Aliases for GLB1L Gene

Aliases for GLB1L Gene

  • Galactosidase Beta 1 Like 2 3 5
  • Beta-Galactosidase-1-Like Protein 3 4
  • Testicular Tissue Protein Li 74 3
  • Galactosidase, Beta 1-Like 2
  • EC 3.2.1.23 52
  • EC 3.2.1.- 4
  • EC 3.2.1 52

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. Diseases associated with GLB1L include Sjogren-Larsson Syndrome. Among its related pathways are Sphingolipid metabolism and Glycosaminoglycan 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 Summary for GLB1L Gene

Additional gene information for GLB1L Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
GH02J219244 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 535 -4.6 -4633 11.3 RXRA EP300 ZBTB40 ZNF217 SIN3A NRF1 TCF12 MYC USF1 POLR2G GLB1L TUBA4A STK16 ZFAND2B ANKZF1 ATG9A DNAJB2 MIR153-1 PTPRN ENSG00000230432
GH02J219243 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 538.3 +2.2 2177 1 USF1 ZBTB33 HNF4A SP1 USF2 YY1 GLB1L lnc-TUBA4A-1 piR-38630
GH02J219245 Enhancer 0.3 ENCODE dbSUPER 500.7 +1.2 1201 0 GLB1L HSALNG0022359 STK16 lnc-TUBA4A-1 piR-38630
GH02J219569 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 20.6 -326.1 -326053 4 FOXK2 ZNF217 EP300 TCF12 POLR2G NCOR1 RBAK ZFX ZNF639 POLR2A INHA OBSL1 lnc-OBSL1-2 ZNF142 NHEJ1 SLC23A3 RNF25 STK36 DNPEP STK11IP
GH02J219205 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 18.5 +38.3 38294 3.2 EP300 ZBTB40 ZNF217 SIN3A NRF1 POLR2G NCOR1 GTF2E2 PHF8 JUND HSALNG0022346 ZFAND2B GLB1L SLC23A3 BCS1L NHEJ1 GMPPA ENSG00000272644 CNOT9 USP37
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLB1L on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLB1L

Top Transcription factor binding sites by QIAGEN in the GLB1L gene promoter:
  • AP-1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • MyoD
  • Sp1

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)
Size:
8,873 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

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

Post-translational modifications for GLB1L Gene

  • Glycosylation at Asn97 and Asn243
  • Modification sites at PhosphoSitePlus

Domains & Families for GLB1L Gene

Gene Families for GLB1L Gene

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

Protein Domains for GLB1L Gene

Blocks:
  • Glycoside hydrolase, family 35
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GLB1L Gene

GenScript: Design optimal peptide antigens:
  • Beta-galactosidase-1-like protein (GLB1L_HUMAN)

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 21873635
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

Animal Model Products

CRISPR Products

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 1
peroxisome 0
endoplasmic reticulum 0

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 21873635
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

mRNA/cDNA for GLB1L Gene

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

CRISPR Products

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

Expression for GLB1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for GLB1L Gene



Protein tissue co-expression partners for GLB1L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.13 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GLB1L 31 30
  • 89.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GLB1L 31 30
  • 88.45 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Glb1l 17 31 30
  • 85.33 (n)
rat
(Rattus norvegicus)
Mammalia Glb1l 30
  • 84.95 (n)
oppossum
(Monodelphis domestica)
Mammalia GLB1L 31
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLB1L 31 30
  • 63.94 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLB1L 31
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glb1 30
  • 59.41 (n)
zebrafish
(Danio rerio)
Actinopterygii glb1l 31 30
  • 59.47 (n)
OneToOne
wufj54e10 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002058 30
  • 51.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ect3 31 30
  • 51.09 (n)
ManyToMany
Gal 31
  • 36 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T19B10.3 31
  • 38 (a)
ManyToMany
H22K11.2 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GLB1L: view image

Paralogs for GLB1L Gene

Paralogs for GLB1L Gene

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

  • GLB1L_HUMAN
  • C9J1Y9_HUMAN
  • C9JE41_HUMAN
  • F8WCT5_HUMAN
  • H7BZ46_HUMAN

Pseudogenes.org Pseudogenes for GLB1L Gene

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

Variants for GLB1L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GLB1L Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
713058 Benign: not provided 219,237,136(-) T/C MISSENSE_VARIANT
771132 Benign: not provided 219,239,841(-) A/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for GLB1L Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GLB1L Gene

MalaCards: The human disease database

(1) MalaCards diseases for GLB1L Gene - From: DISEASES

Disorder Aliases PubMed IDs
sjogren-larsson syndrome
  • sls
- elite association - COSMIC cancer census association via MalaCards
Search GLB1L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GLB1L

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

No data available for 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 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. (PMID: 29845934) Faust TB … Frankel AD (eLife 2018) 3 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54

Products for GLB1L Gene

Sources for GLB1L Gene