Chitobiase is a lysosomal glycosidase involved in degradation of asparagine-linked oligosaccharides on glycoproteins (Aronson and Kuranda, 1989 [PubMed 2531691]).[supplied by OMIM, Nov 2010] See more...

Aliases for CTBS Gene

Aliases for CTBS Gene

  • Chitobiase 2 3 5
  • Di-N-Acetylchitobiase 2 3 4
  • Chitobiase, Di-N-Acetyl- 2 3
  • CTB 3 4
  • EC 3.2.1.- 4
  • CTBS 5

External Ids for CTBS Gene

Previous HGNC Symbols for CTBS Gene

  • CTB

Previous GeneCards Identifiers for CTBS Gene

  • GC01P085516
  • GC01M084156
  • GC01M084307
  • GC01M084442
  • GC01M084732
  • GC01M085018
  • GC01M083128

Summaries for CTBS Gene

Entrez Gene Summary for CTBS Gene

  • Chitobiase is a lysosomal glycosidase involved in degradation of asparagine-linked oligosaccharides on glycoproteins (Aronson and Kuranda, 1989 [PubMed 2531691]).[supplied by OMIM, Nov 2010]

GeneCards Summary for CTBS Gene

CTBS (Chitobiase) is a Protein Coding gene. Diseases associated with CTBS include Phonagnosia and Focal Hand Dystonia. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and chitinase activity. An important paralog of this gene is CHIA.

UniProtKB/Swiss-Prot Summary for CTBS Gene

  • Involved in the degradation of asparagine-linked glycoproteins. Hydrolyze of N-acetyl-beta-D-glucosamine (1-4)N-acetylglucosamine chitobiose core from the reducing end of the bond, it requires prior cleavage by glycosylasparaginase.

Gene Wiki entry for CTBS Gene

Additional gene information for CTBS Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTBS Gene

Genomics for CTBS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CTBS 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
GH01J084571 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 613.5 +0.6 579 4.2 HNRNPL TFE3 KDM1A ZNF692 POLR2A BACH1 LARP7 RELA RBFOX2 ZNF24 CTBS GNG5 ENSG00000284882 LOC105378819 SPATA1 MCOLN2 lnc-CTBS-1 piR-50909
GH01J084582 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE 608.4 -9.1 -9121 2 IKZF1 ZNF692 FOXA1 PRDM1 ZBTB44 ZNF184 HMBOX1 POLR2A FOXK2 FOXA2 CTBS lnc-CTBS-1 lnc-CTBS-3 RPF1 SPATA1 ENSG00000284882 LOC105378819 ENSG00000285374 SSX2IP
GH01J084596 Promoter 0.3 EPDnew 611.8 -22.1 -22090 0.1 CTBS RPF1 ENSG00000285374 lnc-CTBS-1 LINC01461 SSX2IP
GH01J084618 Promoter/Enhancer 1.5 ENCODE CraniofacialAtlas dbSUPER 17.5 -45.7 -45706 2.9 CTCF PRDM10 ZNF629 RFX1 KDM1A ZNF692 LARP7 ZNF143 ZIC2 ZSCAN4 LINC01461 ENSG00000271576 SPATA1 CTBS GNG5 RPF1 MCOLN3 ENSG00000285374 SSX2IP
GH01J084503 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 8.6 +68.7 68679 4.8 SP1 GATAD2A PRDM10 REST ZNF629 LEF1 SOX13 IKZF1 KDM1A POLR2A SPATA1 GNG5 lnc-SPATA1-1 CTBS RPF1 MCOLN2 ENSG00000285851
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTBS on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the CTBS gene promoter:
  • AP-4
  • ER-alpha
  • Evi-1
  • Lhx3a
  • LHX3b
  • LUN-1
  • NF-kappaB1
  • p300
  • PPAR-alpha
  • RSRFC4

Genomic Locations for CTBS Gene

Genomic Locations for CTBS Gene
chr1:84,549,611-84,574,480
(GRCh38/hg38)
Size:
24,870 bases
Orientation:
Minus strand
chr1:85,015,289-85,040,163
(GRCh37/hg19)
Size:
24,875 bases
Orientation:
Minus strand

Genomic View for CTBS Gene

Genes around CTBS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CTBS Gene

Proteins for CTBS Gene

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

    Protein Symbol:
    Q01459-DIAC_HUMAN
    Recommended name:
    Di-N-acetylchitobiase
    Protein Accession:
    Q01459
    Secondary Accessions:
    • Q5VX50

    Protein attributes for CTBS Gene

    Size:
    385 amino acids
    Molecular mass:
    43760 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CTBS Gene

Post-translational modifications for CTBS Gene

  • Glycosylation at Asn193, Asn228, Asn262, and Asn299
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for CTBS Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Boster Bio Antibodies for CTBS
  • Santa Cruz Biotechnology (SCBT) Antibodies for CTBS

No data available for DME Specific Peptides for CTBS Gene

Domains & Families for CTBS Gene

Gene Families for CTBS Gene

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

Protein Domains for CTBS Gene

InterPro:
Blocks:
  • Glycoside hydrolase, family 18/2
ProtoNet:

Suggested Antigen Peptide Sequences for CTBS Gene

GenScript: Design optimal peptide antigens:
  • Di-N-acetylchitobiase (DIAC_HUMAN)
  • Chitobiase, di-N-acetyl-, isoform CRA_c (Q5VX50_HUMAN)
  • CTBS protein (Q8TC97_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01459

UniProtKB/Swiss-Prot:

DIAC_HUMAN :
  • Belongs to the glycosyl hydrolase 18 family.
Family:
  • Belongs to the glycosyl hydrolase 18 family.
genes like me logo Genes that share domains with CTBS: view

