GMDS
GDP-mannose 4,6 dehydratase
Also known as: GMD, GMDS_HUMAN, SDR3E1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O60547
- Gene
- GMDS
- Ensembl
- ENSG00000112699
- Chromosome
- 6
- Canonical length
- 372 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted intracellular proteins
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
372 residues, UniProt reviewed canonical sequence.
>O60547|GMDS
1 MAHAPARCPS ARGSGDGEMG KPRNVALITG ITGQDGSYLA EFLLEKGYEV HGIVRRSSSF
61 NTGRIEHLYK NPQAHIEGNM KLHYGDLTDS TCLVKIINEV KPTEIYNLGA QSHVKISFDL
121 AEYTADVDGV GTLRLLDAVK TCGLINSVKF YQASTSELYG KVQEIPQKET TPFYPRSPYG
181 AAKLYAYWIV VNFREAYNLF AVNGILFNHE SPRRGANFVT RKISRSVAKI YLGQLECFSL
241 GNLDAKRDWG HAKDYVEAMW LMLQNDEPED FVIATGEVHS VREFVEKSFL HIGKTIVWEG
301 KNENEVGRCK ETGKVHVTVD LKYYRPTEVD FLQGDCTKAK QKLNWKPRVA FDELVREMVH
361 ADVELMRTNP NALocalizationUniProt · AlphaFold · HPA
Whether an antibody against GMDS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 100 nTPM
Expression across tissuesHPA
Tissue
- duodenum: 100 nTPM
- salivary gland: 99 nTPM
- stomach: 92 nTPM
- small intestine: 82 nTPM
- colon: 82 nTPM
- rectum: 77 nTPM
Single-cell type
- lacrimal acinar cells: 2,259 nCPM
- mucous neck cells: 1,793 nCPM
- salivary acinar cells: 1,694 nCPM
- goblet cells: 1,679 nCPM
- esophageal apical cells: 1,583 nCPM
- foveolar cells: 1,577 nCPM
Immune cell
- myeloid DC: 15 nTPM
- T-reg: 13 nTPM
- NK-cell: 13 nTPM
- classical monocyte: 13 nTPM
- naive CD8 T-cell: 11 nTPM
- memory B-cell: 11 nTPM
Brain region
- choroid plexus: 18 nTPM
- amygdala: 16 nTPM
- cerebral cortex: 13 nTPM
- basal ganglia: 13 nTPM
- hippocampal formation: 13 nTPM
- hypothalamus: 13 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.27
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 1.82
- DepMap mean gene effect
- 0.16
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- 'de novo' GDP-L-fucose biosynthetic process
- GDP-L-fucose biosynthetic process
- GDP-mannose metabolic process
- Notch signaling pathway
Molecular functions
- identical protein binding
- NADP+ binding
- GDP-mannose 4,6-dehydratase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- NAD(P)-binding domain
- NAD(P)-binding domain superfamily
- GDP-mannose 4,6 dehydratase
- GDP-mannose 4,6-dehydratase
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GMDS as an antibody target. Whether an autoantibody or antibody against GMDS could matter depends on whether native GMDS is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GMDS is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GMDS as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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