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Aliases for GLA Gene

Aliases for GLA Gene

  • Galactosidase Alpha 2 3 5
  • Alpha-D-Galactosidase A 3 4
  • EC 3.2.1.22 4 63
  • Melibiase 3 4
  • Alpha-D-Galactoside Galactohydrolase 1 3
  • Alpha-D-Galactoside Galactohydrolase 4
  • Galactosidase, Alpha 3
  • Agalsidase Alfa 3
  • Alpha-Gal A 3
  • Agalsidase 4
  • EC 3.2.1 63
  • GALA 3

External Ids for GLA Gene

Previous GeneCards Identifiers for GLA Gene

  • GC0XM095944
  • GC0XM097623
  • GC0XM098688
  • GC0XM099424
  • GC0XM100458
  • GC0XM100539
  • GC0XM100652
  • GC0XM090459

Summaries for GLA Gene

Entrez Gene Summary for GLA Gene

  • 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]

GeneCards Summary for GLA Gene

GLA (Galactosidase Alpha) is a Protein Coding gene. Diseases associated with GLA include fabry disease and classic fabry disease. Among its related pathways are Metabolism and Glycosphingolipid biosynthesis - globo series. GO annotations related to this gene include protein homodimerization activity and hydrolase activity. An important paralog of this gene is NAGA.

Gene Wiki entry for GLA Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLA Gene

Genomics for GLA Gene

Regulatory Elements for GLA Gene

Promoters for GLA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GLA on UCSC Golden Path with GeneCards custom track

Genomic Location for GLA Gene

Chromosome:
X
Start:
101,397,791 bp from pter
End:
101,408,013 bp from pter
Size:
10,223 bases
Orientation:
Minus strand

Genomic View for GLA Gene

Genes around GLA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLA Gene

Proteins for GLA Gene

  • Protein details for GLA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06280-AGAL_HUMAN
    Recommended name:
    Alpha-galactosidase A
    Protein Accession:
    P06280
    Secondary Accessions:
    • Q6LER7

    Protein attributes for GLA Gene

    Size:
    429 amino acids
    Molecular mass:
    48767 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for GLA Gene

neXtProt entry for GLA Gene

Proteomics data for GLA Gene at MOPED

Selected DME Specific Peptides for GLA Gene

Post-translational modifications for GLA Gene

  • Ubiquitination at Lys 240, Lys 326, and Lys 393
  • Glycosylation at Asn 139, Asn 192, and Asn 215
  • Modification sites at PhosphoSitePlus

Other Protein References for GLA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for GLA (alpha-Galactosidase A/GLA)

Domains & Families for GLA Gene

Suggested Antigen Peptide Sequences for GLA Gene

Graphical View of Domain Structure for InterPro Entry

P06280

UniProtKB/Swiss-Prot:

AGAL_HUMAN :
  • Belongs to the glycosyl hydrolase 27 family.
Family:
  • Belongs to the glycosyl hydrolase 27 family.
genes like me logo Genes that share domains with GLA: view

No data available for Gene Families for GLA Gene

Function for GLA Gene

Molecular function for GLA Gene

GENATLAS Biochemistry:
galactosidase,alpha
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactolipids.

Enzyme Numbers (IUBMB) for GLA Gene

Gene Ontology (GO) - Molecular Function for GLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IDA 1332979
GO:0016787 hydrolase activity TAS 7911050
GO:0052692 raffinose alpha-galactosidase activity IEA --
genes like me logo Genes that share ontologies with GLA: view
genes like me logo Genes that share phenotypes with GLA: view

Human Phenotype Ontology for GLA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GLA Gene

MGI Knock Outs for GLA:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for GLA Gene

Localization for GLA Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLA Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GLA Gene COMPARTMENTS Subcellular localization image for GLA gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
golgi apparatus 4
cytosol 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IMP 1332979
genes like me logo Genes that share ontologies with GLA: view

Pathways & Interactions for GLA Gene

genes like me logo Genes that share pathways with GLA: view

Interacting Proteins for GLA Gene

Gene Ontology (GO) - Biological Process for GLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046479 glycosphingolipid catabolic process TAS 2160973
GO:0051001 negative regulation of nitric-oxide synthase activity ISS --
genes like me logo Genes that share ontologies with GLA: view

No data available for SIGNOR curated interactions for GLA Gene

Drugs & Compounds for GLA Gene

(48) Drugs for GLA Gene - From: Novoseek, DGIdb, DrugBank, ClinicalTrials, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aluminum hydroxide Approved Pharma 178
Sucrose Experimental Pharma 0
Glycerol Experimental Pharma 191
Sorbitol Experimental Pharma 24
Migalastat Investigational Pharma modulator, Target 0

