CTBS chitobiase [Homo sapiens (human)] - Gene

Summary

Official Symbol: CTBSprovided by HGNC
Official Full Name: chitobiaseprovided by HGNC
Primary source: HGNC:HGNC:2496
See related: Ensembl:ENSG00000117151 MIM:600873; AllianceGenome:HGNC:2496
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CTB
Summary: 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]
Expression: Ubiquitous expression in prostate (RPKM 12.0), liver (RPKM 10.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p22.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (84549611..84574440, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (84389989..84414814, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (85015294..85040123, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data indicate that infliximab changes the concentration of hexosaminidase (N-acetyl-beta-glucosaminidase; HEX) activity depending on the drug dose and time of administration.
Title: Fibroblast-Like Synovial Cells in Rheumatoid Arthritis--the Impact of Infliximab on Hexosaminidase Activity.
biochemical behavior of di-N-acetylchitobiase indicates it has three subsites, -2, -1, +1, in which the reducing-end trimer of any sized chitooligosaccharide is bound. The +1 site is specific for an alpha-anomer.
Title: Optimum substrate size and specific anomer requirements for the reducing-end glycoside hydrolase di-N-acetylchitobiase.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-11830 (e-PCR)
- UniSTS:25904

NoName (e-PCR)
- UniSTS:495172

SHGC-75075 (e-PCR)
- UniSTS:74828

NoName (e-PCR)
- UniSTS:486995

RH17760 (e-PCR)
- UniSTS:63087

RH70725 (e-PCR)
- UniSTS:56702

SHGC-75066 (e-PCR)
- UniSTS:59538

SHGC-12406 (e-PCR)
- UniSTS:8340

CTBS__4649 (e-PCR)
- UniSTS:463575

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chitin binding	IEA Inferred from Electronic Annotation more info
enables chitinase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in chitin catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in oligosaccharide catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in extracellular space	HDA more info	PubMed
located_in lysosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: di-N-acetylchitobiase

Names: chitobiase, di-N-acetyl-

NP_004379.1

EC 3.2.1.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_004388.3 → NP_004379.1 di-N-acetylchitobiase precursor

See identical proteins and their annotated locations for NP_004379.1

Status: VALIDATED

Source sequence(s)

AI339601, AL359762, BC065191, BC126335

Consensus CDS

CCDS698.1

UniProtKB/Swiss-Prot

Q01459, Q5VX50

UniProtKB/TrEMBL

B2RBF5

Related

ENSP00000359664.4, ENST00000370630.6

Conserved Domains (2) summary

cd02875
Location:39 → 378

GH18_chitobiase; Chitobiase (also known as di-N-acetylchitobiase) is a lysosomal glycosidase that hydrolyzes the reducing-end N-acetylglucosamine from the chitobiose core of oligosaccharides during the ordered degradation of asparagine-linked glycoproteins in eukaryotes. ...

smart00636
Location:115 → 358

Glyco_18; Glyco_18 domain