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

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: mouse all
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Genomic context

Location:: 9p13.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (34646675..34651035)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (34665194..34669563)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (34646672..34651032)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
A founder noncoding GALT variant interfering with splicing causes galactosemia.
Title: A founder noncoding GALT variant interfering with splicing causes galactosemia.
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.
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.
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.
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.
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.

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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

Associated conditions

Description	Tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase MedGen: C0268151 OMIM: 230400 GeneReviews: Classic Galactosemia and Clinical Variant Galactosemia, Duarte Variant Galactosemia	Compare labs

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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	TAS Traceable Author Statement more info
involved_in galactose catabolic process via UDP-galactose	IBA Inferred from Biological aspect of Ancestor 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

EC 2.7.7.12

NP_001245261.1

EC 2.7.7.12

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

NG_009029.2 RefSeqGene

Range

5087..9447

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

34646675..34651035

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

34665194..34669563

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.
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.