(74) Additional Compounds for GLA Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
melibiose
  • 6-(a-D-Galactosido)-D-glucose
  • 6-(a-delta-Galactosido)-delta-glucose
  • 6-(D-Galactosido)-D-glucose
  • 6-(D-Galactosido)-delta-glucose
  • 6-O-a-D-Galactopyranosyl-D-Glucose
585-99-9
raffinose
  • 6G-alpha-D-Galactosylsucrose
  • 6G-alpha-delta-Galactosylsucrose
  • D-(+)-Raffinose
  • D-Raffinose
  • delta-(+)-Raffinose
512-69-6
stachyose
  • beta-D-Fructofuranosyl O-alpha-D-galactopyranosyl-(1->6)-O-alpha-D-galactopyranosyl-(1->6)-alpha-D-Glucopyranoside
  • D-Stachyose
470-55-3
1,2-Di-(9Z,12Z,15Z-octadecatrienoyl)-3-(Galactosyl-alpha-1-6-Galactosyl-beta-1)-glycerol
  • 1,2 Di-(9Z,12Z,15Z-octadecatrienoyl)-3-( Gal alpha 1-6Gal beta 1)-sn-glycerol
  • 1,2 Di-(9Z,12Z,15Z-octadecatrienoyl)-3-(Gal alpha 1-6Gal beta 1)-sn-glycerol
  • 1,2 Di-(9Z,12Z,15Z-octadecatrienoyl)-3-(Gala1-6Galb1)-sn-glycerol
  • [2-[(9Z,12Z,15Z)-octadeca-9,12,15-trienoyl]oxy-3-[(2R,3R,4S,5R,6R)-3,4,5-trihydroxy-6-[[(2S,3R,4S,5R,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)tetrahydropyran-2-yl]oxymethyl]tetrahydropyran-2-yl]oxy-propyl] (9Z,12Z,15Z)-octadeca-9,12,15-trienoate
  • [2-[(9Z,12Z,15Z)-octadeca-9,12,15-trienoyl]oxy-3-[(2R,3R,4S,5R,6R)-3,4,5-trihydroxy-6-[[(2S,3R,4S,5R,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)tetrahydropyran-2-yl]oxymethyl]tetrahydropyran-2-yl]oxy-propyl] (9Z,12Z,15Z)-octadeca-9,12,15-trienoic acid
1,2-Dioctadecanoyl-3-(galactosyl-B-1-6-galactosyl-B-1)-glycerol
  • 1,2-Dioctadecanoyl-3-(GlcB1-6GlcB1)-sn-glycerol
  • DGDG
  • Digalactosyl diacyl glycerol
  • [(2S)-1-octadecanoyloxy-3-[(2R,3S,4S,5R,6S)-3,4,5-trihydroxy-6-[[(2S,3R,4S,5R,6S)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxymethyl]oxan-2-yl]oxypropan-2-yl] octadecanoate
  • [(2S)-1-octadecanoyloxy-3-[(2R,3S,4S,5R,6S)-3,4,5-trihydroxy-6-[[(2S,3R,4S,5R,6S)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxymethyl]oxan-2-yl]oxypropan-2-yl] octadecanoic acid
genes like me logo Genes that share compounds with GLA: view

Transcripts for GLA Gene

Unigene Clusters for GLA Gene

Galactosidase, alpha:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLA Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b
SP1: - - - - -
SP2: - - - -
SP3: - -
SP4: - - - -
SP5: - - - -
SP6:
SP7:
SP8:

Relevant External Links for GLA Gene

GeneLoc Exon Structure for
GLA
ECgene alternative splicing isoforms for
GLA

Expression for GLA Gene

mRNA expression in normal human tissues for GLA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GLA Gene

This gene is overexpressed in Whole Blood (x6.1).

Protein differential expression in normal tissues from HIPED for GLA Gene

This gene is overexpressed in Urine (10.9), Seminal vesicle (10.4), Fetal gut (7.6), and Adrenal (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GLA Gene



SOURCE GeneReport for Unigene cluster for GLA Gene Hs.69089

genes like me logo Genes that share expression patterns with GLA: view

Protein tissue co-expression partners for GLA Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GLA Gene

Orthologs for GLA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GLA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GLA 35
  • 87.01 (n)
  • 80.87 (a)
GLA 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GLA 35
  • 88.32 (n)
  • 85.28 (a)
GLA 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gla 35
  • 82.3 (n)
  • 78.23 (a)
Gla 16
Gla 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GLA 35
  • 99.53 (n)
  • 98.6 (a)
GLA 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gla 35
  • 83.33 (n)
  • 79.19 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 71 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia GLA 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLA 35
  • 68.31 (n)
  • 69.63 (a)
GLA 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLA 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gla 35
  • 65.22 (n)
  • 66.75 (a)
zebrafish
(Danio rerio)
Actinopterygii gla 35
  • 64.02 (n)
  • 64.76 (a)
gla 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5731 37
  • 47 (a)
CG7997 37
  • 46 (a)
CG7997 35
  • 54.3 (n)
  • 48.12 (a)
CG5731 36
  • 46 (a)
ManyToMany
CG7997 36
  • 46 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005846 35
  • 52.06 (n)
  • 47.94 (a)
worm
(Caenorhabditis elegans)
Secernentea R07B7.11 37
  • 43 (a)
gana-1 36
  • 39 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AGAL2 35
  • 50.99 (n)
  • 46.71 (a)
soybean
(Glycine max)
eudicotyledons Gma.5910 35
rice
(Oryza sativa)
Liliopsida Os.17491 35
Os10g0493600 35
  • 50.11 (n)
  • 45.13 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mel1 35
  • 49.79 (n)
  • 42.09 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToMany
Species with no ortholog for GLA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GLA Gene

