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

    Gene ID: 2592, updated on 2-Nov-2024

    Summary

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    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

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Frequency distribution of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Irish population. Tighe O, et al. Mol Genet Metab, 2004 Aug. PMID 15308134
    2. Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers. Murphy M, et al. Eur J Hum Genet, 1999 Jul. PMID 10439960
    3. Covalent heterogeneity of the human enzyme galactose-1-phosphate uridylyltransferase. Henderson JM, et al. J Biol Chem, 2000 Sep 29. PMID 10884393
    4. Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency. Trbusek M, et al. Hum Genet, 2001 Jul. PMID 11479743
    5. Large-scale molecular screening for galactosemia alleles in a pan-ethnic population. Suzuki M, et al. Hum Genet, 2001 Aug. PMID 11511927

    See all (129) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.
      Title: Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.
    2. Racial and ethnic diversity of classic and clinical variant galactosemia in the United States.
      Title: Racial and ethnic diversity of classic and clinical variant galactosemia in the United States.
    3. A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
      Title: A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
    4. Analysis of the Structure-Function-Dynamics Relationships of GALT Enzyme and of Its Pathogenic Mutant p.Q188R: A Molecular Dynamics Simulation Study in Different Experimental Conditions.
      Title: Analysis of the Structure-Function-Dynamics Relationships of GALT Enzyme and of Its Pathogenic Mutant p.Q188R: A Molecular Dynamics Simulation Study in Different Experimental Conditions.
    5. A founder noncoding GALT variant interfering with splicing causes galactosemia.
      Title: A founder noncoding GALT variant interfering with splicing causes galactosemia.
    6. Galactose 1-phosphate accumulates to high levels in galactose-treated cells due to low GALT activity and absence of product inhibition of GALK.
      Title: Galactose 1-phosphate accumulates to high levels in galactose-treated cells due to low GALT activity and absence of product inhibition of GALK.
    7. Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants.
      Title: Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants.
    8. Biallelic pathogenic variants in the GALT gene are associated with galactosemia.
      Title: Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey.
    9. This review summarizes the current knowledge of galactosemia, in particular the putative mechanisms of neonatal and long-term complications and the molecular genetics of GALT deficiency.
      Title: Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants.
    10. Although all individuals in this study showed markedly reduced RBC GALT activity, we observed significant differences in RBC GAL1P concentrations among galactosemia genotypes.
      Title: Effect of genotype on galactose-1-phosphate in classic galactosemia patients.
    Submit: New GeneRIF Correction See all GeneRIFs (59)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: IL11RA

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-glucose:hexose-1-phosphate uridylyltransferase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables UDP-glucose:hexose-1-phosphate uridylyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UDP-glucose:hexose-1-phosphate uridylyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables UDP-glucose:hexose-1-phosphate uridylyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in UDP-glucose metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in galactose catabolic process via UDP-galactose IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in galactose catabolic process via UDP-galactose TAS
    Traceable Author Statement
    more info
    		  
    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
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    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_000155.4 → NP_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:23 → 366
      PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
      cd00608
      Location:31 → 361
      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_001258332.2 → NP_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:17 → 252
      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)

    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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P07902.3 GenPept UniProtKB/Swiss-Prot:P07902

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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