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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 56
  • EC 3.2.1.- 4
  • EC 3.2.1 56

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 Glycosaminoglycan metabolism and Keratan sulfate/keratin metabolism. 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 GLB1.

UniProtKB/Swiss-Prot for GLB1L Gene

  • Probable glycosyl hydrolase.

Additional gene information for GLB1L Gene

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

Genomics for GLB1L Gene

GeneHancer (GH) Regulatory Elements for GLB1L Gene

Promoters and enhancers for GLB1L 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
GH02I219244 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 585.1 -4.6 -4640 11.2 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 GLB1L TUBA4A STK16 ZFAND2B ANKZF1 ATG9A DNAJB2 MIR153-1 PTPRN ENSG00000230432
GH02I219243 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 560.8 +2.1 2095 0.6 USF1 HNF4A ZBTB33 GLB1L PIR61675 STK16
GH02I219245 Enhancer 0.4 ENCODE dbSUPER 550.8 +1.2 1201 0 GLB1L PIR61675 STK16
GH02I219569 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 20.6 -326.1 -326053 4 PKNOX1 CLOCK FOXA2 ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 INHA OBSL1 ZNF142 RNF25 NHEJ1 SLC23A3 STK36 STK11IP GLB1L DNPEP
GH02I219205 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 18.5 +38.2 38166 2.9 HDGF PKNOX1 FOXA2 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZFAND2B GLB1L ABCB6 GC02M219219 PIR34268
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GLB1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GLB1L gene promoter:

Genomic Locations for GLB1L Gene

Genomic Locations for GLB1L Gene
chr2:219,236,598-219,245,478
(GRCh38/hg38)
Size:
8,881 bases
Orientation:
Minus strand
chr2:220,101,328-220,110,200
(GRCh37/hg19)

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

Q6UWU2:
  • YMFHGGTNFG
  • LVENMGR
  • ITTSYDY
  • YMFHGGTNF
  • GVHDRAYV
  • KPEIHLR
  • NSEYYTGW
  • TSYDYDAP
  • KGQVWING

Post-translational modifications for GLB1L Gene

  • Glycosylation at posLast=9797 and posLast=243243

Domains & Families for GLB1L Gene

Gene Families for GLB1L Gene

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

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

Function for GLB1L Gene

Molecular function for GLB1L Gene

UniProtKB/Swiss-Prot Function:
Probable glycosyl hydrolase.

Enzyme Numbers (IUBMB) for GLB1L Gene

Phenotypes From GWAS Catalog 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 --
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with GLB1L: view
genes like me logo Genes that share phenotypes with GLB1L: view

Clone Products

No data available for Human Phenotype Ontology , Animal Models , 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
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 GLB1L gene
Compartment Confidence
extracellular 3
lysosome 3
plasma membrane 2
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GLB1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005773 vacuole IBA --
genes like me logo Genes that share ontologies with GLB1L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GLB1L Gene

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 --
GO:0008152 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, 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

Evidence on tissue expression from TISSUES for GLB1L Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with GLB1L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia GLB1L 33 34
  • 99.13 (n)
cow
(Bos Taurus)
Mammalia GLB1L 33 34
  • 89.6 (n)
dog
(Canis familiaris)
Mammalia GLB1L 33 34
  • 88.45 (n)
mouse
(Mus musculus)
Mammalia Glb1l 33 16 34
  • 85.33 (n)
rat
(Rattus norvegicus)
Mammalia Glb1l 33
  • 84.95 (n)
oppossum
(Monodelphis domestica)
Mammalia GLB1L 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLB1L 33 34
  • 63.94 (n)
lizard
(Anolis carolinensis)
Reptilia GLB1L 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glb1 33
  • 59.41 (n)
zebrafish
(Danio rerio)
Actinopterygii glb1l 33 34
  • 59.47 (n)
wufj54e10 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002058 33
  • 51.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ect3 33 34
  • 51.09 (n)
Gal 34
  • 36 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T19B10.3 34
  • 38 (a)
ManyToMany
H22K11.2 34
  • 32 (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 Variation AA Info Type
rs1000126926 -- 219,243,402(-) G/T intron_variant
rs1000150580 -- 219,236,722(-) G/C 3_prime_UTR_variant
rs1000543493 -- 219,245,719(-) T/A/G upstream_transcript_variant
rs1000619249 -- 219,240,025(-) GG/G coding_sequence_variant, frameshift, intron_variant
rs1001662510 -- 219,241,081(-) AAAAAAAAA/AAAAAAAAAA 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)

Additional Variant Information 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

Additional Disease Information for 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 HF … Gray A (Genome research 2003) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Identification of the human testis protein phosphatase 1 interactome. (PMID: 21382349) Fardilha M … da Cruz e Silva EF (Biochemical pharmacology 2011) 3 58
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3 58

Products for GLB1L Gene

Sources for GLB1L Gene

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