GLB1L

Summary

GLB1L (galactosidase beta 1 like, HGNC:28129) is a protein-coding gene on chromosome 2q35, encoding Beta-galactosidase-1-like protein (Q6UWU2). Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans.

Predicted to enable beta-galactosidase activity. Predicted to be involved in galactose catabolic process. Predicted to be located in extracellular region. Predicted to be active in vacuole.

Source: NCBI Gene 79411 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 104 total
• MANE Select transcript: NM_001286423

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28129
Approved symbol	GLB1L
Name	galactosidase beta 1 like
Location	2q35
Locus type	gene with protein product
Status	Approved
Aliases	MGC10771
Ensembl gene	ENSG00000163521
Ensembl biotype	protein_coding
Entrez	79411

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 12 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000295759, ENST00000392089, ENST00000409640, ENST00000424620, ENST00000428427, ENST00000432839, ENST00000440853, ENST00000447002, ENST00000459951, ENST00000467548, ENST00000471516, ENST00000497855, ENST00000866201, ENST00000919628, ENST00000963092, ENST00000963095, ENST00000963097

RefSeq mRNA: 3 — MANE Select: NM_001286423 NM_001286423, NM_001286427, NM_024506

CCDS: CCDS2437, CCDS74657

Canonical transcript exons

ENST00000295759 — 17 exons

Exon	Start	End
ENSE00001366003	219239920	219240094
ENSE00001416383	219236598	219237347
ENSE00001432255	219243502	219243643
ENSE00001716723	219243148	219243314
ENSE00001793282	219245229	219245444
ENSE00003469746	219240191	219240285
ENSE00003474917	219239561	219239682
ENSE00003512344	219242768	219242918
ENSE00003548547	219238705	219238779
ENSE00003584405	219238250	219238363
ENSE00003585633	219238495	219238584
ENSE00003611314	219237512	219237727
ENSE00003639129	219239775	219239833
ENSE00003656371	219239092	219239210
ENSE00003661631	219239411	219239451
ENSE00003684711	219242514	219242574
ENSE00003686454	219237826	219237957

Expression profiles

Bgee: expression breadth ubiquitous, 226 present calls, max score 95.56.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.6784 / max 150.2113, expressed in 1574 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
34045	2.4445	701
34047	2.0478	1229
34044	0.1412	70
34048	0.0393	9
34046	0.0057	2

Top tissues by expression

274 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	95.56	gold quality
right testis	UBERON:0004534	95.08	gold quality
right uterine tube	UBERON:0001302	94.04	gold quality
testis	UBERON:0000473	93.06	gold quality
oocyte	CL:0000023	91.75	gold quality
secondary oocyte	CL:0000655	90.91	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.95	gold quality
epithelium of bronchus	UBERON:0002031	87.16	gold quality
bronchial epithelial cell	CL:0002328	86.92	gold quality
bronchus	UBERON:0002185	86.62	gold quality
adult organism	UBERON:0007023	85.02	gold quality
gall bladder	UBERON:0002110	84.92	gold quality
stromal cell of endometrium	CL:0002255	84.89	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.04	gold quality
metanephros cortex	UBERON:0010533	83.04	gold quality
male germ cell	CL:0000015	82.55	gold quality
sperm	CL:0000019	82.44	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.33	gold quality
adenohypophysis	UBERON:0002196	82.05	gold quality
right adrenal gland	UBERON:0001233	81.69	gold quality
pituitary gland	UBERON:0000007	81.67	gold quality
right adrenal gland cortex	UBERON:0035827	81.37	gold quality
left ovary	UBERON:0002119	81.26	gold quality
adult mammalian kidney	UBERON:0000082	81.12	gold quality
right ovary	UBERON:0002118	81.07	gold quality
left adrenal gland	UBERON:0001234	80.59	gold quality
left adrenal gland cortex	UBERON:0035825	80.36	gold quality
right lobe of thyroid gland	UBERON:0001119	80.23	gold quality
ventricular zone	UBERON:0003053	79.99	gold quality
omental fat pad	UBERON:0010414	79.92	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.06

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting GLB1L, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-6128	99.33	67.83	1581
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-3191-5P	99.24	66.52	1722
HSA-MIR-593-3P	99.22	67.28	1327
HSA-MIR-6809-5P	99.13	68.45	1223
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-4755-3P	98.77	65.59	1915
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-518C-5P	98.53	69.20	1640
HSA-MIR-5089-5P	98.45	66.06	1388
HSA-MIR-1304-3P	98.29	66.44	1207
HSA-MIR-7108-5P	96.42	66.17	598
HSA-MIR-4435	95.90	65.47	1201
HSA-MIR-12115	94.19	66.37	738

