Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2720
Gene name Gene Name - the full gene name approved by the HGNC.	Galactosidase beta 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GLB1
Synonyms (NCBI Gene) Gene synonyms aliases	EBP, ELNR1, MPS4B
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p22.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzy

Show/Hide all(79)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1803200	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs28934274	C>T	Pathogenic, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs72555358	G>A	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72555360	G>A	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs72555361	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs72555362	C>A	Pathogenic	Coding sequence variant, missense variant
rs72555363	C>A	Pathogenic	Coding sequence variant, missense variant
rs72555364	A>C,G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs72555366	G>A	Pathogenic	Intron variant, coding sequence variant, missense variant
rs72555368	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs72555370	G>A	Pathogenic	Coding sequence variant, missense variant
rs72555371	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72555372	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs72555373	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs72555390	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72555392	C>T	Pathogenic	Coding sequence variant, missense variant
rs72555393	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs189115557	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs192732174	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs371397760	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs371546950	T>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs371582179	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs376663785	A>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs376710410	A>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, synonymous variant
rs397515616	A>G	Likely-pathogenic, not-provided	Missense variant, coding sequence variant, intron variant
rs397515617	A>G	Likely-pathogenic, not-provided	Missense variant, coding sequence variant, synonymous variant
rs398123347	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs398123350	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs398123351	C>T	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs398123353	C>T	Likely-pathogenic, pathogenic	Splice acceptor variant, intron variant
rs398123354	A>G	Pathogenic	Splice donor variant, intron variant
rs398123355	A>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs572237881	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs587776524	->CCAGGGCTCATGAAAGTTCCAGG	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587776526	T>C	Pathogenic	Splice acceptor variant
rs587779404	A>G	Pathogenic	Missense variant, coding sequence variant
