U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

GLB1L3 galactosidase beta 1 like 3 [ Homo sapiens (human) ]

Gene ID: 112937, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
GLB1L3provided by HGNC
Official Full Name
galactosidase beta 1 like 3provided by HGNC
Primary source
HGNC:HGNC:25147
See related
Ensembl:ENSG00000166105 AllianceGenome:HGNC:25147
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable beta-galactosidase activity. Predicted to be involved in carbohydrate metabolic process. Predicted to be active in vacuole. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in prostate (RPKM 3.4), testis (RPKM 1.2) and 7 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See GLB1L3 in Genome Data Viewer
Location:
11q25
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (134275767..134325304)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (134314651..134366918)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (134146273..134189458)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4095 Neighboring gene thymocyte nuclear protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4096 Neighboring gene acyl-CoA dehydrogenase family member 8 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:134142736-134143291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5773 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4097 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:134180995-134181180 Neighboring gene ATPase H+/K+ transporting subunit beta pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4098 Neighboring gene galactosidase beta 1 like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4099 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134228611-134229134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134246355-134247254 Neighboring gene uncharacterized LOC124902798

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Altered expression of β-galactosidase-1-like protein 3 (Glb1l3) in the retinal pigment epithelium (RPE)-specific 65-kDa protein knock-out mouse model of Leber's congenital amaurosis. Le Carré J, et al. Mol Vis, 2011. PMID 21633714, Free PMC Article
  2. Human chromosome 11 DNA sequence and analysis including novel gene identification. Taylor TD, et al. Nature, 2006 Mar 23. PMID 16554811
  3. A Genome-Wide CRISPR Screen Identifies Genes Critical for Resistance to FLT3 Inhibitor AC220. Hou P, et al. Cancer Res, 2017 Aug 15. PMID 28625976, Free PMC Article
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article
  5. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ90231

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables beta-galactosidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in vacuole IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
beta-galactosidase-1-like protein 3

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_001080407.3 → NP_001073876.2  beta-galactosidase-1-like protein 3

    See identical proteins and their annotated locations for NP_001073876.2

    Status: VALIDATED

    Source sequence(s)
    AK074712, AP000859, BC011001, BC040605, CX760372
    Consensus CDS
    CCDS44780.1
    UniProtKB/Swiss-Prot
    A6NEM0, A6NN15, Q6P3S3, Q8NCI6, Q96FF8
    Related
    ENSP00000396615.2, ENST00000431683.7
    Conserved Domains (1) summary
    pfam01301
    Location:80 → 388
    Glyco_hydro_35; Glycosyl hydrolases family 35

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    134275767..134325304
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542567.3 → XP_011540869.1  beta-galactosidase-1-like protein 3 isoform X2

    Conserved Domains (2) summary
    pfam01301
    Location:127 → 435
    Glyco_hydro_35; Glycosyl hydrolases family 35
    pfam13364
    Location:606 → 678
    BetaGal_dom4_5; Beta-galactosidase jelly roll domain

  2. XM_011542566.3 → XP_011540868.1  beta-galactosidase-1-like protein 3 isoform X1

    Conserved Domains (2) summary
    pfam01301
    Location:127 → 435
    Glyco_hydro_35; Glycosyl hydrolases family 35
    pfam13364
    Location:606 → 678
    BetaGal_dom4_5; Beta-galactosidase jelly roll domain

  3. XM_011542569.3 → XP_011540871.1  beta-galactosidase-1-like protein 3 isoform X5

    Conserved Domains (2) summary
    pfam13364
    Location:469 → 541
    BetaGal_dom4_5; Beta-galactosidase jelly roll domain
    cl07893
    Location:127 → 353
    AmyAc_family; Alpha amylase catalytic domain family

  4. XM_011542568.3 → XP_011540870.1  beta-galactosidase-1-like protein 3 isoform X3

    Conserved Domains (2) summary
    pfam01301
    Location:127 → 423
    Glyco_hydro_35; Glycosyl hydrolases family 35
    pfam13364
    Location:594 → 666
    BetaGal_dom4_5; Beta-galactosidase jelly roll domain

