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

Gene ID: 70430, updated on 8-Feb-2024

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
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Genomic context

See Tbce in Genome Data Viewer
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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables alpha-tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables alpha-tubulin binding IEA
Inferred from Electronic Annotation
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 cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_178337.3NP_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:446522
    UBL; Ubiquitin-like domain of UBL
    smart01052
    Location:1075
    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:154366
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00116
    Location:129286
    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:129154
    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_030247407.1XP_030103267.1  tubulin-specific chaperone E isoform X2

    Conserved Domains (3) summary
    sd00031
    Location:225
    LRR_1; leucine-rich repeat [structural motif]
    cd17044
    Location:187269
    Ubl_TBCE; ubiquitin-like (Ubl) domain found in tubulin-folding cofactor E (TBCE) and similar proteins
    cd21340
    Location:18122
    PPP1R42; protein phosphatase 1 regulatory subunit 42
  2. XM_036158163.1XP_036014056.1  tubulin-specific chaperone E isoform X2

    Conserved Domains (3) summary
    sd00031
    Location:225
    LRR_1; leucine-rich repeat [structural motif]
    cd17044
    Location:187269
    Ubl_TBCE; ubiquitin-like (Ubl) domain found in tubulin-folding cofactor E (TBCE) and similar proteins
    cd21340
    Location:18122
    PPP1R42; protein phosphatase 1 regulatory subunit 42
  3. XM_006516775.4XP_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:225
    LRR_1; leucine-rich repeat [structural motif]
    cd17044
    Location:187269
    Ubl_TBCE; ubiquitin-like (Ubl) domain found in tubulin-folding cofactor E (TBCE) and similar proteins
    cd21340
    Location:18122
    PPP1R42; protein phosphatase 1 regulatory subunit 42
  4. XM_006516773.5XP_006516836.1  tubulin-specific chaperone E isoform X1

    Conserved Domains (4) summary
    smart01052
    Location:1067
    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:92304
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:6792
    LRR_RI; leucine-rich repeat [structural motif]
    cd17044
    Location:379461
    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