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Aliases for CTBS Gene

Aliases for CTBS Gene

  • Chitobiase 2 3 5
  • Chitobiase, Di-N-Acetyl- 2 3
  • CTB 3 4
  • Di-N-Acetylchitobiase 3
  • 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 and Hypomyelinating Leukodystrophy. Gene Ontology (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

Additional gene information for CTBS Gene

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

Genomics for CTBS Gene

GeneHancer (GH) Regulatory Elements for CTBS Gene

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
GH01I084572 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 563.6 +0.6 591 2.8 HDGF SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 CTBS SPATA1 GNG5 MCOLN2 PIR44908 GC01P084567
GH01I084618 Enhancer 1.5 Ensembl ENCODE dbSUPER 17.5 -45.7 -45706 2.9 PKNOX1 ZFP64 SIN3A ZNF2 ZNF213 ZNF143 FOS SP3 ZC3H11A REST LINC01461 ENSG00000271576 SPATA1 CTBS GNG5 C1orf52 RPF1 SAMD13 MCOLN3 GC01M084581
GH01I084601 Enhancer 1.1 Ensembl ENCODE 20.8 -29.2 -29169 3.5 ARNT ARID4B ZNF2 TCF12 ZNF143 FOS KLF13 NCOA1 MXD4 REST CTBS SPATA1 RPF1 LINC01461 GC01M084581
GH01I084503 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 8.6 +68.6 68649 4.3 HDGF SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 YY1 SPATA1 GNG5 BCL10 CTBS RPF1 MCOLN2
GH01I084478 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 6.6 +94.7 94672 2.3 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B ZNF766 RPF1 ENSG00000271576 C1orf52 GNG5 CTBS SPATA1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CTBS on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for CTBS Gene

Genomic Locations for CTBS Gene
chr1:84,549,606-84,574,480
(GRCh38/hg38)
Size:
24,875 bases
Orientation:
Minus strand
chr1:85,015,289-85,040,163
(GRCh37/hg19)

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 posLast=193193, posLast=228228, posLast=262262, and posLast=299299
  • Modification sites at PhosphoSitePlus

Other Protein References for CTBS Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for CTBS (Chitobiase/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 secreted proteins

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

Gene Ontology (GO) - Molecular Function for CTBS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004568 chitinase activity IEA,IBA --
GO:0008061 chitin binding IBA --
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:

Animal Model Products

  • Taconic Biosciences Mouse Models for CTBS

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Phenotypes From GWAS Catalog , 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
cytosol 2
mitochondrion 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 IDA,HDA 16502470
GO:0005764 lysosome IEA --
GO:0070062 extracellular exosome IDA,HDA 23376485
genes like me logo Genes that share ontologies with CTBS: view

Pathways & Interactions for CTBS Gene

No Data Available

Interacting Proteins for CTBS Gene

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 --
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 Nutra 211

(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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of CTBS Gene:

CTBS

SOURCE GeneReport for Unigene cluster for CTBS Gene:

Hs.513557

Evidence on tissue expression from TISSUES for CTBS Gene

  • Nervous system(4.5)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with CTBS: view

Primer Products

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 33 34
  • 98.43 (n)
mouse
(Mus musculus)
Mammalia Ctbs 33 16 34
  • 86.97 (n)
dog
(Canis familiaris)
Mammalia CTBS 33 34
  • 84.52 (n)
cow
(Bos Taurus)
Mammalia CTBS 33
  • 84.21 (n)
CTB 34
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ctbs 33
  • 82.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CTBS 34
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CTBS 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves CTBS 33 34
  • 74.22 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 66 (a)
OneToMany
-- 34
  • 62 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ctbs 33
  • 67.85 (n)
Str.703 33
African clawed frog
(Xenopus laevis)
Amphibia MGC64330 33
zebrafish
(Danio rerio)
Actinopterygii ctbs 33
  • 66.96 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
OneToOne
Species where no ortholog for CTBS was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000130325 -- 84,558,552(-) A/G intron_variant
rs1000251317 -- 84,558,259(-) C/G intron_variant
rs1000336567 -- 84,572,627(-) C/G intron_variant
rs1000396000 -- 84,565,154(-) G/A intron_variant
rs1000726078 -- 84,559,302(-) C/A/T intron_variant

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

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

Disorder Aliases PubMed IDs
focal hand dystonia
  • dystonia, focal, task-specific
hypomyelinating leukodystrophy
  • hld
- elite association - COSMIC cancer census association via MalaCards
Search CTBS in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 NN (Cytogenetics and cell genetics 1995) 2 3 22 58
  2. Structure of the human gene for lysosomal di-N-acetylchitobiase. (PMID: 10336991) Liu B … Aronson NN (Glycobiology 1999) 3 4 58
  3. 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 58
  4. 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 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for CTBS Gene

Sources for CTBS Gene

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