Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GALE Gene

protein-coding GIFtS: 65
GCID: GC01M024122

UDP-galactose-4-epimerase

(Previous names: galactose-4-epimerase, UDP- )

Explore 17 diseases affiliated with
GALE via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
UDP-Galactose-4-Epimerase¹		Short Chain Dehydrogenase/Reductase Family 1E, Member 1²
SDR1E1¹ ²		UDP Galactose-4'-Epimerase²
Galactose-4-Epimerase, UDP-¹ ²		UDP-Glucose 4-Epimerase²
UDP-Galactose 4-Epimerase² ³		Galactowaldenase³
EC 5.1.3.2³ ⁸		EC 5.1.3⁸
Galactowaldenase³

External Ids:	HGNC: 4116¹	Entrez Gene: 2582²	Ensembl: ENSG00000117308⁷	OMIM: 606953⁵	UniProtKB: Q14376³

Export aliases for GALE gene to outside databases

Previous GC identifers: GC01M023679 GC01M023194 GC01M023591 GC01M023867 GC01M023994 GC01M022374

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GALE:

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 the enzyme has the important metabolic consequence that mutant cells (or individuals) are

dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for

the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia,

also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and

mental retardation, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple

alternatively spliced transcripts encoding the same protein have been identified. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: GALE_HUMAN, Q14376

Function: 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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004610.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GALE gene promoter:
AML1a STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GALE promoter sequence

Search SABiosciences Chromatin IP Primers for GALE

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GALE

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36-p35 Ensembl cytogenetic band: 1p36.11 HGNC cytogenetic band: 1p36-p35

GALE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GALE gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M024122: view genomic region (about GC identifiers)

Start:	24,122,089 bp from pter	End:	24,127,294 bp from pter
Size:	5,206 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GALE_HUMAN, Q14376 (See protein sequence)

Recommended Name: UDP-glucose 4-epimerase

Size: 348 amino acids; 38282 Da

Cofactor: NAD

Subunit: Homodimer

6/7 PDB 3D structures from and Proteopedia for GALE (see all 7):

1EK5 (3D)

1EK6 (3D)

1HZJ (3D)

1I3K (3D)

1I3L (3D)

1I3M (3D)

Secondary accessions: Q86W41 Q9BVE3 Q9UJB4

Explore the universe of human proteins at neXtProt for GALE: NX_Q14376

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q14376

4/13 DME Specific Peptides for GALE (Q14376) (see all 13)

DGTGVRD

LLRYFNP

TVLELLE

KPLDYYR

GALE Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_000394.2 NP_001008217.1 NP_001121093.1

ENSEMBL proteins:

ENSP00000363621 ENSP00000397045 ENSP00000398585 ENSP00000414719 ENSP00000393359

ENSP00000398257

Reactome Protein details: Q14376
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Proteins (see all 3): GALE OriGene Protein Over-expression Lysate (see all 3): GALE OriGene Custom Protein Services for GALE
	GenScript Custom Purified and Recombinant Proteins Services for GALE
	Novus Biologicals GALE Proteins Novus Biologicals GALE Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for GALE
	Uscn Proteins for GALE

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--

GALE for ontologies About GeneDecksing

GALE Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	OriGene Antibodies: GALE OriGene Custom Antibody Services for GALE
	GenScript Custom Superior Antibodies Services for GALE
	Novus Biologicals GALE Antibodies
	Abcam antibodies for GALE
	Uscn Antibodies for GALE
	Search ThermoFisher Antibodies for GALE

Assay Products for GALE:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for GALE
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for GALE

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GALE for domains About GeneDecksing

5 InterPro domains/families:

IPR025308 Epimerase_C

IPR001509 Epimerase_deHydtase

IPR005886 GalE

IPR008089 Nuc_sugar_epim

IPR016040 NAD(P)-bd_dom

Graphical View of Domain Structure for InterPro Entry Q14376

ProtoNet protein and cluster: Q14376

2 Blocks protein families:

IPB001509 NAD-dependent epimerase/dehydratase

IPB008089 Nucleotide sugar epimerase signature

UniProtKB/Swiss-Prot: GALE_HUMAN, Q14376

Similarity: Belongs to the sugar epimerase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: GALE_HUMAN, Q14376

