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GLB1 galactosidase beta 1 [ Homo sapiens (human) ]

Gene ID: 2720, updated on 11-Jun-2021

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
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
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Genomic context

See GLB1 in Genome Data Viewer
Location:
3p22.3
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (32961108..33097146, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (33038109..33138638, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 71 Neighboring gene C-C motif chemokine receptor 4 Neighboring gene uncharacterized LOC107986072 Neighboring gene uncharacterized LOC107986073 Neighboring gene SEC13 homolog, nuclear pore and COPII coat complex component pseudogene 1 Neighboring gene SUMO2 pseudogene 10 Neighboring gene RNA, 7SL, cytoplasmic 296, pseudogene Neighboring gene transmembrane protein with metallophosphoesterase domain Neighboring gene cartilage associated protein

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma.
GeneReviews: Not available
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
GeneReviews: Not available
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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables beta-galactosidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
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 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
PubMed 

General protein information

Preferred Names
beta-galactosidase
Names
acid beta-galactosidase
elastin binding protein
elastin receptor 1, 67kDa
lactase
NP_000395.3
NP_001073279.2
NP_001129074.2
NP_001303969.2
NP_001380509.1

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

  1. NG_009005.1 RefSeqGene

    Range
    4973..105595
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000404.4NP_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
    Related
    ENSP00000306920.4, ENST00000307363.10
    Conserved Domains (2) summary
    pfam01301
    Location:40354
    Glyco_hydro_35; Glycosyl hydrolases family 35
    pfam13364
    Location:551619
    BetaGal_dom4_5; Beta-galactosidase jelly roll domain
  2. NM_001079811.3NP_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
    Related
    ENSP00000382333.2, ENST00000399402.7
    Conserved Domains (2) summary
    pfam01301
    Location:10324
    Glyco_hydro_35; Glycosyl hydrolases family 35
    pfam13364
    Location:521589
    BetaGal_dom4_5; Beta-galactosidase jelly roll domain
  3. NM_001135602.3NP_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
    Related
    ENSP00000305920.8, ENST00000307377.12
    Conserved Domains (2) summary
    pfam13364
    Location:420488
    BetaGal_dom4_5; Beta-galactosidase jelly roll domain
    cl38930
    Location:40223
    AmyAc_family; Alpha amylase catalytic domain family
  4. NM_001317040.2NP_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
    Conserved Domains (2) summary
    pfam01301
    Location:88402
    Glyco_hydro_35; Glycosyl hydrolases family 35
    pfam13364
    Location:599667
    BetaGal_dom4_5; Beta-galactosidase jelly roll domain
  5. NM_001393580.1NP_001380509.1  beta-galactosidase isoform e precursor

    Status: REVIEWED

    Source sequence(s)
    AC112211, AC137560

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    32961108..33097146 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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