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

Gene ID: 89944, updated on 2-Nov-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, Nov 2024]
Expression
Broad expression in prostate (RPKM 28.1), thyroid (RPKM 21.3) and 17 other tissues See more
Orthologs
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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 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)

Genotypes

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 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
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

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