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    GALT galactose-1-phosphate uridylyltransferase [ Homo sapiens (human) ]

    Gene ID: 2592, updated on 16-Jul-2021

    Summary

    Official Symbol
    GALTprovided by HGNC
    Official Full Name
    galactose-1-phosphate uridylyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:4135
    See related
    Ensembl:ENSG00000213930 MIM:606999
    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
    Summary
    Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
    Expression
    Ubiquitous expression in duodenum (RPKM 23.8), liver (RPKM 21.4) and 25 other tissues See more
    Orthologs
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    Genomic context

    See GALT in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (34646675..34651035)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34646672..34651032)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene sigma non-opioid intracellular receptor 1 Neighboring gene Sharpr-MPRA regulatory region 8240 Neighboring gene interleukin 11 receptor subunit alpha Neighboring gene uncharacterized LOC107987063 Neighboring gene C-C motif chemokine ligand 27 Neighboring gene uncharacterized LOC730098

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: IL11RA

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in UDP-glucose catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in UDP-glucose metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in galactose catabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in galactose catabolic process via UDP-galactose IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in galactose metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    galactose-1-phosphate uridylyltransferase
    Names
    UDP-glucose--hexose-1-phosphate uridylyltransferase
    gal-1-P uridylyltransferase
    galactose-1-phosphate uridyl transferase
    NP_000146.2
    NP_001245261.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_009029.2 RefSeqGene

      Range
      5087..9447
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000155.4NP_000146.2  galactose-1-phosphate uridylyltransferase isoform 1

      See identical proteins and their annotated locations for NP_000146.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI292159, AK314340, AL162231, BC015045
      Consensus CDS
      CCDS6565.1
      UniProtKB/Swiss-Prot
      P07902
      UniProtKB/TrEMBL
      A0A0S2Z3Y7, B2RAT6
      Related
      ENSP00000368119.4, ENST00000378842.8
      Conserved Domains (2) summary
      PRK11720
      Location:23366
      PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
      cd00608
      Location:31361
      GalT; Galactose-1-phosphate uridyl transferase (GalT): This enzyme plays a key role in galactose metabolism by catalysing the transfer of a uridine 5'-phosphoryl group from UDP-galactose 1-phosphate. The structure of E.coli GalT reveals that the enzyme ...
    2. NM_001258332.2NP_001245261.1  galactose-1-phosphate uridylyltransferase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate coding exons compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AI292159, AK303279, AK314340, AL162231
      Consensus CDS
      CCDS59122.1
      UniProtKB/Swiss-Prot
      P07902
      UniProtKB/TrEMBL
      B2RAT6
      Related
      ENSP00000401956.2, ENST00000450095.6
      Conserved Domains (1) summary
      cd00608
      Location:17252
      GalT; Galactose-1-phosphate uridyl transferase (GalT): This enzyme plays a key role in galactose metabolism by catalysing the transfer of a uridine 5'-phosphoryl group from UDP-galactose 1-phosphate. The structure of E.coli GalT reveals that the enzyme ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      34646675..34651035
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_147131.1: Suppressed sequence

      Description
      NM_147131.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    2. NM_147132.1: Suppressed sequence

      Description
      NM_147132.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
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