rs727503954	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs745386663	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs745864233	C>T	Pathogenic, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs746766232	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs748830051	C>T	Pathogenic, likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs749980306	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs750531880	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs754131566	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs756878418	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs767704163	TA>-	Pathogenic	Coding sequence variant, stop gained
rs776327443	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs778375259	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs778423653	C>G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs778700089	G>A	Pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs794727165	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs794727249	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs794729217	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs886042079	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1041204916	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1057517738	A>G	Pathogenic	Intron variant, splice donor variant
rs1057524868	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794737	AGGCAATGAACACTCACAAGTTCACACTCG>GGCAAGTATATACTTGCCT	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1282958432	GATTCTTACCAAGGGTCCTTTGGGCTCACACTTCCTC>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1553606091	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553606128	->CT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553606130	AGAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553610382	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553610553	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1553611016	AAC>-	Likely-pathogenic	Splice donor variant, intron variant
rs1553611025	->C	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553611040	ACCA>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553611044	T>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553611778	A>G	Likely-pathogenic	Splice donor variant
rs1553611789	G>A	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1553612143	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1553612145	ATAGA>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553612150	TT>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553612213	T>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1559401428	CA>AG	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1575451526	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1575459735	C>G	Pathogenic	Splice acceptor variant, intron variant
rs1575471281	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1575475703	T>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(205)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020509	hsa-miR-155-5p	Proteomics	18668040
MIRT032234	hsa-let-7b-5p	Proteomics	18668040
MIRT1020321	hsa-let-7a	CLIP-seq
MIRT1020322	hsa-let-7b	CLIP-seq
MIRT1020323	hsa-let-7c	CLIP-seq
MIRT1020324	hsa-let-7d	CLIP-seq
MIRT1020325	hsa-let-7e	CLIP-seq
MIRT1020326	hsa-let-7f	CLIP-seq
MIRT1020327	hsa-let-7g	CLIP-seq
MIRT1020328	hsa-let-7i	CLIP-seq
MIRT1020329	hsa-miR-1294	CLIP-seq
MIRT1020330	hsa-miR-1297	CLIP-seq
MIRT1020331	hsa-miR-1321	CLIP-seq
MIRT1020332	hsa-miR-202	CLIP-seq
MIRT1020333	hsa-miR-203	CLIP-seq
MIRT1020334	hsa-miR-224	CLIP-seq
