Human Gene CTBS (uc001dka.2) Description and Page Index
  Description: Homo sapiens chitobiase, di-N-acetyl- (CTBS), mRNA.
RefSeq Summary (NM_004388): 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]. ##Evidence-Data-START## Transcript exon combination :: AK298703.1, SRR1660809.252331.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000370630.6/ ENSP00000359664.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr1:85,018,804-85,040,163 Size: 21,360 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr1:85,020,682-85,040,098 Size: 19,417 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:85,018,804-85,040,163)mRNA (may differ from genome)Protein (385 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: DIAC_HUMAN
DESCRIPTION: RecName: Full=Di-N-acetylchitobiase; EC=3.2.1.-; Flags: Precursor;
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.
SUBCELLULAR LOCATION: Lysosome.
SIMILARITY: Belongs to the glycosyl hydrolase 18 family.

-  MalaCards Disease Associations
  MalaCards Gene Search: CTBS
Diseases sorted by gene-association score: focal hand dystonia (2), pelizaeus-merzbacher disease (2), hypomyelinating leukodystrophy (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.80 RPKM in Whole Blood
Total median expression: 147.28 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -27.9065-0.429 Picture PostScript Text
3' UTR -377.731878-0.201 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011583 - Chitinase_II
IPR001223 - Glyco_hydro18cat
IPR001579 - Glyco_hydro_18_chit_AS
IPR013781 - Glyco_hydro_catalytic_dom
IPR017853 - Glycoside_hydrolase_SF

Pfam Domains:
PF00704 - Glycosyl hydrolases family 18

SCOP Domains:
51445 - (Trans)glycosidases

ModBase Predicted Comparative 3D Structure on Q01459
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004568 chitinase activity
GO:0008061 chitin binding
GO:0016787 hydrolase activity
GO:0016798 hydrolase activity, acting on glycosyl bonds

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006032 chitin catabolic process
GO:0008152 metabolic process
GO:0009313 oligosaccharide catabolic process

Cellular Component:
GO:0005615 extracellular space
GO:0005764 lysosome


-  Descriptions from all associated GenBank mRNAs
  BC065191 - Homo sapiens chitobiase, di-N-acetyl-, mRNA (cDNA clone IMAGE:5200444), partial cds.
BC024007 - Homo sapiens chitobiase, di-N-acetyl-, mRNA (cDNA clone IMAGE:4823479), complete cds.
BC096752 - Homo sapiens chitobiase, di-N-acetyl-, mRNA (cDNA clone IMAGE:5294956), complete cds.
M95767 - Homo sapiens di-N-acetylchitobiase mRNA, complete cds.
JD231003 - Sequence 212027 from Patent EP1572962.
BC126333 - Homo sapiens chitobiase, di-N-acetyl-, mRNA (cDNA clone MGC:161611 IMAGE:8992049), complete cds.
BC126335 - Homo sapiens chitobiase, di-N-acetyl-, mRNA (cDNA clone MGC:161613 IMAGE:8992051), complete cds.
JD564010 - Sequence 545034 from Patent EP1572962.
AK075423 - Homo sapiens cDNA PSEC0114 fis, clone NT2RP2006543, highly similar to DI-N-ACETYLCHITOBIASE PRECURSOR (EC 3.2.1.-).
AK298703 - Homo sapiens cDNA FLJ55135 complete cds, highly similar to Di-N-acetylchitobiase precursor (EC 3.2.1.-).
JD499206 - Sequence 480230 from Patent EP1572962.
JD188560 - Sequence 169584 from Patent EP1572962.
AK314640 - Homo sapiens cDNA, FLJ95483, highly similar to Homo sapiens chitobiase, di-N-acetyl- (CTBS), mRNA.
CU692842 - Synthetic construct Homo sapiens gateway clone IMAGE:100018486 5' read CTBS mRNA.
KJ901363 - Synthetic construct Homo sapiens clone ccsbBroadEn_10757 CTBS gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: CTB, DIAC_HUMAN, NM_004388, NP_004379, Q01459, Q5VX50
UCSC ID: uc001dka.2
RefSeq Accession: NM_004388
Protein: Q01459 (aka DIAC_HUMAN)
CCDS: CCDS698.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004388.2
exon count: 7CDS single in 3' UTR: no RNA size: 3152
ORF size: 1158CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2507.00frame shift in genome: no % Coverage: 98.38
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.