficiency	Erythrocyte Gale Deficiency
Erythrocyte Gale-D	Erythrocyte Udp-Galactose-4-Epimerase Deficiency
Erythrocyte Epimerase Deficiency Galactosemia	Galactosemias
Classical Galactosemia	Udpglucose 4-Epimerase Deficiency Disease

Dystonia 16

DYT16	Dyt-Prkra
Dystonia-16	Young-Onset Dystonia-
Early-Onset Dystonia Parkinsonism	Dystonia, Type 16

Armfield Syndrome

X-Linked Intellectual Disability, Armfield Type	Armfield X-Linked Mental Retardation Syndrome
Mental Retardation Syndrome, X-Linked, Armfield Type	Mrxsa
Syndromic X-Linked Mental Retardation Armfield Type

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-RS15317	UAP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS15318	UAP1L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	UAP1	VGNC	VGNC:36559
Rattus norvegicus	UAP1	RGD	RGD:1561967
Canis familiaris	UAP1	VGNC	VGNC:48035
Mus musculus	UAP1	MGD	MGI:1334459
Felis catus	UAP1	VGNC	VGNC:66744
Macaca mulatta	UAP1	VGNC	VGNC:78685
Others	UAP1	NCBI

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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）

UAP1 - UDP-N-acetylglucosamine pyrophosphorylase 1 Gene

关于 UAP1

功能概要

UAP1 基因产物(12)

UAP1 蛋白结构

重组 UAP1 蛋白

关联疾病

直系同源

热门区域

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UAP1 - UDP-N-acetylglucosamine pyrophosphorylase 1 Gene

关于 UAP1

功能概要

UAP1 基因产物(12)

UAP1 蛋白结构

重组 UAP1 蛋白

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z