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Aliases for GLB1L3 Gene

Aliases for GLB1L3 Gene

  • Galactosidase Beta 1 Like 3 2 3 5
  • Galactosidase, Beta 1-Like 3 2
  • Galactosidase Beta 1-Like 3 2
  • EC 58
  • EC 3.2.1.- 4
  • EC 3.2.1 58

External Ids for GLB1L3 Gene

Previous GeneCards Identifiers for GLB1L3 Gene

  • GC11P133652
  • GC11P134145
  • GC11P130101

Summaries for GLB1L3 Gene

GeneCards Summary for GLB1L3 Gene

GLB1L3 (Galactosidase Beta 1 Like 3) is a Protein Coding gene. Diseases associated with GLB1L3 include Leber Congenital Amaurosis. GO annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and beta-galactosidase activity. An important paralog of this gene is GLB1L2.

Additional gene information for GLB1L3 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLB1L3 Gene

Genomics for GLB1L3 Gene

Regulatory Elements for GLB1L3 Gene

Enhancers for GLB1L3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H134275 1.4 Ensembl ENCODE dbSUPER 13.4 +2.5 2495 2.8 KLF17 BMI1 FEZF1 ZNF2 GLIS2 RUNX3 CREM JUNB REST ZEB2 GLB1L3 ACAD8 GC11P134288
GH11H134036 1.4 Ensembl ENCODE dbSUPER 10 -236.0 -236000 4 PKNOX1 YY1 GLIS2 EGR1 EGR2 SP3 SP5 ZEB2 ELF1 ZNF518A IGSF9B JAM3 GLB1L3 LOC100128239 LOC105369582
GH11H134118 1.4 FANTOM5 Ensembl ENCODE dbSUPER 9.6 -153.7 -153654 4.7 GATA3 POLR2A IKZF1 JUN FOS NFE2 NCAPD3 JAM3 LOC100533644 ENSG00000255348 IGSF9B GLB1L3 THYN1 GC11M134124 LOC102725195
GH11H134252 1.1 ENCODE 12 -20.8 -20847 2.1 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207 ZNF143 ACAD8 THYN1 GLB1L3 PIR51401
GH11H134139 1.1 Ensembl ENCODE dbSUPER 9.2 -134.3 -134314 1.2 CTCF ZNF654 REST RAD21 TEAD3 ZNF143 SMC3 RCOR1 PRDM1 JAM3 NCAPD3 LOC100533644 ENSG00000255348 VPS26B IGSF9B GLB1L3 THYN1 PIR32251 GC11P134146
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GLB1L3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for GLB1L3 Gene

Genomic Locations for GLB1L3 Gene
47,117 bases
Plus strand

Genomic View for GLB1L3 Gene

Genes around GLB1L3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLB1L3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLB1L3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLB1L3 Gene

Proteins for GLB1L3 Gene

  • Protein details for GLB1L3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Beta-galactosidase-1-like protein 3
    Protein Accession:
    Secondary Accessions:
    • A6NEM0
    • A6NN15
    • Q6P3S3
    • Q96FF8

    Protein attributes for GLB1L3 Gene

    653 amino acids
    Molecular mass:
    74823 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GLB1L3 Gene


neXtProt entry for GLB1L3 Gene

Selected DME Specific Peptides for GLB1L3 Gene


Post-translational modifications for GLB1L3 Gene

  • Ubiquitination at posLast=3434 and posLast=6262
  • Modification sites at PhosphoSitePlus

Domains & Families for GLB1L3 Gene

Gene Families for GLB1L3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GLB1L3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyl hydrolase 35 family.
  • Belongs to the glycosyl hydrolase 35 family.
genes like me logo Genes that share domains with GLB1L3: view

Function for GLB1L3 Gene

Enzyme Numbers (IUBMB) for GLB1L3 Gene

Phenotypes From GWAS Catalog for GLB1L3 Gene

Gene Ontology (GO) - Molecular Function for GLB1L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004565 beta-galactosidase activity IBA --
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with GLB1L3: view
genes like me logo Genes that share phenotypes with GLB1L3: view

Animal Model Products

CRISPR Products

miRNA for GLB1L3 Gene

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GLB1L3 Gene

Localization for GLB1L3 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GLB1L3 gene
Compartment Confidence
mitochondrion 2
lysosome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GLB1L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005773 vacuole IBA --
genes like me logo Genes that share ontologies with GLB1L3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for GLB1L3 Gene

Pathways & Interactions for GLB1L3 Gene

SuperPathways for GLB1L3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GLB1L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with GLB1L3: view

No data available for Pathways by source and SIGNOR curated interactions for GLB1L3 Gene

Drugs & Compounds for GLB1L3 Gene

No Compound Related Data Available

Transcripts for GLB1L3 Gene

Unigene Clusters for GLB1L3 Gene

Galactosidase, beta 1-like 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLB1L3 Gene

No ASD Table

Relevant External Links for GLB1L3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GLB1L3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GLB1L3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GLB1L3 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.8) and Brain - Cerebellum (x4.4).