Function for CTBS Gene

Molecular function for CTBS Gene

UniProtKB/Swiss-Prot Function:
Involved in the degradation of asparagine-linked glycoproteins. Hydrolyze of N-acetyl-beta-D-glucosamine (1-4)N-acetylglucosamine chitobiose core from the reducing end of the bond, it requires prior cleavage by glycosylasparaginase.
GENATLAS Biochemistry:
lysosomal chitobiase,involved in degradation of asparagine-linked glycoproteins

Enzyme Numbers (IUBMB) for CTBS Gene

Phenotypes From GWAS Catalog for CTBS Gene

Gene Ontology (GO) - Molecular Function for CTBS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0004568 chitinase activity IBA 21873635
GO:0008061 chitin binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with CTBS: view
genes like me logo Genes that share phenotypes with CTBS: view

Animal Models for CTBS Gene

MGI Knock Outs for CTBS:
  • Ctbs Ctbs<tm1Tbec>

Animal Model Products

  • Taconic Biosciences Mouse Models for CTBS

CRISPR Products

Inhibitory RNA Products

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

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CTBS Gene

Localization for CTBS Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTBS Gene

Lysosome.

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 CTBS gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 2
mitochondrion 2
nucleus 2
cytosol 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CTBS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 16502470
GO:0005764 lysosome IEA --
genes like me logo Genes that share ontologies with CTBS: view

Pathways & Interactions for CTBS Gene

PathCards logo

SuperPathways for CTBS Gene

No Data Available

Gene Ontology (GO) - Biological Process for CTBS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006032 chitin catabolic process IEA,IBA 21873635
GO:0008152 metabolic process IEA --
GO:0009313 oligosaccharide catabolic process IEA --
genes like me logo Genes that share ontologies with CTBS: view

No data available for Pathways by source and SIGNOR curated interactions for CTBS Gene

Drugs & Compounds for CTBS Gene

(1) Drugs for CTBS Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glucosamine Approved, Investigational Pharma 88

(1) Additional Compounds for CTBS Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Glucosaminide
  • 4,5-Dihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy-4-hydroxy-6-(hydroxymethyl)oxa
  • N-2-yl]Oxy-6-(hydroxymethyl)oxane-2,4-diol
78341-33-0
genes like me logo Genes that share compounds with CTBS: view

Transcripts for CTBS Gene

mRNA/cDNA for CTBS Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 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 CTBS

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c
SP1: -
SP2:
SP3: - -
SP4: -

Relevant External Links for CTBS Gene

GeneLoc Exon Structure for
CTBS

Expression for CTBS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CTBS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Whole Blood (x7.7).

Protein differential expression in normal tissues from HIPED for CTBS Gene

This gene is overexpressed in Serum (36.6), Nasal epithelium (6.4), and Urine (6.2).

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



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

SOURCE GeneReport for Unigene cluster for CTBS Gene:

Hs.513557

Evidence on tissue expression from TISSUES for CTBS Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Skin(2.5)
  • Muscle(2.3)
  • Blood(2.1)
  • Kidney(2)
genes like me logo Genes that share expression patterns with CTBS: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CTBS Gene

Orthologs for CTBS Gene

This gene was present in the common ancestor of chordates.

Orthologs for CTBS Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CTBS 30 31
  • 98.43 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ctbs 30 17 31
  • 86.97 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CTBS 30 31
  • 84.52 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CTBS 30
  • 84.21 (n)
CTB 31
  • 71 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ctbs 30
  • 82.8 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CTBS 31
  • 77 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CTBS 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CTBS 30 31
  • 74.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 66 (a)
OneToMany
-- 31
  • 62 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ctbs 30
  • 67.85 (n)
Str.703 30
African clawed frog
(Xenopus laevis)
Amphibia MGC64330 30
Zebrafish
(Danio rerio)
Actinopterygii ctbs 30
  • 66.96 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 34 (a)
OneToOne
Species where no ortholog for CTBS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for CTBS Gene

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

Paralogs for CTBS Gene

Paralogs for CTBS Gene

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

Variants for CTBS Gene

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

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
718265 Benign: not provided 84,555,086(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
723110 Benign: not provided 84,555,112(-) G/A MISSENSE_VARIANT,INTRON_VARIANT
728719 Benign: not provided 84,574,314(-) C/T SYNONYMOUS_VARIANT
rs15911 - p.Val274Ile
rs3768249 - p.Asp310Tyr

Additional dbSNP identifiers (rs#s) for CTBS Gene

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

Variant ID Type Subtype PubMed ID
nsv1000325 CNV gain 25217958

Variation tolerance for CTBS Gene

Residual Variation Intolerance Score: 91.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.48; 97.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTBS Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CTBS Gene

MalaCards: The human disease database

(8) MalaCards diseases for CTBS Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search CTBS in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with CTBS: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CTBS Gene

Publications for CTBS Gene

  1. Lysosomal chitobiase (CTB) and the G-protein gamma 5 subunit (GNG5) genes co-localize to human chromosome 1p22. (PMID: 7606925) Ahmad W … Aronson NN (Cytogenetics and cell genetics 1995) 2 3 23
  2. Structure of the human gene for lysosomal di-N-acetylchitobiase. (PMID: 10336991) Liu B … Aronson NN (Glycobiology 1999) 3 4
  3. Cloning and expression of the cDNA sequence encoding the lysosomal glycosidase di-N-acetylchitobiase. (PMID: 1527079) Fisher KJ … Aronson NN (The Journal of biological chemistry 1992) 3 4
  4. Characterization of the cDNA and genomic sequence of a G protein gamma subunit (gamma 5). (PMID: 1549114) Fisher KJ … Aronson NN (Molecular and cellular biology 1992) 2 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for CTBS Gene

  • Signalway ELISA kits for CTBS

Sources for CTBS Gene