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

Gene ID: 79411, updated on 21-Dec-2019

Summary

Official Symbol
GLB1Lprovided by HGNC
Official Full Name
galactosidase beta 1 likeprovided by HGNC
Primary source
HGNC:HGNC:28129
See related
Ensembl:ENSG00000163521
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
Expression
Broad expression in testis (RPKM 35.1), kidney (RPKM 6.9) and 17 other tissues See more
Orthologs

Genomic context

See GLB1L in Genome Data Viewer
Location:
2q35
Exon count:
17
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (219236598..219245444, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220101331..220110155, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily B member 6 (Langereis blood group) Neighboring gene autophagy related 9A Neighboring gene ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 Neighboring gene serine/threonine kinase 16 Neighboring gene tubulin alpha 4a 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

Homology

Clone Names

  • MGC10771

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-galactosidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 
vacuole IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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_024308907.1

NCBI Reference Sequences (RefSeq)

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
    UniProtKB/TrEMBL
    A0A140VJK0
    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
    UniProtKB/TrEMBL
    A0A140VJK0
    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: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024453138.1XP_024308906.1  beta-galactosidase-1-like protein isoform X2

    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_024453139.1XP_024308907.1  beta-galactosidase-1-like protein isoform X3

    Conserved Domains (2) summary
    cl07893
    Location:2110
    AmyAc_family; Alpha amylase catalytic domain family
    cl26201
    Location:46347
    GanA; Beta-galactosidase GanA [Carbohydrate transport and metabolism]
  3. XM_024453137.1XP_024308905.1  beta-galactosidase-1-like protein isoform X1

    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
  4. XM_017004895.1XP_016860384.1  beta-galactosidase-1-like protein isoform X2

    UniProtKB/Swiss-Prot
    Q6UWU2
    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]
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