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	glb1l	ENSDARG00000029955
mus_musculus	Glb1l	ENSMUSG00000026200
rattus_norvegicus	Glb1l	ENSRNOG00000019243
drosophila_melanogaster	Gal	FBGN0001089
drosophila_melanogaster	Ect3	FBGN0260746
caenorhabditis_elegans		WBGENE00011832
caenorhabditis_elegans		WBGENE00019225

Paralogs (3): GLB1L2 (ENSG00000149328), GLB1L3 (ENSG00000166105), GLB1 (ENSG00000170266)

Protein

Protein identifiers

Beta-galactosidase-1-like protein — Q6UWU2 (reviewed: Q6UWU2)

All UniProt accessions (7): A0A140VJK0, A0A1D5RMN7, C9J1Y9, C9JE41, Q6UWU2, F8WCT5, H7BZ46

UniProt curated annotations — full annotation on UniProt →

Function. Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans.

Similarity. Belongs to the glycosyl hydrolase 35 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6UWU2-1	1	yes
Q6UWU2-2	2

RefSeq proteins (3): NP_001273352, NP_001273356, NP_078782 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001944	Glycoside_Hdrlase_35	Family
IPR008979	Galactose-bd-like_sf	Homologous_superfamily
IPR017853	GH_hydrolase_sf	Homologous_superfamily
IPR026283	B-gal_1-like	Family
IPR031330	Gly_Hdrlase_35_cat	Domain
IPR048912	BetaGal1-like_ABD1	Domain
IPR048913	BetaGal_gal-bd	Domain

Pfam: PF01301, PF21317, PF21467

UniProt features (11 total): binding site 4, active site 2, glycosylation site 2, signal peptide 1, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UWU2-F1	91.11	0.87

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 186 (proton donor); 264 (nucleophile)

Ligand- & substrate-binding residues (4): 81; 127; 185; 331

Glycosylation sites (2): 97, 243

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-2022857	Keratan sulfate degradation
R-HSA-2024101	CS/DS degradation
R-HSA-9840310	Glycosphingolipid catabolism

MSigDB gene sets: 92 (showing top): RNGTGGGC_UNKNOWN, LIANG_HEMATOPOIESIS_STEM_CELL_NUMBER_SMALL_VS_HUGE_UP, MODULE_255, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, MODULE_317, GOBP_MONOSACCHARIDE_CATABOLIC_PROCESS, GOBP_GALACTOSE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, CREB_Q2_01, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_CATABOLIC_PROCESS, REACTOME_SPHINGOLIPID_METABOLISM, GOBP_MONOSACCHARIDE_METABOLIC_PROCESS, REACTOME_METABOLISM_OF_CARBOHYDRATES_AND_CARBOHYDRATE_DERIVATIVES, MODULE_69

GO Biological Process (2): galactose catabolic process (GO:0019388), carbohydrate metabolic process (GO:0005975)

GO Molecular Function (4): beta-galactosidase activity (GO:0004565), hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553), hydrolase activity (GO:0016787), hydrolase activity, acting on glycosyl bonds (GO:0016798)

GO Cellular Component (2): extracellular region (GO:0005576), vacuole (GO:0005773)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Keratan sulfate/keratin metabolism	1
Chondroitin sulfate/dermatan sulfate metabolism	1
Glycosphingolipid metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
galactose metabolic process	1
hexose catabolic process	1
primary metabolic process	1
galactosidase activity	1
hydrolase activity, acting on glycosyl bonds	1
catalytic activity	1
hydrolase activity	1
cellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

676 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GLB1L	TMEM265	A0A087WTH1	696
GLB1L	PATE3	B3GLJ2	594
GLB1L	FNDC8	Q8TC99	576
GLB1L	PATE2	Q6UY27	560
GLB1L	C16orf96	A6NNT2	510
GLB1L	ZNF142	P52746	476
GLB1L	PRSS45P	Q7RTY3	452
GLB1L	CLPSL2	Q6UWE3	447
GLB1L	PATE4	P0C8F1	425
GLB1L	RPL8	P25120	422
GLB1L	NEU2	Q9Y3R4	416
GLB1L	SERINC2	Q96SA4	407
GLB1L	PATE1	Q8WXA2	404
GLB1L	A0A087WTJ2	A0A087WTJ2	398
GLB1L	HEXD	Q8WVB3	388

IntAct

29 interactions, top by confidence:

A	B	Type	Score
LEP	LEPR	psi-mi:“MI:0914”(association)	0.700
ERP29	GLB1L	psi-mi:“MI:0914”(association)	0.640
ERP29	ARSB	psi-mi:“MI:0914”(association)	0.530
CRP	QSOX1	psi-mi:“MI:0914”(association)	0.530
PPP1CC	GLB1L	psi-mi:“MI:0915”(physical association)	0.370
SCGB2A2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
LYZL2	MANBA	psi-mi:“MI:0914”(association)	0.350
ERP29	EXOC5	psi-mi:“MI:0914”(association)	0.350
CGREF1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
CDH23	GTPBP10	psi-mi:“MI:0914”(association)	0.350
SCGB2A1	RAP1BL	psi-mi:“MI:0914”(association)	0.350
PSCA	METTL15	psi-mi:“MI:0914”(association)	0.350
RLN1	RTL8C	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	RTL8C	psi-mi:“MI:0914”(association)	0.350
CEACAM8	PRRT4	psi-mi:“MI:0914”(association)	0.350
GPIHBP1	SAC3D1	psi-mi:“MI:0914”(association)	0.350
DHFR2	MANBA	psi-mi:“MI:0914”(association)	0.350
C1orf54	AGRN	psi-mi:“MI:0914”(association)	0.350
LCN6	COCH	psi-mi:“MI:0914”(association)	0.350
DEFB109B	CHST10	psi-mi:“MI:0914”(association)	0.350
HYOU1	SNX2	psi-mi:“MI:0914”(association)	0.350
LYPD2	PLXNA2	psi-mi:“MI:0914”(association)	0.350
ISLR		psi-mi:“MI:0914”(association)	0.350
PDGFRA	QSOX1	psi-mi:“MI:0914”(association)	0.350
DNASE1L1	QSOX1	psi-mi:“MI:0914”(association)	0.350
C1orf54	QSOX1	psi-mi:“MI:0914”(association)	0.350
CLGN	TMEM131L	psi-mi:“MI:0914”(association)	0.350
LCN6	HIGD1C	psi-mi:“MI:0914”(association)	0.350

BioGRID (26): GLB1L (Affinity Capture-MS), GLB1L (Affinity Capture-MS), GLB1L (Affinity Capture-MS), GLB1L (Affinity Capture-MS), GLB1L (Affinity Capture-RNA), GLB1L (Affinity Capture-MS), GLB1L (Affinity Capture-MS), GLB1L (Affinity Capture-MS), GLB1L (Affinity Capture-MS), GLB1L (Affinity Capture-MS), GLB1L (Affinity Capture-MS), GLB1L (Affinity Capture-MS), GLB1L (Affinity Capture-MS), GLB1L (Affinity Capture-MS), GLB1L (Affinity Capture-MS)

ESM2 similar proteins: A2RSQ1, O19015, O22585, P10538, P16278, P23780, P45582, P48980, P49676, Q00662, Q0DGD7, Q0INM3, Q0IZZ8, Q3UPY5, Q58D55, Q5R7P4, Q5XIL5, Q60HF6, Q60V90, Q67VU7, Q6L6S1, Q6UWU2, Q75HQ3, Q7G3T8, Q7XFK2, Q7Y223, Q8GX69, Q8IW92, Q8NCI6, Q8RUV9, Q8VC60, Q8VZR2, Q93324, Q93Z24, Q95LV1, Q966W3, Q9C6W4, Q9FN08, Q9FZ29, Q9GV16

Diamond homologs: A1CE56, A1D199, A1D1Z9, A1DJ58, A1DM65, A2QA64, A2QAN3, A2QL84, A2RSQ1, A6RPN7, A7EBU5, A7EZS5, B0XMP7, B0XNY2, B0XXE7, B0Y752, B2W791, B6GW04, B6H5X9, B6QHA9, B6QLF0, B8N2I5, B8N6V7, B8NKI4, B8QGZ3, I0AIT9, O19015, P16278, P23780, P29853, P48982, Q0CMF3, Q0DGD7, Q2U6P1, Q2UCU3, Q2UMD5, Q3UPY5, Q4WG05, Q4WNE4, Q4WRD3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

