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

Gene ID: 2592, updated on 29-Jul-2014
Official Symbol
GALTprovided by HGNC
Official Full Name
galactose-1-phosphate uridylyltransferaseprovided by HGNC
Primary source
HGNC:4135
Locus tag
hCG_2040046
See related
Ensembl:ENSG00000213930; HPRD:06106; 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]
See GALT in Epigenomics, MapViewer
Location:
9p13
Exon count:
11
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 interactive domain 3C (BRIGHT-like) Neighboring gene sigma non-opioid intracellular receptor 1 Neighboring gene uncharacterized LOC101929761 Neighboring gene interleukin 11 receptor, alpha Neighboring gene chemokine (C-C motif) ligand 27 Neighboring gene chemokine (C-C motif) ligand 19

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 IEA
Inferred from Electronic Annotation
more info
 
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
 
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
galactose catabolic process TAS
Traceable Author Statement
more info
 
galactose metabolic process TAS
Traceable Author Statement
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
galactose-1-phosphate uridylyltransferase
Names
galactose-1-phosphate uridylyltransferase
gal-1-P uridylyltransferase
galactose-1-phosphate uridyl transferase
UDP-glucose--hexose-1-phosphate uridylyltransferase
NP_000146.1
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_009029.1 

    Range
    4952..8961
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000155.3NP_000146.2  galactose-1-phosphate uridylyltransferase isoform 1

    See proteins identical to 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/TrEMBL
    B2RAT6
    UniProtKB/Swiss-Prot
    P07902
    Conserved Domains (2) summary
    PRK11720
    Location:23366
    Blast Score: 1607
    PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
    cd00608
    Location:31361
    Blast Score: 1300
    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/TrEMBL
    B2RAT6
    UniProtKB/Swiss-Prot
    P07902
    Related
    ENSP00000401956, ENST00000450095
    Conserved Domains (1) summary
    cd00608
    Location:17252
    Blast Score: 952
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12 

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

Alternate HuRef

Genomic

  1. AC_000141.1 

    Range
    34600857..34604875
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 

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