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Aliases for GLB1L Gene

Aliases for GLB1L Gene

  • Galactosidase Beta 1 Like 2 3 5
  • Galactosidase, Beta 1-Like 2
  • EC 3.2.1.23 61
  • EC 3.2.1.- 4
  • EC 3.2.1 61

External Ids for GLB1L Gene

Previous GeneCards Identifiers for GLB1L Gene

  • GC02M220303
  • GC02M220304
  • GC02M219926
  • GC02M219810
  • GC02M220101
  • GC02M211954

Summaries for GLB1L Gene

GeneCards Summary for GLB1L Gene

GLB1L (Galactosidase Beta 1 Like) is a Protein Coding gene. Among its related pathways are Defective B4GALT7 causes EDS, progeroid type and Keratan sulfate/keratin metabolism. GO annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and beta-galactosidase activity. An important paralog of this gene is GLB1.

UniProtKB/Swiss-Prot for GLB1L Gene

  • Probable glycosyl hydrolase.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLB1L Gene

Genomics for GLB1L Gene

Regulatory Elements for GLB1L Gene

Enhancers for GLB1L 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around GLB1L on UCSC Golden Path with GeneCards custom track

Genomic Location for GLB1L Gene

Chromosome:
2
Start:
219,236,598 bp from pter
End:
219,245,478 bp from pter
Size:
8,881 bases
Orientation:
Minus strand

Genomic View for GLB1L Gene

Genes around GLB1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLB1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLB1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLB1L Gene

Proteins for GLB1L Gene

  • Protein details for GLB1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UWU2-GLB1L_HUMAN
    Recommended name:
    Beta-galactosidase-1-like protein
    Protein Accession:
    Q6UWU2
    Secondary Accessions:
    • Q96DR0

    Protein attributes for GLB1L Gene

    Size:
    654 amino acids
    Molecular mass:
    74158 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB70855.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GLB1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLB1L Gene

Selected DME Specific Peptides for GLB1L Gene

Post-translational modifications for GLB1L Gene

  • Glycosylation at Asn 97 and Asn 243
  • Modification sites at PhosphoSitePlus

Domains & Families for GLB1L Gene

Suggested Antigen Peptide Sequences for GLB1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UWU2

UniProtKB/Swiss-Prot:

GLB1L_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 GLB1L: view

No data available for Gene Families for GLB1L Gene

Function for GLB1L Gene

Molecular function for GLB1L Gene

UniProtKB/Swiss-Prot Function:
Probable glycosyl hydrolase.

Enzyme Numbers (IUBMB) for GLB1L Gene

Gene Ontology (GO) - Molecular Function for GLB1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004565 beta-galactosidase activity IBA --
genes like me logo Genes that share ontologies with GLB1L: view
genes like me logo Genes that share phenotypes with GLB1L: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GLB1L Gene

Localization for GLB1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLB1L Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GLB1L Gene COMPARTMENTS Subcellular localization image for GLB1L gene
Compartment Confidence
extracellular 4
lysosome 3
vacuole 3
plasma membrane 2
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GLB1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005773 vacuole IBA --
genes like me logo Genes that share ontologies with GLB1L: view

Pathways & Interactions for GLB1L Gene

genes like me logo Genes that share pathways with GLB1L: view

Gene Ontology (GO) - Biological Process for GLB1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
genes like me logo Genes that share ontologies with GLB1L: view

No data available for SIGNOR curated interactions for GLB1L Gene

Drugs & Compounds for GLB1L Gene

No Compound Related Data Available

Transcripts for GLB1L Gene

Unigene Clusters for GLB1L Gene

Galactosidase, beta 1-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLB1L Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a ·
SP1: - - - - - - - -
SP2: - -
SP3: - - -
SP4: - -
SP5: -
SP6: -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14: -

ExUns: 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^ 19
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for GLB1L Gene

GeneLoc Exon Structure for
GLB1L
ECgene alternative splicing isoforms for
GLB1L

Expression for GLB1L Gene

mRNA expression in normal human tissues for GLB1L Gene

mRNA differential expression in normal tissues according to GTEx for GLB1L Gene

This gene is overexpressed in Testis (x10.2).