ENSEMBL:
Gene Tree for GLA (if available)
TreeFam:
Gene Tree for GLA (if available)

Paralogs for GLA Gene

Paralogs for GLA Gene

(1) SIMAP similar genes for GLA Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with GLA: view

Variants for GLA Gene

Sequence variations from dbSNP and Humsavar for GLA Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_000431 Fabry disease (FD)
VAR_000432 Fabry disease (FD)
VAR_000433 Fabry disease (FD)
VAR_000434 Fabry disease (FD)
VAR_000435 Fabry disease (FD)

Variation tolerance for GLA Gene

Residual Variation Intolerance Score: 83.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.63; 56.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GLA Gene

HapMap Linkage Disequilibrium report
GLA
Human Gene Mutation Database (HGMD)
GLA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GLA Gene

Disorders for GLA Gene

MalaCards: The human disease database

(15) MalaCards diseases for GLA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fabry disease
  • fabry disease, cardiac variant
classic fabry disease
angiokeratoma
  • angiokeratoma of skin
sphingolipidosis
  • sphingolipidoses
keutel syndrome
  • pulmonic stenosis brachytelephalangism and calcification of cartilages
- elite association - COSMIC cancer census association via MalaCards
Search GLA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AGAL_HUMAN
  • Fabry disease (FD) [MIM:301500]: Rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities. {ECO:0000269 PubMed:10090526, ECO:0000269 PubMed:10208848, ECO:0000269 PubMed:10666480, ECO:0000269 PubMed:10916280, ECO:0000269 PubMed:11076046, ECO:0000269 PubMed:11295840, ECO:0000269 PubMed:11668641, ECO:0000269 PubMed:11889412, ECO:0000269 PubMed:12694230, ECO:0000269 PubMed:1315715, ECO:0000269 PubMed:15162124, ECO:0000269 PubMed:15712228, ECO:0000269 PubMed:16533976, ECO:0000269 PubMed:1846223, ECO:0000269 PubMed:19621417, ECO:0000269 PubMed:2152885, ECO:0000269 PubMed:2171331, ECO:0000269 PubMed:2539398, ECO:0000269 PubMed:7504405, ECO:0000269 PubMed:7531540, ECO:0000269 PubMed:7575533, ECO:0000269 PubMed:7596372, ECO:0000269 PubMed:7599642, ECO:0000269 PubMed:7759078, ECO:0000269 PubMed:8069316, ECO:0000269 PubMed:8395937, ECO:0000269 PubMed:8738659, ECO:0000269 PubMed:8807334, ECO:0000269 PubMed:8834244, ECO:0000269 PubMed:8863162, ECO:0000269 PubMed:8875188, ECO:0000269 PubMed:8931708, ECO:0000269 PubMed:9100224, ECO:0000269 PubMed:9105656, ECO:0000269 PubMed:9452068, ECO:0000269 PubMed:9452090, ECO:0000269 PubMed:9452111, ECO:0000269 PubMed:9554750}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for GLA Gene

diffuse angiokeratoderma,Fabry disease,typical and atypical

Relevant External Links for GLA

Genetic Association Database (GAD)
GLA
Human Genome Epidemiology (HuGE) Navigator
GLA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GLA
genes like me logo Genes that share disorders with GLA: view

Publications for GLA Gene

  1. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). (PMID: 19621417) Hwu W.L. … Hsu L.W. (Hum. Mutat. 2009) 3 4 23 48 67
  2. Functional studies of new GLA gene mutations leading to conformational Fabry disease. (PMID: 19941952) Filoni C. … Morrone A. (Biochim. Biophys. Acta 2010) 3 23
  3. Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients. (PMID: 20110537) Baptista M.V. … Ferro J.M. (Stroke 2010) 3 23
  4. Frequency of Fabry disease in male and female haemodialysis patients in Spain. (PMID: 20122163) Gaspar P. … SA!-Miranda M.C. (BMC Med. Genet. 2010) 3 23
  5. Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease. (PMID: 19287194) Park J.Y. … Yoo H.W. (Exp. Mol. Med. 2009) 3 23

Products for GLA Gene

Sources for GLA Gene

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