Function: 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

Catalytic activity: UDP-alpha-D-glucose = UDP-alpha-D-galactose

Biophysicochemical properties: Kinetic parameters: KM=69 uM for UDP-galactose (at 37 degrees Celsius and pH 8.8);

Vmax=1.22 mmol/min/mg enzyme with UDP-galactose as substrate;

Genatlas biochemistry entry for GALE:

UDP-galactose-4-epimerase,38kDa

Enzyme Numbers (IUBMB): EC 5.1.3.2¹ ² EC 5.1.3²

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GALE
		8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate GALE (see all 17):
		hsa-let-7d hsa-miR-202 hsa-miR-765 hsa-let-7c hsa-let-7g hsa-miR-661 hsa-miR-654-5p hsa-let-7a

		SwitchGear 3'UTR luciferase reporter plasmid: GALE 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GALE (see all 7) OriGene shRNA RFP: GALE OriGene siRNA: GALE
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GALE

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for GALE

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GALE (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GALE (see all 4) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): GALE (NM_001008216)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for GALE
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALE

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for GALE
		Search LifeMap BioReagents cell lines for GALE

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALE

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003978	UDP-glucose 4-epimerase activity	IDA	16302980
GO:0042803	protein homodimerization activity	IPI	16302980
GO:0050662	coenzyme binding	IEA	--

GALE for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Galactose metabolism

	Galactose metabolism	1.00			Galactose metabolism	0.47
	Galactose metabolism	0.95

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

galactose degradation I (Leloir pathway)

galactose degradation I (Leloir pathway)

1.00

Galactose catabolism

0.50

Amino sugar and nucleotide sugar metabolism

Amino sugar and nucleotide sugar metabolism

1.00

UDP-N-acetyl-D-galactosamine biosynthesis I

UDP-N-acetyl-D-galactosamine biosynthesis I

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for GALE

Galactose metabolism

1 GeneGo (Thomson Reuters) Pathway for GALE

Galactose metabolism

4 BioSystems Pathways for GALE

	UDP-N-acetyl-D-galactosamine biosynthesis II
	UDP-N-acetyl-D-galactosamine biosynthesis I
	colanic acid building blocks biosynthesis
	galactose degradation I (Leloir pathway)

3 Reactome Pathways for GALE

	Metabolism of carbohydrates
	Galactose catabolism
	Metabolism

3 Kegg Pathways (Kegg details for GALE):

	Galactose metabolism
	Amino sugar and nucleotide sugar metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: GALE_HUMAN, Q14376

Pathway: Carbohydrate metabolism; galactose metabolism

GALE for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for GALE

1 Interacting protein for GALE (Q14376³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TDO2	P48775³	I2D: score=1

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0006012	galactose metabolic process	--	--
GO:0019388	galactose catabolic process	TAS	--
GO:0044237	cellular metabolic process	IEA	--
GO:0044281	small molecule metabolic process	TAS	--

GALE for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GALE for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for GALE

6 HMDB Compounds for GALE About this table

Compound	Synonyms	CAS #	PubMed Ids
NAD	3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)	53-84-9	--
NADH	1,4-Dihydronicotinamide adenine dinucleotide (see all 17)	58-68-4	--
Uridine diphosphate glucose	(UPD)-glucose (see all 24)	133-89-1	--
Uridine diphosphategalactose	GDU (see all 39)	2956-16-3	--
dTDP-D-galactose	dTDP-D-galactose (see all 3)	5817-97-0	--
dTDP-D-glucose	Mono-a-D-glucopyranosyl ester (see all 13)	2196-62-5	--