MIRT1020335	hsa-miR-26a	CLIP-seq
MIRT1020336	hsa-miR-26b	CLIP-seq
MIRT1020337	hsa-miR-3545-3p	CLIP-seq
MIRT1020338	hsa-miR-3606	CLIP-seq
MIRT1020339	hsa-miR-3616-5p	CLIP-seq
MIRT1020340	hsa-miR-3622b-5p	CLIP-seq
MIRT1020341	hsa-miR-3647-3p	CLIP-seq
MIRT1020342	hsa-miR-3647-5p	CLIP-seq
MIRT1020343	hsa-miR-3688-5p	CLIP-seq
MIRT1020344	hsa-miR-3692	CLIP-seq
MIRT1020345	hsa-miR-4270	CLIP-seq
MIRT1020346	hsa-miR-4276	CLIP-seq
MIRT1020347	hsa-miR-4316	CLIP-seq
MIRT1020348	hsa-miR-4441	CLIP-seq
MIRT1020349	hsa-miR-4458	CLIP-seq
MIRT1020350	hsa-miR-4465	CLIP-seq
MIRT1020351	hsa-miR-4500	CLIP-seq
MIRT1020352	hsa-miR-4677-3p	CLIP-seq
MIRT1020353	hsa-miR-4679	CLIP-seq
MIRT1020354	hsa-miR-4739	CLIP-seq
MIRT1020355	hsa-miR-4756-5p	CLIP-seq
MIRT1020356	hsa-miR-4795-5p	CLIP-seq
MIRT1020357	hsa-miR-495	CLIP-seq
MIRT1020358	hsa-miR-501-5p	CLIP-seq
MIRT1020359	hsa-miR-548ag	CLIP-seq
MIRT1020360	hsa-miR-548ai	CLIP-seq
MIRT1020361	hsa-miR-548m	CLIP-seq
MIRT1020362	hsa-miR-567	CLIP-seq
MIRT1020363	hsa-miR-573	CLIP-seq
MIRT1020364	hsa-miR-587	CLIP-seq
MIRT1020365	hsa-miR-921	CLIP-seq
MIRT1020366	hsa-miR-98	CLIP-seq
MIRT1020321	hsa-let-7a	CLIP-seq
MIRT1020322	hsa-let-7b	CLIP-seq
MIRT1020323	hsa-let-7c	CLIP-seq
MIRT1020324	hsa-let-7d	CLIP-seq
MIRT1020325	hsa-let-7e	CLIP-seq
MIRT1020326	hsa-let-7f	CLIP-seq
MIRT1020327	hsa-let-7g	CLIP-seq
MIRT1020328	hsa-let-7i	CLIP-seq
MIRT1020329	hsa-miR-1294	CLIP-seq
MIRT1020332	hsa-miR-202	CLIP-seq
MIRT1549249	hsa-miR-3127-5p	CLIP-seq
MIRT1549250	hsa-miR-3132	CLIP-seq
MIRT1020347	hsa-miR-4316	CLIP-seq
MIRT1020349	hsa-miR-4458	CLIP-seq
MIRT1020351	hsa-miR-4500	CLIP-seq
MIRT1549251	hsa-miR-4650-3p	CLIP-seq
MIRT1020352	hsa-miR-4677-3p	CLIP-seq
MIRT1020353	hsa-miR-4679	CLIP-seq
MIRT1020362	hsa-miR-567	CLIP-seq
MIRT1020366	hsa-miR-98	CLIP-seq
MIRT1020321	hsa-let-7a	CLIP-seq
MIRT1020322	hsa-let-7b	CLIP-seq
MIRT1020323	hsa-let-7c	CLIP-seq
MIRT1020324	hsa-let-7d	CLIP-seq
MIRT1020325	hsa-let-7e	CLIP-seq
MIRT1020326	hsa-let-7f	CLIP-seq
MIRT1020327	hsa-let-7g	CLIP-seq
MIRT1020328	hsa-let-7i	CLIP-seq
MIRT1020329	hsa-miR-1294	CLIP-seq
MIRT1020332	hsa-miR-202	CLIP-seq
MIRT1020334	hsa-miR-224	CLIP-seq
MIRT1549249	hsa-miR-3127-5p	CLIP-seq
MIRT1549250	hsa-miR-3132	CLIP-seq
MIRT2002157	hsa-miR-320a	CLIP-seq
MIRT2002158	hsa-miR-320b	CLIP-seq
MIRT2002159	hsa-miR-320c	CLIP-seq
MIRT2002160	hsa-miR-320d	CLIP-seq
MIRT1020347	hsa-miR-4316	CLIP-seq
MIRT2002161	hsa-miR-4429	CLIP-seq
MIRT2002162	hsa-miR-4438	CLIP-seq
MIRT1020349	hsa-miR-4458	CLIP-seq
MIRT1020351	hsa-miR-4500	CLIP-seq
MIRT1549251	hsa-miR-4650-3p	CLIP-seq
MIRT1020352	hsa-miR-4677-3p	CLIP-seq
MIRT1020353	hsa-miR-4679	CLIP-seq
MIRT1020362	hsa-miR-567	CLIP-seq
MIRT1020366	hsa-miR-98	CLIP-seq
MIRT1020321	hsa-let-7a	CLIP-seq
MIRT1020322	hsa-let-7b	CLIP-seq
MIRT1020323	hsa-let-7c	CLIP-seq
MIRT1020324	hsa-let-7d	CLIP-seq
MIRT1020325	hsa-let-7e	CLIP-seq
MIRT1020326	hsa-let-7f	CLIP-seq
MIRT1020327	hsa-let-7g	CLIP-seq
MIRT1020328	hsa-let-7i	CLIP-seq
MIRT2538940	hsa-miR-1205	CLIP-seq
MIRT2538941	hsa-miR-125a-3p	CLIP-seq
MIRT2538942	hsa-miR-125a-5p	CLIP-seq
MIRT2538943	hsa-miR-125b	CLIP-seq
MIRT2538944	hsa-miR-1271	CLIP-seq
MIRT1020329	hsa-miR-1294	CLIP-seq
MIRT1020331	hsa-miR-1321	CLIP-seq
MIRT2538945	hsa-miR-182	CLIP-seq
