Aliases for TBCEL Gene

Aliases for TBCEL Gene

  • Tubulin Folding Cofactor E Like 2 3 5
  • Tubulin-Specific Chaperone Cofactor E-Like Protein 3 4
  • Leucine-Rich Repeat-Containing Protein 35 3 4
  • Leucine Rich Repeat Containing 35 2 3
  • Tubulin-Specific Chaperone E-Like 2 3
  • LRRC35 3 4
  • Catastrophin 3
  • MGC10233 2
  • E-Like 3
  • TBCEL 5
  • El 3
  • EL 4

External Ids for TBCEL Gene

Previous HGNC Symbols for TBCEL Gene

  • LRRC35

Previous GeneCards Identifiers for TBCEL Gene

  • GC11P120403
  • GC11P120894
  • GC11P116834

Summaries for TBCEL Gene

GeneCards Summary for TBCEL Gene

TBCEL (Tubulin Folding Cofactor E Like) is a Protein Coding gene. Diseases associated with TBCEL include Megalencephalic Leukoencephalopathy With Subcortical Cysts 2B, Remitting, With Or Without Mental Retardation and Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A. An important paralog of this gene is TBCEL-TECTA.

UniProtKB/Swiss-Prot Summary for TBCEL Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBCEL Gene

Genomics for TBCEL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TBCEL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J121023 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 256.6 +0.3 345 2 ZNF600 MYC POLR2A MXD4 REST SIN3A ETS1 TRIM22 BHLHE40 MBD2 TBCEL HSALNG0087722 TBCEL-TECTA GRIK4 TECTA
GH11J121036 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 256.3 +14.2 14229 7 ZNF600 YY1 FOXA1 FOXA2 RXRA SMAD4 SAP130 RARA TEAD3 THRB TBCEL TECTA TBCEL-TECTA HSALNG0087722
GH11J121087 Promoter 0.3 EPDnew 250.2 +63.1 63086 0.1 TBCEL LOC101929227 TECTA HSALNG0087722 TBCEL-TECTA
GH11J121089 Promoter 0.3 EPDnew 250.2 +65.3 65292 0.1 TBCEL LOC101929227 TECTA HSALNG0087722 TBCEL-TECTA
GH11J120347 Enhancer 1.1 ENCODE dbSUPER 45.9 -676.7 -676715 1.1 ZNF600 ZNF580 ATF2 ZSCAN16 NFIC ZIC2 ZBTB10 YY1 CEBPB FEZF1 TLCD5 TBCEL TECTA ARHGEF12 ENSG00000274303 GRIK4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBCEL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBCEL

Top Transcription factor binding sites by QIAGEN in the TBCEL gene promoter:
  • NF-kappaB
  • NF-kappaB1
  • NRSF form 1
  • NRSF form 2
  • p53

Genomic Locations for TBCEL Gene

Latest Assembly
chr11:121,024,072-121,090,776
(GRCh38/hg38)
Size:
66,705 bases
Orientation:
Plus strand

Previous Assembly
chr11:120,894,811-120,961,485
(GRCh37/hg19 by Entrez Gene)
Size:
66,675 bases
Orientation:
Plus strand

chr11:120,894,781-120,961,484
(GRCh37/hg19 by Ensembl)
Size:
66,704 bases
Orientation:
Plus strand

Genomic View for TBCEL Gene

Genes around TBCEL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBCEL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBCEL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBCEL Gene

Proteins for TBCEL Gene

  • Protein details for TBCEL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5QJ74-TBCEL_HUMAN
    Recommended name:
    Tubulin-specific chaperone cofactor E-like protein
    Protein Accession:
    Q5QJ74
    Secondary Accessions:
    • Q0VAN6

    Protein attributes for TBCEL Gene

    Size:
    424 amino acids
    Molecular mass:
    48195 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TBCEL Gene

Post-translational modifications for TBCEL Gene

  • Ubiquitination at Lys236
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TBCEL Gene

Domains & Families for TBCEL Gene

Gene Families for TBCEL Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TBCEL Gene

InterPro:
Blocks:
  • Ubiquitin domain
  • Leucine-rich repeat signature

Suggested Antigen Peptide Sequences for TBCEL Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ14177 fis, clone NT2RP2003161, highly similar to Tubulin-specific chaperone cofactor E-like protein (B3KNB6_HUMAN)
  • Tubulin folding cofactor E-like (Q0VAN5_HUMAN)
  • Leucine-rich repeat-containing protein 35 (TBCEL_HUMAN)
genes like me logo Genes that share domains with TBCEL: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TBCEL Gene

Function for TBCEL Gene

Molecular function for TBCEL Gene

UniProtKB/Swiss-Prot Function:
Acts as a regulator of tubulin stability.