104 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	86
Likely benign	6
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2179 predictions. Top by Δscore:

Variant	Effect	Δscore
2:219237638:C:CT	donor_gain	1.0000
2:219237821:CTCA:C	donor_loss	1.0000
2:219237822:TCA:T	donor_loss	1.0000
2:219237823:CA:C	donor_loss	1.0000
2:219237824:A:AC	donor_gain	1.0000
2:219237824:A:T	donor_loss	1.0000
2:219237825:C:CA	donor_loss	1.0000
2:219237825:C:CC	donor_gain	1.0000
2:219237953:AACAC:A	acceptor_gain	1.0000
2:219237954:ACAC:A	acceptor_gain	1.0000
2:219237955:CAC:C	acceptor_gain	1.0000
2:219237955:CACC:C	acceptor_gain	1.0000
2:219237956:AC:A	acceptor_gain	1.0000
2:219237957:CCTG:C	acceptor_gain	1.0000
2:219237958:C:CC	acceptor_gain	1.0000
2:219237964:A:C	acceptor_gain	1.0000
2:219238804:C:CT	acceptor_gain	1.0000
2:219238815:C:CT	acceptor_gain	1.0000
2:219239555:A:AC	donor_gain	1.0000
2:219239556:C:CC	donor_gain	1.0000
2:219239556:CTTA:C	donor_gain	1.0000
2:219239558:TAC:T	donor_loss	1.0000
2:219239559:A:AC	donor_gain	1.0000
2:219239559:AC:A	donor_loss	1.0000
2:219239560:C:CA	donor_gain	1.0000
2:219239560:CA:C	donor_gain	1.0000
2:219239560:CAT:C	donor_gain	1.0000
2:219239560:CATG:C	donor_gain	1.0000
2:219239560:CATGT:C	donor_gain	1.0000
2:219239678:TTTAC:T	acceptor_gain	1.0000

AlphaMissense

4273 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:219239170:G:C	S328R	0.997
2:219239170:G:T	S328R	0.997
2:219239172:T:G	S328R	0.997
2:219239569:A:C	S298R	0.996
2:219239569:A:T	S298R	0.996
2:219239571:T:G	S298R	0.996
2:219242802:C:G	R119T	0.996
2:219242908:A:G	W84R	0.996
2:219242908:A:T	W84R	0.996
2:219239563:G:C	N300K	0.995
2:219239563:G:T	N300K	0.995
2:219240084:T:A	E186V	0.995
2:219240086:A:C	N185K	0.995
2:219240086:A:T	N185K	0.995
2:219240197:G:C	S180R	0.995
2:219240197:G:T	S180R	0.995
2:219240199:T:G	S180R	0.995
2:219242527:T:A	R146S	0.995
2:219242527:T:G	R146S	0.995
2:219243271:A:G	F39S	0.995
2:219239677:G:C	N262K	0.994
2:219239677:G:T	N262K	0.994
2:219242528:C:G	R146T	0.994
2:219243231:G:C	S52R	0.994
2:219243231:G:T	S52R	0.994
2:219243233:T:G	S52R	0.994
2:219239427:G:C	N309K	0.993
2:219239427:G:T	N309K	0.993
2:219240087:T:A	N185I	0.993
2:219240090:T:A	E184V	0.993

dbSNP variants (sampled 300 via entrez): RS1000126926 (2:219243402 G>T), RS1000150580 (2:219236722 G>C), RS1000543493 (2:219245719 T>A,G), RS1000619249 (2:219240024 CG>C), RS1001526126 (2:219247436 A>G), RS1001662510 (2:219241080 CAAAAA>C,CAAAA,CAAAAAA), RS1002031647 (2:219246041 C>G,T), RS1002200789 (2:219245260 C>G), RS1002662058 (2:219242667 T>C), RS1002782070 (2:219242271 G>A), RS1003294197 (2:219237613 G>T), RS1003784936 (2:219243539 A>C), RS1004192428 (2:219243074 C>A,G,T), RS1004418024 (2:219236632 C>T), RS1004566261 (2:219244287 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cisplatin	affects cotreatment, affects expression, increases expression	2
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
beta-lapachone	decreases expression, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	affects methylation	1
perfluorooctanoic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
jinfukang	increases expression	1
Panobinostat	affects cotreatment, affects expression	1
Acetaminophen	increases expression	1
Doxorubicin	decreases expression	1
Nickel	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Aflatoxin B1	increases methylation	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.