UGDH
UDP-glucose 6-dehydrogenase
Also known as: UGDH_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O60701
- Gene
- UGDH
- Ensembl
- ENSG00000109814
- Chromosome
- 4
- Canonical length
- 494 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homohexamer
OverviewNCBI Gene
The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Canonical amino-acid sequenceUniProt
494 residues, UniProt reviewed canonical sequence.
>O60701|UGDH
1 MFEIKKICCI GAGYVGGPTC SVIAHMCPEI RVTVVDVNES RINAWNSPTL PIYEPGLKEV
61 VESCRGKNLF FSTNIDDAIK EADLVFISVN TPTKTYGMGK GRAADLKYIE ACARRIVQNS
121 NGYKIVTEKS TVPVRAAESI RRIFDANTKP NLNLQVLSNP EFLAEGTAIK DLKNPDRVLI
181 GGDETPEGQR AVQALCAVYE HWVPREKILT TNTWSSELSK LAANAFLAQR ISSINSISAL
241 CEATGADVEE VATAIGMDQR IGNKFLKASV GFGGSCFQKD VLNLVYLCEA LNLPEVARYW
301 QQVIDMNDYQ RRRFASRIID SLFNTVTDKK IAILGFAFKK DTGDTRESSS IYISKYLMDE
361 GAHLHIYDPK VPREQIVVDL SHPGVSEDDQ VSRLVTISKD PYEACDGAHA VVICTEWDMF
421 KELDYERIHK KMLKPAFIFD GRRVLDGLHN ELQTIGFQIE TIGKKVSSKR IPYAPSGEIP
481 KFSLQDPPNK KPKVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against UGDH 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)
- 0.25
- Highest tissue expression
- 129 nTPM
Expression across tissuesHPA
Tissue
- liver: 129 nTPM
- colon: 90 nTPM
- rectum: 69 nTPM
- urinary bladder: 51 nTPM
- adipose tissue: 45 nTPM
- stomach: 45 nTPM
Single-cell type
- colonocytes: 642 nCPM
- breast hormone-responsive cells: 439 nCPM
- pancreatic acinar cells: 404 nCPM
- enterocytes: 402 nCPM
- hepatocytes: 346 nCPM
- goblet cells: 301 nCPM
Immune cell
- NK-cell: 42 nTPM
- MAIT T-cell: 38 nTPM
- basophil: 30 nTPM
- memory CD8 T-cell: 25 nTPM
- gdT-cell: 23 nTPM
- plasmacytoid DC: 23 nTPM
Brain region
- choroid plexus: 44 nTPM
- cerebellum: 26 nTPM
- cerebral cortex: 25 nTPM
- white matter: 25 nTPM
- thalamus: 25 nTPM
- hypothalamus: 24 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about UGDH.
Disease | AllUniProt
Conditions UGDH is implicated in, by any mechanism.
- Developmental and epileptic encephalopathy 84 (DEE84) MIM:618792
Disease | GeneticClinVar
26 pathogenic / likely-pathogenic of 126 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Epileptic encephalopathy
- Developmental and epileptic encephalopathy, 84
- UGDH-related disorder
- West syndrome
- Inborn genetic diseases
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)
- 0.72
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.3
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chondroitin sulfate proteoglycan biosynthetic process
- gastrulation with mouth forming second
- glycosaminoglycan biosynthetic process
- heparan sulfate proteoglycan biosynthetic process
- neuron development
- protein hexamerization
- UDP-glucuronate biosynthetic process
Molecular functions
- identical protein binding
- NAD binding
- UDP-glucose 6-dehydrogenase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- 6-phosphogluconate dehydrogenase-like, C-terminal domain superfamily
- NAD(P)-binding domain superfamily
- UDP-glucose/GDP-mannose dehydrogenase, N-terminal
- UDP-glucose/GDP-mannose dehydrogenase, dimerisation
- UDP-glucose/GDP-mannose dehydrogenase, C-terminal
- UDP-glucose/GDP-mannose dehydrogenase
- UDP-glucose 6-dehydrogenase, eukaryotic type
- UDP-glucose/GDP-mannose dehydrogenase, C-terminal domain superfamily
- UDP-glucose/GDP-mannose dehydrogenase family, central domain
- UDP-glucose/GDP-mannose dehydrogenase family, UDP binding domain
- UDP-glucose/GDP-mannose dehydrogenase family, NAD binding domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads UGDH as an antibody target. Whether an autoantibody or antibody against UGDH could matter depends on whether native UGDH is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
UGDH 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 UGDH as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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