Phenotypes From GWAS Catalog for TBCEL Gene

Gene Ontology (GO) - Molecular Function for TBCEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0043014 alpha-tubulin binding IBA 21873635
genes like me logo Genes that share ontologies with TBCEL: view
genes like me logo Genes that share phenotypes with TBCEL: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBCEL

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBCEL Gene

Localization for TBCEL Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBCEL Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBCEL gene
Compartment Confidence
cytoskeleton 3
cytosol 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TBCEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with TBCEL: view

Pathways & Interactions for TBCEL Gene

PathCards logo

SuperPathways for TBCEL Gene

No Data Available

Interacting Proteins for TBCEL Gene

Gene Ontology (GO) - Biological Process for TBCEL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IBA 21873635
GO:0007021 tubulin complex assembly IBA 21873635
GO:0007023 post-chaperonin tubulin folding pathway IBA 21873635
genes like me logo Genes that share ontologies with TBCEL: view

No data available for Pathways by source and SIGNOR curated interactions for TBCEL Gene

Drugs & Compounds for TBCEL Gene

No Compound Related Data Available

Transcripts for TBCEL Gene

mRNA/cDNA for TBCEL Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBCEL

Alternative Splicing Database (ASD) splice patterns (SP) for TBCEL Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: -
SP5: -
SP6: - - - - - - -

Relevant External Links for TBCEL Gene

GeneLoc Exon Structure for
TBCEL

Expression for TBCEL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBCEL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Liver (Hepatobiliary System)

Protein differential expression in normal tissues from HIPED for TBCEL Gene

This gene is overexpressed in Testis (6.8) and Prostate (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TBCEL Gene



Protein tissue co-expression partners for TBCEL Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBCEL

SOURCE GeneReport for Unigene cluster for TBCEL Gene:

Hs.504136

mRNA Expression by UniProt/SwissProt for TBCEL Gene:

Q5QJ74-TBCEL_HUMAN
Tissue specificity: Abundantly expressed in testis, but is also present in several tissues at a much lower level.

Evidence on tissue expression from TISSUES for TBCEL Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with TBCEL: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBCEL Gene

Orthologs for TBCEL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TBCEL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TBCEL 29 30
  • 99.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LRRC35 30
  • 99 (a)
OneToOne
TBCEL 29
  • 94.18 (n)
Oppossum
(Monodelphis domestica)
Mammalia TBCEL 30
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia TBCEL 29 30
  • 95.83 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TBCEL 30
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Tbcel 29 16 30
  • 88.92 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tbcel 29
  • 88.21 (n)
Chicken
(Gallus gallus)
Aves TBCEL 29 30
  • 80.42 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TBCEL 30
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tbcel 29
  • 73.9 (n)
Zebrafish
(Danio rerio)
Actinopterygii tbcela 30
  • 66 (a)
OneToMany
tbcelb 29 30
  • 61.78 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG12214 29 30
  • 48.33 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011141 29
  • 48.28 (n)
Worm
(Caenorhabditis elegans)
Secernentea coel-1 29 30
  • 44.23 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PAC2 30
  • 17 (a)
OneToMany
Species where no ortholog for TBCEL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TBCEL Gene

ENSEMBL:
Gene Tree for TBCEL (if available)
TreeFam:
Gene Tree for TBCEL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TBCEL: view image
Alliance of Genome Resources:
Additional Orthologs for TBCEL

Paralogs for TBCEL Gene

Paralogs for TBCEL Gene

genes like me logo Genes that share paralogs with TBCEL: view

Variants for TBCEL Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TBCEL Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TBCEL Gene

Variant ID Type Subtype PubMed ID
esv3627914 CNV loss 21293372
nsv1039908 CNV loss 25217958
nsv524651 CNV loss 19592680

Variation tolerance for TBCEL Gene

Residual Variation Intolerance Score: 28.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.74; 15.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBCEL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBCEL
Leiden Open Variation Database (LOVD)
TBCEL

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBCEL Gene

Disorders for TBCEL Gene

MalaCards: The human disease database

(3) MalaCards diseases for TBCEL Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search TBCEL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TBCEL

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TBCEL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TBCEL Gene

Publications for TBCEL Gene

  1. Identification of a novel tubulin-destabilizing protein related to the chaperone cofactor E. (PMID: 15728251) Bartolini F … Cowan NJ (Journal of cell science 2005) 2 3 4
  2. Identification of 526 conserved metazoan genetic innovations exposes a new role for cofactor E-like in neuronal microtubule homeostasis. (PMID: 24098140) Frédéric MY … Leroux MR (PLoS genetics 2013) 2 3
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for TBCEL Gene

Sources for TBCEL Gene