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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 61
  • Melibiase 3 4
  • Alpha-D-Galactoside Galactohydrolase 1 3
  • Alpha-D-Galactoside Galactohydrolase 4
  • Alpha-Galactosidase A 3
  • Agalsidase Alfa 3
  • Alpha-Gal A 3
  • Agalsidase 4
  • EC 3.2.1 61
  • 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 Sphingolipidosis. Among its related pathways are Galactose metabolism and Sphingolipid metabolism. 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

Enhancers for GLA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around GLA on UCSC Golden Path with GeneCards custom track

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

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

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:0003824 catalytic activity IDA 39940
GO:0004557 alpha-galactosidase activity IEA,TAS --
GO:0005102 receptor binding IDA 1332979
GO:0005515 protein binding IPI 1332979
GO:0016787 hydrolase activity TAS 7911050
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

  • Taconic Biosciences Mouse Models for GLA

CRISPR Products

Inhibitory RNA Products

Clone 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:0005576 extracellular region IMP 1332979
GO:0005737 cytoplasm IMP 1332979
GO:0005764 lysosome IEA,TAS 3029062
GO:0005794 Golgi apparatus IMP 1332979
GO:0043202 lysosomal lumen TAS --
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

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000218516%0d%0a9606.ENSP00000395473%0d%0a9606.ENSP00000472710%0d%0a9606.ENSP00000285599%0d%0a9606.ENSP00000353655%0d%0a9606.ENSP00000470240%0d%0a
Selected Interacting proteins: ENSP00000218516 P06280-AGAL_HUMAN for GLA Gene via STRING IID

Gene Ontology (GO) - Biological Process for GLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0009311 oligosaccharide metabolic process IDA 39940
GO:0045019 negative regulation of nitric oxide biosynthetic process ISS --
GO:0046477 glycosylceramide catabolic process ISS --
GO:0046479 glycosphingolipid catabolic process TAS 2160973
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aluminum hydroxide Approved Pharma 194
Glycerol Approved, Experimental Pharma 210
Sorbitol Approved Pharma 29
Water Approved Pharma 0
Sucrose Experimental Pharma 0

(89) 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:

CRISPR Products

Inhibitory RNA Products

Clone 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, MaxQB, and MOPED for GLA Gene



Protein tissue co-expression partners for GLA Gene

NURSA nuclear receptor signaling pathways regulating expression of GLA Gene:

GLA

SOURCE GeneReport for Unigene cluster for GLA Gene:

Hs.69089
genes like me logo Genes that share expression patterns with GLA: view

Primer 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 34
  • 87.01 (n)
  • 80.87 (a)
GLA 35
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GLA 34
  • 88.32 (n)
  • 85.28 (a)
GLA 35
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gla 34
  • 82.3 (n)
  • 78.23 (a)
Gla 16
Gla 35
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GLA 34
  • 99.53 (n)
  • 98.6 (a)
GLA 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gla 34
  • 83.33 (n)
  • 79.19 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 71 (a)
OneToMany
-- 35
  • 65 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia GLA 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLA 34
  • 68.31 (n)
  • 69.63 (a)
GLA 35
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLA 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gla 34
  • 65.22 (n)
  • 66.75 (a)
zebrafish
(Danio rerio)
Actinopterygii gla 34
  • 64.02 (n)
  • 64.76 (a)
gla 35
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5731 36
  • 47 (a)
CG7997 36
  • 46 (a)
CG7997 34
  • 54.3 (n)
  • 48.12 (a)
CG5731 35
  • 46 (a)
ManyToMany
CG7997 35
  • 46 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005846 34
  • 52.06 (n)
  • 47.94 (a)
worm
(Caenorhabditis elegans)
Secernentea R07B7.11 36
  • 43 (a)
gana-1 35
  • 39 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AGAL2 34
  • 50.99 (n)
  • 46.71 (a)
soybean
(Glycine max)
eudicotyledons Gma.5910 34
rice
(Oryza sativa)
Liliopsida Os.17491 34
Os10g0493600 34
  • 50.11 (n)
  • 45.13 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mel1 34
  • 49.79 (n)
  • 42.09 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToMany
Species where no ortholog for GLA was found in the sources mined by GeneCards:
  • 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

Human Gene Mutation Database (HGMD)
GLA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

(17) 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
sphingolipidosis
  • sphingolipidoses
classic fabry disease
cramp-fasciculation syndrome
  • foley-denny-brown syndrome
angiokeratoma
  • angiokeratoma of skin
- 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:27211852, 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 22 46 65
  2. 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 22 46 65
  3. Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population. (PMID: 17804462) Terryn W. … De Schoenmakere G. (Nephrol. Dial. Transplant. 2008) 3 22 46 65
  4. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. (PMID: 15712228) Shabbeer J. … Desnick R.J. (Hum. Mutat. 2005) 3 4 22 65
  5. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. (PMID: 15776423) SchAofer E. … Gal A. (Hum. Mutat. 2005) 3 22 46 65

Products for GLA Gene

Sources for GLA Gene

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