GALE (UDP-galactose-4-epimerase)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 2582
• Gene name: UDP-galactose-4-epimerase
• Gene symbol: GALE
• Synonyms (NCBI Gene): SDR1E1, THC13
• 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

SNPs 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

miRNA Show/Hide all (48)

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO) 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

Other IDs

• MIM: 606953
• HGNC: 4116
• e!Ensembl: ENSG00000117308

Protein

• UniProt ID: 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

Pathways

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

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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 RCV005013095 RCV005014877 RCV005014881 RCV005014882 RCV005015062 RCV003991518 RCV005003400 RCV005016289 RCV005016290	★★★★★ 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, rs1638981096, rs2521288550, rs1456836841, rs758564937, rs2521288727, rs1639038679, rs1557479812, rs2521320879, rs2521310914, rs773462569, rs2521326203, rs780861587, rs747715399, rs2521285775, rs1638974195, rs1351636899, rs2521326158, rs1268440347, rs758716088, rs137853859, rs137853860, rs137853861, rs1570630665	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (11)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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
galactose epimerase deficiency	—	ClinGen	27604308, ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALACTOSEMIA III	—	HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALACTOSEMIAS	—	CTD, Disgenet CTD, Disgenet	25526675	★★☆☆☆ 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

Associations from Text Mining Show/Hide Text Mining Associations (40)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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		★☆☆☆☆ 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	Pubtator	30177354	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30177354		★☆☆☆☆ 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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

GALK1 1 shared diseaseGalactosemia 4 shared pathwaysGalactose metabolism, Amino sugar and nucleotide sugar metabolism, Biosynthesis of nucleotide sugars, Galactose catabolism 3 shared evidence sourcesDisgenet (Galactosemia), HPO (Galactosemia), CTD (Galactosemia) Related via 4 shared pathways including Galactose metabolism, Amino sugar and nucleotide sugar metabolism — evidence mostly Disgenet. GALT 1 shared diseaseGalactosemia 4 shared pathwaysGalactose metabolism, Amino sugar and nucleotide sugar metabolism, Biosynthesis of nucleotide sugars, Galactose catabolism 3 shared evidence sourcesDisgenet (Galactosemia), HPO (Galactosemia), CTD (Galactosemia) Related via 4 shared pathways including Galactose metabolism, Amino sugar and nucleotide sugar metabolism — evidence mostly Disgenet. GNE 1 shared diseaseThrombocytopenia 2 shared pathwaysAmino sugar and nucleotide sugar metabolism, Biosynthesis of nucleotide sugars 3 shared evidence sourcesDisgenet (Thrombocytopenia), ClinVar (Thrombocytopenia), HPO (Thrombocytopenia) Related via 2 shared pathways including Amino sugar and nucleotide sugar metabolism, Biosynthesis of nucleotide sugars — evidence mostly Disgenet. GALK2 2 shared pathwaysAmino sugar and nucleotide sugar metabolism, Biosynthesis of nucleotide sugars Related via 2 shared pathways including Amino sugar and nucleotide sugar metabolism, Biosynthesis of nucleotide sugars. UXS1 2 shared pathwaysAmino sugar and nucleotide sugar metabolism, Biosynthesis of nucleotide sugars Related via 2 shared pathways including Amino sugar and nucleotide sugar metabolism, Biosynthesis of nucleotide sugars.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
GALK1	1	["Galactosemia"]	4	["Galactose metabolism","Amino sugar and nucleotide sugar metabolism","Biosynthesis of nucleotide sugars","Galactose catabolism"]	3	["Disgenet (Galactosemia)","HPO (Galactosemia)","CTD (Galactosemia)"]
GALT	1	["Galactosemia"]	4	["Galactose metabolism","Amino sugar and nucleotide sugar metabolism","Biosynthesis of nucleotide sugars","Galactose catabolism"]	3	["Disgenet (Galactosemia)","HPO (Galactosemia)","CTD (Galactosemia)"]
GNE	1	["Thrombocytopenia"]	2	["Amino sugar and nucleotide sugar metabolism","Biosynthesis of nucleotide sugars"]	3	["Disgenet (Thrombocytopenia)","ClinVar (Thrombocytopenia)","HPO (Thrombocytopenia)"]
GALK2	0	[]	2	["Amino sugar and nucleotide sugar metabolism","Biosynthesis of nucleotide sugars"]	0	[]
UXS1	0	[]	2	["Amino sugar and nucleotide sugar metabolism","Biosynthesis of nucleotide sugars"]	0	[]

Diseases Linked via Similar Genes

Asthma Linked via 2 of 5 related genesGALK1, GALT Cataract Linked via 1 of 5 related genesGALK1 Galactokinase deficiency Linked via 1 of 5 related genesGALK1 Junctional epidermolysis bullosa Linked via 1 of 5 related genesGALK1 Hypothyroidism Linked via 1 of 5 related genesGALK1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Asthma	2	["GALK1","GALT"]
Cataract	1	["GALK1"]
Galactokinase deficiency	1	["GALK1"]
Junctional epidermolysis bullosa	1	["GALK1"]
Hypothyroidism	1	["GALK1"]