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

Gene ID: 79411, updated on 3-Apr-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, Apr 2022]
Expression
Broad expression in testis (RPKM 35.1), kidney (RPKM 6.9) and 17 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219236598..219245444, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219721363..219730211, complement)
105.20220307 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)

Genotypes

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 carbohydrate metabolic process IEA
Inferred from Electronic Annotation
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_2023_10

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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