Seroatlas · Human Serome Atlas

GALT

Galactose-1-phosphate uridylyltransferase

Also known as: GALT_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P07902
Gene
GALT
Ensembl
ENSG00000213930
Chromosome
9
Canonical length
379 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Cytosol
Quaternary structure
Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

379 residues, UniProt reviewed canonical sequence.

>P07902|GALT
     1  MSRSGTDPQQ RQQASEADAA AATFRANDHQ HIRYNPLQDE WVLVSAHRMK RPWQGQVEPQ
    61  LLKTVPRHDP LNPLCPGAIR ANGEVNPQYD STFLFDNDFP ALQPDAPSPG PSDHPLFQAK
   121  SARGVCKVMC FHPWSDVTLP LMSVPEIRAV VDAWASVTEE LGAQYPWVQI FENKGAMMGC
   181  SNPHPHCQVW ASSFLPDIAQ REERSQQAYK SQHGEPLLME YSRQELLRKE RLVLTSEHWL
   241  VLVPFWATWP YQTLLLPRRH VRRLPELTPA ERDDLASIMK KLLTKYDNLF ETSFPYSMGW
   301  HGAPTGSEAG ANWNHWQLHA HYYPPLLRSA TVRKFMVGYE MLAQAQRDLT PEQAAERLRA
   361  LPEVHYHLGQ KDRETATIA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GALT can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
44 nTPM

Expression across tissuesHPA

Tissue

  • liver: 44 nTPM
  • duodenum: 14 nTPM
  • small intestine: 12 nTPM
  • adrenal gland: 12 nTPM
  • parathyroid gland: 11 nTPM
  • salivary gland: 9.7 nTPM

Single-cell type

  • astrocytes: 29 nCPM
  • bergmann glia: 29 nCPM
  • other brain neurons: 28 nCPM
  • brain inhibitory neurons: 25 nCPM
  • brain excitatory neurons: 23 nCPM
  • retinal amacrine cells: 17 nCPM

Immune cell

  • T-reg: 30 nTPM
  • NK-cell: 29 nTPM
  • memory CD4 T-cell: 25 nTPM
  • memory B-cell: 25 nTPM
  • classical monocyte: 24 nTPM
  • myeloid DC: 22 nTPM

Brain region

  • hypothalamus: 8.5 nTPM
  • thalamus: 7.5 nTPM
  • pons: 7.1 nTPM
  • cerebellum: 6.8 nTPM
  • medulla oblongata: 6.7 nTPM
  • midbrain: 6.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GALT.

Disease | AllUniProt

Conditions GALT is implicated in, by any mechanism.

Disease | GeneticClinVar

337 pathogenic / likely-pathogenic of 983 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.86
gnomAD pLI
0
gnomAD missense Z
0.91
DepMap mean gene effect
-0.08
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • HIT-like superfamily
  • Galactose-1-phosphate uridyl transferase, class I
  • Galactose-1-phosphate uridyl transferase, N-terminal
  • Galactose-1-phosphate uridyl transferase, C-terminal
  • Galactose-1-phosphate uridyl transferase, class I His-active site
  • Galactose-1-phosphate uridyl transferase, N-terminal domain
  • Galactose-1-phosphate uridyl transferase, C-terminal domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GALT in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GALT as an antibody target. Whether an autoantibody or antibody against GALT could matter depends on whether native GALT is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GALT is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GALT as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GALT. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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