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UGDH UDP-glucose 6-dehydrogenase [ Homo sapiens (human) ]

Gene ID: 7358, updated on 3-Nov-2024

Summary

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Official Symbol
UGDHprovided by HGNC
Official Full Name
UDP-glucose 6-dehydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:12525
See related
Ensembl:ENSG00000109814 MIM:603370; AllianceGenome:HGNC:12525
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GDH; UGD; DEE84; EIEE84; UDPGDH; UDP-GlcDH
Summary
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]
Expression
Broad expression in colon (RPKM 31.0), liver (RPKM 26.9) and 23 other tissues See more
Orthologs
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Genomic context

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See UGDH in Genome Data Viewer
Location:
4p14
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (39498755..39527439, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (39468409..39497229, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (39500375..39529059, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21459 Neighboring gene lipoic acid synthetase Neighboring gene WD repeat domain 5C, pseudogene Neighboring gene HNF1 and NFE2L2 motif-containing MPRA enhancers 6 and 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21460 Neighboring gene UGDH antisense RNA 1 Neighboring gene small integral membrane protein 14 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21463 Neighboring gene RNA, U7 small nuclear 11 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Hysteresis and negative cooperativity in human UDP-glucose dehydrogenase. Kadirvelraj R, et al. Biochemistry, 2013 Feb 26. PMID 23363239
  2. Hysteresis in human UDP-glucose dehydrogenase is due to a restrained hexameric structure that favors feedback inhibition. Kadirvelraj R, et al. Biochemistry, 2014 Dec 30. PMID 25478983
  3. Alteration of the quaternary structure of human UDP-glucose dehydrogenase by a double mutation. Huh JW, et al. J Biochem Mol Biol, 2007 Sep 30. PMID 17927902
  4. UDP-glucose 6-dehydrogenase lessens sorafenib sensitivity via modulating unfolded protein response. Guo B, et al. Biochem Biophys Res Commun, 2022 Jul 12. PMID 35617808
  5. UDP-glucose dehydrogenase modulates proteoglycan synthesis in articular chondrocytes: its possible involvement and regulation in osteoarthritis. Wen Y, et al. Arthritis Res Ther, 2014 Dec 3. PMID 25465897, Free PMC Article

See all (120) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.
    Title: Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.
  2. UGDH promotes tumor-initiating cells and a fibroinflammatory tumor microenvironment in ovarian cancer.
    Title: UGDH promotes tumor-initiating cells and a fibroinflammatory tumor microenvironment in ovarian cancer.
  3. UDP-glucose 6-dehydrogenase lessens sorafenib sensitivity via modulating unfolded protein response.
    Title: UDP-glucose 6-dehydrogenase lessens sorafenib sensitivity via modulating unfolded protein response.
  4. Integration of Sugar Metabolism and Proteoglycan Synthesis by UDP-glucose Dehydrogenase.
    Title: Integration of Sugar Metabolism and Proteoglycan Synthesis by UDP-glucose Dehydrogenase.
  5. Targeting UDP-glucose dehydrogenase inhibits ovarian cancer growth and metastasis.
    Title: Targeting UDP-glucose dehydrogenase inhibits ovarian cancer growth and metastasis.
  6. UDP-glucose 6-dehydrogenase knockout impairs migration and decreases in vivo metastatic ability of breast cancer cells.
    Title: UDP-glucose 6-dehydrogenase knockout impairs migration and decreases in vivo metastatic ability of breast cancer cells.
  7. UDP-glucose 6-dehydrogenase regulates hyaluronic acid production and promotes breast cancer progression.
    Title: UDP-glucose 6-dehydrogenase regulates hyaluronic acid production and promotes breast cancer progression.
  8. This study defines UGDH as a key player for the production of extracellular matrix components that are essential for human brain development.
    Title: Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
  9. The crystal structures of UGDH(A104L) show that the allosteric switch still adopts the E and E* states, albeit with a more rigid protein core. However, the progress curves of UGDH(A104L) do not show hysteresis, which suggests that the E* and E states are now in rapid equilibrium.
    Title: Hysteresis and Allostery in Human UDP-Glucose Dehydrogenase Require a Flexible Protein Core.
  10. These data indicate that UGDH expression and localization are an early sero-diagnostic marker in addition to a poor prognostic indicator in lung AC patients.
    Title: Clinicopathological and prognostic significance of nuclear UGDH localization in lung adenocarcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (39)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Developmental and epileptic encephalopathy, 84
MedGen: C5394081 OMIM: 618792 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NAD binding IEA
Inferred from Electronic Annotation
more info
  
