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

Gene ID: 2592, updated on 21-Apr-2019

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

Genomic context

See GALT in Genome Data Viewer
Location:
9p13.3
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 LOC107987063 Neighboring gene uncharacterized LOC730098 Neighboring gene C-C motif chemokine ligand 27

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

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, ENST00000378842.7
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

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