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GALE UDP-galactose-4-epimerase [ Homo sapiens (human) ]

Gene ID: 2582, updated on 13-Feb-2019

Summary

Official Symbol
GALEprovided by HGNC
Official Full Name
UDP-galactose-4-epimeraseprovided by HGNC
Primary source
HGNC:HGNC:4116
See related
Ensembl:ENSG00000117308 MIM:606953
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SDR1E1
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 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 cognitive disability, 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]
Expression
Broad expression in stomach (RPKM 46.3), duodenum (RPKM 23.9) and 19 other tissues See more
Orthologs

Genomic context

See GALE in Genome Data Viewer
Location:
1p36.11
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (23795599..23800804, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (24122089..24127294, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene PITH domain containing 1 Neighboring gene uncharacterized LOC105376860 Neighboring gene lysophospholipase 2 Neighboring gene 3-hydroxy-3-methylglutaryl-CoA lyase Neighboring gene uncharacterized LOC105376861

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: HMGCL

Homology

Clone Names

  • FLJ95174, FLJ97302

Gene Ontology Provided by GOA

Function Evidence Code Pubs
UDP-N-acetylglucosamine 4-epimerase activity IEA
Inferred from Electronic Annotation
more info
 
UDP-glucose 4-epimerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
UDP-glucose 4-epimerase activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
galactose catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
galactose catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
galactose catabolic process TAS
Traceable Author Statement
more info
 
galactose catabolic process via UDP-galactose IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
UDP-glucose 4-epimerase
Names
UDP galactose-4'-epimerase
UDP-GalNAc 4-epimerase
UDP-GlcNAc 4-epimerase
UDP-N-acetylgalactosamine 4-epimerase
UDP-N-acetylglucosamine 4-epimerase
epididymis secretory sperm binding protein
galactose-4-epimerase, UDP-
galactowaldenase
short chain dehydrogenase/reductase family 1E, member 1
NP_000394.2
NP_001008217.1
NP_001121093.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007068.1 RefSeqGene

    Range
    5001..10206
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000403.3NP_000394.2  UDP-glucose 4-epimerase

    See identical proteins and their annotated locations for NP_000394.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    BC001273, BC056880, BI835132, BQ437612
    Consensus CDS
    CCDS242.1
    UniProtKB/Swiss-Prot
    Q14376
    Related
    ENSP00000363621.3, ENST00000374497.7
    Conserved Domains (1) summary
    cd05247
    Location:4338
    UDP_G4E_1_SDR_e; UDP-glucose 4 epimerase, subgroup 1, extended (e) SDRs
  2. NM_001008216.2NP_001008217.1  UDP-glucose 4-epimerase

    See identical proteins and their annotated locations for NP_001008217.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AL530475, BC050685
    Consensus CDS
    CCDS242.1
    UniProtKB/Swiss-Prot
    Q14376
    Related
    ENSP00000483375.1, ENST00000617979.4
    Conserved Domains (1) summary
    cd05247
    Location:4338
    UDP_G4E_1_SDR_e; UDP-glucose 4 epimerase, subgroup 1, extended (e) SDRs
  3. NM_001127621.1NP_001121093.1  UDP-glucose 4-epimerase

    See identical proteins and their annotated locations for NP_001121093.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AK314397, BC050685, DA043957
    Consensus CDS
    CCDS242.1
    UniProtKB/Swiss-Prot
    Q14376
    Conserved Domains (1) summary
    cd05247
    Location:4338
    UDP_G4E_1_SDR_e; UDP-glucose 4 epimerase, subgroup 1, extended (e) SDRs

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    23795599..23800804 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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