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

Show/Hide all (15)

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

Show/Hide all (14)

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Galactosemia III, severe	Likely pathogenic; Pathogenic	rs121908047	RCV000003867	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GALE-related disorder	Likely pathogenic	rs368637540	RCV003420622	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1456836841	RCV005931513	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (33 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ERYTHROCYTE GALACTOSE EPIMERASE DEFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROCYTE URIDINE DIPHOSPHATE GALACTOSE-4-EPIMERASE DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALACTOSEMIA III	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALACTOSEMIAS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UDPGLUCOSE 4-EPIMERASE DEFICIENCY DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (40)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	33115496	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	36846897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Classical galactosemia	Galactosemia	BEFREE	11279193, 15639193, 15701638, 16301867, 16302980, 19250319, 22613355, 23644136, 25150110, 28672748, 30451973, 30910422, 8593531, 9538513, 9540406, 9973283 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Classical galactosemia	Galactosemia	CTD_human_DG	25526675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	30247636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of galactokinase	Deficiency Of Galactokinase	CTD_human_DG	25526675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythrocyte galactose epimerase deficiency	Erythrocyte Galactose Epimerase Deficiency	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial benign neonatal epilepsy	Benign Epilepsy	BEFREE	18163970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Galactosemias	Galactosemia	Pubtator	11279193, 16385452, 9973283	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Galactosemias	Galactosemia	Pubtator	11279193, 16302980, 19250319, 21703329, 22613355, 23732289, 29261178, 36846897, 9326324, 9973283	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Galactosemias	Galactosemia	BEFREE	16301867, 16302980, 18188677, 19250319, 22613355, 23644136, 25150110, 28672748, 30451973, 30910422, 9540406, 9700591		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Galactosemias	Galactosemia	LHGDN	16302980		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Galactosemias	Galactosemia	CTD_human_DG	25526675		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized galactose epimerase deficiency	Galactose Epimerase Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30572911, 33553434	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	14602483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	16385452	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	36846897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	8593531, 9540406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31827638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	23732289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	36846897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30177354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	30177354	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	Pubtator	36846897	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	9973283	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31827638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31827638	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	36846897	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	17914110, 37158852	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
UDPglucose 4-epimerase deficiency disease	UDPglucose 4-Epimerase Deficiency Disease	CLINVAR_DG	10086948, 11117433, 11279193, 16301867, 18188677, 19250319, 23644136, 9973283		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UDPglucose 4-epimerase deficiency disease	UDPglucose 4-Epimerase Deficiency Disease	UNIPROT_DG	11279193, 11903335, 15639193, 16301867, 16302980, 9326324, 9538513, 9973283		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UDPglucose 4-epimerase deficiency disease	UDPglucose 4-Epimerase Deficiency Disease	BEFREE	16385452, 8593531		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UDPglucose 4-epimerase deficiency disease	UDPglucose 4-Epimerase Deficiency Disease	CTD_human_DG	25526675		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UDPglucose 4-epimerase deficiency disease	UDPglucose 4-Epimerase Deficiency Disease	GENOMICS_ENGLAND_DG	9973283		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

GALE (UDP-galactose-4-epimerase)