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

TCFL5 Gene

protein-coding   GIFtS: 48
GCID: GC20M061472

transcription factor-like 5 (basic helix-loop-helix)

 Explore 4 diseases affiliated with
TCFL5 via our new
 Human Malady Compendium 
Biological research products
for TCFL5
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Transcription Factor-Like 5 (Basic Helix-Loop-Helix)1 2     Cha Transcription Factor2 3
CHA1 2 3     HPV-16 E2-Binding Protein 12 3
E2BP-11 2 3     HPV-16 E2 Binding Protein 12
Figlb1 2     Transcription Factor-Like 5 Protein2
BHLHe821     E2BP13

External Ids:    HGNC: 116461   Entrez Gene: 107322   Ensembl: ENSG000001011907   OMIM: 6047455   UniProtKB: Q9UL493   

Export aliases for TCFL5 gene to outside databases

Previous GC identifers: GC20M061349 GC20M061309 GC20M062151 GC20M062198 GC20M060942 GC20M058190


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

UniProtKB/Swiss-Prot: TCFL5_HUMAN, Q9UL49
Function: Putative transcription factor. Isoform 3 may play a role in early spermatogenesis




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_018931.1  NC_000020.10  NT_011333.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TCFL5 gene promoter:
         ER-alpha   AML1a   POU3F1   CREB   POU2F1   deltaCREB   POU2F1a   FOXJ2 (long isoform)   SEF-1 (1)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTCFL5 promoter sequence
   Search SABiosciences Chromatin IP Primers for TCFL5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TCFL5


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

Entrez Gene cytogenetic band: 20q13.3-qter   Ensembl cytogenetic band:  20q13.33   HGNC cytogenetic band: 20q13.3-qter

TCFL5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TCFL5 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M061472:  view genomic region     (about GC identifiers)

Start:
61,472,467 bp from pter      End:
61,493,115 bp from pter
Size:
20,649 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TCFL5_HUMAN, Q9UL49 (See protein sequence)
Recommended Name: Transcription factor-like 5 protein  
Size: 500 amino acids; 52697 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein
Subcellular location: Nucleus
Developmental stage: Isoform 3 is specifically expressed in primary spermatocytes at the pachytene stage, but not those
at leptonema stage. Not expressed in other testicular cells, including spermatogonia located in the basal compartment
of the seminiferous tubule or spermatids
Miscellaneous: Antibodies against TCFL5 are present in sera from patients with Chagas' disease, an autoimmune disease
caused by Trypanosoma cruzi. Two different epitopes that mimic Trypanosoma cruzi antigens have been identified: R1 and
R3 epitopes, which are recognized by T- and B-cells, respectively
Sequence caution: Sequence=BAA36557.1; Type=Erroneous initiation;
Secondary accessions: O94771 Q9BYW0
Alternative splicing: 3 isoforms:  Q9UL49-3   Q9UL49-1   Q9UL49-2   

Explore the universe of human proteins at neXtProt for TCFL5: NX_Q9UL49

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UL49

  • TCFL5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006593.2  
    ENSEMBL proteins: 
     ENSP00000334294   ENSP00000217162  

    Human Recombinant Protein Products: 
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    Uscn Proteins for TCFL5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001673male germ cell nucleus IEA--
    GO:0005634nucleus IDA9763657


    TCFL5 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TCFL5 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR011598 HLH_dom

    Graphical View of Domain Structure for InterPro Entry Q9UL49

    ProtoNet protein and cluster: Q9UL49

    1 Blocks protein family: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: TCFL5_HUMAN, Q9UL49
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: TCFL5_HUMAN, Q9UL49
    Function: Putative transcription factor. Isoform 3 may play a role in early spermatogenesis

         Genatlas biochemistry entry for TCFL5:
    transcription factor-like 5,specifically expressed in cell nuclei of primary spermatocytes

    miRNA
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    hsa-miR-577 hsa-miR-144 hsa-miR-875-3p hsa-miR-1265 hsa-miR-96* hsa-miR-16-1* hsa-miR-570 hsa-miR-1289
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCFL5

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA9763657
    GO:0003700sequence-specific DNA binding transcription factor activity TAS9763657
    GO:0046983protein dimerization activity IEA--


    TCFL5 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TCFL5

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for TCFL5 (Q9UL493 ENSP000003342944) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TOPBP1Q925473, ENSP000002608104I2D: score=1 STRING: ENSP00000260810
    USF1P224153, ENSP000003569994I2D: score=1 STRING: ENSP00000356999
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent IDA9763657
    GO:0006366transcription from RNA polymerase II promoter TAS9763657
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis IEP9763657
    GO:0030154cell differentiation IEA--


    TCFL5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 TCFL5
    Search CenterWatch for drugs/clinical trials and news about TCFL5 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TCFL5 gene: 
    NM_006602.2  

    Unigene Cluster for TCFL5:

    Transcription factor-like 5 (basic helix-loop-helix)
    Hs.126248  [show with all ESTs]
    Unigene Representative Sequence: BC065520
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000335351(uc002ydo.3 uc002ydp.3) ENST00000217162(uc002ydq.3)


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    hsa-miR-577 hsa-miR-144 hsa-miR-875-3p hsa-miR-1265 hsa-miR-96* hsa-miR-16-1* hsa-miR-570 hsa-miR-1289
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TCFL5
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    Additional cDNA sequence: 

    AB012124.1 AF070992.1 BC015689.2 BC046933.1 BC065520.1 

    13 DOTS entries:

    DT.75107208  DT.100775935  DT.402827  DT.91958693  DT.97834961  DT.100775939  DT.414372  DT.40211115 
    DT.86858197  DT.92015104  DT.97774279  DT.100746963  DT.86855476 

    24/136 AceView cDNA sequences (see all 136):

    BX282585 AI222718 CA419503 AI884611 BU739535 BQ448177 BU741548 BQ718487 
    AW337242 AI870834 BQ428510 BE302044 CA431192 BU617805 BM769730 AW451768 
    BQ709994 AL040903 AA398861 BQ637205 NM_006602 AB012124 CA417679 AI285255 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for TCFL5    About this scheme

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


    ECgene alternative splicing isoforms for TCFL5

    (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

    TCFL5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See TCFL5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TCFL5

    SOURCE GeneReport for Unigene cluster: Hs.126248

    UniProtKB/Swiss-Prot: TCFL5_HUMAN, Q9UL49
    Tissue specificity: Isoform 3 is testis specific. Isoform 2 is pancreas specific

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    (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 eukaryotes.

    Orthologs for TCFL5 gene from 4/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tcfl51 , 5 transcription factor-like 5 (basic helix-loop-helix)1, 5 88.36(n)1
    89.94(a)1
      2 (103.16 cM)5
    2773531  NM_178254.31  NP_839985.21 
     1806219565 
    chicken
    (Gallus gallus)
    Aves TCFL51 transcription factor-like 5 (basic helix-loop-helix) 67.23(n)
    62.87(a)
      771446  XM_001234726.1  XP_001234727.1 
    lizard
    (Anolis carolinensis)
    Reptilia TCFL56
    --
    62(a)
    1 ↔ 1
    4(152496630-152508354)
    rice
    (Oryza sativa)
    Liliopsida AK106036.12   -- 70.39(n)    AK106036.1 


    ENSEMBL Gene Tree for TCFL5 (if available)
    TreeFam Gene Tree for TCFL5 (if available) 

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/518 NCBI SNPs in TCFL5 are shown (see all 518    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1426251111,2
    C,--61473016(+) AAGTT-/AATCAT 1 -- ut310--------
    rs1380094101,2
    --61473220(+) GTCACA/GCCCTT 1 -- ut310--------
    rs801854251,2
    C,--61473270(+) AGGCGT/-TGCAC 1 -- ut311Minor allele frequency- -:0.00CSA 2
    rs1996680831,2
    --61473282(+) GGTCAC/TGAAGG 1 -- ut310--------
    rs2019113161,2
    --61473292(+) GAATGG/TCTGTT 1 -- ut310--------
    rs2010565731,2
    --61473394(+) AGTCCA/GGTCTG 2 P L mis10--------
    rs81848061,2
    H--61473521(+) GCAAAA/GGGTTC 1 -- int14Minor allele frequency- G:0.00NS EA 398
    rs107082111,2
    C,F--61473633(+) TTAACT/-TTTTT 1 -- int1 trp34Minor allele frequency- -:0.25NA CSA 8
    rs1495222721,2
    --61473666(+) GTACAA/TGTACT 1 -- int10--------
    rs19805001,2
    C,F,A,--61473841(+) GGGCGT/CGGCGG 1 -- int19Minor allele frequency- C:0.26NA WA CSA EA 369

    HapMap Linkage Disequilibrium report for TCFL5 (61472467 - 61493115 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for TCFL5
         1 CNV: 31044

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TCFL5 for disorders           About GeneDecksing

    OMIM gene information: 604745    OMIM disorders: --

    4 diseases for TCFL5:    About MalaCards
    chagas disease    colon carcinoma    cholangiocarcinoma    carcinoma


    Export disorders for TCFL5 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 TCFL5 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TCFL5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of TCFL5 encoding a novel human basic helix-loop-helix motif protein that is specifically expressed in primary spermatocytes at the pachytene stage. (PubMed id 9763657)1, 2, 3, 9 Maruyama O.... Nakamura Y. (1998)
    2. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    3. Dominant T- and B-cell epitopes in an autoantigen linked to Chagas' disease. (PubMed id 11306602)1, 2 Girones N.... Fresno M. (2001)
    4. Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. (PubMed id 22360420)1 Martins-de-Souza D....Bahn S. (2012)
    5. Regulation of TopBP1 oligomerization by Akt/PKB for c ell survival. (PubMed id 17006541)1 Liu K....Lin W.C. (2006)
    6. Cha, a basic helix-loop-helix transcription factor involved in the regulation of upstream stimulatory factor activity. (PubMed id 12923186)1 Rodriguez C.I....Fresno M. (2003)
    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. Identification of differentially expressed genes involved in the formation of multicellular tumor spheroids by HT-29 colon carcinoma cells. (PubMed id 17164780)9 Dardousis K....Sachinidis A. (2007)

    (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: 10732 HGNC: 11646 AceView: TCFL5 Ensembl:ENSG00000101190 euGenes: HUgn10732
    ECgene: TCFL5 H-InvDB: TCFL5

    (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 TCFL5 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 TCFL5 gene:
    Search GeneIP for patents involving TCFL5

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



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    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
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