MIRT2538946	hsa-miR-1909	CLIP-seq
MIRT1020332	hsa-miR-202	CLIP-seq
MIRT1020333	hsa-miR-203	CLIP-seq
MIRT1549249	hsa-miR-3127-5p	CLIP-seq
MIRT1549250	hsa-miR-3132	CLIP-seq
MIRT2538947	hsa-miR-3151	CLIP-seq
MIRT2538948	hsa-miR-323-5p	CLIP-seq
MIRT1020340	hsa-miR-3622b-5p	CLIP-seq
MIRT1020341	hsa-miR-3647-3p	CLIP-seq
MIRT1020343	hsa-miR-3688-5p	CLIP-seq
MIRT1020344	hsa-miR-3692	CLIP-seq
MIRT2538949	hsa-miR-377	CLIP-seq
MIRT2538950	hsa-miR-3934	CLIP-seq
MIRT1020345	hsa-miR-4270	CLIP-seq
MIRT1020346	hsa-miR-4276	CLIP-seq
MIRT2538951	hsa-miR-4281	CLIP-seq
MIRT2538952	hsa-miR-4283	CLIP-seq
MIRT1020347	hsa-miR-4316	CLIP-seq
MIRT2538953	hsa-miR-4319	CLIP-seq
MIRT2538954	hsa-miR-4418	CLIP-seq
MIRT1020348	hsa-miR-4441	CLIP-seq
MIRT1020349	hsa-miR-4458	CLIP-seq
MIRT2538955	hsa-miR-4489	CLIP-seq
MIRT1020351	hsa-miR-4500	CLIP-seq
MIRT1549251	hsa-miR-4650-3p	CLIP-seq
MIRT1020352	hsa-miR-4677-3p	CLIP-seq
MIRT1020353	hsa-miR-4679	CLIP-seq
MIRT2538956	hsa-miR-4732-3p	CLIP-seq
MIRT1020354	hsa-miR-4739	CLIP-seq
MIRT1020355	hsa-miR-4756-5p	CLIP-seq
MIRT2538957	hsa-miR-493	CLIP-seq
MIRT2538958	hsa-miR-509-3-5p	CLIP-seq
MIRT2538959	hsa-miR-509-5p	CLIP-seq
MIRT1020362	hsa-miR-567	CLIP-seq
MIRT1020364	hsa-miR-587	CLIP-seq
MIRT2538960	hsa-miR-670	CLIP-seq
MIRT2538961	hsa-miR-764	CLIP-seq
MIRT2538962	hsa-miR-96	CLIP-seq
MIRT1020366	hsa-miR-98	CLIP-seq
MIRT1020321	hsa-let-7a	CLIP-seq
MIRT1020322	hsa-let-7b	CLIP-seq
MIRT1020323	hsa-let-7c	CLIP-seq
MIRT1020324	hsa-let-7d	CLIP-seq
MIRT1020325	hsa-let-7e	CLIP-seq
MIRT1020326	hsa-let-7f	CLIP-seq
MIRT1020327	hsa-let-7g	CLIP-seq
MIRT1020328	hsa-let-7i	CLIP-seq
MIRT2538940	hsa-miR-1205	CLIP-seq
MIRT2538941	hsa-miR-125a-3p	CLIP-seq
MIRT2538942	hsa-miR-125a-5p	CLIP-seq
MIRT2538943	hsa-miR-125b	CLIP-seq
MIRT2538944	hsa-miR-1271	CLIP-seq
MIRT1020329	hsa-miR-1294	CLIP-seq
MIRT1020331	hsa-miR-1321	CLIP-seq
MIRT2538945	hsa-miR-182	CLIP-seq
MIRT2538946	hsa-miR-1909	CLIP-seq
MIRT1020332	hsa-miR-202	CLIP-seq
MIRT1020333	hsa-miR-203	CLIP-seq
MIRT1549249	hsa-miR-3127-5p	CLIP-seq
MIRT1549250	hsa-miR-3132	CLIP-seq
MIRT2538947	hsa-miR-3151	CLIP-seq
MIRT2538948	hsa-miR-323-5p	CLIP-seq
MIRT1020340	hsa-miR-3622b-5p	CLIP-seq
MIRT1020341	hsa-miR-3647-3p	CLIP-seq
MIRT1020343	hsa-miR-3688-5p	CLIP-seq
MIRT1020344	hsa-miR-3692	CLIP-seq
MIRT2538949	hsa-miR-377	CLIP-seq
MIRT2538950	hsa-miR-3934	CLIP-seq
MIRT1020345	hsa-miR-4270	CLIP-seq
MIRT1020346	hsa-miR-4276	CLIP-seq
MIRT2538951	hsa-miR-4281	CLIP-seq
MIRT2538952	hsa-miR-4283	CLIP-seq
MIRT1020347	hsa-miR-4316	CLIP-seq
MIRT2538953	hsa-miR-4319	CLIP-seq
MIRT2538954	hsa-miR-4418	CLIP-seq
MIRT1020348	hsa-miR-4441	CLIP-seq
MIRT1020349	hsa-miR-4458	CLIP-seq
MIRT2538955	hsa-miR-4489	CLIP-seq
MIRT1020351	hsa-miR-4500	CLIP-seq
MIRT1549251	hsa-miR-4650-3p	CLIP-seq
MIRT1020352	hsa-miR-4677-3p	CLIP-seq
MIRT1020353	hsa-miR-4679	CLIP-seq
MIRT2538956	hsa-miR-4732-3p	CLIP-seq
MIRT1020354	hsa-miR-4739	CLIP-seq
MIRT1020355	hsa-miR-4756-5p	CLIP-seq
MIRT2538957	hsa-miR-493	CLIP-seq
MIRT2538958	hsa-miR-509-3-5p	CLIP-seq
MIRT2538959	hsa-miR-509-5p	CLIP-seq
MIRT1020362	hsa-miR-567	CLIP-seq
MIRT1020364	hsa-miR-587	CLIP-seq
MIRT2538960	hsa-miR-670	CLIP-seq
MIRT2538961	hsa-miR-764	CLIP-seq
MIRT2538962	hsa-miR-96	CLIP-seq
MIRT1020366	hsa-miR-98	CLIP-seq

