2. Gene
  3. UXS1 - UDP-glucuronate decarboxylase 1 Gene

UXS1 - UDP-glucuronate decarboxylase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：UDP-葡萄糖醛酸脱羧酶 1

种属: Homo sapiens

同用名: UGD; hUXS; hUXS1; SDR6E1

基因 ID: 80146 | 基因类型: protein coding

关于 UXS1

Cytogenetic location: 2q12.2 Genomic coordinates (GRCh38): 2:106,093,311-106,194,301 (from NCBI)

This gene has 15 transcripts (splice variants), 210 orthologues and 10 paralogues. Ubiquitous expression in kidney (RPKM 16.4), placenta (RPKM 15.1) and 25 other tissues.

功能概要

该基因编码一种在核周高尔基体中发现的酶，该酶催化 UDP-木糖的合成，用于蛋白聚糖上的糖胺聚糖 (GAG) 合成。 GAG 链共价连接到参与发育过程中信号通路的蛋白多糖。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2014 年 12 月]

This gene encodes an enzyme found in the perinuclear Golgi which catalyzes the synthesis of UDP-xylose used in glycosaminoglycan (GAG) synthesis on proteoglycans. The GAG chains are covalently attached to proteoglycans which participate in signaling pathways during development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

UXS1 基因产物(9)

mRNA Protein Name
NM_001253875.2 NP_001240804.1 UDP-glucuronic acid decarboxylase 1 isoform 1
NM_001253876.2 NP_001240805.1 UDP-glucuronic acid decarboxylase 1 isoform 3
NM_001377504.1 NP_001364433.1 UDP-glucuronic acid decarboxylase 1 isoform 4
NM_001377505.1 NP_001364434.1 UDP-glucuronic acid decarboxylase 1 isoform 5
NM_001377506.1 NP_001364435.1 UDP-glucuronic acid decarboxylase 1 isoform 6
NM_001377507.1 NP_001364436.1 UDP-glucuronic acid decarboxylase 1 isoform 7
NM_001377508.1 NP_001364437.1 UDP-glucuronic acid decarboxylase 1 isoform 8
NM_001377509.1 NP_001364438.1 UDP-glucuronic acid decarboxylase 1 isoform 9
NM_025076.5 NP_079352.2 UDP-glucuronic acid decarboxylase 1 isoform 2
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 NAD+ binding IDA
IDA: 通过直接分析推断
22810237 GOA
enables UDP-glucuronate decarboxylase activity IDA
IDA: 通过直接分析推断
22810237 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
23656592 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
23656592 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in UDP-D-xylose biosynthetic process IDA
IDA: 通过直接分析推断
22810237 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of catalytic complex IDA
IDA: 通过直接分析推断
23656592 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

UXS1 蛋白结构

UXS1_N

UXS1_N: UDP-glucuronate decarboxylase N-terminal (1 - 78)

Epimerase

Epimerase: NAD dependent epimerase/dehydratase family (91 - 324)

  • 0
  • 100
  • 200
  • 300
  • 420 a.a.
蛋白主名 其他名称

UDP-glucuronic acid decarboxylase 1

UXS-1

关联疾病

疾病名称 别名
Fungal Meningitis

Meningitis, Fungal

Mycotic Meningitis
Cryptococcal Meningitis

Meningitis, Cryptococcal

Meningitis Cryptococcal
Cryptococcosis

Cryptococcus Neoformans Infection

Torulosis

Busse-Buschke'S Disease

Cryptococcal Infection

European Cryptococcosis

Torula

Infection By Cryptococcus Neoformans

Cryptococcosis Infection

European Blastomycosis

European Blastomycotic Infection

European Blastomycoses Infection

Torula Histolytica Infection
Hemophagocytic Lymphohistiocytosis, Familial, 1

Familial Hemophagocytic Lymphohistiocytosis

Fhl

Familial Erythrophagocytic Lymphohistiocytosis

Hemophagocytic Syndrome

FHL1

Hplh1

Hlh1

Fel

Familial Hemophagocytic Lymphohistiocytosis 1

Primary Hemophagocytic Lymphohistiocytosis

Familial Hlh

Hlh

Familial Hemophagocytic Lymphocytosis

Hemophagocytic Lymphohistiocytosis, Familial

Reticulosis, Familial Histiocytic

Hemophagocytic Reticulosis, Familial

Erythrophagocytic Lymphohistiocytosis, Familial

Familial Histiocytic Reticulosis

Familial Hemophagocytic Histiocytosis

Familial Hemophagocytic Reticulosis

Fhlh

Hplh

Primary Hemophagocytic Hymphohistiocytosis

Genetic Hemophagocytic Lymphohistiocytosis

Hemophagocytic Lymphohistiocytosis

Familial Hemophagocytic Lymphohistiocytosis Type 1
Hemophagocytic Lymphohistiocytosis, Familial, 2

Familial Hemophagocytic Lymphohistiocytosis 2

FHL2

Hplh2

Hlh2

Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To

Lymphohistiocytosis, Hemophagocytic, Familial, Type 2
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15590 UXS1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21455 Uxs1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS27973 Uxs1 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 UXS1 VGNC VGNC:36753
Mus musculus UXS1 MGD MGI:1915133
Rattus norvegicus UXS1 RGD RGD:628680
Felis catus UXS1 VGNC VGNC:83478
Macaca mulatta UXS1 VGNC VGNC:79083
Canis familiaris UXS1 VGNC VGNC:48220
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