Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

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

    Gene ID: 2592, updated on 24-Jun-2017
    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; Vega:OTTHUMG00000019836
    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]
    Orthologs
    Location:
    9p13.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (34646589..34650598)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34646586..34650595)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene AT-rich interaction domain 3C Neighboring gene sigma non-opioid intracellular receptor 1 Neighboring gene interleukin 11 receptor subunit alpha Neighboring gene uncharacterized LOC107987062 Neighboring gene uncharacterized LOC730098 Neighboring gene C-C motif chemokine ligand 27

    • 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: IL11RA

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    UDP-glucose:hexose-1-phosphate uridylyltransferase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    UDP-glucose catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    galactose catabolic process TAS
    Traceable Author Statement
    more info
     
    galactose catabolic process via UDP-galactose IEA
    Inferred from Electronic Annotation
    more info
     
    galactose metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    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

    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
      5001..9010
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000155.3NP_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, BC015045, DA011092
      Consensus CDS
      CCDS6565.1
      UniProtKB/Swiss-Prot
      P07902
      UniProtKB/TrEMBL
      A0A0S2Z3Y7, B2RAT6
      Related
      ENSP00000368119.3, OTTHUMP00000021298, ENST00000378842.7, OTTHUMT00000052231
      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_001258332.1NP_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, DA011092
      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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      34646589..34650598
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      34646369..34650378
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center