Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases Disease
Drug Drug
Main interacting RNAs N.A.
Moonlighting functions Metabolic enzyme
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000102393 Gene ID 2717 Accession 4296
Symbol GLA Alias GALA Full Name galactosidase alpha
Status Confidence Length 10210 bases Strand Minus strand
Position X : 101397803 - 101408012 RNA binding domain N.A.
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]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal
28430823 Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease. Wen-Hsin Chang 2017-01-01 PloS one

Transcripts

Name Transcript ID bp Protein Translation ID
GLA-210 ENST00000674142 1978 No protein -
GLA-203 ENST00000468823 3748 No protein -
GLA-217 ENST00000710365 1743 454aa ENSP00000518234
GLA-207 ENST00000493905 1358 222aa ENSP00000476935
GLA-201 ENST00000218516 1318 429aa ENSP00000218516
GLA-202 ENST00000466414 1431 No protein -
GLA-204 ENST00000479445 1909 No protein -
GLA-208 ENST00000649178 1424 470aa ENSP00000498186
GLA-214 ENST00000675968 4163 No protein -
GLA-212 ENST00000675592 1092 363aa ENSP00000502239
GLA-215 ENST00000676156 1254 417aa ENSP00000501730
GLA-216 ENST00000676372 1356 270aa ENSP00000502805
GLA-209 ENST00000674127 1474 222aa ENSP00000501044
GLA-213 ENST00000675799 1420 199aa ENSP00000502661
GLA-206 ENST00000486121 1300 222aa ENSP00000501124
GLA-205 ENST00000480513 1180 199aa ENSP00000497055
GLA-211 ENST00000674634 1089 362aa ENSP00000502629

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0003824enables catalytic activity1IDAHomo_sapiens(9606)Function
GO:0004557enables alpha-galactosidase activity3IBA,IDA,IMPHomo_sapiens(9606)Function
GO:0005102enables signaling receptor binding1IDAHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005576located_in extracellular region3IDA,IMP,TASHomo_sapiens(9606)Component
GO:0005737is_active_in cytoplasm2IBA,IMPHomo_sapiens(9606)Component
GO:0005764located_in lysosome2IMP,TASHomo_sapiens(9606)Component
GO:0005794located_in Golgi apparatus1IMPHomo_sapiens(9606)Component
GO:0009311involved_in oligosaccharide metabolic process2IBA,IDAHomo_sapiens(9606)Process
GO:0016139involved_in glycoside catabolic process1IBAHomo_sapiens(9606)Process
GO:0016787enables hydrolase activity1TASHomo_sapiens(9606)Function
GO:0016936enables galactoside binding1IEAHomo_sapiens(9606)Function
GO:0017041enables galactosylgalactosylglucosylceramidase activity2IDA,IMPHomo_sapiens(9606)Function
GO:0035578located_in azurophil granule lumen1TASHomo_sapiens(9606)Component
GO:0042803enables protein homodimerization activity1IDAHomo_sapiens(9606)Function
GO:0043202located_in lysosomal lumen1TASHomo_sapiens(9606)Component
GO:0045019involved_in negative regulation of nitric oxide biosynthetic process1ISSHomo_sapiens(9606)Process
GO:0046477involved_in glycosylceramide catabolic process1ISSHomo_sapiens(9606)Process
GO:0046479involved_in glycosphingolipid catabolic process3IDA,IMP,TASHomo_sapiens(9606)Process
GO:0051001involved_in negative regulation of nitric-oxide synthase activity1ISSHomo_sapiens(9606)Process
GO:0070062located_in extracellular exosome1HDAHomo_sapiens(9606)Component

Expression