7 DrugBank Compounds for GALE About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Glucose-Uridine-C1,5'-Diphosphate	--	--	target	--	17139284 17016423 10592235
Nicotinamide-Adenine-Dinucleotide	--	53-84-9	target	--	17139284 17016423 10592235
Tetramethylammonium Ion	--	--	target	--	17139284 17016423
Uridine-5'-Monophosphate Glucopyranosyl-Monophosphateester	--	--	target	--	17139284 17016423
Uridine-Diphosphate-N-Acetylgalactosamine	--	--	target	--	17139284 17016423
Uridine-Diphosphate-N-Acetylglucosamine	--	--	target	--	17139284 17016423
Uridine Diphosphate Galactose	GALACTOSE-URIDINE-5'-DIPHOSPHATE (see all 18)	2956-16-3	target	--	11279193

10/13 Novoseek chemical compound relationships for GALE gene (see all 13) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
udpglucose	93.5	89	12534808 (4), 17553760 (3), 9326324 (2), 12867457 (2) (see all 39)
udp-n-acetylgalactosamine	91.1	5	15701638 (1), 17720833 (1), 17098903 (1), 15175331 (1)
galactose-1-phosphate	86.4	20	11117433 (2), 18428423 (2), 7873670 (2), 14970742 (1) (see all 11)
galactose	79.8	49	15701638 (5), 11117433 (2), 17253981 (2), 16385452 (2) (see all 24)
udp-n-acetylglucosamine	71	2	15701638 (1), 15175331 (1)
uridine diphosphate	56.7	2	12534808 (1), 10892349 (1)
nad+	51.2	5	11551228 (2), 11313358 (1), 8241177 (1), 16496696 (1)
nadh	44.8	2	12832414 (1), 15026177 (1)
hydride	31.8	1	8241177 (1)
mannitol	31.4	2	18428423 (1), 9700591 (1)

Search CenterWatch for drugs/clinical trials and news about GALE

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GALE gene (3 alternative transcripts):

NM_000403.3 NM_001008216.1 NM_001127621.1

Unigene Cluster for GALE:

UDP-galactose-4-epimerase

Hs.632380 [show with all ESTs]

Unigene Representative Sequence: NM_000403

15 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000481736(uc001bhz.1) ENST00000374497(uc009vqo.1 uc001bhv.1 uc001bhx.1)

ENST00000456977 ENST00000459934 ENST00000469556 ENST00000429356 ENST00000418277

ENST00000470949 ENST00000425913 ENST00000445705 ENST00000467493(uc009vqq.1)

ENST00000486382 ENST00000470383 ENST00000466250 ENST00000467070

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GALE
		8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate GALE (see all 17):
		hsa-let-7d hsa-miR-202 hsa-miR-765 hsa-let-7c hsa-let-7g hsa-miR-661 hsa-miR-654-5p hsa-let-7a

		SwitchGear 3'UTR luciferase reporter plasmid: GALE 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GALE (see all 7) OriGene shRNA RFP: GALE OriGene siRNA: GALE
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GALE

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GALE (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GALE (see all 4) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): GALE (NM_001008216)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for GALE
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALE

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GALE Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat GALE
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GALE
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GALE

Additional cDNA sequence:

AK314397.1 BC001273.1 BC050685.2 BC056880.1 DQ233668.1 L41668.1

22 DOTS entries:

DT.97847162 DT.100813329 DT.121382119 DT.455677 DT.92440563 DT.100813334 DT.100813338 DT.100813327

DT.100813335 DT.95153120 DT.100028470 DT.95329065 DT.100813336 DT.100813337 DT.95329063 DT.100813326

DT.121382130 DT.121382222 DT.95153122 DT.100813339 DT.102836786 DT.91720773

24/715 AceView cDNA sequences (see all 715):

BU679335 CR596991 BM851888 BI261366 BI855632 CR609456 BM851962 BP368916

BM721102 BU689704 CR624928 CR601378 BG741784 AA257049 CD722513 AV691133

AK096127 CR593217 BM762784 BM849315 CR625443 BU181518 CB134943 BQ897634

GeneLoc Exon Structure

5/21 Alternative Splicing Database (ASD) splice patterns (SP) for GALE (see all 21) About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	·	2c	^	3a	·	3b	^	4a	·	4b	·	4c	^	5	^	6a	·	6b	·	6c	·	6d	^	7a	·	7b	^	8a	·	8b	^	9	^	10a	·	10b	·	10c	^	11a	·	11b	^
SP1:																															-		-		-		-
SP2:																							-								-		-		-		-
SP3:							-		-		-		-		-		-		-				-								-		-		-		-
SP4:							-		-		-		-		-		-		-												-		-		-		-
SP5:											-		-		-		-		-												-		-		-		-

