GALE

GENERAL INFORMATION

? »

Gene name

GALE

Gene description

UDP-galactose-4-epimerase

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

7
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Moderate to strong cytoplasmic and nuclear staining was observed in most normal tissues.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA007340
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
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



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

? »

Gene name

GALE (HGNC Symbol)

Synonyms

SDR1E1

Description

UDP-galactose-4-epimerase (HGNC Symbol)

Entrez gene summary

This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and mental retardation, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

Chromosome

1

Cytoband

p36.11

Chromosome location (bp)

23795599 - 23800804

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000117308 (version 78.38)

Entrez gene

2582

UniProt

Q14376 (UniProt - Evidence at protein level)

neXtProt

NX_Q14376

Antibodypedia

GALE antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000374497
 
ENST00000418277
 
ENST00000425913
 
ENST00000429356
 
ENST00000445705
 
ENST00000456977
 
ENST00000617979
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GALE-001 ENSP00000363621
ENST00000374497
Q14376
Show all »
Show » Show » 348 38.3 No 0
GALE-005 ENSP00000393359
ENST00000425913
Q5QPP1
Show all »
Show » Show » 195 21.5 No 0
GALE-007 ENSP00000414719
ENST00000418277
Q5QPP3
Show all »
Show » Show » 227 25 No 0
GALE-008 ENSP00000398257
ENST00000445705
Q5QPP1
Show all »
Show » Show » 194 21.4 No 0
GALE-012 ENSP00000397045
ENST00000456977
Q5QPP9
Show all »
Show » Show » 108 12 No 0
GALE-015 ENSP00000398585
ENST00000429356
Q5QPP4
Show all »
Show » Show » 239 26.4 No 0
GALE-201 ENSP00000483375
ENST00000617979
Q14376
Show all »
Show » Show » 348 38.3 No 0