Show/Hide all(41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0004565	Function	Beta-galactosidase activity	IBA
GO:0004565	Function	Beta-galactosidase activity	IDA	11927518, 24737316
GO:0004565	Function	Beta-galactosidase activity	IEA
GO:0004565	Function	Beta-galactosidase activity	IMP	8112731, 25936995
GO:0004565	Function	Beta-galactosidase activity	TAS	3143362
GO:0005515	Function	Protein binding	IPI	15498789, 22128166, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IDA	11927518
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	IMP	8112731
GO:0005773	Component	Vacuole	IBA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005975	Process	Carbohydrate metabolic process	IDA	11927518
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006516	Process	Glycoprotein catabolic process	IEA
GO:0006516	Process	Glycoprotein catabolic process	IMP	31720227
GO:0006689	Process	Ganglioside catabolic process	IEA
GO:0006689	Process	Ganglioside catabolic process	IMP	31720227
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0016936	Function	Galactoside binding	IEA
GO:0019388	Process	Galactose catabolic process	IBA
GO:0019388	Process	Galactose catabolic process	IEA
GO:0030200	Process	Heparan sulfate proteoglycan catabolic process	TAS
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042340	Process	Keratan sulfate proteoglycan catabolic process	IEA
GO:0042340	Process	Keratan sulfate proteoglycan catabolic process	IMP	31720227
GO:0042340	Process	Keratan sulfate proteoglycan catabolic process	TAS
GO:0042803	Function	Protein homodimerization activity	IPI	22128166
GO:0043202	Component	Lysosomal lumen	TAS
GO:0046479	Process	Glycosphingolipid catabolic process	TAS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051413	Process	Response to cortisone	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1904016	Process	Response to Thyroglobulin triiodothyronine	IEA
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

