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  2. GMDS - GDP-mannose 4,6-dehydratase Gene

GMDS - GDP-mannose 4,6-dehydratase Gene

中文名称:GDP-甘露糖 4,6-脱水酶

种属: Homo sapiens

同用名: GMD; SDR3E1

基因 ID: 2762 | 基因类型: protein coding

关于 GMDS

Cytogenetic location: 6p25.3 Genomic coordinates (GRCh38): 6:1,623,806-2,245,605 (from NCBI)

This gene has 10 transcripts (splice variants), 214 orthologues and 10 paralogues. Broad expression in colon (RPKM 6.8), stomach (RPKM 6.6) and 23 other tissues.

功能概要

GDP-甘露糖 4,6-脱水酶 (GMD; EC 4.2.1.47) 催化 GDP-甘露糖转化为 GDP-4-keto-6-deoxymannose,这是从 GDP-甘露糖合成 GDP-岩藻糖的第一步,使用 NADP+ 作为辅助因子。该途径的第二步和第三步由单一酶 GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase 催化,在人类中指定为 FX (MIM 137020) 。[OMIM 提供,2009 年 8 月]

GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single Enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009]

GMDS 基因产物(2)

mRNA Protein Name
NM_001253846.2 NP_001240775.1 GDP-mannose 4,6 dehydratase isoform 2
NM_001500.4 NP_001491.1 GDP-mannose 4,6 dehydratase isoform 1

GMDS 蛋白结构

Epimerase

Epimerase: NAD dependent epimerase/dehydratase family (26 - 274)

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

GDP-mannose 4,6 dehydratase

GDP-D-mannose dehydratase

GMDS 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
GMDS O60547 NTAQ1 Homo sapiens Q96HA8 32296183
种属内
GMDS O60547 NTAQ1 Homo sapiens Q96HA8 25416956
种属内
GMDS O60547 NTAQ1 Homo sapiens Q96HA8 25416956
种属内
GMDS O60547 GMDS Homo sapiens O60547 32296183
种属内
GMDS O60547 GMDS Homo sapiens O60547 31515488
种属内
GMDS O60547 GMDS Homo sapiens O60547 32296183
种属内
GMDS O60547 TAE1 Saccharomyces cerevisiae P38340 27107014
种属内
GMDS O60547 TNKS Homo sapiens O95271 33961781
种属内
GMDS O60547 GMDS Homo sapiens O60547 25416956
种属内
GMDS O60547 TNKS Homo sapiens O95271 28514442
种属内
GMDS O60547 GMDS Homo sapiens O60547 32296183
种属内
GMDS O60547 TAE1 Saccharomyces cerevisiae P38340 27107014
种属内
GMDS O60547 TNKS2 Homo sapiens Q9H2K2 28514442
种属内
GMDS O60547 GMDS Homo sapiens O60547 16189514
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
Congenital Disorder Of Glycosylation, Type Iic

CDG2C

Congenital Disorder Of Glycosylation Type Iic

Leukocyte Adhesion Deficiency Type Ii

Cdg Iic

Cdgiic

Rambam-Hasharon Syndrome

Leukocyte Adhesion Deficiency, Type Ii

Lad2

Leukocyte Adhesion Deficiency 2

Cdg-Iic

Congenital Disorder Of Glycosylation, Type 2c

Rhs

Cdg Syndrome Type Iic

Lad-Ii

Rambam Hasharon Syndrome

Congenital Disorder Of Glycosylation 2c

Glycosylation, Congenital Disorder Of, Type Iic

Partial Fetal Alcohol Syndrome
Non-Syndromic X-Linked Intellectual Disability Arx-Related

Arx-Related Intellectual Disability

Mrxarx

X-Linked Mental Retardation 29

X-Linked Mental Retardation 29 And Others

X-Linked Mental Retardation 32

X-Linked Mental Retardation 33

X-Linked Mental Retardation 38

X-Linked Mental Retardation 43

X-Linked Mental Retardation 76

X-Linked Mental Retardation 87

X-Linked Mental Retardation With Or Without Seizures Arx-Related

Mental Retardation, X-Linked, Type 29 And Others

Anterior Segment Dysgenesis 3

Iridogoniodysgenesis, Type 1

Irid1

Iridogoniodysgenesis Anomaly, Autosomal Dominant

Igda

ASGD3

Iris Hypoplasia With Glaucoma

Glaucoma Iridogoniodysplasia, Familial

Anterior Segment Dysgenesis 3, Multiple Subtypes

Iridogoniodysgenesis Type 1

Glaucoma Iridogoniodysgenesia

Igda Syndrome

Iridogoniodysgenesis Anomaly

Traumatic Glaucoma

Glaucoma Associated With Ocular Trauma

Retinitis Pigmentosa 20

RP20

Retinitis Pigmentosa, Type 20

Axenfeld-Rieger Syndrome, Type 1

Axenfeld-Rieger Syndrome Type 1

RIEG1

Rieg

Rgs

Rieger Syndrome Type 1

Rieger Syndrome, Type 1

Axenfeld-Rieger Syndrome 1

Iridogoniodysgenesis With Somatic Anomalies

Myopathy, Centronuclear, 2

Myopathy, Centronuclear, Autosomal Recessive

Autosomal Recessive Centronuclear Myopathy

CNM2

Centronuclear Myopathy 2

Ar-Cnm

Myotubular Myopathy, Autosomal Recessive

Autosomal Recessive Myotubular Myopathy

Centronuclear Myopathy Autosomal Recessive

Myopathy, Centronuclear, Type 2

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E

Primary Open Angle Glaucoma

POAG

Adult-Onset Primary Open Angle Glaucoma

Chronic Simple Glaucoma

GLC1E

Primary Open Angle Glaucoma 1e

Glaucoma, Open Angle, Primary

Primary Congenital Glaucoma
Axenfeld-Rieger Syndrome

Axenfeld Syndrome

Rieger Syndrome

Rieger Anomaly

Axenfeld Anomaly

Anomaly, Rieger'S

Hagedoom Syndrome

Rgs - Rieger Syndrome

Rieger'S Anomaly

Goniodysgenesis Hypodontia

Iridogoniodysgenesis With Somatic Anomalies

Ars

Axenfeld And Rieger Anomaly

Axra

Axrs

Rieger Eye Malformation Sequence

Peters-Plus Syndrome

Krause-Kivlin Syndrome

Peters Plus Syndrome

Peters Anomaly

Irido-Corneo-Trabecular Dysgenesis

PTRPLS

Peters Anomaly With Short-Limb Dwarfism

Peters Anomaly-Short Limb Dwarfism Syndrome

Peters Anomaly With Short Limb Dwarfism

Peters Congenital Glaucoma

Krause-Van Schooneveld-Kivlin Syndrome

Peters' Plus Syndrome

Peters'-Plus Syndrome

Anomaly Peters

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3

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
Rattus norvegicus GMDS RGD RGD:1311008
Macaca mulatta GMDS VGNC VGNC:73079
Mus musculus GMDS MGD MGI:1891112
Canis familiaris GMDS VGNC VGNC:58303
Felis catus GMDS VGNC VGNC:62604
Bos taurus GMDS VGNC VGNC:55901