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

    Gene ID: 112937, updated on 2-Nov-2024

    Summary

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    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, Nov 2024]
    Expression
    Biased expression in prostate (RPKM 3.4), testis (RPKM 1.2) and 7 other tissues See more
    Orthologs
    mouse all
    NEW
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    Genomic context

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    See GLB1L3 in Genome Data Viewer
    Location:
    11q25
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (134275767..134325304)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (134314651..134366918)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    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

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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

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    involved_in galactose catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in vacuole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    beta-galactosidase-1-like protein 3

    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.

    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_2024_08

    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

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