GMDS - GDP-mannose 4,6-dehydratase Gene

Also Known as GMD; SDR3E1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2762

About 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.

Summary

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 Products (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 Protein Structure

Epimerase

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

  • 0
  • 100
  • 200
  • 300
  • 372 a.a.
Protein Preferred Names Protein Names

GDP-mannose 4,6 dehydratase

  • GDP-D-mannose dehydratase

GMDS Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GMDS O60547 NTAQ1 Homo sapiens Q96HA8 32296183
Intra
GMDS O60547 NTAQ1 Homo sapiens Q96HA8 25416956
Intra
GMDS O60547 NTAQ1 Homo sapiens Q96HA8 25416956
Intra
GMDS O60547 GMDS Homo sapiens O60547 32296183
Intra
GMDS O60547 GMDS Homo sapiens O60547 31515488
Intra
GMDS O60547 GMDS Homo sapiens O60547 32296183
Intra
GMDS O60547 TAE1 Saccharomyces cerevisiae P38340 27107014
Intra
GMDS O60547 TNKS Homo sapiens O95271 33961781
Intra
GMDS O60547 GMDS Homo sapiens O60547 25416956
Intra
GMDS O60547 TNKS Homo sapiens O95271 28514442
Intra
GMDS O60547 GMDS Homo sapiens O60547 32296183
Intra
GMDS O60547 TAE1 Saccharomyces cerevisiae P38340 27107014
Intra
GMDS O60547 TNKS2 Homo sapiens Q9H2K2 28514442
Intra
GMDS O60547 GMDS Homo sapiens O60547 16189514
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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
Others GMDS NCBI