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    GLB1L galactosidase beta 1 like [ Homo sapiens (human) ]

    Gene ID: 79411, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GLB1Lprovided by HGNC
    Official Full Name
    galactosidase beta 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:28129
    See related
    Ensembl:ENSG00000163521 AllianceGenome:HGNC:28129
    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 located in extracellular region. Predicted to be active in vacuole. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 35.1), kidney (RPKM 6.9) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GLB1L in Genome Data Viewer
    Location:
    2q35
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219236598..219245444, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219721363..219730211, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220101320..220110166, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily B member 6 (LAN blood group) Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:220082897-220083764 Neighboring gene autophagy related 9A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220093298-220093846 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220093847-220094394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:220094395-220094942 Neighboring gene ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:220109882-220110464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17145 Neighboring gene serine/threonine kinase 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12351 Neighboring gene tubulin alpha 4a Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17148 Neighboring gene tubulin alpha 4b

    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
    • 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. Apocrine glands are bystanders in hidradenitis suppurativa and their involvement is gender specific. Zouboulis CC, et al. J Eur Acad Dermatol Venereol, 2020 Jul. PMID 32031713
    2. Identification of the human testis protein phosphatase 1 interactome. Fardilha M, et al. Biochem Pharmacol, 2011 Nov 15. PMID 21382349
    3. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    5. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. Faust TB, et al. Elife, 2018 May 30. PMID 29845934, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    Homology

    Clone Names

    • MGC10771

    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 galactose catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region 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-1-like protein
    Names
    testicular tissue protein Li 74
    NP_001273352.1
    NP_001273356.1
    NP_078782.3
    XP_016860384.1
    XP_024308905.1
    XP_024308906.1
    XP_047301770.1
    XP_047301771.1
    XP_047301772.1
    XP_054199841.1
    XP_054199842.1
    XP_054199843.1
    XP_054199844.1
    XP_054199845.1
    XP_054199846.1

    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.

    mRNA and Protein(s)

    1. NM_001286423.2 → NP_001273352.1  beta-galactosidase-1-like protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_001273352.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC068946, BC028370
      Consensus CDS
      CCDS2437.1
      UniProtKB/Swiss-Prot
      Q6UWU2, Q96DR0
      UniProtKB/TrEMBL
      A0A140VJK0, B4DRS5
      Related
      ENSP00000295759.7, ENST00000295759.12
      Conserved Domains (2) summary
      pfam01301
      Location:38 → 353
      Glyco_hydro_35; Glycosyl hydrolases family 35
      pfam13364
      Location:527 → 605
      BetaGal_dom4_5; Beta-galactosidase jelly roll domain

    2. NM_001286427.1 → NP_001273356.1  beta-galactosidase-1-like protein isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has a shorter 5' UTR and lacks two in-frame exons in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC068946, AK300215
      Consensus CDS
      CCDS74657.1
      UniProtKB/TrEMBL
      B4DTH1
      Related
      ENSP00000386354.1, ENST00000409640.5
      Conserved Domains (2) summary
      cl07893
      Location:38 → 263
      AmyAc_family; Alpha amylase catalytic domain family
      cl26201
      Location:36 → 500
      GanA; Beta-galactosidase GanA [Carbohydrate transport and metabolism]

    3. NM_024506.5 → NP_078782.3  beta-galactosidase-1-like protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_078782.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compare to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC068946, AY358639
      Consensus CDS
      CCDS2437.1
      UniProtKB/Swiss-Prot
      Q6UWU2, Q96DR0
      UniProtKB/TrEMBL
      A0A140VJK0, B4DRS5
      Related
      ENSP00000375939.2, ENST00000392089.6
      Conserved Domains (2) summary
      pfam01301
      Location:38 → 353
      Glyco_hydro_35; Glycosyl hydrolases family 35
      pfam13364
      Location:527 → 605
      BetaGal_dom4_5; Beta-galactosidase jelly roll domain

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      219236598..219245444 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004895.2 → XP_016860384.1  beta-galactosidase-1-like protein isoform X2

      UniProtKB/TrEMBL
      B4DTH1
      Conserved Domains (2) summary
      cl07893
      Location:38 → 263
      AmyAc_family; Alpha amylase catalytic domain family
      cl26201
      Location:36 → 500
      GanA; Beta-galactosidase GanA [Carbohydrate transport and metabolism]

    2. XM_047445815.1 → XP_047301771.1  beta-galactosidase-1-like protein isoform X2

    3. XM_047445814.1 → XP_047301770.1  beta-galactosidase-1-like protein isoform X1

      UniProtKB/Swiss-Prot
      Q6UWU2, Q96DR0
      UniProtKB/TrEMBL
      A0A140VJK0

    4. XM_024453138.2 → XP_024308906.1  beta-galactosidase-1-like protein isoform X2

      UniProtKB/TrEMBL
      B4DTH1
      Conserved Domains (2) summary
      cl07893
      Location:38 → 263
      AmyAc_family; Alpha amylase catalytic domain family
      cl26201
      Location:36 → 500
      GanA; Beta-galactosidase GanA [Carbohydrate transport and metabolism]

    5. XM_024453137.2 → XP_024308905.1  beta-galactosidase-1-like protein isoform X1

      UniProtKB/Swiss-Prot
      Q6UWU2, Q96DR0
      UniProtKB/TrEMBL
      A0A140VJK0, B4DRS5
      Conserved Domains (2) summary
      pfam01301
      Location:38 → 353
      Glyco_hydro_35; Glycosyl hydrolases family 35
      pfam13364
      Location:527 → 605
      BetaGal_dom4_5; Beta-galactosidase jelly roll domain

    6. XM_047445816.1 → XP_047301772.1  beta-galactosidase-1-like protein isoform X3

      Related
      ENST00000497855.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      219721363..219730211 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343868.1 → XP_054199843.1  beta-galactosidase-1-like protein isoform X2

    2. XM_054343870.1 → XP_054199845.1  beta-galactosidase-1-like protein isoform X2

    3. XM_054343867.1 → XP_054199842.1  beta-galactosidase-1-like protein isoform X1

      UniProtKB/Swiss-Prot
      Q6UWU2, Q96DR0
      UniProtKB/TrEMBL
      A0A140VJK0

    4. XM_054343869.1 → XP_054199844.1  beta-galactosidase-1-like protein isoform X2

    5. XM_054343866.1 → XP_054199841.1  beta-galactosidase-1-like protein isoform X1

      UniProtKB/Swiss-Prot
      Q6UWU2, Q96DR0
      UniProtKB/TrEMBL
      A0A140VJK0

    6. XM_054343871.1 → XP_054199846.1  beta-galactosidase-1-like protein isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UWU2.1 GenPept UniProtKB/Swiss-Prot:Q6UWU2

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