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

    Gene ID: 2582, updated on 19-May-2018
    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; Vega:OTTHUMG00000002958
    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
    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 II Neighboring gene 3-hydroxymethyl-3-methylglutaryl-CoA lyase Neighboring gene uncharacterized LOC105376861

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    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 EXP
    Inferred from Experiment
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    galactose catabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    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
    galactose-4-epimerase, UDP-
    galactowaldenase
    short chain dehydrogenase/reductase family 1E, member 1
    NP_000394.2
    NP_001008217.1
    NP_001121093.1

    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, OTTHUMP00000002991, ENST00000374497.7, OTTHUMT00000008232
      Conserved Domains (1) summary
      cd05247
      Location:4338
      UDP_G4E_1_SDR_e; UDP-glucose 4 epimerase, subgroup 1, extended (e) SDRs
    2. NM_001008216.1NP_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 details...Open this link in a new tab

    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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