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Aliases for CTBS Gene

Aliases for CTBS Gene

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

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 focal hand dystonia. GO annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and chitinase activity.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTBS Gene

Genomics for CTBS Gene

Regulatory Elements for CTBS Gene

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

ENSRs around CTBS on UCSC Golden Path with GeneCards custom track

Genomic Location for CTBS Gene

Chromosome:
1
Start:
84,549,606 bp from pter
End:
84,574,480 bp from pter
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

Proteomics data for CTBS Gene at MOPED

Post-translational modifications for CTBS Gene

  • Glycosylation at Asn 193, Asn 228, Asn 262, and Asn 299
  • Modification sites at PhosphoSitePlus

Other Protein References for CTBS Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for CTBS (Chitobiase/CTBS)

No data available for DME Specific Peptides for CTBS Gene

Domains & Families for CTBS Gene

Gene Families for CTBS Gene

Suggested Antigen Peptide Sequences for CTBS Gene

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

GENATLAS Biochemistry:
lysosomal chitobiase,involved in degradation of asparagine-linked glycoproteins
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.

Enzyme Numbers (IUBMB) for CTBS Gene

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

Animal Models for CTBS Gene

MGI Knock Outs for CTBS:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for CTBS Gene COMPARTMENTS Subcellular localization image for CTBS gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
cytosol 2
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for CTBS Gene

Pathways & Interactions for CTBS Gene

SuperPathways for CTBS Gene

No Data Available

Interacting Proteins for CTBS Gene

STRING Interaction Network Preview (showing 2 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.ENSP00000359664%0d%0a9606.ENSP00000413625%0d%0a9606.ENSP00000385269%0d%0a
Selected Interacting proteins: Q01459-DIAC_HUMAN ENSP00000359664 for CTBS Gene via I2D STRING

Gene Ontology (GO) - Biological Process for CTBS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate 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 Nutra 53

(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

Unigene Clusters for CTBS Gene

Chitobiase, di-N-acetyl-:
Representative Sequences:

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
ECgene alternative splicing isoforms for
CTBS

Expression for CTBS Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for CTBS Gene



SOURCE GeneReport for Unigene cluster for CTBS Gene Hs.513557

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

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia CTBS 35
  • 84.21 (n)
  • 74.27 (a)
CTB 36
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CTBS 35
  • 84.52 (n)
  • 77.04 (a)
CTBS 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ctbs 35
  • 86.97 (n)
  • 87.2 (a)
Ctbs 16
Ctbs 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CTBS 35
  • 98.43 (n)
  • 97.91 (a)
CTBS 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ctbs 35
  • 82.8 (n)
  • 82.8 (a)
oppossum
(Monodelphis domestica)
Mammalia CTBS 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTBS 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves CTBS 35
  • 74.22 (n)
  • 75.29 (a)
CTBS 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 62 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ctbs 35
  • 67.85 (n)
  • 67.46 (a)
Str.703 35
African clawed frog
(Xenopus laevis)
Amphibia MGC64330 35
zebrafish
(Danio rerio)
Actinopterygii ctbs 35
  • 66.96 (n)
  • 70 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToOne
Species with no ortholog for CTBS:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CTBS Gene

No data available for Paralogs for CTBS Gene

Variants for CTBS Gene

Sequence variations from dbSNP and Humsavar for CTBS Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs3768249 - 84,563,286(-) ATAAA(C/G/T)ATCAG reference, missense
rs15911 - 84,563,394(+) AGGGA(C/T)TTTTG reference, missense
rs1891126 -- 84,570,855(-) TGGGA(A/C)CCCTA intron-variant
rs2303306 -- 84,570,556(+) TGCTG(C/G)ACACA intron-variant
rs2303307 -- 84,574,272(+) CGGCA(A/G)AGCTC reference, synonymous-codon

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)

Relevant External Links for CTBS Gene

HapMap Linkage Disequilibrium report
CTBS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CTBS Gene

Disorders for CTBS Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
focal hand dystonia
  • organic writer's cramp
- elite association - COSMIC cancer census association via MalaCards
Search CTBS in MalaCards View complete list of genes associated with diseases

Relevant External Links for CTBS

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CTBS
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 N.N. (Cytogenet. Cell Genet. 1995) 2 3 23 67
  2. Characterization of the cDNA and genomic sequence of a G protein gamma subunit (gamma 5). (PMID: 1549114) Fisher K.J. … Aronson N.N. (Mol. Cell. Biol. 1992) 2 3
  3. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3
  4. Ubiquitin-mediated proteolysis of HuR by heat shock. (PMID: 19322201) Abdelmohsen K. … Gorospe M. (EMBO J. 2009) 3
  5. Human colostrum: identification of minor proteins in the aqueous phase by proteomics. (PMID: 16502470) Palmer D.J. … Cooper G.J. (Proteomics 2006) 3

Products for CTBS Gene

Sources for CTBS Gene

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