enables UDP-glucose 6-dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in UDP-glucuronate biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in UDP-glucuronate biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in chondroitin sulfate biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in gastrulation with mouth forming second ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in glycosaminoglycan biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in heparan sulfate proteoglycan biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in neuron development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein hexamerization IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
UDP-glucose 6-dehydrogenase
Names
UDP-Glc dehydrogenase
UDP-glucose dehydrogenase
uridine diphospho-glucose dehydrogenase
NP_001171629.1
NP_001171630.1
NP_003350.1
XP_005262724.1
XP_054206766.1

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001184700.2 → NP_001171629.1  UDP-glucose 6-dehydrogenase isoform 2

    See identical proteins and their annotated locations for NP_001171629.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AK097930, AL699883, AL708740, AU131705, BC022781, BG194936
    Consensus CDS
    CCDS54758.1
    UniProtKB/Swiss-Prot
    O60701
    Related
    ENSP00000422909.1, ENST00000501493.6
    Conserved Domains (1) summary
    cl27617
    Location:4 → 397
    UDPG_MGDP_dh; UDP-glucose/GDP-mannose dehydrogenase family, central domain

  2. NM_001184701.2 → NP_001171630.1  UDP-glucose 6-dehydrogenase isoform 3

    See identical proteins and their annotated locations for NP_001171630.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 5' coding region and uses a downstream start codon, compared to variant 1. Isoform 3 has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC021148, AK297737, AL708740, BC022781
    Consensus CDS
    CCDS54757.1
    UniProtKB/Swiss-Prot
    O60701
    Related
    ENSP00000426560.1, ENST00000507089.5
    Conserved Domains (1) summary
    cl27617
    Location:1 → 367
    UDPG_MGDP_dh; UDP-glucose/GDP-mannose dehydrogenase family, central domain

  3. NM_003359.4 → NP_003350.1  UDP-glucose 6-dehydrogenase isoform 1

    See identical proteins and their annotated locations for NP_003350.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC021148, AF061016, AJ007702
    Consensus CDS
    CCDS3455.1
    UniProtKB/Swiss-Prot
    B3KUU2, B4DN25, O60589, O60701
    Related
    ENSP00000319501.6, ENST00000316423.11
    Conserved Domains (1) summary
    PLN02353
    Location:4 → 464
    PLN02353; probable UDP-glucose 6-dehydrogenase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    39498755..39527439 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262667.4 → XP_005262724.1  UDP-glucose 6-dehydrogenase isoform X1

    Conserved Domains (4) summary
    PLN02353
    Location:17 → 477
    PLN02353; probable UDP-glucose 6-dehydrogenase
    pfam00984
    Location:227 → 322
    UDPG_MGDP_dh; UDP-glucose/GDP-mannose dehydrogenase family, central domain
    pfam03720
    Location:345 → 459
    UDPG_MGDP_dh_C; UDP-glucose/GDP-mannose dehydrogenase family, UDP binding domain
    pfam03721
    Location:19 → 204
    UDPG_MGDP_dh_N; UDP-glucose/GDP-mannose dehydrogenase family, NAD binding domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    39468409..39497229 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350791.1 → XP_054206766.1  UDP-glucose 6-dehydrogenase isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60701.1 GenPept UniProtKB/Swiss-Prot:O60701

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