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GLA galactosidase, alpha [ Homo sapiens (human) ]

Gene ID: 2717, updated on 6-Jul-2014
Official Symbol
GLAprovided by HGNC
Official Full Name
galactosidase, alphaprovided by HGNC
Primary source
HGNC:4296
See related
Ensembl:ENSG00000102393; HPRD:02357; MIM:300644; Vega:OTTHUMG00000022026
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GALA
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]
Location:
Xq22
Exon count :
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (101397791..101408013, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (100652779..100663001, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Bruton agammaglobulinemia tyrosine kinase Neighboring gene RPL36A-HNRNPH2 readthrough Neighboring gene ribosomal protein L36a Neighboring gene heterogeneous nuclear ribonucleoprotein H2 (H') Neighboring gene armadillo repeat containing, X-linked 4 Neighboring gene protein kinase C, iota pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in GLA that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Fabry's disease
MedGen: C0002986 OMIM: 301500 GeneReviews: Fabry Disease
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-05-17)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-17)

ISCA Genome Curation Page
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-galactosidase activity IDA
Inferred from Direct Assay
more info
PubMed 
alpha-galactosidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
alpha-galactosidase activity TAS
Traceable Author Statement
more info
 
catalytic activity IDA
Inferred from Direct Assay
more info
PubMed 
galactoside binding IEA
Inferred from Electronic Annotation
more info
 
hydrolase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
raffinose alpha-galactosidase activity IEA
Inferred from Electronic Annotation
more info
 
receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
glycoside catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
glycosphingolipid catabolic process TAS
Traceable Author Statement
more info
PubMed 
glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
 
glycosylceramide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
glycosylceramide catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of nitric oxide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of nitric-oxide synthase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
oligosaccharide metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
sphingolipid metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region IMP
Inferred from Mutant Phenotype
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
lysosome TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
alpha-galactosidase A
Names
alpha-galactosidase A
melibiase
alpha-gal A
agalsidase alfa
alpha-D-galactosidase A
alpha-D-galactoside galactohydrolase 1
NP_000160.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007119.1 

    Range
    4951..15173
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_672

mRNA and Protein(s)

  1. NM_000169.2NP_000160.1  alpha-galactosidase A precursor

    See proteins identical to NP_000160.1

    Status: REVIEWED

    Source sequence(s)
    AL035422, BC002689, DB370480
    Consensus CDS
    CCDS14484.1
    UniProtKB/Swiss-Prot
    P06280
    UniProtKB/TrEMBL
    Q53Y83
    Related
    ENSP00000218516, OTTHUMP00000023679, ENST00000218516, OTTHUMT00000057540
    Conserved Domains (1) summary
    cl17638
    Location:32356
    Blast Score: 759
    PLN02808; alpha-galactosidase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    101397791..101408013
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    90459075..90468889
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    100546260..100556479
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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