Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2582
Gene name	UDP-galactose-4-epimerase
Gene symbol	GALE
Synonyms (NCBI Gene)	SDR1E1THC13
Chromosome	1
Chromosome location	1p36.11
Summary	This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of

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SNP ID	Visualize variation	Clinical significance	Consequence
rs3180383	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs28940882	C>T	Pathogenic	Coding sequence variant, missense variant
rs28940883	T>C	Pathogenic	Coding sequence variant, missense variant
rs28940885	C>T	Pathogenic, other, likely-benign	Coding sequence variant, missense variant
rs121908045	A>G	Pathogenic	Missense variant, coding sequence variant
rs121908046	T>C	Pathogenic	Missense variant, coding sequence variant
rs121908047	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs137853859	G>A,T	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs137853860	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs137853861	C>T	Pathogenic	Missense variant, coding sequence variant
rs727503943	G>A,T	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs779828095	C>A	Pathogenic	Splice acceptor variant
rs794727702	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1243531358	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1570630665	C>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (48)

miRTarBase ID	miRNA	Experiments
MIRT1010543	hsa-miR-3978	CLIP-seq
MIRT2232949	hsa-let-7a	CLIP-seq
MIRT2232950	hsa-let-7b	CLIP-seq
MIRT2232951	hsa-let-7c	CLIP-seq
MIRT2232952	hsa-let-7d	CLIP-seq
MIRT2232953	hsa-let-7e	CLIP-seq
MIRT2232954	hsa-let-7f	CLIP-seq
MIRT2232955	hsa-let-7g	CLIP-seq
MIRT2232956	hsa-let-7i	CLIP-seq
MIRT2232957	hsa-miR-1207-3p	CLIP-seq
MIRT2232958	hsa-miR-1304	CLIP-seq
MIRT2232959	hsa-miR-202	CLIP-seq
MIRT2232960	hsa-miR-3170	CLIP-seq
MIRT2232961	hsa-miR-4458	CLIP-seq
MIRT2232962	hsa-miR-4500	CLIP-seq
MIRT2232963	hsa-miR-4731-5p	CLIP-seq
MIRT2232964	hsa-miR-98	CLIP-seq
MIRT2536636	hsa-miR-10a	CLIP-seq
MIRT2536637	hsa-miR-10b	CLIP-seq
MIRT2536638	hsa-miR-1233	CLIP-seq
MIRT2536639	hsa-miR-1234	CLIP-seq
MIRT2536640	hsa-miR-1254	CLIP-seq
MIRT2536641	hsa-miR-1275	CLIP-seq
MIRT2536642	hsa-miR-129-3p	CLIP-seq
MIRT2536643	hsa-miR-1303	CLIP-seq
MIRT2536644	hsa-miR-3116	CLIP-seq
MIRT2536645	hsa-miR-3190	CLIP-seq
MIRT2536646	hsa-miR-432	CLIP-seq
MIRT2536647	hsa-miR-4417	CLIP-seq
MIRT2536648	hsa-miR-4456	CLIP-seq
MIRT2536649	hsa-miR-4502	CLIP-seq
MIRT2536650	hsa-miR-4535	CLIP-seq
MIRT2536651	hsa-miR-4639-3p	CLIP-seq
MIRT2536652	hsa-miR-4665-5p	CLIP-seq
MIRT2536653	hsa-miR-4680-5p	CLIP-seq
MIRT2536654	hsa-miR-4697-3p	CLIP-seq
MIRT2536655	hsa-miR-4725-5p	CLIP-seq
MIRT2536656	hsa-miR-4757-5p	CLIP-seq
MIRT2536657	hsa-miR-4776-5p	CLIP-seq
MIRT2536658	hsa-miR-504	CLIP-seq
MIRT2536659	hsa-miR-541	CLIP-seq
MIRT2536660	hsa-miR-615-5p	CLIP-seq
MIRT2536661	hsa-miR-635	CLIP-seq
MIRT2536662	hsa-miR-654-5p	CLIP-seq
MIRT2536663	hsa-miR-661	CLIP-seq
MIRT2536664	hsa-miR-7	CLIP-seq
MIRT2536665	hsa-miR-711	CLIP-seq
MIRT2536666	hsa-miR-769-5p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003974	Function	UDP-N-acetylglucosamine 4-epimerase activity	IEA
GO:0003978	Function	UDP-glucose 4-epimerase activity	IBA
GO:0003978	Function	UDP-glucose 4-epimerase activity	IDA	16302980
GO:0003978	Function	UDP-glucose 4-epimerase activity	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006012	Process	Galactose metabolic process	IEA
GO:0006012	Process	Galactose metabolic process	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0019388	Process	Galactose catabolic process	IDA	16302980
GO:0033499	Process	Galactose catabolic process via UDP-galactose, Leloir pathway	IBA
GO:0033499	Process	Galactose catabolic process via UDP-galactose, Leloir pathway	IEA
GO:0042802	Function	Identical protein binding	IPI	16189514, 25416956, 25502805, 31515488, 32296183
GO:0042803	Function	Protein homodimerization activity	IPI	16302980

