Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GMDS Gene

Aliases for GMDS Gene

  • GDP-Mannose 4,6-Dehydratase 2 3 5
  • GDP-D-Mannose Dehydratase 3 4
  • EC 4.2.1.47 4 63
  • GMD 3 4
  • Short Chain Dehydrogenase/Reductase Family 3E, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 3E 2
  • Member 1 2
  • SDR3E1 3

External Ids for GMDS Gene

Previous GeneCards Identifiers for GMDS Gene

  • GC06M001609
  • GC06M001570
  • GC06M001571
  • GC06M001572
  • GC06M001493

Summaries for GMDS Gene

Entrez Gene Summary for GMDS Gene

  • 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]

GeneCards Summary for GMDS Gene

GMDS (GDP-Mannose 4,6-Dehydratase) is a Protein Coding gene. Diseases associated with GMDS include congenital disorder of glycosylation, type iic and leukocyte adhesion deficiency. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include coenzyme binding and NADP+ binding.

UniProtKB/Swiss-Prot for GMDS Gene

  • Catalyzes the conversion of GDP-D-mannose to GDP-4-dehydro-6-deoxy-D-mannose.

Gene Wiki entry for GMDS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GMDS Gene

Genomics for GMDS Gene

Regulatory Elements for GMDS Gene

Promoters for GMDS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GMDS on UCSC Golden Path with GeneCards custom track

Genomic Location for GMDS Gene

Chromosome:
6
Start:
1,623,800 bp from pter
End:
2,245,692 bp from pter
Size:
621,893 bases
Orientation:
Minus strand

Genomic View for GMDS Gene

Genes around GMDS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GMDS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GMDS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GMDS Gene

Proteins for GMDS Gene

  • Protein details for GMDS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60547-GMDS_HUMAN
    Recommended name:
    GDP-mannose 4,6 dehydratase
    Protein Accession:
    O60547
    Secondary Accessions:
    • E9PI88
    • O75357
    • Q5T954
    • Q6FH09
    • Q9UGZ3
    • Q9UJK9

    Protein attributes for GMDS Gene

    Size:
    372 amino acids
    Molecular mass:
    41950 Da
    Cofactor:
    Name=NADP(+); Xref=ChEBI:CHEBI:58349;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC24501.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GMDS Gene

    Alternative splice isoforms for GMDS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GMDS Gene

Proteomics data for GMDS Gene at MOPED

Post-translational modifications for GMDS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GMDS Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for GMDS Gene

Gene Families for GMDS Gene

Suggested Antigen Peptide Sequences for GMDS Gene

Graphical View of Domain Structure for InterPro Entry

O60547

UniProtKB/Swiss-Prot:

GMDS_HUMAN :
  • Belongs to the NAD(P)-dependent epimerase/dehydratase family. GDP-mannose 4,6-dehydratase subfamily.
Family:
  • Belongs to the NAD(P)-dependent epimerase/dehydratase family. GDP-mannose 4,6-dehydratase subfamily.
genes like me logo Genes that share domains with GMDS: view

Function for GMDS Gene

Molecular function for GMDS Gene

GENATLAS Biochemistry:
GDP-mannose 4,6-dehydratase homolog,first enzyme in the pathway,converting GDP-mannose to GDP-fructose
UniProtKB/Swiss-Prot CatalyticActivity:
GDP-alpha-D-mannose = GDP-4-dehydro-alpha-D-rhamnose + H(2)O.
UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of GDP-D-mannose to GDP-4-dehydro-6-deoxy-D-mannose.

Enzyme Numbers (IUBMB) for GMDS Gene

Gene Ontology (GO) - Molecular Function for GMDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070401 NADP+ binding IDA 9525924
genes like me logo Genes that share ontologies with GMDS: view
genes like me logo Genes that share phenotypes with GMDS: view

Animal Models for GMDS Gene

MGI Knock Outs for GMDS:
  • Gmds tm1a(KOMP)Wtsi

Animal Model Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GMDS Gene

Localization for GMDS Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GMDS Gene COMPARTMENTS Subcellular localization image for GMDS gene
Compartment Confidence
cytosol 5
extracellular 5
cytoskeleton 2
mitochondrion 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GMDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IC 9525924
genes like me logo Genes that share ontologies with GMDS: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GMDS Gene

Pathways & Interactions for GMDS Gene

genes like me logo Genes that share pathways with GMDS: view

UniProtKB/Swiss-Prot O60547-GMDS_HUMAN

  • Pathway: Nucleotide-sugar biosynthesis; GDP-L-fucose biosynthesis via de novo pathway; GDP-L-fucose from GDP-alpha-D-mannose: step 1/2.