  5. XM_011542570.3 → XP_011540872.1  beta-galactosidase-1-like protein 3 isoform X6

    Conserved Domains (2) summary
    pfam13364
    Location:457 → 529
    BetaGal_dom4_5; Beta-galactosidase jelly roll domain
    cl07893
    Location:127 → 341
    AmyAc_family; Alpha amylase catalytic domain family

  6. XM_047426331.1 → XP_047282287.1  beta-galactosidase-1-like protein 3 isoform X7

  7. XM_011542571.3 → XP_011540873.1  beta-galactosidase-1-like protein 3 isoform X8

    Conserved Domains (1) summary
    pfam01301
    Location:127 → 435
    Glyco_hydro_35; Glycosyl hydrolases family 35

  8. XM_017017156.3 → XP_016872645.1  beta-galactosidase-1-like protein 3 isoform X9

  9. XM_017017155.3 → XP_016872644.1  beta-galactosidase-1-like protein 3 isoform X4

  10. XM_047426332.1 → XP_047282288.1  beta-galactosidase-1-like protein 3 isoform X10

  11. XM_011542572.1 → XP_011540874.1  beta-galactosidase-1-like protein 3 isoform X11

    Conserved Domains (2) summary
    pfam13364
    Location:322 → 394
    BetaGal_dom4_5; Beta-galactosidase jelly roll domain
    cl07893
    Location:1 → 151
    AmyAc_family; Alpha amylase catalytic domain family

  12. XM_011542574.3 → XP_011540876.1  beta-galactosidase-1-like protein 3 isoform X13

    Conserved Domains (2) summary
    pfam13364
    Location:289 → 361
    BetaGal_dom4_5; Beta-galactosidase jelly roll domain
    cl07893
    Location:15 → 118
    AmyAc_family; Alpha amylase catalytic domain family

  13. XM_011542573.1 → XP_011540875.1  beta-galactosidase-1-like protein 3 isoform X12

    Conserved Domains (2) summary
    pfam13364
    Location:320 → 392
    BetaGal_dom4_5; Beta-galactosidase jelly roll domain
    cl07893
    Location:46 → 149
    AmyAc_family; Alpha amylase catalytic domain family

RNA

  1. XR_002957120.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    134314651..134366918
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367569.1 → XP_054223544.1  beta-galactosidase-1-like protein 3 isoform X2

  2. XM_054367568.1 → XP_054223543.1  beta-galactosidase-1-like protein 3 isoform X1

  3. XM_054367572.1 → XP_054223547.1  beta-galactosidase-1-like protein 3 isoform X5

  4. XM_054367570.1 → XP_054223545.1  beta-galactosidase-1-like protein 3 isoform X3

  5. XM_054367573.1 → XP_054223548.1  beta-galactosidase-1-like protein 3 isoform X6

  6. XM_054367574.1 → XP_054223549.1  beta-galactosidase-1-like protein 3 isoform X7

  7. XM_054367575.1 → XP_054223550.1  beta-galactosidase-1-like protein 3 isoform X8

  8. XM_054367576.1 → XP_054223551.1  beta-galactosidase-1-like protein 3 isoform X9

  9. XM_054367571.1 → XP_054223546.1  beta-galactosidase-1-like protein 3 isoform X4

  10. XM_054367577.1 → XP_054223552.1  beta-galactosidase-1-like protein 3 isoform X10

  11. XM_054367578.1 → XP_054223553.1  beta-galactosidase-1-like protein 3 isoform X11

  12. XM_054367580.1 → XP_054223555.1  beta-galactosidase-1-like protein 3 isoform X13

  13. XM_054367579.1 → XP_054223554.1  beta-galactosidase-1-like protein 3 isoform X12

RNA

  1. XR_008488335.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_138416.1: Suppressed sequence

    Description
    NM_138416.1: This RefSeq was permanently suppressed because its last exon is unsupported and it appears to be a partial representation of this gene.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NCI6.3 GenPept UniProtKB/Swiss-Prot:Q8NCI6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous