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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
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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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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)

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

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