MIM	HGNC	e!Ensembl
611458	4298	ENSG00000170266

Protein

UniProt ID

P16278

Protein name

Beta-galactosidase (EC 3.2.1.23) (Acid beta-galactosidase) (Lactase) (Elastin receptor 1)

Protein function

[Isoform 1]: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. {ECO:0000269|PubMed:15714521, ECO:0000269|PubMed:19472408, ECO:0000269|PubMed:2511208, ECO:0000269|PubMed:25936995, ECO:00002

PDB

3THC , 3THD , 3WEZ , 3WF0 , 3WF1 , 3WF2 , 3WF3 , 3WF4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01301	Glyco_hydro_35	40 → 357	Glycosyl hydrolases family 35	Domain
PF13364	BetaGal_dom4_5	528 → 622	Beta-galactosidase jelly roll domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in placenta (at protein level) (PubMed:8383699). Detected in fibroblasts and testis (PubMed:2511208). {ECO:0000269|PubMed:2511208, ECO:0000269|PubMed:8383699}.

Sequence

MPGFLVRILPLLLVLLLLGPTRGLRNATQRMFEIDYSRDSFLKDGQPFRYISGSIHYSRV
PRFYWKDRLLKMKMAGLNAIQTYVPWNFHEPWPGQYQFSEDHDVEYFLRLAHELGLLVIL
RPGPYICAEWEMGGLPAWLLEKESILLRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPV
ITVQVENEYGSYFACDFDYLRFLQKRFRHHLGDDVVLFTTDGAHKTFLKCGALQGLYTTV
DFGTGSNITDAFLSQRKCEPKGPLINSEFYTGWLDHWGQPHSTIKTEAVASSLYDILARG
ASVNLYMFIGGTNFAYWNGANSPYAAQPTSYDYDAPLSEAGDLTEKYFALRNIIQKFEKV
PEGPIPPSTPKFAYGKVTLEKLKTVGAALDILCPSGPIKSLYPLTFIQVKQHYGFVLYRT
TLPQDCSNPAPLSSPLNGVHDRAYVAVDGIPQGVLERNNVITLNITGKAGATLDLLVENM
GRVNYGAYINDFKGLVSNLTLSSNILTDWTIFPLDTEDAVRSHLGGWGHRDSGHHDEAWA
HNSSNYTLPAFYMGNFSIPSGIPDLPQDTFIQFPGWTKGQVWINGFNLGRYWPARGPQLT
LFVPQHILMTSAPNTITVLELEWAPCSSDDPELCAVTFVDRPVIGSSVTYDHPSKPVEKR
LMPPPPQKNKDSWLDHV

