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    GLB1L2 galactosidase beta 1 like 2 [ Homo sapiens (human) ]

    Gene ID: 89944, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GLB1L2provided by HGNC
    Official Full Name
    galactosidase beta 1 like 2provided by HGNC
    Primary source
    HGNC:HGNC:25129
    See related
    Ensembl:ENSG00000149328 AllianceGenome:HGNC:25129
    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
    Also known as
    MST114; MSTP114
    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, Dec 2024]
    Expression
    Broad expression in prostate (RPKM 28.1), thyroid (RPKM 21.3) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GLB1L2 in Genome Data Viewer
    Location:
    11q25
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (134331988..134376324)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (134373617..134417937)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (134201882..134246218)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4095 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 5773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5774 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4097 Neighboring gene galactosidase beta 1 like 3 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 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 Neighboring gene beta-1,3-glucuronyltransferase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134263326-134264156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:134267481-134268340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134274303-134274804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:134280725-134281284

    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. Interactome Analysis of Human Phospholipase D and Phosphatidic Acid-Associated Protein Network. Kattan RE, et al. Mol Cell Proteomics, 2022 Feb. PMID 35007762, Free PMC Article
    2. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. Otsuki T, et al. DNA Res, 2005. PMID 16303743
    3. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. Dias Neto E, et al. Proc Natl Acad Sci U S A, 2000 Mar 28. PMID 10737800, Free PMC Article
    4. Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. Antoniali G, et al. Nat Commun, 2017 Oct 6. PMID 28986522, Free PMC Article
    5. 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

    See all (13) 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-galactosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 2
    NP_001357389.1
    NP_001357390.1
    NP_001357391.1
    NP_001357392.1
    NP_612351.2

    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_001370460.1 → NP_001357389.1  beta-galactosidase-1-like protein 2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AP000859, AP003971
      Conserved Domains (1) summary
      pfam01301
      Location:53 → 417
      Glyco_hydro_35; Glycosyl hydrolases family 35

    2. NM_001370461.1 → NP_001357390.1  beta-galactosidase-1-like protein 2 isoform b precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), as well as variant 2, encodes isoform b.
      Source sequence(s)
      AP000859, AP003971
      Consensus CDS
      CCDS31724.1
      UniProtKB/Swiss-Prot
      A6NCE6, Q6UX60, Q8IW92, Q8NC62, Q8NCB3, Q8NCJ1, Q96HP3
      Related
      ENSP00000444628.1, ENST00000535456.7
      Conserved Domains (1) summary
      pfam01301
      Location:53 → 363
      Glyco_hydro_35; Glycosyl hydrolases family 35

    3. NM_001370462.1 → NP_001357391.1  beta-galactosidase-1-like protein 2 isoform c precursor

      Status: VALIDATED

      Source sequence(s)
      AP000859, AP003971
      Conserved Domains (1) summary
      cl29077
      Location:53 → 246
      GH_D; Glycoside hydrolases, clan D

    4. NM_001370463.1 → NP_001357392.1  beta-galactosidase-1-like protein 2 isoform d precursor

      Status: VALIDATED

      Source sequence(s)
      AP000859, AP003971
      Conserved Domains (1) summary
      cl29077
      Location:53 → 149
      GH_D; Glycoside hydrolases, clan D

    5. NM_138342.4 → NP_612351.2  beta-galactosidase-1-like protein 2 isoform b precursor

      See identical proteins and their annotated locations for NP_612351.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2), as well as variant 3, encodes isoform b.
      Source sequence(s)
      BC040641, BF923895
      Consensus CDS
      CCDS31724.1
      UniProtKB/Swiss-Prot
      A6NCE6, Q6UX60, Q8IW92, Q8NC62, Q8NCB3, Q8NCJ1, Q96HP3
      Conserved Domains (1) summary
      pfam01301
      Location:53 → 363
      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
      134331988..134376324
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007062523.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      134373617..134417937
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008488484.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IW92.1 GenPept UniProtKB/Swiss-Prot:Q8IW92

    Gene LinkOut

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

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