Protein differential expression in normal tissues from HIPED for GLB1L3 Gene

This gene is overexpressed in Cerebrospinal fluid (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GLB1L3 Gene

Protein tissue co-expression partners for GLB1L3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GLB1L3 Gene:


SOURCE GeneReport for Unigene cluster for GLB1L3 Gene:


Evidence on tissue expression from TISSUES for GLB1L3 Gene

  • Lung(4)
genes like me logo Genes that share expression patterns with GLB1L3: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GLB1L3 Gene

Orthologs for GLB1L3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GLB1L3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GLB1L3 33 34
  • 99.13 (n)
(Canis familiaris)
Mammalia GLB1L3 33 34
  • 77.51 (n)
(Mus musculus)
Mammalia Glb1l3 33 16 34
  • 73.66 (n)
(Rattus norvegicus)
Mammalia Glb1l3 33
  • 73.4 (n)
(Bos Taurus)
Mammalia GLB1L3 33 34
  • 73.39 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 57 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 54 (a)
(Gallus gallus)
Aves -- 34
  • 55 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 49 (a)
(Danio rerio)
Actinopterygii GLB1L2 34
  • 48 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ect3 34
  • 33 (a)
Gal 34
  • 31 (a)
(Caenorhabditis elegans)
Secernentea T19B10.3 34
  • 32 (a)
H22K11.2 34
  • 28 (a)
Species where no ortholog for GLB1L3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GLB1L3 Gene

Gene Tree for GLB1L3 (if available)
Gene Tree for GLB1L3 (if available)

Paralogs for GLB1L3 Gene

Paralogs for GLB1L3 Gene

(3) SIMAP similar genes for GLB1L3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GLB1L3: view

Variants for GLB1L3 Gene

Sequence variations from dbSNP and Humsavar for GLB1L3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000002362 -- 134,291,865(+) AGCTA(C/T)TCAGG intron-variant, upstream-variant-2KB
rs1000073626 -- 134,296,865(+) AATAA(A/T)AACAA intron-variant
rs1000089742 -- 134,321,556(+) AAATA(C/T)GGCAC downstream-variant-500B
rs1000116818 -- 134,297,626(+) GAGGC(C/T)GAGGT intron-variant
rs1000147361 -- 134,281,310(+) TTGGG(A/G)CAGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GLB1L3 Gene

Variant ID Type Subtype PubMed ID
nsv957363 CNV deletion 24416366
nsv832299 CNV loss 17160897
nsv826149 CNV loss 20364138
nsv826148 CNV gain 20364138
nsv556605 CNV gain 21841781
nsv556599 CNV loss 21841781
nsv556598 CNV loss 21841781
nsv521623 CNV gain 19592680
nsv521581 CNV gain 19592680
nsv516459 CNV gain+loss 19592680
nsv469993 CNV gain 18288195
nsv469992 CNV loss 18288195
nsv468901 CNV loss 19166990
nsv1051069 CNV gain 25217958
nsv1037294 CNV loss 25217958
esv3892114 CNV gain 25118596
esv3892113 CNV gain+loss 25118596
esv3892112 CNV gain+loss 25118596
esv3628167 CNV gain 21293372
esv3628166 CNV loss 21293372
esv3628165 CNV gain 21293372
esv3628164 CNV loss 21293372
esv3580172 CNV gain 25503493
esv2760555 CNV gain+loss 21179565
esv2745326 CNV deletion 23290073
esv2745325 CNV deletion 23290073
esv2674216 CNV deletion 23128226
esv2670656 CNV deletion 23128226
esv2475970 CNV deletion 19546169
dgv59n111 CNV duplication 26073780
dgv4e196 CNV duplication 17116639
dgv2205n54 CNV loss 21841781
dgv2204n54 CNV gain+loss 21841781
dgv171n27 CNV loss 19166990
dgv170n27 CNV gain 19166990
dgv1303n100 CNV gain+loss 25217958
dgv1302n100 CNV loss 25217958

Variation tolerance for GLB1L3 Gene

Residual Variation Intolerance Score: 74.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.21; 39.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GLB1L3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLB1L3 Gene

Disorders for GLB1L3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GLB1L3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
leber congenital amaurosis
  • lca
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for GLB1L3

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GLB1L3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GLB1L3 Gene

Publications for GLB1L3 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  2. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 60

Products for GLB1L3 Gene

Sources for GLB1L3 Gene

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