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    Tbce tubulin-specific chaperone E [ Mus musculus (house mouse) ]

    Gene ID: 70430, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Tbceprovided by MGI
    Official Full Name
    tubulin-specific chaperone Eprovided by MGI
    Primary source
    MGI:MGI:1917680
    See related
    Ensembl:ENSMUSG00000039233 AllianceGenome:MGI:1917680
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    pmn; 2610206D02Rik; C530005D02Rik
    Summary
    This gene encodes a tubulin binding cofactor that participates in microtubule dynamics. A mouse model of progressive motor neuropathy (pmn) was discovered to harbor a single amino acid deletion in this gene. Mice that are homozygous for pmn allele exhibit progressive atrophy and premature death due to respiratory failure. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
    Expression
    Broad expression in CNS E14 (RPKM 21.7), CNS E18 (RPKM 21.0) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    13 A1; 13 5.29 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (14172532..14214235, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (13997947..14039650, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene pyruvate kinase, muscle pseudogene Neighboring gene STARR-seq mESC enhancer starr_33706 Neighboring gene STARR-seq mESC enhancer starr_33707 Neighboring gene UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2 Neighboring gene zinc finger and BTB domain containing 7B pseudogene Neighboring gene STARR-seq mESC enhancer starr_33708 Neighboring gene STARR-positive B cell enhancer ABC_E5369 Neighboring gene STARR-positive B cell enhancer ABC_E9866 Neighboring gene STARR-positive B cell enhancer ABC_E32 Neighboring gene geranylgeranyl diphosphate synthase 1 Neighboring gene AT-rich interaction domain 4B Neighboring gene predicted gene, 26129

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Pegylated Insulin-Like Growth Factor 1 attenuates Hair Cell Loss and promotes Presynaptic Maintenance of Medial Olivocochlear Cholinergic Fibers in the Cochlea of the Progressive Motor Neuropathy Mouse. Bieniussa L, et al. Front Neurol, 2022. PMID 35720065, Free PMC Article
    2. Sensory neuropathy in progressive motor neuronopathy (pmn) mice is associated with defects in microtubule polymerization and axonal transport. Schäfer MK, et al. Brain Pathol, 2017 Jul. PMID 27488538, Free PMC Article
    3. Mutation of the TBCE gene causes disturbance of microtubules in the auditory nerve and cochlear outer hair cell degeneration accompanied by progressive hearing loss in the pmn/pmn mouse. Rak K, et al. Exp Neurol, 2013 Dec. PMID 24120439
    4. Therapeutic effects of PEGylated insulin-like growth factor I in the pmn mouse model of motoneuron disease. Jablonka S, et al. Exp Neurol, 2011 Dec. PMID 21963648
    5. Low intensity exercise attenuates disease progression and stimulates cell proliferation in the spinal cord of a mouse model with progressive motor neuronopathy. Ferrer-Alcon M, et al. Neuroscience, 2008 Mar 18. PMID 18295408

    See all (63) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This study reported that reduced expression of the tubulin-specific chaperone TBCE leads to defective microtubule polymerization and impaired microtubule-dependent axonal transport in sensory DRG neurons of pmn mice.
      Title: Sensory neuropathy in progressive motor neuronopathy (pmn) mice is associated with defects in microtubule polymerization and axonal transport.
    2. ARF1/TBCE-mediated cross-talk that coordinates COPI formation and tubulin polymerization at the Golgi.
      Title: Golgi fragmentation in pmn mice is due to a defective ARF1/TBCE cross-talk that coordinates COPI vesicle formation and tubulin polymerization.
    3. We conclude from our study that the mutation of the TBCE gene affects the auditory nerve and the cochlear hair cells simultaneously, leading to progressive hearing loss
      Title: Mutation of the TBCE gene causes disturbance of microtubules in the auditory nerve and cochlear outer hair cell degeneration accompanied by progressive hearing loss in the pmn/pmn mouse.
    4. Tbce is critical for the maintenance of microtubules in mouse motor axons
      Title: A missense mutation in Tbce causes progressive motor neuronopathy in mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables alpha-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables unfolded protein binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within adult locomotory behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within axonogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within developmental growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within microtubule cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in microtubule cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitotic spindle organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within muscle atrophy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within peripheral nervous system neuron axonogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in post-chaperonin tubulin folding pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in post-chaperonin tubulin folding pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within post-embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein folding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in tubulin complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within tubulin complex assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tubulin-specific chaperone E
    Names
    progressive motor neuropathy
    tubulin-folding cofactor E