Gene Ontology (GO) - Biological Process for GMDS Gene

None

No data available for SIGNOR curated interactions for GMDS Gene

Drugs & Compounds for GMDS Gene

(19) Drugs for GMDS Gene - From: HMDB, ClinicalTrials, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
leucovorin Approved Pharma 952
Folic Acid Approved Nutra 2924
Guanosine diphosphate Experimental Pharma Target 0
Guanosine-5'-Diphosphate-Rhamnose Experimental Pharma Target 0
Hematinics Pharma 1121

(8) Additional Compounds for GMDS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
GDP-4-Dehydro-6-deoxy-D-mannose
  • GDP-4-Dehydro-6-deoxy-D-mannose
  • GDP-4-Dehydro-6-deoxy-D-talose
  • GDP-4-Dehydro-D-rhamnose
  • GDP-4-Keto-6-D-deoxymannose
  • GDP-4-Keto-6-deoxy-D-mannose
18186-48-6
Guanosine diphosphate mannose
  • GDP Mannose
  • GDP-D-Mannose
  • GDP-Glucose
  • GDP-Mannose
  • Guanosine Diphosphate Mannose
3123-67-9
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with GMDS: view

Transcripts for GMDS Gene

Unigene Clusters for GMDS Gene

GDP-mannose 4,6-dehydratase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GMDS Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1: - - - -
SP2: - - -
SP3: -
SP4:

Relevant External Links for GMDS Gene

GeneLoc Exon Structure for
GMDS
ECgene alternative splicing isoforms for
GMDS

Expression for GMDS Gene

mRNA expression in normal human tissues for GMDS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GMDS Gene

This gene is overexpressed in Colon - Transverse (x5.3).

Protein differential expression in normal tissues from HIPED for GMDS Gene

This gene is overexpressed in Skin (16.4) and Salivary gland (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GMDS Gene



SOURCE GeneReport for Unigene cluster for GMDS Gene Hs.144496

genes like me logo Genes that share expression patterns with GMDS: view

Protein tissue co-expression partners for GMDS Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GMDS Gene

Orthologs for GMDS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GMDS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GMDS 35
  • 86.11 (n)
  • 94.62 (a)
GMDS 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GMDS 35
  • 88.75 (n)
  • 95.54 (a)
GMDS 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gmds 35
  • 89.7 (n)
  • 97.04 (a)
Gmds 16
Gmds 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gmds 35
  • 89.34 (n)
  • 96.51 (a)
oppossum
(Monodelphis domestica)
Mammalia GMDS 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GMDS 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GMDS 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves GMDS 35
  • 82.27 (n)
  • 90.3 (a)
GMDS 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GMDS 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gmds 35
  • 78.68 (n)
  • 88.62 (a)
LOC394693 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
gmds 35
  • 74.21 (n)
  • 83.92 (a)
gmds 36
  • 81 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Gmd 37
  • 70 (a)
Gmd 35
  • 66.11 (n)
  • 70.56 (a)
Gmd 36
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006783 35
  • 64.62 (n)
  • 69.83 (a)
worm
(Caenorhabditis elegans)
Secernentea C53B4.7a 37
  • 62 (a)
C53B4.7b 37
  • 62 (a)
F56H6.5 37
  • 66 (a)
gmd-2 35
  • 63.15 (n)
  • 66.95 (a)
bre-1 36
  • 59 (a)
OneToMany
gmd-2 36
  • 62 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons MUR1 35
  • 58.51 (n)
  • 58.51 (a)
rice
(Oryza sativa)
Liliopsida Os06g0137700 35
  • 56.93 (n)
  • 57.79 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5147 36
  • 68 (a)
OneToOne
Species with no ortholog for GMDS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GMDS Gene

ENSEMBL:
Gene Tree for GMDS (if available)
TreeFam:
Gene Tree for GMDS (if available)

Paralogs for GMDS Gene

No data available for Paralogs for GMDS Gene

Variants for GMDS Gene

Sequence variations from dbSNP and Humsavar for GMDS Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1649 -- 1,645,339(-) GGCAC(A/G)GCACG intron-variant
rs1802 -- 2,073,145(+) CCGCT(C/T)TGTGC intron-variant
rs163068 -- 2,190,647(+) GCACA(C/T)GTTTT intron-variant
rs163069 -- 2,192,071(+) agcta(C/T)tctct intron-variant
rs163070 -- 2,192,643(+) tgcag(C/T)gcacc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GMDS Gene

