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

Summary

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

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_000079.7 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Tbce is critical for the maintenance of microtubules in mouse motor axons
Title: A missense mutation in Tbce causes progressive motor neuronopathy in mice.

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Variation

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Alleles

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

Spontaneous (1) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

C80633 (e-PCR)
- UniSTS:160271

158L23-F (e-PCR), detects polymorphism
- UniSTS:228448

299A21-F (e-PCR), detects polymorphism
- UniSTS:228457

332O23-R (e-PCR), detects polymorphism
- UniSTS:228462

D13Uth2 (e-PCR), detects polymorphism
- UniSTS:141965

D13Uth5 (e-PCR), detects polymorphism
- UniSTS:141967

Tbce (e-PCR), detects polymorphism
- UniSTS:228520

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)

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

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

NC_000079.7 Reference GRCm39 C57BL/6J

Range

14172532..14214235 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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