ExUns:	12a	·	12b	·	12c	^	13	^	14a	·	14b	·	14c	^	15a	·	15b	·	15c	·	15d
SP1:					-				-
SP2:					-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for GALE

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GALE expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGCCAAGGG

About this image

GALE expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See GALE Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GALE

SOURCE GeneReport for Unigene cluster: Hs.632380

SABiosciences Custom PCR Arrays for GALE

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GALE Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat GALE
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GALE
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GALE

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALE

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for GALE gene from 9/40 species (see all 40) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	GALE¹	UDP-galactose-4-epimerase	73.93(n) 76.16(a)		419686 XM_417833.3 XP_417833.3
lizard (Anolis carolinensis)	Reptilia	GALE⁶	--	79(a)	1 ↔ 1	GL343498.1(108728-112169)
African clawed frog (Xenopus laevis)	Amphibia	1n569-prov²	UDP-glucose (37.7 kD) (1N569)	76.46(n)		BC051601.1
zebrafish (Danio rerio)	Actinopterygii	wufb05f01²	Danio rerio, clone IMAGE5604458, mRNA	77.7(n)		BC050157.1
fruit fly (Drosophila melanogaster)	Insecta	CG12030³ Gale¹	galactose metabolism UDP-glucose 4-epimerase³ UDP-galactose 4'-epimerase¹	60(a)³ 63.95(n)¹ 60.64(a)¹		61C8³ 38076¹ NM_138200.3¹ NP_612044.1¹
worm (Caenorhabditis elegans)	Secernentea	C47B2.6³ gale-1¹	NAD dependant epimerase/dehydratase family³ Protein GALE-1¹	57(a)³ 55.29(n)¹ 57.94(a)¹		I(12983221-12985126)³ 173171¹ NM_001025880.1¹ NP_001021051.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	UGE5⁶ UGE2⁶ (see all 10)	UDP-D-glucose/UDP-D-galactose 4-epimerase 2 (see all 10)	59(a) 59(a) (see all 10)	1 ↔ many 1 ↔ many (see all 10)	4(6713557-6718550) 4(12431277-12433864)
rice (Oryza sativa)	Liliopsida	AB087745.1²	--	73.92(n)		AB087745.1
E. coli (Escherichia coli)	Gamma proteobacteria	galE⁶	UDP-galactose-4-epimerase	53(a)	1 ↔ 1	Chromosome(790262-791278)

ENSEMBL Gene Tree for GALE (if available)
TreeFam Gene Tree for GALE (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for GALE gene

UXS1² TGDS²

GALE for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28940885^1,2	C,F,	pathogenic	22374250(-)	`GCTGGG/AGTGGA`	6	/E /G	mis¹		2		NA	4520
rs3180383^1,2	C	pathogenic	22374269(+)	`GGCCAA/G/TGCTGG`	9	M L	mis¹ syn¹ ese³		2		MN NA	186
rs121908045^1,2	C	pathogenic	22375195(-)	`GCTGCC/TGCGCT`	6	P L	mis¹		0	--	--	--	--
rs137853859^1,2	C	pathogenic	22375785(-)	`TGATCA/C/TGGGAC`	9	R W	syn¹ mis¹		1		NA	4552
rs28940883^1,2	C	pathogenic	22376227(-)	`TCTGGA/GTTATT`	6	D G	mis¹ ese³		2		NA	4
rs121908047^1,2	C	pathogenic	22376255(-)	`AGGCCA/GTGGGC`	6	M V	mis¹		0	--	--	--	--
rs121908046^1,2	C	pathogenic	22376974(-)	`CGATAA/GCTTCC`	6	N S	mis¹		0	--	--	--	--
rs16831105^1,2	F	--	22373503(-)	`CCCACC/TGCCTC`	3	--	ds500¹		1		MN	184
rs2745^1,2	C,F	--	22373524(-)	`AAGACA/GAGACA`	3	--	ds500¹		1		MN	184
rs74062786^1,2	C,	--	22373530(+)	`GTCTTG/CTGTCT`	3	--	ds500¹		1		WA	2

HapMap Linkage Disequilibrium report for GALE (24122089 - 24127294 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for GALE: --
Human Gene Mutation Database (HGMD): GALE

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GALE

DNA2.0 Custom Variant and Variant Library Synthesis for GALE

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GALE for disorders           About GeneDecksing

OMIM gene information: 606953
OMIM disorders: 230350
UniProtKB/Swiss-Prot: GALE_HUMAN, Q14376

Defects in GALE are the cause of epimerase-deficiency galactosemia (EDG) [MIM:230350]; also known as

galactosemia type 3. Clinical features include early-onset cataracts, liver damage, deafness and mental retardation.

There are two clinically distinct forms of EDG. (1) A benign, or 'peripheral' form with no detectable GALE activity in

red blood cells and characterized by mild symptoms. Some patients may suffer no symptoms beyond raised levels of

galactose-1-phosphate in the blood. (2) A much rarer 'generalized' form with undetectable levels of GALE activity in

all tissues and resulting in severe features such as restricted growth and mental development

17 diseases for GALE: About MalaCards

galactosemia galactose epimerase deficiency cataract guillain-barre syndrome

paranoid state typhoid fever haemophilus influenzae gastroenteritis

papillary thyroid carcinoma kidney sarcoma convulsions thyroid carcinoma

influenza thyroiditis pneumonia carcinoma

neuronitis

2 diseases from the University of Copenhagen DISEASES database for GALE:

Galactosemia Typhoid fever

3 Novoseek disease relationships for GALE gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gale deficiency	98.5	24	16301867 (4), 15639193 (3), 14970742 (2), 16611573 (1) (see all 11)
galactosemias	92.1	28	16301867 (4), 9538513 (4), 19250319 (2), 9326324 (1) (see all 15)
cataract	0	2	8295413 (1), 11258124 (1)

Genatlas disease: GALE

galactosemia,type III

Genetic Association Database (GAD): GALE

Export disorders for GALE gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for GALE gene, integrated from 9 sources (see all 97):
(articles sorted by number of sources associating them with GALE)

Utopia: connect your pdf to the dynamic
world of online information

Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase. (PubMed id 8593531)^{1, 2, 3, 9} Daude N.... Reichardt J.K.V. (1995)
Identification and characterization of a mutation, in the human UDP- galactose-4-epimerase gene, associated with generalized epimerase- deficiency galactosemia. (PubMed id 9973283)^{1, 2, 4, 9} Wohlers T.M.... Fridovich-Keil J.L. (1999)
Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase. (PubMed id 11279193)^{1, 2, 7, 9} Thoden J.B.... Holden H.M. (2001)
The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients. (PubMed id 16301867)^{1, 2, 9} Park H.-D.... Song J. (2005)
Functional analysis of disease-causing mutations in human UDP- galactose 4-epimerase. (PubMed id 16302980)^{1, 2, 9} Timson D.J. (2005)
Human UDP-galactose 4'epimerase (GALE) gene and identification of five missense mutations in patients with epimerase deficiency galactosemia. (PubMed id 9538513)^{1, 2, 9} Maceratesi P.... Reichardt J.K.V. (1998)
Characterization of two mutations associated with epimerase- deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase. (PubMed id 9326324)^{1, 2, 9} Quimby B.B....Fridovich-Keil J.L. (1997)
Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia. (PubMed id 15639193)^{1, 2, 9} Wasilenko J....Fridovich-Keil J.L. (2005)
Determinants of function and substrate specificity in human UDP- galactose 4'-epimerase. (PubMed id 15175331)^{1, 2, 9} Schulz J.M.... Fridovich-Keil J.L. (2004)
Crystallographic evidence for Tyr 157 functioning as the active site Proton acceptor in human UDP-galactose 4-epimerase. (PubMed id 10801319)^{1, 2, 9} Thoden J.B.... Holden H.M. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2582	HGNC: 4116	AceView: HMGCLandGALE	Ensembl:ENSG00000117308	euGenes: HUgn2582
ECgene: GALE	Kegg: 2582	H-InvDB: GALE

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for GALE	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for GALE	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GALE

Intellectual Property for GALE gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for GALE gene:
Search GeneIP for patents involving GALE

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	OriGene Antibodies for GALE		OriGene shRNA RFP for GALE
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GALE		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GALE
	OriGene Protein Over-expression Lysate for GALE		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for GALE		Browse 3'-UTR reporter clones for miRNA target validation
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GALE		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GALE
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	OriGene Purified Protein for GALE		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for GALE		OriGene Custom Protein Services for GALE
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GALE
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GALE
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GALE
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GALE
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GALE
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GALE

	GenScript Custom Purified and Recombinant Proteins Services for GALE		GenScript cDNA clones with any tag delivered in your preferred vector for GALE
	GenScript Custom Assay Services for GALE		GenScript Custom Superior Antibodies Services for GALE
	GenScript Custom overexpressing Cell Line Services for GALE		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in GALE promoter
	Search Chromatin IP Primers for GALE
	RT² qPCR Primer Assay in human, mouse, rat GALE
	Search GNC Networks for GALE
	SABiosciences Custom PCR Arrays for GALE

Search Tocris compounds for GALE

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	GALE antibodies
	GALE proteins
	GALE lysates

	Antibodies for GALE
	See all of Abcam's Antibodies, Kits and Proteins for GALE
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Recombinant Protein for GALE

GALE Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for GALE

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALE

	SwitchGear 3'UTR luciferase reporter plasmids for GALE
	SwitchGear Promoter luciferase reporter plasmids for GALE

Search ThermoFisher Antibodies for GALE

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALE

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes GALE gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4

Advanced Search

Export list of displayed genes

GALE Gene

UDP-galactose-4-epimerase

Aliases
for GALE gene

Summaries
for GALE gene

Genomic Views
for GALE gene

Proteins
for GALE gene

Protein Domains /
Families
for GALE gene

Function
for GALE gene

Pathways & Interactions
for GALE gene

Drugs & Compounds
for GALE gene

Transcripts
for GALE gene

Expression
for GALE gene

Orthologs
for GALE gene

Paralogs
for GALE gene

Genomic Variants
for GALE gene

Disorders / Diseases
for GALE gene

Publications
for GALE gene

External Searches for GALE gene

Genome Databases showing GALE gene

Other Databases showing GALE gene

Specialized Databases showing GALE gene

Intellectual Property
for GALE gene

Products
for GALE gene

View Random Gene

Advanced Search

Export list of displayed genes

GALE Gene

UDP-galactose-4-epimerase

Aliasesfor GALE gene

Summariesfor GALE gene

Genomic Viewsfor GALE gene

Proteinsfor GALE gene

Protein Domains /Familiesfor GALE gene

Functionfor GALE gene

Pathways & Interactionsfor GALE gene

Drugs & Compoundsfor GALE gene

Transcriptsfor GALE gene

Expression for GALE gene

Orthologsfor GALE gene

Paralogsfor GALE gene

Genomic Variantsfor GALE gene

Disorders / Diseasesfor GALE gene

Publicationsfor GALE gene

External Searches for GALE gene

Genome Databases showing GALE gene

Other Databases showing GALE gene

Specialized Databases showing GALE gene

Intellectual Propertyfor GALE gene

Productsfor GALE gene

View Random Gene

Aliases
for GALE gene

Summaries
for GALE gene

Genomic Views
for GALE gene

Proteins
for GALE gene

Protein Domains /
Families
for GALE gene

Function
for GALE gene

Pathways & Interactions
for GALE gene

Drugs & Compounds
for GALE gene

Transcripts
for GALE gene

Expression
for GALE gene

Orthologs
for GALE gene

Paralogs
for GALE gene

Genomic Variants
for GALE gene

Disorders / Diseases
for GALE gene

Publications
for GALE gene

Intellectual Property
for GALE gene

Products
for GALE gene