Human Gene GLA (ENST00000218516.4_9) from GENCODE V47lift37
  Description: galactosidase alpha, transcript variant 1 (from RefSeq NM_000169.3)
Gencode Transcript: ENST00000218516.4_9
Gencode Gene: ENSG00000102393.15_15
Transcript (Including UTRs)
   Position: hg19 chrX:100,652,791-100,662,913 Size: 10,123 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chrX:100,652,797-100,662,891 Size: 10,095 Coding Exon Count: 7 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:100,652,791-100,662,913)mRNA (may differ from genome)Protein (429 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GLA
Diseases sorted by gene-association score: fabry disease* (1764), classic fabry disease (18), cramp-fasciculation syndrome (18), angiokeratoma (15), chromosome 10q26 deletion syndrome (15), sphingolipidosis (14), mucopolysaccharidosis vii (12), skin hemangioma (12), keutel syndrome (10), anhidrosis (7), sweat gland disease (7), necrotizing ulcerative gingivitis (7), lipid storage disease (7), mucopolysaccharidosis is (6), inherited metabolic disorder (6), hypohidrosis (6), integumentary system benign neoplasm (6), lysosomal storage disease (4), cardiomyopathy, familial hypertrophic (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.29 RPKM in Whole Blood
Total median expression: 321.57 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -6.1022-0.277 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013785 - Aldolase_TIM
IPR013780 - Glyco_hydro_13_b
IPR002241 - Glyco_hydro_27
IPR000111 - Glyco_hydro_GHD
IPR017853 - Glycoside_hydrolase_SF

Pfam Domains:
PF02065 - Melibiase
PF16499 - Alpha galactosidase A
PF17450 - Alpha galactosidase A C-terminal beta sandwich domain

SCOP Domains:
51011 - Glycosyl hydrolase domain
51445 - (Trans)glycosidases

ModBase Predicted Comparative 3D Structure on Q53Y83
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004557 alpha-galactosidase activity
GO:0016787 hydrolase activity
GO:0016798 hydrolase activity, acting on glycosyl bonds
GO:0016936 galactoside binding

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0008152 metabolic process

Cellular Component:
GO:0005764 lysosome


-  Descriptions from all associated GenBank mRNAs
  AK222627 - Homo sapiens mRNA for galactosidase, alpha variant, clone: CBL04521.
X05790 - Human mRNA for alpha-galactosidase A (EC 3.2.1-22).
AK291095 - Homo sapiens cDNA FLJ76285 complete cds, highly similar to Homo sapiens galactosidase, alpha (GLA), mRNA.
D00039 - Homo sapiens mRNA for alpha-galactosidase A, partial cds.
HW649496 - JP 2014523411-A/4: LIPID NANOPARTICLE COMPOSITIONS AND METHODS FOR MRNA DELIVERY.
HZ189939 - JP 2015519301-A/4: Ionizable Cationic Lipids.
JB074621 - Sequence 4 from Patent WO2012170930.
JC570530 - Sequence 4 from Patent WO2014089486.
LP056570 - Sequence 4 from Patent EP2830595.
MA155778 - JP 2017014278-A/4: LIPID NANOPARTICLE COMPOSITIONS AND METHODS FOR MRNA DELIVERY.
X16889 - Human alpha-galactosidase A (alpha-GalA) pseudogene mRNA from individual with Fabry disease.
BC002689 - Homo sapiens galactosidase, alpha, mRNA (cDNA clone MGC:4162 IMAGE:3609235), complete cds.
BT006864 - Homo sapiens galactosidase, alpha mRNA, complete cds.
DQ890721 - Synthetic construct clone IMAGE:100003351; FLH165457.01X; RZPDo839C07160D galactosidase, alpha (GLA) gene, encodes complete protein.
DQ893899 - Synthetic construct Homo sapiens clone IMAGE:100008359; FLH165453.01L; RZPDo839C07159D galactosidase, alpha (GLA) gene, encodes complete protein.
LF382223 - JP 2014500723-A/189726: Polycomb-Associated Non-Coding RNAs.
CU678122 - Synthetic construct Homo sapiens gateway clone IMAGE:100019352 5' read GLA mRNA.
AK297148 - Homo sapiens cDNA FLJ56739 complete cds, highly similar to Alpha-galactosidase A precursor (EC 3.2.1.22).
LF382224 - JP 2014500723-A/189727: Polycomb-Associated Non-Coding RNAs.
LF382225 - JP 2014500723-A/189728: Polycomb-Associated Non-Coding RNAs.
LF382231 - JP 2014500723-A/189734: Polycomb-Associated Non-Coding RNAs.
MA617800 - JP 2018138019-A/189726: Polycomb-Associated Non-Coding RNAs.
MA617801 - JP 2018138019-A/189727: Polycomb-Associated Non-Coding RNAs.
MA617802 - JP 2018138019-A/189728: Polycomb-Associated Non-Coding RNAs.
MA617808 - JP 2018138019-A/189734: Polycomb-Associated Non-Coding RNAs.
MA890447 - JP 2017203045-A/4: LIPID NANOPARTICLE COMPOSITIONS AND METHODS FOR MRNA DELIVERY.
MB437426 - JP 2018095653-A/4: Ionizable Cationic Lipids.
MP440717 - Sequence 4 from Patent EP3586861.
MP559898 - Sequence 4 from Patent EP3628335.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000218516.1, ENST00000218516.2, ENST00000218516.3, GLA , hCG_20401 , NM_000169, Q53Y83, Q53Y83_HUMAN, uc317cvs.1, uc317cvs.2
UCSC ID: ENST00000218516.4_9
RefSeq Accession: NM_000169.3
Protein: Q53Y83

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GLA:
fabry (Fabry Disease)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.