Protein differential expression in normal tissues from HIPED for GLB1L Gene

This gene is overexpressed in Testis (33.0), Urine (25.0), and Ovary (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GLB1L Gene



Protein tissue co-expression partners for GLB1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GLB1L Gene:

GLB1L

SOURCE GeneReport for Unigene cluster for GLB1L Gene:

Hs.181173
genes like me logo Genes that share expression patterns with GLB1L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for GLB1L Gene

Orthologs for GLB1L Gene

This gene was present in the common ancestor of animals.

Orthologs for GLB1L Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GLB1L 34
  • 89.6 (n)
  • 87.2 (a)
GLB1L 35
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GLB1L 34
  • 88.45 (n)
  • 86.01 (a)
GLB1L 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Glb1l 34
  • 85.33 (n)
  • 82.46 (a)
Glb1l 16
Glb1l 35
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GLB1L 34
  • 99.13 (n)
  • 98.93 (a)
GLB1L 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Glb1l 34
  • 84.95 (n)
  • 81.34 (a)
oppossum
(Monodelphis domestica)
Mammalia GLB1L 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLB1L 34
  • 63.94 (n)
  • 60.93 (a)
GLB1L 35
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLB1L 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glb1 34
  • 59.41 (n)
  • 59.63 (a)
zebrafish
(Danio rerio)
Actinopterygii glb1l 34
  • 59.47 (n)
  • 57.97 (a)
wufj54e10 34
glb1l 35
  • 56 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002058 34
  • 51.17 (n)
  • 44.3 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ect3 34
  • 51.09 (n)
  • 44.39 (a)
Ect3 35
  • 42 (a)
ManyToMany
Gal 35
  • 36 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea H22K11.2 35
  • 32 (a)
ManyToMany
T19B10.3 35
  • 38 (a)
ManyToMany
Species where no ortholog for GLB1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)

Evolution for GLB1L Gene

ENSEMBL:
Gene Tree for GLB1L (if available)
TreeFam:
Gene Tree for GLB1L (if available)

Paralogs for GLB1L Gene

Paralogs for GLB1L Gene

(3) SIMAP similar genes for GLB1L Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for GLB1L Gene

genes like me logo Genes that share paralogs with GLB1L: view

Variants for GLB1L Gene

Sequence variations from dbSNP and Humsavar for GLB1L Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10176345 -- 219,241,360(+) ggtga(C/T)agagc intron-variant
rs13034870 -- 219,241,237(+) agccg(A/G)gtgtg intron-variant
rs13035325 -- 219,241,442(+) tgtgt(A/G)tatat intron-variant
rs13388808 -- 219,243,297(+) ACTAC(A/G)AACGA reference, synonymous-codon, utr-variant-5-prime
rs10208108 -- 219,240,613(+) GTGGC(A/G)GGTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GLB1L Gene

Variant ID Type Subtype PubMed ID
esv3594357 CNV loss 21293372
esv3893555 CNV loss 25118596
nsv508885 CNV insertion 20534489
nsv834543 CNV loss 17160897

Variation tolerance for GLB1L Gene

Residual Variation Intolerance Score: 51.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.16; 39.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GLB1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLB1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLB1L Gene

Disorders for GLB1L Gene

Relevant External Links for GLB1L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GLB1L

No disorders were found for GLB1L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GLB1L Gene

Publications for GLB1L Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3 4 65
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  3. Identification of the human testis protein phosphatase 1 interactome. (PMID: 21382349) Fardilha M. … da Cruz e Silva E.F. (Biochem. Pharmacol. 2011) 3 65
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3 65
  5. 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) 3 65

Products for GLB1L Gene

Sources for GLB1L Gene

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