    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)

    1. NM_178337.3 → NP_848027.1  tubulin-specific chaperone E

      See identical proteins and their annotated locations for NP_848027.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AK082940, AK167383, BC038679
      Consensus CDS
      CCDS26247.1
      UniProtKB/Swiss-Prot
      Q8CIV8
      UniProtKB/TrEMBL
      E0CZ81
      Related
      ENSMUSP00000047880.7, ENSMUST00000039894.13
      Conserved Domains (5) summary
      cd01769
      Location:446 → 522
      UBL; Ubiquitin-like domain of UBL
      smart01052
      Location:10 → 75
      CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network
      COG4886
      Location:154 → 366
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00116
      Location:129 → 286
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:129 → 154
      LRR_RI; leucine-rich repeat [structural motif]

    RNA

    1. NR_130788.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK082940, BC038679, CT009546
      Related
      ENSMUST00000162326.2

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000079.7 Reference GRCm39 C57BL/6J

      Range
      14172532..14214235 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030247407.1 → XP_030103267.1  tubulin-specific chaperone E isoform X2

      Conserved Domains (3) summary
      sd00031
      Location:2 → 25
      LRR_1; leucine-rich repeat [structural motif]
      cd17044
      Location:187 → 269
      Ubl_TBCE; ubiquitin-like (Ubl) domain found in tubulin-folding cofactor E (TBCE) and similar proteins
      cd21340
      Location:18 → 122
      PPP1R42; protein phosphatase 1 regulatory subunit 42

    2. XM_036158163.1 → XP_036014056.1  tubulin-specific chaperone E isoform X2

      Conserved Domains (3) summary
      sd00031
      Location:2 → 25
      LRR_1; leucine-rich repeat [structural motif]
      cd17044
      Location:187 → 269
      Ubl_TBCE; ubiquitin-like (Ubl) domain found in tubulin-folding cofactor E (TBCE) and similar proteins
      cd21340
      Location:18 → 122
      PPP1R42; protein phosphatase 1 regulatory subunit 42

    3. XM_006516775.4 → XP_006516838.1  tubulin-specific chaperone E isoform X2

      See identical proteins and their annotated locations for XP_006516838.1

      Conserved Domains (3) summary
      sd00031
      Location:2 → 25
      LRR_1; leucine-rich repeat [structural motif]
      cd17044
      Location:187 → 269
      Ubl_TBCE; ubiquitin-like (Ubl) domain found in tubulin-folding cofactor E (TBCE) and similar proteins
      cd21340
      Location:18 → 122
      PPP1R42; protein phosphatase 1 regulatory subunit 42

    4. XM_006516773.5 → XP_006516836.1  tubulin-specific chaperone E isoform X1

      Conserved Domains (4) summary
      smart01052
      Location:10 → 67
      CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network
      COG4886
      Location:92 → 304
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:67 → 92
      LRR_RI; leucine-rich repeat [structural motif]
      cd17044
      Location:379 → 461
      Ubl_TBCE; ubiquitin-like (Ubl) domain found in tubulin-folding cofactor E (TBCE) and similar proteins

    RNA

    1. XR_004938072.1 RNA Sequence

    2. XR_003950480.1 RNA Sequence

    3. XR_003950481.1 RNA Sequence

    4. XR_004938071.1 RNA Sequence

    5. XR_873135.3 RNA Sequence

    6. XR_001780813.2 RNA Sequence

    7. XR_004938070.1 RNA Sequence

    8. XR_003950482.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CIV8.1 GenPept UniProtKB/Swiss-Prot:Q8CIV8

    Gene LinkOut

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