GLB1 galactosidase beta 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GLB1provided by HGNC
Official Full Name: galactosidase beta 1provided by HGNC
Primary source: HGNC:HGNC:4298
See related: Ensembl:ENSG00000170266 MIM:611458; AllianceGenome:HGNC:4298
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: EBP; ELNR1; MPS4B
Summary: 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 enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]
Expression: Ubiquitous expression in thyroid (RPKM 28.5), placenta (RPKM 24.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p22.3

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (32961108..33097146, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (32962888..33098917, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (33002600..33138638, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

p53 Regulates Mitochondrial Dynamics in Vascular Smooth Muscle Cell Calcification.
Title: p53 Regulates Mitochondrial Dynamics in Vascular Smooth Muscle Cell Calcification.
Higher Oxidative Stress in Endometriotic Lesions Upregulates Senescence-Associated p16[ink4a] and beta-Galactosidase in Stromal Cells.
Title: Higher Oxidative Stress in Endometriotic Lesions Upregulates Senescence-Associated p16(ink4a) and β-Galactosidase in Stromal Cells.
Detection of GM1-gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry.
Title: Detection of GM1-gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry.
Senescence-associated beta-galactosidase reveals the abundance of senescent CD8+ T cells in aging humans.
Title: Senescence-associated β-galactosidase reveals the abundance of senescent CD8+ T cells in aging humans.
A computational approach to analyse the amino acid variants of GLB1 protein causing GM1 Gangliosidosis.
Title: A computational approach to analyse the amino acid variants of GLB1 protein causing GM1 Gangliosidosis.
Increased cellular senescence in the murine and human stenotic kidney: Effect of mesenchymal stem cells.
Title: Increased cellular senescence in the murine and human stenotic kidney: Effect of mesenchymal stem cells.
Reduction of senescence-associated beta-galactosidase activity by vitamin E in human fibroblasts depends on subjects' age and cell passage number.
Title: Reduction of senescence-associated beta-galactosidase activity by vitamin E in human fibroblasts depends on subjects' age and cell passage number.
Morquio B disease: From pathophysiology towards diagnosis.
Title: Morquio B disease: From pathophysiology towards diagnosis.
Different Stages of Quiescence, Senescence, and Cell Stress Identified by Molecular Algorithm Based on the Expression of Ki67, RPS6, and Beta-Galactosidase Activity.
Title: Different Stages of Quiescence, Senescence, and Cell Stress Identified by Molecular Algorithm Based on the Expression of Ki67, RPS6, and Beta-Galactosidase Activity.
Novel and deleterious variants in VPS53, GLB1, and MLC1, genes previously associated with variable neurodevelopmental anomalies, were found to segregate with intellectual disabilities in the three families.
Title: Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.

Submit: New GeneRIF Correction See all GeneRIFs (62)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
GM1 gangliosidosis type 2 MedGen: C0268272 OMIM: 230600 GeneReviews: GLB1-Related Disorders	Compare labs
GM1 gangliosidosis type 3 MedGen: C0268273 OMIM: 230650 GeneReviews: GLB1-Related Disorders	Compare labs
Infantile GM1 gangliosidosis MedGen: C0268271 OMIM: 230500 GeneReviews: GLB1-Related Disorders	Compare labs
Mucopolysaccharidosis, MPS-IV-B MedGen: C0086652 OMIM: 253010 GeneReviews: GLB1-Related Disorders	Compare labs

EBI GWAS Catalog

Description
Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:181208 (e-PCR)
- UniSTS:155176

