Gene: UGDH

Basic information

Tag Content
Uniprot ID O60701; B3KUU2; B4DN25; O60589;
Entrez ID 7358
Genbank protein ID BAG60087.1; CAB75891.1; AAC05135.1; AAC36095.1; CAA07609.1; EAW92937.1; BAG53554.1; AAH22781.1;
Genbank nucleotide ID NM_001184700.1; NM_003359.3; NM_001184701.1;
Ensembl protein ID ENSP00000319501; ENSP00000426560; ENSP00000422909; ENSP00000421757;
Ensembl nucleotide ID ENSG00000109814
Gene name UDP-glucose 6-dehydrogenase
Gene symbol UGDH
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Catalyzes the formation of UDP-alpha-D-glucuronate, a constituent of complex glycosaminoglycans (PubMed:21961565, PubMed:21502315, PubMed:23106432, PubMed:22123821, PubMed:25478983, PubMed:27966912, PubMed:30420606, PubMed:30457329). Required for the biosynthesis of chondroitin sulfate and heparan sulfate. Required for embryonic development via its role in the biosynthesis of glycosaminoglycans (By similarity).
Sequence
MFEIKKICCI GAGYVGGPTC SVIAHMCPEI RVTVVDVNES RINAWNSPTL PIYEPGLKEV 60
VESCRGKNLF FSTNIDDAIK EADLVFISVN TPTKTYGMGK GRAADLKYIE ACARRIVQNS 120
NGYKIVTEKS TVPVRAAESI RRIFDANTKP NLNLQVLSNP EFLAEGTAIK DLKNPDRVLI 180
GGDETPEGQR AVQALCAVYE HWVPREKILT TNTWSSELSK LAANAFLAQR ISSINSISAL 240
CEATGADVEE VATAIGMDQR IGNKFLKASV GFGGSCFQKD VLNLVYLCEA LNLPEVARYW 300
QQVIDMNDYQ RRRFASRIID SLFNTVTDKK IAILGFAFKK DTGDTRESSS IYISKYLMDE 360
GAHLHIYDPK VPREQIVVDL SHPGVSEDDQ VSRLVTISKD PYEACDGAHA VVICTEWDMF 420
KELDYERIHK KMLKPAFIFD GRRVLDGLHN ELQTIGFQIE TIGKKVSSKR IPYAPSGEIP 480
KFSLQDPPNK KPKV 494

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologUGDH281564P12378Bos taurusPredictionMore>>
1:1 orthologUGDH479107E2R311Canis lupus familiarisPredictionMore>>
1:1 orthologUGDH102171772A0A452G134Capra hircusPredictionMore>>
1:1 orthologUGDH7358O60701Homo sapiensPredictionMore>>
1:1 orthologUgdh22235O70475CPOMus musculusPublicationMore>>
1:1 orthologUGDH471171H2QPC9Pan troglodytesPredictionMore>>
1:1 orthologUGDH100627727I3LIM2Sus scrofaPredictionMore>>
1:1 orthologUgdhG3V6C4Rattus norvegicusPredictionMore>>
1:1 orthologugdh116991A8WGP7Danio rerioPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003979 UDP-glucose 6-dehydrogenase activityIDA
GO:0051287 NAD bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0001702 gastrulation with mouth forming secondISS
GO:0005975 carbohydrate metabolic processIEA
GO:0006024 glycosaminoglycan biosynthetic processIBA
GO:0006065 UDP-glucuronate biosynthetic processIEA
GO:0006065 UDP-glucuronate biosynthetic processIDA
GO:0006065 UDP-glucuronate biosynthetic processTAS
GO:0015012 heparan sulfate proteoglycan biosynthetic processISS
GO:0030206 chondroitin sulfate biosynthetic processISS
GO:0034214 protein hexamerizationIDA
GO:0055114 oxidation-reduction processIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIBA
GO:0005654 nucleoplasmIDA
GO:0005829 cytosolIBA
GO:0005829 cytosolTAS
GO:0070062 extracellular exosomeHDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1430728 MetabolismTAS
R-HSA-156580 Phase II - Conjugation of compoundsTAS
R-HSA-156588 GlucuronidationTAS
R-HSA-173599 Formation of the active cofactor, UDP-glucuronateTAS
R-HSA-211859 Biological oxidationsTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0007 Acetylation
KW-0021 Allosteric enzyme
KW-0025 Alternative splicing
KW-0119 Carbohydrate metabolism
KW-0520 NAD
KW-0560 Oxidoreductase
KW-0597 Phosphoprotein
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR008927 6-PGluconate_DH-like_C_sf
IPR036291 NAD(P)-bd_dom_sf
IPR017476 UDP-Glc/GDP-Man
IPR014027 UDP-Glc/GDP-Man_DH_C
IPR036220 UDP-Glc/GDP-Man_DH_C_sf
IPR014026 UDP-Glc/GDP-Man_DH_dimer
IPR001732 UDP-Glc/GDP-Man_DH_N
IPR028356 UDPglc_DH_euk

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF00984 UDPG_MGDP_dh
PF03720 UDPG_MGDP_dh_C
PF03721 UDPG_MGDP_dh_N

Protein-protein interaction

Protein-miRNA interaction