MIM	HGNC	e!Ensembl
606953	4116	ENSG00000117308

Q14376

Protein name

UDP-glucose 4-epimerase (EC 5.1.3.2) (Galactowaldenase) (UDP-N-acetylgalactosamine 4-epimerase) (UDP-GalNAc 4-epimerase) (UDP-N-acetylglucosamine 4-epimerase) (UDP-GlcNAc 4-epimerase) (EC 5.1.3.7) (UDP-galactose 4-epimerase)

Protein function

Catalyzes two distinct but analogous reactions: the reversible epimerization of UDP-glucose to UDP-galactose and the reversible epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The reaction with UDP-Gal plays a critical rol

PDB

1EK5 , 1EK6 , 1HZJ , 1I3K , 1I3L , 1I3M , 1I3N

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16363	GDP_Man_Dehyd	6 → 333	GDP-mannose 4,6 dehydratase	Domain

Sequence

MAEKVLVTGGAGYIGSHTVLELLEAGYLPVVIDNFHNAFRGGGSLPESLRRVQELTGRSV
EFEEMDILDQGALQRLFKKYSFMAVIHFAGLKAVGESVQKPLDYYRVNLTGTIQLLEIMK
AHGVKNLVFSSSATVYGNPQYLPLDEAHPTGGCTNPYGKSKFFIEEMIRDLCQADKTWNA
VLLRYFNPTGAHASGCIGEDPQGIPNNLMPYVSQVAIGRREALNVFGNDYDTEDGTGVRD
YIHVVDLAKGHIAALRKLKEQCGCRIYNLGTGTGYSVLQMVQAMEKASGKKIPYKVVARR
EGDVAACYANPSLAQEELGWTAALGLDRMCEDLWRWQKQNPSGFGTQA

Sequence length

348

Interactions

View interactions

	KEGG		Reactome
	Galactose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways Biosynthesis of nucleotide sugars		Defective GALE can cause Epimerase-deficiency galactosemia (EDG) Galactose catabolism

396

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Galactosemia III, severe	Likely pathogenic; Pathogenic	rs121908047	RCV000003867
GALE-related disorder	Likely pathogenic	rs368637540	RCV003420622
See cases	Likely pathogenic; Pathogenic	rs137853859	RCV002251917
Thrombocytopenia 13, syndromic	Likely pathogenic; Pathogenic	rs765353795, rs1388106856, rs121908045, rs121908047, rs779828095, rs1557479812, rs773462569, rs780861587, rs747715399, rs1268440347, rs2521319607, rs137853859, rs137853860, rs137853861	RCV003991510 RCV005014512 RCV005016234 RCV005003325 RCV005003606 RCV005013095 RCV005014877 RCV005014881 RCV005014882 RCV005015062 RCV003991518 RCV005003400 RCV005016289 RCV005016290
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1456836841	RCV005931513
UDPglucose-4-epimerase deficiency	Likely pathogenic; Pathogenic	rs765353795, rs1388106856, rs1261697960, rs121908045, rs28940882, rs3180383, rs121908047, rs1638960014, rs2521294004, rs2521274472, rs2521288079, rs2521292161, rs779828095, rs368637540, rs1638984968 View all (23 more)	RCV001331200 RCV001377245 RCV001779437 RCV000003860 RCV000003862 RCV000003865 RCV000020292 RCV002839101 RCV002852221 RCV002957336 RCV003051634 RCV003145776 RCV001782773 RCV003230908 RCV003502779 RCV003502839 RCV003502425 RCV003503030 RCV003609429 RCV003609628 RCV003610319 RCV003608728 RCV003608815 RCV003608908 RCV003610536 RCV003610511 RCV003610624 RCV003610625 RCV003610599 RCV003850225 RCV003854916 RCV003860262 RCV003877688 RCV003865087 RCV000020293 RCV000020294 RCV000020295 RCV000822791

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial prostate cancer	Uncertain significance	rs727503942	RCV005888426
Glioma susceptibility 1	Likely benign	rs200029591	RCV005934966
Malignant tumor of urinary bladder	Likely benign	rs774474579	RCV005907672
Ovarian serous cystadenocarcinoma	Uncertain significance	rs542192037	RCV005891690

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Attention Deficit Disorder with Hyperactivity	Associate	33115496
Blood Platelet Disorders	Associate	36846897
Congenital Disorders of Glycosylation	Associate	30247636
Galactosemias	Inhibit	11279193, 16385452, 9973283
Galactosemias	Associate	11279193, 16302980, 19250319, 21703329, 22613355, 23732289, 29261178, 36846897, 9326324, 9973283
Glioblastoma	Associate	30572911, 33553434
Hemolysis	Inhibit	16385452
Hemorrhage	Associate	36846897
Myelodysplastic Syndromes	Associate	36846897
Neoplasms	Associate	31827638
Obesity	Associate	30177354
Pancytopenia	Associate	36846897
Peripheral Nervous System Diseases	Associate	9973283
Stomach Neoplasms	Associate	31827638
Thrombasthenia Thrombocytopenia Hereditary	Associate	30247636
Thrombocytopenia	Associate	36846897
Thyroid Cancer Papillary	Associate	17914110, 37158852

GALE (UDP-galactose-4-epimerase)