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

Gene ID: 2592, updated on 4-Jan-2025

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; AllianceGenome:HGNC:4135
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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (34646675..34651035)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (34665194..34669563)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34646672..34651032)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34624191-34624739 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19853 Neighboring gene Sharpr-MPRA regulatory region 8240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28314 Neighboring gene AT-rich interaction domain 3C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34654819-34655434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34659625-34660126 Neighboring gene sigma non-opioid intracellular receptor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19855 Neighboring gene uncharacterized LOC730098 Neighboring gene interleukin 11 receptor subunit alpha Neighboring gene C-C motif chemokine ligand 27 Neighboring gene PHD finger protein 24

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

General gene information

Potential readthrough

Included gene: IL11RA

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in Golgi apparatus PubMed 
is_active_in cytoplasm  
located_in cytosol  

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)

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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
    B4E097, E7ET32, P07902, Q14355, Q14356, Q14357, Q14358, Q14359, Q14360, Q14361, Q14363, Q14364, Q14365, Q14369, Q14370, Q14371, Q14372, Q14373, Q14374, Q14375, Q14377, Q14378, Q14380, Q14381, Q14382, Q14383, Q14384, Q14385, Q14386, Q14387, Q14389, Q16766, Q53XK1, Q5VZ81, Q96BY1
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    34665194..34669563
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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