G16542 (e-PCR)
- UniSTS:45379

GDB:314877 (e-PCR)
- UniSTS:156496

GDB:362721 (e-PCR)
- UniSTS:156757

GDB:362736 (e-PCR)
- UniSTS:156759

GDB:362739 (e-PCR)
- UniSTS:156760

RH103313 (e-PCR)
- UniSTS:97644

SHGC-76807 (e-PCR)
- UniSTS:57753

D3S3936 (e-PCR)
- UniSTS:81604

RH69516 (e-PCR)
- UniSTS:49635

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-galactosidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables beta-galactosidase activity	IDA Inferred from Direct Assay more info	PubMed
enables beta-galactosidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables beta-galactosidase activity	TAS Traceable Author Statement more info	PubMed
enables galactoside binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in galactose catabolic process	IEA Inferred from Electronic Annotation more info
involved_in glycosphingolipid catabolic process	TAS Traceable Author Statement more info
involved_in heparan sulfate proteoglycan catabolic process	TAS Traceable Author Statement more info
involved_in keratan sulfate catabolic process	TAS Traceable Author Statement more info
involved_in response to Thyroglobulin triiodothyronine	IEA Inferred from Electronic Annotation more info
involved_in response to cortisone	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in azurophil granule lumen	TAS Traceable Author Statement more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lysosomal lumen	TAS Traceable Author Statement more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in vacuole	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: beta-galactosidase

Names: acid beta-galactosidase; elastin binding protein; elastin receptor 1, 67kDa; lactase

NP_000395.3

EC 3.2.1.23

NP_001073279.2

EC 3.2.1.23

NP_001129074.2

EC 3.2.1.23

NP_001303969.2

EC 3.2.1.23

NP_001380509.1

EC 3.2.1.23

NCBI Reference Sequences (RefSeq)

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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

NG_009005.2 RefSeqGene

Range

5000..105529

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000404.4 → NP_000395.3 beta-galactosidase isoform a preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the predominant isoform (a).

Source sequence(s)

AC112211

Consensus CDS

CCDS43061.1

UniProtKB/Swiss-Prot

B2R7H8, B7Z6B0, P16278, P16279

Related

ENSP00000306920.4, ENST00000307363.10

Conserved Domains (2) summary

pfam01301
Location:40 → 354

Glyco_hydro_35; Glycosyl hydrolases family 35

pfam13364
Location:551 → 619

BetaGal_dom4_5; Beta-galactosidase jelly roll domain
NM_001079811.3 → NP_001073279.2 beta-galactosidase isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream start site compared to variant 1. The encoded isoform (b) has a shorter N-terminus and lacks a predicted signal peptide compared to isoform a.

Source sequence(s)

AC112211

Consensus CDS

CCDS43062.1

UniProtKB/Swiss-Prot

B2R7H8, B7Z6B0, P16278, P16279

Related

ENSP00000382333.2, ENST00000399402.7

Conserved Domains (2) summary

pfam01301
Location:10 → 324

Glyco_hydro_35; Glycosyl hydrolases family 35

pfam13364
Location:521 → 589

BetaGal_dom4_5; Beta-galactosidase jelly roll domain
NM_001135602.3 → NP_001129074.2 beta-galactosidase isoform c precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks three alternate exons in the coding region compared to variant 1. The encoded isoform (c) is shorter than isoform a. This isoform (c) may undergo proteolytic processing similar to isoform a.

Source sequence(s)

AC112211

Consensus CDS

CCDS46785.1

UniProtKB/TrEMBL

B7Z5H9, E7EQ29

Related

ENSP00000305920.8, ENST00000307377.12

Conserved Domains (2) summary

pfam13364
Location:420 → 488

BetaGal_dom4_5; Beta-galactosidase jelly roll domain

cl38930
Location:40 → 223

AmyAc_family; Alpha amylase catalytic domain family
NM_001317040.2 → NP_001303969.2 beta-galactosidase isoform d precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (d) is longer than isoform a. This isoform (d) may undergo proteolytic processing similar to isoform a.

Source sequence(s)

AC112211

UniProtKB/TrEMBL

B7Z6Q5

Conserved Domains (2) summary

pfam01301
Location:88 → 402

Glyco_hydro_35; Glycosyl hydrolases family 35

pfam13364
Location:599 → 667

BetaGal_dom4_5; Beta-galactosidase jelly roll domain
NM_001393580.1 → NP_001380509.1 beta-galactosidase isoform e precursor

Status: REVIEWED

Source sequence(s)

AC112211, AC137560

UniProtKB/Swiss-Prot

B2R7H8, B7Z6B0, P16278, P16279

Conserved Domains (1) summary

PLN03059
Location:34 → 389

PLN03059; beta-galactosidase; Provisional