U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    Tbce tubulin folding cofactor E [ Rattus norvegicus (Norway rat) ]

    Gene ID: 361255, updated on 2-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    Tbceprovided by RGD
    Official Full Name
    tubulin folding cofactor Eprovided by RGD
    Primary source
    RGD:1305533
    See related
    EnsemblRapid:ENSRNOG00000029667 AllianceGenome:RGD:1305533
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable alpha-tubulin binding activity. Predicted to be involved in mitotic spindle organization; post-chaperonin tubulin folding pathway; and tubulin complex assembly. Predicted to act upstream of or within several processes, including adult locomotory behavior; muscle atrophy; and peripheral nervous system neuron axonogenesis. Predicted to be located in cytoskeleton. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in Kenny-Caffey syndrome type 1; hypoparathyroidism; and hypoparathyroidism-retardation-dysmorphism syndrome. Orthologous to human TBCE (tubulin folding cofactor E). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Adrenal (RPKM 226.7), Thymus (RPKM 220.4) and 9 other tissues See more
    Orthologs
    human mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See Tbce in Genome Data Viewer
    Location:
    17q12.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 17 NC_086035.1 (55983627..56031578)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 17 NC_051352.1 (51290143..51336090)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 17 NC_005116.4 (53983126..54029028)

    Chromosome 17 - NC_086035.1Genomic Context describing neighboring genes Neighboring gene AT-rich interaction domain 4B Neighboring gene geranylgeranyl diphosphate synthase 1 Neighboring gene beta-1,3-N-acetylgalactosaminyltransferase 2 Neighboring gene ribosomal protein S19 like 4 Neighboring gene uncharacterized LOC134482723 Neighboring gene kinesin family member 5B

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy. Sferra A, et al. Am J Hum Genet, 2016 Oct 6. PMID 27666369, Free PMC Article
    2. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Parvari R, et al. Nat Genet, 2002 Nov. PMID 12389028
    3. A missense mutation in Tbce causes progressive motor neuronopathy in mice. Martin N, et al. Nat Genet, 2002 Nov. PMID 12389029
    4. Bcl-2 overexpression prevents motoneuron cell body loss but not axonal degeneration in a mouse model of a neurodegenerative disease. Sagot Y, et al. J Neurosci, 1995 Nov. PMID 7472523, Free PMC Article
    5. Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C. Bartolini F, et al. J Biol Chem, 2002 Apr 26. PMID 11847227

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • MGC108815

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables alpha-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within adult locomotory behavior ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within axonogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in developmental growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within developmental growth ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within microtubule cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in microtubule cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in microtubule cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitotic spindle organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic spindle organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitotic spindle organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in muscle atrophy IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within muscle atrophy ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in peripheral nervous system neuron axonogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within peripheral nervous system neuron axonogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in post-chaperonin tubulin folding pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in post-chaperonin tubulin folding pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in post-chaperonin tubulin folding pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in post-chaperonin tubulin folding pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within post-embryonic development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in tubulin complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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

    Go to the top of the page Help
    Preferred Names
    tubulin-specific chaperone E

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_001012161.1 → NP_001012161.1  tubulin-specific chaperone E

      See identical proteins and their annotated locations for NP_001012161.1

      Status: PROVISIONAL

      Source sequence(s)
      BC089833
      UniProtKB/Swiss-Prot
      Q5FVQ9
      UniProtKB/TrEMBL
      A0A8I5ZRE1, A6K9D0
      Related
      ENSRNOP00000042689.4, ENSRNOT00000040743.6
      Conserved Domains (5) summary
      smart01052
      Location:10 → 73
      CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network
      sd00033
      Location:156 → 180
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:129 → 142
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam13855
      Location:230 → 287
      LRR_8; Leucine rich repeat
      cl00155
      Location:443 → 522
      UBQ; Ubiquitin-like proteins

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086035.1 Reference GRCr8

      Range
      55983627..56031578
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006254015.5 → XP_006254077.1  tubulin-specific chaperone E isoform X3

      See identical proteins and their annotated locations for XP_006254077.1

      UniProtKB/TrEMBL
      A0A8I5ZRE1
      Conserved Domains (4) summary
      smart01052
      Location:10 → 73
      CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network
      sd00033
      Location:156 → 180
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:129 → 142
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam13855
      Location:230 → 287
      LRR_8; Leucine rich repeat

    2. XM_063276619.1 → XP_063132689.1  tubulin-specific chaperone E isoform X1

      Related
      ENSRNOP00000099959.1, ENSRNOT00000150216.1

    3. XM_063276620.1 → XP_063132690.1  tubulin-specific chaperone E isoform X2

      UniProtKB/TrEMBL
      A0A0G2K191
      Related
      ENSRNOP00000071747.1, ENSRNOT00000079433.3

    4. XM_063276622.1 → XP_063132692.1  tubulin-specific chaperone E isoform X4

    5. XM_063276623.1 → XP_063132693.1  tubulin-specific chaperone E isoform X5

    6. XM_063276621.1 → XP_063132691.1  tubulin-specific chaperone E isoform X2

      UniProtKB/TrEMBL
      A0A0G2K191

    7. XM_017600614.3 → XP_017456103.1  tubulin-specific chaperone E isoform X3

      UniProtKB/TrEMBL
      A0A8I5ZRE1
      Conserved Domains (4) summary
      smart01052
      Location:10 → 73
      CAP_GLY; Cytoskeleton-associated proteins (CAPs) are involved in the organisation of microtubules and transportation of vesicles and organelles along the cytoskeletal network
      sd00033
      Location:156 → 180
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:129 → 142
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam13855
      Location:230 → 287
      LRR_8; Leucine rich repeat

    8. XM_039095911.1 → XP_038951839.1  tubulin-specific chaperone E isoform X6

      Conserved Domains (3) summary
      sd00033
      Location:4 → 28
      LRR_RI; leucine-rich repeat [structural motif]
      cd17044
      Location:289 → 342
      Ubl_TBCE; ubiquitin-like (Ubl) domain found in tubulin-folding cofactor E (TBCE) and similar proteins
      cd21340
      Location:80 → 224
      PPP1R42; protein phosphatase 1 regulatory subunit 42
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5FVQ9.1 GenPept UniProtKB/Swiss-Prot:Q5FVQ9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools