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GLA

GENERAL INFORMATION

Gene name

 GLA

Gene description

 Galactosidase, alpha

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted secreted proteins

Predicted localization

 Secreted

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Granular cytoplasmic expression, most abundant in glandular cells.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA000237 , HPA000966
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Adrenal gland

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 GLA (HGNC Symbol)

Synonyms

 GALA

Description

 Galactosidase, alpha (HGNC Symbol)

Entrez gene summary

 This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]

Chromosome

 X

Cytoband

 q22.1

Chromosome location (bp)

 101397803 - 101407925

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000102393 (version 83.38)

Entrez gene

 2717

UniProt

 P06280 (UniProt - Evidence at protein level)

neXtProt

 NX_P06280

Antibodypedia

 GLA antibodies

PROTEIN BROWSER
GLA-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GLA-001
ENSP00000218516
ENST00000218516
P06280 [Direct mapping]
Alpha-galactosidase A
Q53Y83 [Target identity:100%; Query identity:100%]
Galactosidase, alpha; Galactosidase, alpha, isoform CRA_a; cDNA FLJ76285, highly similar to Homo sapiens galactosidase, alpha (GLA), mRNA
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Enzymes
   ENZYME proteins
   Hydrolases
   MEMSAT3 predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0003824 [catalytic activity]
GO:0004553 [hydrolase activity, hydrolyzing O-glycosyl compounds]
GO:0004557 [alpha-galactosidase activity]
GO:0005102 [receptor binding]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005737 [cytoplasm]
GO:0005764 [lysosome]
GO:0005794 [Golgi apparatus]
GO:0005975 [carbohydrate metabolic process]
GO:0006665 [sphingolipid metabolic process]
GO:0006687 [glycosphingolipid metabolic process]
GO:0009311 [oligosaccharide metabolic process]
GO:0016139 [glycoside catabolic process]
GO:0016787 [hydrolase activity]
GO:0016936 [galactoside binding]
GO:0042803 [protein homodimerization activity]
GO:0043202 [lysosomal lumen]
GO:0044281 [small molecule metabolic process]
GO:0045019 [negative regulation of nitric oxide biosynthetic process]
GO:0046477 [glycosylceramide catabolic process]
GO:0046479 [glycosphingolipid catabolic process]
GO:0051001 [negative regulation of nitric-oxide synthase activity]
GO:0052692 [raffinose alpha-galactosidase activity]
GO:0070062 [extracellular exosome]
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 429 aa
48.8 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.