GALT

GENERAL INFORMATION

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Gene name

GALT

Gene description

Galactose-1-phosphate uridylyltransferase

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic and nuclear expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA004868 , HPA005729
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

GALT

Synonyms

Description

Galactose-1-phosphate uridylyltransferase (HGNC Symbol)

Entrez gene 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]

Chromosome

9

Cytoband

p13.3

Chromosome location (bp)

34638133 - 34651035

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000213930 (version 78.38)

Entrez gene

2592

UniProt

P07902 (UniProt - Evidence at protein level)

neXtProt

NX_P07902

Antibodypedia

GALT antibodies


PROTEIN BROWSER

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ENST00000378842
 
ENST00000450095
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GALT-002 ENSP00000368119
ENST00000378842
P07902
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Show » Show » 379 43.4 No 0
GALT-201 ENSP00000401956
ENST00000450095
P07902
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Show » Show » 270 31.1 No 0