Variant ID Type Subtype PubMed ID
nsv883376 CNV Gain 21882294
dgv992n67 CNV Gain 20364138
dgv6426n71 CNV Loss 21882294
nsv350018 CNV Loss 16902084
esv1420337 CNV Insertion 17803354
esv271905 CNV Insertion 20981092
esv273998 CNV Insertion 20981092
esv2522446 CNV Deletion 19546169
esv2309535 CNV Deletion 18987734
esv2731438 CNV Deletion 23290073
nsv349305 CNV Loss 16902084
esv6042 CNV Loss 19470904
esv2731440 CNV Deletion 23290073
esv5149 CNV Deletion 18987735
nsv462611 CNV Loss 19166990
esv2731441 CNV Deletion 23290073
esv2731442 CNV Deletion 23290073
esv1975015 CNV Deletion 18987734
esv994377 CNV Deletion 20482838
esv2731443 CNV Deletion 23290073
esv1079731 CNV Deletion 17803354
dgv367n21 CNV Loss 19592680
dgv6427n71 CNV Loss 21882294
esv2731444 CNV Deletion 23290073
esv2088179 CNV Deletion 18987734
esv5411 CNV Deletion 18987735
dgv1029e201 CNV Deletion 23290073
esv994574 CNV Deletion 20482838
nsv5175 CNV Insertion 18451855
nsv883385 CNV Gain 21882294
esv2731447 CNV Deletion 23290073
esv2731448 CNV Deletion 23290073
esv2731449 CNV Deletion 23290073
esv2731451 CNV Deletion 23290073
esv1790287 CNV Insertion 17803354
esv2731452 CNV Deletion 23290073
esv2731453 CNV Deletion 23290073
nsv883386 CNV Loss 21882294
esv2501581 CNV Insertion 19546169
esv1680278 CNV Insertion 17803354
esv1276389 CNV Insertion 17803354
nsv516745 CNV Loss 19592680
esv1726903 CNV Insertion 17803354
esv2672691 CNV Deletion 23128226
nsv527735 CNV Loss 19592680
nsv522608 CNV Gain 19592680
nsv883387 CNV Gain 21882294
nsv883388 CNV Gain 21882294
nsv883389 CNV Gain 21882294
nsv519587 CNV Loss 19592680
nsv830573 CNV Gain 17160897
dgv368n21 CNV Loss 19592680
nsv528906 CNV Gain 19592680
esv269652 CNV Insertion 20981092
esv2661700 CNV Deletion 23128226
esv25056 CNV Gain 19812545
esv2731454 CNV Deletion 23290073
esv2731455 CNV Deletion 23290073
esv2678398 CNV Deletion 23128226
esv25592 CNV Loss 19812545
esv2731456 CNV Deletion 23290073

Variation tolerance for GMDS Gene

Residual Variation Intolerance Score: 24.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 10.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GMDS Gene

HapMap Linkage Disequilibrium report
GMDS
Human Gene Mutation Database (HGMD)
GMDS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GMDS Gene

Disorders for GMDS Gene

MalaCards: The human disease database

(2) MalaCards diseases for GMDS Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iic
  • leukocyte adhesion deficiency, type ii
leukocyte adhesion deficiency
  • leukocyte adhesion deficiency, type iii
- elite association - COSMIC cancer census association via MalaCards
Search GMDS in MalaCards View complete list of genes associated with diseases

Relevant External Links for GMDS

Genetic Association Database (GAD)
GMDS
Human Genome Epidemiology (HuGE) Navigator
GMDS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GMDS
genes like me logo Genes that share disorders with GMDS: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GMDS Gene

Publications for GMDS Gene

  1. Molecular cloning of human GDP-mannose 4,6-dehydratase and reconstitution of GDP-fucose biosynthesis in vitro. (PMID: 9525924) Sullivan F.X. … Cumming D.A. (J. Biol. Chem. 1998) 2 3 4 67
  2. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  3. Composition of Drosophila melanogaster proteome involved in fucosylated glycan metabolism. (PMID: 11698403) Roos C. … Renkonen R. (J. Biol. Chem. 2002) 3 23
  4. Molecular cloning and expression of GDP-D-mannose-4,6-dehydratase, a key enzyme for fucose metabolism defective in Lec13 cells. (PMID: 9603974) Ohyama C. … Fukuda M. (J. Biol. Chem. 1998) 3 23
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for GMDS Gene

Sources for GMDS Gene

Back to Top

Content