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    TBCEL tubulin folding cofactor E like [ Homo sapiens (human) ]

    Gene ID: 219899, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TBCELprovided by HGNC
    Official Full Name
    tubulin folding cofactor E likeprovided by HGNC
    Primary source
    HGNC:HGNC:28115
    See related
    Ensembl:ENSG00000154114 MIM:610451; AllianceGenome:HGNC:28115
    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
    El; LRRC35
    Summary
    Predicted to enable alpha-tubulin binding activity. Predicted to be involved in microtubule cytoskeleton organization; post-chaperonin tubulin folding pathway; and tubulin complex assembly. Predicted to be located in cytoskeleton. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 8.9), thyroid (RPKM 6.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TBCEL in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (121024102..121090776)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (121047848..121114522)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (120894811..120961485)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene glutamate ionotropic receptor kainate type subunit 4 Neighboring gene uncharacterized LOC101929208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:120826209-120826709 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:120829234-120829455 Neighboring gene high mobility group box 1 pseudogene 42 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3997 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3999 Neighboring gene TBCEL-TECTA readthrough Neighboring gene HNF4 motif-containing MPRA enhancer 256 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121000154-121001353 Neighboring gene tectorin alpha Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:121083583-121084082 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:121106857-121107396 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:121107397-121107936 Neighboring gene uncharacterized LOC105369533 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:121107937-121108476 Neighboring gene TRPC6 pseudogene 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Identification of a novel tubulin-destabilizing protein related to the chaperone cofactor E. Bartolini F, et al. J Cell Sci, 2005 Mar 15. PMID 15728251
    2. Identification of 526 conserved metazoan genetic innovations exposes a new role for cofactor E-like in neuronal microtubule homeostasis. Frédéric MY, et al. PLoS Genet, 2013. PMID 24098140, Free PMC Article
    3. Op18/Stathmin counteracts the activity of overexpressed tubulin-disrupting proteins in a human leukemia cell line. Sellin ME, et al. Exp Cell Res, 2008 Apr 1. PMID 18262179
    4. Mutual regulation between OGT and XIAP to control colon cancer cell growth and invasion. Seo HG, et al. Cell Death Dis, 2020 Sep 29. PMID 32994395, Free PMC Article
    5. Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. Antoniali G, et al. Nat Commun, 2017 Oct 6. PMID 28986522, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Depletion of Op18 by means of RNA interference increased the susceptibility of tubulin to TBCE or E-like mediated disruption, while overexpressed Op18 exerted a tubulin-protective effect.
      Title: Op18/Stathmin counteracts the activity of overexpressed tubulin-disrupting proteins in a human leukemia cell line.
    3. Leucine rich repeat containing 35 (E-like) is a novel regulator of tubulin stability with overexpression causing depolymerization of microtubules and suppression resulting in an increase in the number of stable microtubules.
      Title: Identification of a novel tubulin-destabilizing protein related to the chaperone cofactor E.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough TBCEL-TECTA

    Readthrough gene: TBCEL-TECTA, Included gene: TECTA

    Homology

    Clone Names

    • FLJ14177, MGC10233

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in post-chaperonin tubulin folding pathway IBA
    Inferred from Biological aspect of Ancestor
    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 cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    tubulin-specific chaperone cofactor E-like protein
    Names
    E-like
    catastrophin
    leucine rich repeat containing 35
    leucine-rich repeat-containing protein 35
    tubulin-specific chaperone e-like

    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_001130047.3 → NP_001123519.1  tubulin-specific chaperone cofactor E-like protein

      See identical proteins and their annotated locations for NP_001123519.1

      Status: VALIDATED

      Source sequence(s)
      AP000646, AP001929
      Consensus CDS
      CCDS31692.1
      UniProtKB/Swiss-Prot
      Q0VAN6, Q5QJ74
      UniProtKB/TrEMBL
      Q0VAN5
      Related
      ENSP00000437184.1, ENST00000529397.5
      Conserved Domains (4) summary
      COG4886
      Location:47 → 225
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:52 → 75
      LRR_RI; leucine-rich repeat [structural motif]
      pfam14580
      Location:191 → 304
      LRR_9; Leucine-rich repeat
      cl00155
      Location:345 → 419
      UBQ; Ubiquitin-like proteins

    2. NM_001363644.2 → NP_001350573.1  tubulin-specific chaperone cofactor E-like protein

      Status: VALIDATED

      Source sequence(s)
      AP000646, AP001929
      Consensus CDS
      CCDS31692.1
      UniProtKB/Swiss-Prot
      Q0VAN6, Q5QJ74
      UniProtKB/TrEMBL
      Q0VAN5
      Related
      ENSP00000507873.1, ENST00000683345.1
      Conserved Domains (4) summary
      COG4886
      Location:47 → 225
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:52 → 75
      LRR_RI; leucine-rich repeat [structural motif]
      pfam14580
      Location:191 → 304
      LRR_9; Leucine-rich repeat
      cl00155
      Location:345 → 419
      UBQ; Ubiquitin-like proteins

    3. NM_152715.5 → NP_689928.3  tubulin-specific chaperone cofactor E-like protein

      See identical proteins and their annotated locations for NP_689928.3

      Status: VALIDATED

      Source sequence(s)
      AP000646, AP001929
      Consensus CDS
      CCDS31692.1
      UniProtKB/Swiss-Prot
      Q0VAN6, Q5QJ74
      UniProtKB/TrEMBL
      Q0VAN5
      Related
      ENSP00000403925.2, ENST00000422003.6
      Conserved Domains (4) summary
      COG4886
      Location:47 → 225
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:52 → 75
      LRR_RI; leucine-rich repeat [structural motif]
      pfam14580
      Location:191 → 304
      LRR_9; Leucine-rich repeat
      cl00155
      Location:345 → 419
      UBQ; Ubiquitin-like proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      121024102..121090776
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      121047848..121114522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5QJ74.2 GenPept UniProtKB/Swiss-Prot:Q5QJ74

    Gene LinkOut

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

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