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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TBCEL Gene

protein-coding   GIFtS: 47
GCID: GC11P120894

Tubulin Folding Cofactor E-Like

(Previous names: leucine rich repeat containing 35, tubulin-specific chaperone...)
(Previous symbol: LRRC35)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Tubulin Folding Cofactor E-Like1 2     E-like2
LRRC351 2 3     El2
Leucine Rich Repeat Containing 351 2     catastrophin2
Tubulin-Specific Chaperone E-Like1 2     Tubulin-Specific Chaperone Cofactor E-Like Protein2
Leucine-Rich Repeat-Containing Protein 352 3     EL3

External Ids:    HGNC: 281151   Entrez Gene: 2198992   Ensembl: ENSG000001541147   OMIM: 6104515   UniProtKB: Q5QJ743   

Export aliases for TBCEL gene to outside databases

Previous GC identifers: GC11P120403 GC11P116834


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for TBCEL Gene: 
TBCEL (tubulin folding cofactor E-like) is a protein-coding gene. Diseases associated with TBCEL include leukemia. An important paralog of this gene is TBCE.

UniProtKB/Swiss-Prot: TBCEL_HUMAN, Q5QJ74
Function: Acts as a regulator of tubulin stability




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_033899.8  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBCEL gene promoter:
         p53   NRSF form 1   NF-kappaB1   NF-kappaB   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBCEL promoter sequence
   Search SABiosciences Chromatin IP Primers for TBCEL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBCEL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q23.3   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23.3

TBCEL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBCEL gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P120894:  view genomic region     (about GC identifiers)

Start:
120,894,781 bp from pter      End:
120,961,484 bp from pter
Size:
66,704 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TBCEL_HUMAN, Q5QJ74 (See protein sequence)
Recommended Name: Tubulin-specific chaperone cofactor E-like protein  
Size: 424 amino acids; 48195 Da
Subcellular location: Cytoplasm, cytoskeleton (Probable)
Secondary accessions: Q0VAN6

Explore the universe of human proteins at neXtProt for TBCEL: NX_Q5QJ74

Explore proteomics data for TBCEL at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5QJ74

  • TBCEL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBCEL Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001123519.1  NP_689928.3  

    ENSEMBL proteins: 
     ENSP00000437184   ENSP00000284259   ENSP00000431803   ENSP00000433365   ENSP00000403925  
     ENSP00000431156   ENSP00000432783   ENSP00000436419  

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    Novus Biologicals TBCEL Protein
    Novus Biologicals TBCEL Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for TBCEL
    Cloud-Clone Corp. Proteins for TBCEL 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--

    TBCEL for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for TBCEL 
    Cloud-Clone Corp. CLIAs for TBCEL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR019955 Ubiquitin_supergroup

    Graphical View of Domain Structure for InterPro Entry Q5QJ74

    ProtoNet protein and cluster: Q5QJ74

    2 Blocks protein domains:
    IPB000626 Ubiquitin domain
    IPB001611 Leucine-rich repeat signature


    UniProtKB/Swiss-Prot: TBCEL_HUMAN, Q5QJ74
    Similarity: Contains 7 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRCT domain
    Similarity: Contains 1 ubiquitin-like domain


    TBCEL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBCEL_HUMAN, Q5QJ74
    Function: Acts as a regulator of tubulin stability

    Animal Models:

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TBCEL 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TBCEL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TBCEL 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TBCEL 

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    SwitchGear 3'UTR luciferase reporter plasmidTBCEL 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBCEL


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBCEL

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TBCEL

    Search CenterWatch for drugs/clinical trials and news about TBCEL

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TBCEL gene (2 alternative transcripts): 
    NM_001130047.1  NM_152715.3  

    Unigene Cluster for TBCEL:

    Tubulin folding cofactor E-like
    Hs.504136  [show with all ESTs]
    Unigene Representative Sequence: NM_152715
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000529397 ENST00000284259 ENST00000528512 ENST00000531148 ENST00000422003(uc009zay.3 uc001pxo.3 uc001pxp.3 uc001pxq.3)
    ENST00000533712 ENST00000524726 ENST00000530362 ENST00000533134 ENST00000533169

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBCEL
    8/40 QIAGEN miScript miRNA Assays for microRNAs that regulate TBCEL (see all 40):
    hsa-miR-136 hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-3616-5p hsa-miR-519a hsa-miR-4275 hsa-miR-105
    SwitchGear 3'UTR luciferase reporter plasmidTBCEL 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBCEL
    Clone
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    OriGene clones in human, mouse for TBCEL (see all 13)
    OriGene ORF clones in mouse, rat for TBCEL
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    Sirion Biotech Customized lentivirus for stable overexpression of TBCEL 
                         Customized lentivirus expression plasmids for stable overexpression of TBCEL 
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    OriGene qPCR primer pairs and template standards for TBCEL
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBCEL

    Additional mRNA sequence: 

    AK024239.1 AK295673.1 AK313324.1 AY398644.1 BC020501.1 BC120988.1 BC120989.1 

    6 DOTS entries:

    DT.446404  DT.412432  DT.95367827  DT.92038208  DT.97813987  DT.99965230 

    24/109 AceView cDNA sequences (see all 109):

    CK818750 AW594566 BM126946 BM672023 AI569190 AK095817 AI884394 AI359838 
    AI570238 AL041380 AW451951 BC020501 AI653257 BX281438 CA389856 AA041434 
    AI655722 AI754986 AI200940 AA860959 AW117238 BI833150 H98807 BQ890649 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TBCEL (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for TBCEL

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TBCEL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTACTTATA
    TBCEL Expression
    About this image


    See TBCEL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBCEL

    SOURCE GeneReport for Unigene cluster: Hs.504136

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

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBCEL

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for TBCEL gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbcel1 , 5 tubulin folding cofactor E-like1, 5 88.92(n)1
    97.41(a)1
      9 (23.71 cM)5
    2725891  NM_173038.31  NP_766626.11 
     424123165 
    chicken
    (Gallus gallus)
    Aves TBCEL1 tubulin folding cofactor E-like 80.42(n)
    89.39(a)
      429536  XM_427094.2  XP_427094.2 
    lizard
    (Anolis carolinensis)
    Reptilia TBCEL6
    Uncharacterized protein
    89(a)
    1 ↔ 1
    LGa(2114522-2139103)
    zebrafish
    (Danio rerio)
    Actinopterygii BM342099.12   -- 73.99(n)    BM342099.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG122141 CG12214 49.34(n)
    43.31(a)
      36072  NM_165754.1  NP_724901.1 
    worm
    (Caenorhabditis elegans)
    Secernentea coel-11 Protein COEL-1 44.23(n)
    31.87(a)
      180700  NM_171665.2  NP_741764.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PAC26
    Microtubule effector required for tubulin heterodi...
    16(a)
    1 → many
    V(164527-166083)


    ENSEMBL Gene Tree for TBCEL (if available)
    TreeFam Gene Tree for TBCEL (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBCEL gene
    TBCE2  

    TBCEL for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1253 SNPs in TBCEL are shown (see all 1253)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1122253611,2
    C,F--120892842(+) CTGGTG/AGGGAC 2 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs801636931,2
    F--120892933(+) GCCAAC/TCAGCA 2 -- us2k12Minor allele frequency- T:0.50NA 4
    rs1897463791,2
    --120892958(+) CAGGAG/TTTGTG 2 -- us2k10--------
    rs1821698891,2
    --120893035(+) CTCTGG/TATCTA 2 -- us2k10--------
    rs112181141,2
    C,F--120893054(+) GGTGGG/AGAGGT 2 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1864832931,2
    --120893150(+) GGATGC/TGGGTG 2 -- us2k10--------
    rs112181151,2
    C--120893187(+) CTGCCC/AGAGCC 2 -- us2k1 tfbs31Minor allele frequency- A:0.00NA 2
    rs1913644971,2
    --120893217(+) GGTCCC/TTTTCC 2 -- us2k10--------
    rs1828321931,2
    --120893279(+) TCACTC/TTTTGG 2 -- us2k10--------
    rs1887463901,2
    --120893338(+) CTTCAC/GTCCGG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for TBCEL (120894781 - 120961484 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TBCEL:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv524651CNV Loss19592680

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610451    OMIM disorders: --

    2 diseases for TBCEL:    About MalaCards
    leukemia    


    TBCEL for disorders           About GeneDecksing

    Genetic Association Database (GAD): TBCEL
    Human Genome Epidemiology (HuGE) Navigator: TBCEL (1 document)

    Export disorders for TBCEL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TBCEL gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TBCEL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel tubulin-destabilizing protein related to the chaperone cofactor E. (PubMed id 15728251)1, 2, 3 Bartolini F....Cowan N.J. (2005)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    5. Op18/Stathmin counteracts the activity of overexpressed tubulin-disrupting proteins in a human leukemia cell line. (PubMed id 18262179)1 Sellin M.E....Gullberg M. (2008)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    8. Possible regulation of microtubules through destabilization of tubulin. (PubMed id 16202601)9 Keller C.E. and Lauring B.P. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 219899 HGNC: 28115 AceView: MGC10233 Ensembl:ENSG00000154114 euGenes: HUgn219899
    ECgene: TBCEL H-InvDB: TBCEL

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TBCEL Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TBCEL gene:
    Search GeneIP for patents involving TBCEL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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