Sequence length

677

Interactions

View interactions

	KEGG		Reactome
	Galactose metabolism Other glycan degradation Glycosaminoglycan degradation Sphingolipid metabolism Glycosphingolipid biosynthesis - ganglio series Metabolic pathways Lysosome		Glycosphingolipid metabolism Keratan sulfate degradation HS-GAG degradation MPS IV - Morquio syndrome B Sialic acid metabolism Defective NEU1 causes sialidosis Neutrophil degranulation

Show/Hide Causal Diseases (6)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Gangliosidosis	gm1 gangliosidosis type 2, Infantile GM1 gangliosidosis	rs794729217, rs587776526, rs776327443, rs72555393, rs1559401428, rs1575471281, rs72555360, rs756878418, rs72555392, rs397515616, rs587779403, rs1553610382, rs72555362, rs587776525, rs1575451526 View all (27 more)	N/A
gm1 gangliosidosis	GM1 gangliosidosis	rs757926581, rs72555366, rs192732174, rs794729217, rs749980306, rs794727165, rs572237881, rs397515616, rs1553610382, rs189115557, rs368568171, rs756878418, rs371582179, rs398123350, rs72555392 View all (12 more)	N/A
GM1 Gangliosidosis	Infantile GM1 gangliosidosis, GM1-gangliosidosis, type I, with cardiac involvement	rs72555393, rs1559401428, rs1575471281, rs72555360, rs72555392, rs72555373, rs587779403, rs72555362, rs587776525, rs1575451526, rs748830051, rs757926581, rs1575414831, rs72555390, rs756878418 View all (24 more)	N/A
Mucopolysaccharidosis	Mucopolysaccharidosis, MPS-IV-B	rs1553607014, rs794727165, rs72555362, rs757926581, rs72555367, rs587776525, rs72555372, rs72555390, rs192732174, rs189115557, rs72555392, rs745386663, rs727503952, rs778700089, rs72555391 View all (13 more)	N/A
Spastic Ataxia	spastic ataxia	rs72555372	N/A
Spondyloepiphyseal dysplasia	spondyloepiphyseal dysplasia	rs72555367	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Asthma	Asthma (childhood onset), Atopic asthma, Asthma (adult onset), Pediatric asthma, Age of onset of adult onset asthma, Age of onset of childhood onset asthma, Asthma in any disease, Asthma	N/A	N/A	GWAS
Celiac disease	Celiac disease	N/A	N/A	GWAS
Dermatitis	Atopic dermatitis	N/A	N/A	GWAS
Eczema	Eczema	N/A	N/A	GWAS
Ependymoma	ependymoma	N/A	N/A	ClinVar
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Multiple Sclerosis	Multiple sclerosis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (82)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	38608841
Alopecia	Associate	36234980
Anemia Aplastic	Associate	39596362
Astrocytoma	Stimulate	21636552
Ataxia	Associate	28716012, 36233161
Atherosclerosis	Associate	15711569
Basal Cell Nevus Syndrome	Stimulate	26694869
Breast Neoplasms	Associate	15015588, 22684298, 37172139
Burnett Schwartz Berberian syndrome	Associate	27007831
Calcinosis Cutis	Stimulate	25876105
Carcinoma Hepatocellular	Associate	27489354, 31517418, 36936948
Cataract	Associate	26619319
Cholangitis Sclerosing	Associate	25046437
Cognition Disorders	Associate	23046582
Colonic Neoplasms	Associate	21357624
Colorectal Neoplasms	Associate	38608841
Cystic Fibrosis	Associate	9989241
Deafness Autosomal Recessive 12	Associate	37643494
Demyelinating Diseases	Associate	29451896
Dermatitis Atopic	Associate	27007831
Disease	Associate	16982334
DK Phocomelia Syndrome	Stimulate	36330072
Drug Hypersensitivity	Associate	25633562
Dystonia	Associate	28716012, 31731261
Fabry Disease	Associate	19621417, 404411
Fatty Liver	Stimulate	36072934
Fibrocartilaginous embolism	Associate	32196619
Gangliosidoses	Associate	5551302
Gangliosidosis Generalized GM1 Late Infantile Type	Associate	30187681
Gangliosidosis GM1	Associate	16626397, 18392450, 1907800, 1909089, 21497194, 22675082, 23046582, 24737316, 25691190, 26766614, 27679996, 28716012, 29396849, 30187681, 3084469 View all (10 more)
Gastroesophageal Reflux	Associate	24481601
Genetic Diseases Inborn	Associate	1694176
Hepatitis B	Associate	27489354
Hydrops Fetalis	Associate	35397126
Hypercalcemia	Inhibit	26615135
Hyperoxia	Associate	30508396
Idiopathic Pulmonary Fibrosis	Stimulate	28860144
Infections	Associate	22590544, 9188579
Inflammation	Stimulate	38203178
Iron Deficiencies	Associate	36233161
Lactose Intolerance	Associate	24967391
Leukemia	Associate	16020509
Leukemia Lymphoma Adult T Cell	Associate	2991573
Leukodystrophy Globoid Cell	Associate	4522795, 85413
Lymphangioleiomyomatosis	Associate	35806041
Lymphoma	Associate	2991573
Lysosomal Storage Diseases	Associate	26766614, 29396849, 39213692
Melanoma	Associate	15009703, 26615135, 32939325
Meningioma	Associate	26943583
Mesothelioma	Associate	12659954
Microcephaly with Mental Retardation and Digital Anomalies	Associate	32209057
Mucocutaneous Lymph Node Syndrome	Associate	17456996
Mucolipidoses	Associate	16538002
Mucopolysaccharidosis IV	Associate	16538002, 1928092, 21497194, 24737316, 26766614, 29396849, 30187681, 37762422, 6420416
Mucopolysaccharidosis VI	Associate	30335002
Multiple Myeloma	Associate	23555770
Multiple Organ Failure	Associate	39213692
Neoplasms	Associate	12839581, 15880094, 25876105, 27489354
Neoplasms	Stimulate	22908062
Neuraminidase deficiency with beta galactosidase deficiency	Associate	16538002, 1694176, 6415049, 8514852
Neurodegenerative Diseases	Associate	22807628
Nijmegen Breakage Syndrome	Associate	25214013
Oncogene Addiction	Associate	22908062
Optic Atrophy	Associate	25691190
Pantothenate Kinase Associated Neurodegeneration	Associate	36233161
Papillomavirus Infections	Associate	2166821
Pericarditis	Associate	28456362
Polycystic Kidney Autosomal Dominant	Associate	9066978
Progeroid syndrome neonatal	Associate	25214013
Prostatic Hyperplasia	Associate	10869659
Prostatic Intraepithelial Neoplasia	Stimulate	25876105
Prostatic Neoplasms	Associate	21677876, 25876105
Pulmonary Disease Chronic Obstructive	Stimulate	30154415
Pyruvate Carboxylase Deficiency Disease	Associate	28234906
Rectal Neoplasms	Associate	37895091
Spastic Paraplegia Hereditary	Associate	27679996
Sphingolipidoses	Associate	36313783
Stomach Neoplasms	Associate	34667277, 35535229
Substance Related Disorders	Associate	28716012
Tuberous Sclerosis 1	Associate	35806041
Voice Disorders	Associate	28716012
Xeroderma Pigmentosum Type G Cockayne Syndrome	Associate	8710877

GLB1 (galactosidase beta 1)