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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 3.2.1.23 63
  • EC 3.2.1.- 4
  • EC 3.2.1 63

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.

No data available for Entrez Gene 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GLB1L3 on UCSC Golden Path with GeneCards custom track

Promoters for GLB1L3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GLB1L3 on UCSC Golden Path with GeneCards custom track

Genomic Location for GLB1L3 Gene

Chromosome:
11
Start:
134,274,245 bp from pter
End:
134,321,361 bp from pter
Size:
47,117 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

Proteomics data for GLB1L3 Gene at MOPED

Selected DME Specific Peptides for GLB1L3 Gene

Post-translational modifications for GLB1L3 Gene

  • Ubiquitination at Lys 34 and Lys 62
  • Modification sites at PhosphoSitePlus

Other Protein References for GLB1L3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GLB1L3 Gene

Suggested Antigen Peptide Sequences for GLB1L3 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for GLB1L3 Gene

Function for GLB1L3 Gene

Enzyme Numbers (IUBMB) for GLB1L3 Gene

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

Animal Model Products

miRNA for GLB1L3 Gene

No data available for Molecular function , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GLB1L3 Gene

Localization for GLB1L3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GLB1L3 Gene COMPARTMENTS Subcellular localization image for GLB1L3 gene
Compartment Confidence
lysosome 2
mitochondrion 2
vacuole 2
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
peroxisome 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GLB1L3 Gene

Pathways & Interactions for GLB1L3 Gene

SuperPathways for GLB1L3 Gene

No Data Available

Interacting Proteins for GLB1L3 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000396615%0d%0a9606.ENSP00000282276%0d%0a9606.ENSP00000394051%0d%0a9606.ENSP00000262027%0d%0a
Selected Interacting proteins: ENSP00000396615 for GLB1L3 Gene via STRING

Gene Ontology (GO) - Biological Process for GLB1L3 Gene

None

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:

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

No ASD Table

Relevant External Links for GLB1L3 Gene

GeneLoc Exon Structure for
GLB1L3
ECgene alternative splicing isoforms for
GLB1L3

Expression for GLB1L3 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for GLB1L3 Gene Hs.721382

genes like me logo Genes that share expression patterns with GLB1L3: view

Protein tissue co-expression partners for GLB1L3 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia GLB1L3 35
  • 73.39 (n)
  • 67.18 (a)
GLB1L3 36
  • 66 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GLB1L3 35
  • 77.51 (n)
  • 70.65 (a)
GLB1L3 36
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Glb1l3 35
  • 73.66 (n)
  • 67.92 (a)
Glb1l3 16
Glb1l3 36
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GLB1L3 35
  • 99.13 (n)
  • 98.77 (a)
GLB1L3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Glb1l3 35
  • 73.4 (n)
  • 67.29 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 57 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 54 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 36
  • 55 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 49 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii GLB1L2 36
  • 48 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ect3 36
  • 33 (a)
ManyToMany
Gal 36
  • 31 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea H22K11.2 36
  • 28 (a)
ManyToMany
T19B10.3 36
  • 32 (a)
ManyToMany
Species with no ortholog for GLB1L3:
  • 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)

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
rs472287 - 134,282,081(-) TGTAG(C/G/T)GGCCT nc-transcript-variant, reference, missense
rs2509062 - 134,312,481(-) TGCCA(C/T)GTCAT nc-transcript-variant, reference, missense
rs521321 -- 134,290,160(-) CAACC(A/G)ATGCA intron-variant
rs521637 -- 134,284,513(-) TGACC(C/T)CAGGT intron-variant
rs526507 -- 134,310,801(+) CTGGG(C/G)TTAAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv521581 CNV Gain 19592680
nsv832299 CNV Loss 17160897
nsv898475 CNV Gain 21882294
nsv468901 CNV Loss 19166990
nsv826148 CNV Gain 20364138
nsv826149 CNV Loss 20364138
nsv469992 CNV Loss 18288195
dgv170n27 CNV Gain 19166990
dgv1326n71 CNV Gain+Loss 21882294
dgv1327n71 CNV Gain 21882294
nsv516459 CNV Gain+Loss 19592680
esv2475970 CNV Deletion 19546169
esv2745325 CNV Deletion 23290073
esv2674216 CNV Deletion 23128226
dgv171n27 CNV Loss 19166990
nsv469993 CNV Gain 18288195
nsv898488 CNV Loss 21882294
nsv898490 CNV Gain 21882294
dgv4e196 CNV Duplication 17116639
nsv521623 CNV Gain 19592680
esv2745326 CNV Deletion 23290073
esv2670656 CNV Deletion 23128226
nsv898491 CNV Gain 21882294

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

HapMap Linkage Disequilibrium report
GLB1L3

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)
GLB1L3
Human Genome Epidemiology (HuGE) Navigator
GLB1L3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GLB1L3
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 J.E. … Uhl G.R. (Mol. Med. 2010) 3 48 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3
  5. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor T.D. … Sakaki Y. (Nature 2006) 3

Products for GLB1L3 Gene

Sources for GLB1L3 Gene

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