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

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

Summary

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
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Genomic context

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

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001286423.2NP_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:38353
    Glyco_hydro_35; Glycosyl hydrolases family 35
    pfam13364
    Location:527605
    BetaGal_dom4_5; Beta-galactosidase jelly roll domain
  2. NM_001286427.1NP_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:38263
    AmyAc_family; Alpha amylase catalytic domain family
    cl26201
    Location:36500
    GanA; Beta-galactosidase GanA [Carbohydrate transport and metabolism]
  3. NM_024506.5NP_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:38353
    Glyco_hydro_35; Glycosyl hydrolases family 35
    pfam13364
    Location:527605
    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_017004895.2XP_016860384.1  beta-galactosidase-1-like protein isoform X2

    UniProtKB/TrEMBL
    B4DTH1
    Conserved Domains (2) summary
    cl07893
    Location:38263
    AmyAc_family; Alpha amylase catalytic domain family
    cl26201
    Location:36500
    GanA; Beta-galactosidase GanA [Carbohydrate transport and metabolism]
  2. XM_047445815.1XP_047301771.1  beta-galactosidase-1-like protein isoform X2

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

    UniProtKB/Swiss-Prot
    Q6UWU2, Q96DR0
    UniProtKB/TrEMBL
    A0A140VJK0
  4. XM_024453138.2XP_024308906.1  beta-galactosidase-1-like protein isoform X2

    UniProtKB/TrEMBL
    B4DTH1
    Conserved Domains (2) summary
    cl07893
    Location:38263
    AmyAc_family; Alpha amylase catalytic domain family
    cl26201
    Location:36500
    GanA; Beta-galactosidase GanA [Carbohydrate transport and metabolism]
  5. XM_024453137.2XP_024308905.1  beta-galactosidase-1-like protein isoform X1

    UniProtKB/Swiss-Prot
    Q6UWU2, Q96DR0
    UniProtKB/TrEMBL
    A0A140VJK0, B4DRS5
    Conserved Domains (2) summary
    pfam01301
    Location:38353
    Glyco_hydro_35; Glycosyl hydrolases family 35
    pfam13364
    Location:527605
    BetaGal_dom4_5; Beta-galactosidase jelly roll domain
  6. XM_047445816.1XP_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_054343868.1XP_054199843.1  beta-galactosidase-1-like protein isoform X2

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

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

    UniProtKB/Swiss-Prot
    Q6UWU2, Q96DR0
    UniProtKB/TrEMBL
    A0A140VJK0
  4. XM_054343869.1XP_054199844.1  beta-galactosidase-1-like protein isoform X2

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

    UniProtKB/Swiss-Prot
    Q6UWU2, Q96DR0
    UniProtKB/TrEMBL
    A0A140VJK0
  6. XM_054343871.1XP_054199846.1  beta-galactosidase-1-like protein isoform X3