Aliases for GLB1L3 Gene

Aliases for GLB1L3 Gene

  • Galactosidase Beta 1 Like 3 2 3 5
  • Beta-Galactosidase-1-Like Protein 3 3 4
  • Galactosidase, Beta 1-Like 3 2
  • Galactosidase Beta 1-Like 3 2
  • EC 3.2.1.23 52
  • EC 3.2.1.- 4
  • EC 3.2.1 52

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 Gm1 Gangliosidosis and Leber Congenital Amaurosis. Gene Ontology (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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GLB1L3 Gene

Genomics for GLB1L3 Gene

GeneHancer (GH) Regulatory Elements for GLB1L3 Gene

Promoters and enhancers for GLB1L3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J134270 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 513.3 -0.1 -143 8.2 EP300 CTCF ZSCAN5C NCOR1 ZNF10 ZIC2 KDM6A ZBTB10 GABPA ZBTB26 GLB1L3 lnc-THYN1-1-002 ACAD8 lnc-THYN1-1-001 piR-48820-021
GH11J134252 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 14.4 -20.9 -20944 3.4 ZBTB40 ZNF217 EP300 CTCF TCF12 NRF1 POLR2G SP1 SIX5 ZIC2 ACAD8 THYN1 lnc-NCAPD3-3 GLB1L3 GLB1L2 NCAPD3 piR-57402
GH11J134032 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10 -238.0 -237993 8 JUND ZNF10 ZIC2 ZBTB26 TRIM28 SAP30 ATF2 HDAC2 MXI1 ZNF341 ENSG00000254648 IGSF9B JAM3 GLB1L3 LINC02731
GH11J134222 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 8.6 -49.7 -49744 4.2 ZBTB40 EP300 SIN3A NRF1 POLR2G SP1 GTF2E2 PHF8 FOS ZFX NCAPD3 VPS26B HSALNG0088367 ACAD8 JAM3 GLB1L3 lnc-VPS26B-1
GH11J134118 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.7 -153.7 -153653 4.7 FOS GATA3 NFE2 GATA2 JUN BHLHE40 POLR2A SPI1 NFE2L2 IKZF1 NCAPD3 JAM3 ENSG00000254616 ENSG00000255348 IGSF9B GLB1L3 THYN1 lnc-NCAPD3-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLB1L3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLB1L3

Top Transcription factor binding sites by QIAGEN in the GLB1L3 gene promoter:
  • AML1a
  • CREB
  • deltaCREB
  • Pax-4a
  • POU3F2
  • POU6F1 (c2)
  • SEF-1 (1)

Genomic Locations for GLB1L3 Gene

Genomic Locations for GLB1L3 Gene
chr11:134,274,245-134,321,361
(GRCh38/hg38)
Size:
47,117 bases
Orientation:
Plus strand
chr11:134,144,139-134,189,458
(GRCh37/hg19)
Size:
45,320 bases
Orientation:
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:
    Q8NCI6-GLBL3_HUMAN
    Recommended name:
    Beta-galactosidase-1-like protein 3
    Protein Accession:
    Q8NCI6
    Secondary Accessions:
    • A6NEM0
    • A6NN15
    • Q6P3S3
    • Q96FF8

    Protein attributes for GLB1L3 Gene

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

    Alternative splice isoforms for GLB1L3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLB1L3 Gene

Selected DME Specific Peptides for GLB1L3 Gene

Q8NCI6:
  • YMFHGGTNFG
  • YMFHGGTNF
  • ERGKFDFS
  • GGSIHYFRVPREYW
  • RGIVELLLTSD

Post-translational modifications for GLB1L3 Gene

  • Ubiquitination at Lys34 and Lys62
  • Modification sites at PhosphoSitePlus

Domains & Families for GLB1L3 Gene

Gene Families for GLB1L3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GLB1L3 Gene

GenScript: Design optimal peptide antigens:
  • Beta-galactosidase-1-like protein 3 (GLBL3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NCI6

UniProtKB/Swiss-Prot:

GLBL3_HUMAN :
  • Belongs to the glycosyl hydrolase 35 family.
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 21873635
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GLB1L3

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

COMPARTMENTS
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
lysosome 2
plasma membrane 1
extracellular 1
mitochondrion 1
cytosol 1
cytoskeleton 0
peroxisome 0
endoplasmic reticulum 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for GLB1L3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005773 vacuole IBA 21873635
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

PathCards logo

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

mRNA/cDNA for GLB1L3 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GLB1L3

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

No ASD Table

Relevant External Links for GLB1L3 Gene

GeneLoc Exon Structure for
GLB1L3

Expression for GLB1L3 Gene

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



Protein tissue co-expression partners for GLB1L3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GLB1L3

SOURCE GeneReport for Unigene cluster for GLB1L3 Gene:

Hs.721382

Evidence on tissue expression from TISSUES for GLB1L3 Gene

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

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
chimpanzee
(Pan troglodytes)
Mammalia GLB1L3 31 30
  • 99.13 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GLB1L3 31 30
  • 77.51 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Glb1l3 17 31 30
  • 73.66 (n)
rat
(Rattus norvegicus)
Mammalia Glb1l3 30
  • 73.4 (n)
cow
(Bos Taurus)
Mammalia GLB1L3 31 30
  • 73.39 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 57 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 54 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 31
  • 55 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 49 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii GLB1L2 31
  • 48 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ect3 31
  • 33 (a)
ManyToMany
Gal 31
  • 31 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T19B10.3 31
  • 32 (a)
ManyToMany
H22K11.2 31
  • 28 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for GLB1L3 (if available)
TreeFam:
Gene Tree for GLB1L3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GLB1L3: view image

Paralogs for GLB1L3 Gene

Paralogs for GLB1L3 Gene

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

  • GLBL3_HUMAN
  • H7C115_HUMAN
genes like me logo Genes that share paralogs with GLB1L3: view

Variants for GLB1L3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GLB1L3 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs2509062 - p.Val474Met
rs472287 - p.Arg163Pro

Additional dbSNP identifiers (rs#s) for GLB1L3 Gene

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

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

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)

Additional Variant Information for GLB1L3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLB1L3

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

Disorders for GLB1L3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GLB1L3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
gm1 gangliosidosis
  • beta-galactosidase-1 deficiency
leber congenital amaurosis
  • lca
spondyloepiphyseal dysplasia with congenital joint dislocations
  • sedcjd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GLB1L3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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. Altered expression of β-galactosidase-1-like protein 3 (Glb1l3) in the retinal pigment epithelium (RPE)-specific 65-kDa protein knock-out mouse model of Leber's congenital amaurosis. (PMID: 21633714) Le Carré J … Cottet S (Molecular vision 2011) 2 3 54
  2. 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 41 54
  3. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 3 4 54
  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 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for GLB1L3 Gene

Sources for GLB1L3 Gene