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Q9UL49

- TCFL5_HUMAN

UniProt

Q9UL49 - TCFL5_HUMAN

Protein

Transcription factor-like 5 protein

Gene

TCFL5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 120 (01 Oct 2014)
      Sequence version 2 (15 Jan 2008)
      Previous versions | rss
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    Functioni

    Putative transcription factor. Isoform 3 may play a role in early spermatogenesis.1 Publication

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB
    2. sequence-specific DNA binding transcription factor activity Source: ProtInc

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. multicellular organismal development Source: UniProtKB-KW
    3. regulation of cell differentiation Source: UniProtKB
    4. regulation of cell proliferation Source: UniProtKB
    5. regulation of transcription, DNA-templated Source: UniProtKB
    6. spermatogenesis Source: UniProtKB
    7. transcription from RNA polymerase II promoter Source: ProtInc

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Spermatogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiQ9UL49.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transcription factor-like 5 protein
    Alternative name(s):
    Cha transcription factor
    HPV-16 E2-binding protein 1
    Short name:
    E2BP-1
    Gene namesi
    Name:TCFL5
    Synonyms:CHA, E2BP1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:11646. TCFL5.

    Subcellular locationi

    Nucleus 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. male germ cell nucleus Source: Ensembl
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA36398.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 500500Transcription factor-like 5 proteinPRO_0000127475Add
    BLAST

    Proteomic databases

    PaxDbiQ9UL49.
    PRIDEiQ9UL49.

    PTM databases

    PhosphoSiteiQ9UL49.

    Expressioni

    Tissue specificityi

    Isoform 3 is testis specific. Isoform 2 is pancreas specific.1 Publication

    Developmental stagei

    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.1 Publication

    Gene expression databases

    ArrayExpressiQ9UL49.
    BgeeiQ9UL49.
    CleanExiHS_TCFL5.
    GenevestigatoriQ9UL49.

    Organism-specific databases

    HPAiHPA055223.

    Interactioni

    Subunit structurei

    Efficient DNA binding requires dimerization with another bHLH protein.

    Protein-protein interaction databases

    BioGridi115955. 1 interaction.
    STRINGi9606.ENSP00000334294.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UL49.
    SMRiQ9UL49. Positions 398-452.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini400 – 45051bHLHPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni347 – 35610R3 epitope (recognized by Chagas's antibodies)
    Regioni481 – 50020R1 epitope (recognized by Chagas's antibodies)Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi67 – 182116Ala-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG28448.
    HOGENOMiHOG000231268.
    HOVERGENiHBG067309.
    InParanoidiQ9UL49.
    KOiK09092.
    OMAiDRFNSIQ.
    OrthoDBiEOG7CK36S.
    PhylomeDBiQ9UL49.
    TreeFamiTF336112.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR011598. bHLH_dom.
    [Graphical view]
    PfamiPF00010. HLH. 1 hit.
    [Graphical view]
    SMARTiSM00353. HLH. 1 hit.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    PROSITEiPS50888. BHLH. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 3 (identifier: Q9UL49-3) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSGPGPREPP PEAGAAGGEA AVEGAGGGDA ALGEPGLSFT TTDLSLVEMT    50
    EVEYTQLQHI LCSHMEAAAD GELETRLNSA LLAAAGPGAG AGGFAAGGQG 100
    GAAPVYPVLC PSALAADAPC LGHIDFQELR MMLLSEAGAA EKTSGGGDGA 150
    RARADGAAKE GAGAAAAAAG PDGAPEARAK PAVRVRLEDR FNSIPAEPPP 200
    APRGPEPPEP GGALNNLVTL IRHPSELMNV PLQQQNKCTA LVKNKTAATT 250
    TALQFTYPLF TTNACSTSGN SNLSQTQSSS NSCSVLEAAK HQDIGLPRAF 300
    SFCYQQEIES TKQTLGSRNK VLPEQVWIKV GEAALCKQAL KRNRSRMRQL 350
    DTNVERRALG EIQNVGEGAT ATQGAWQSSE SSQANLGEQA QSGPQGGRSQ 400
    RRERHNRMER DRRRRIRICC DELNLLVPFC NAETDKATTL QWTTAFLKYI 450
    QERHGDSLKK EFESVFCGKT GRRLKLTRPD SLVTCPAQGS LQSSPSMEIK 500
    Length:500
    Mass (Da):52,697
    Last modified:January 15, 2008 - v2
    Checksum:i39918DCA21A94E7B
    GO
    Isoform 1 (identifier: Q9UL49-1) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-48: Missing.

    Show »
    Length:452
    Mass (Da):48,263
    Checksum:iB501EF5BCE12B5A8
    GO
    Isoform 2 (identifier: Q9UL49-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-227: Missing.

    Show »
    Length:273
    Mass (Da):30,479
    Checksum:iC2811B004570E76A
    GO

    Sequence cautioni

    The sequence BAA36557.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti75 – 751T → M in BAA36557. (PubMed:9763657)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti272 – 2721N → D.
    Corresponds to variant rs17854409 [ dbSNP | Ensembl ].
    VAR_061263
    Natural varianti380 – 3801E → D.
    Corresponds to variant rs34304654 [ dbSNP | Ensembl ].
    VAR_049555

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 227227Missing in isoform 2. 1 PublicationVSP_002160Add
    BLAST
    Alternative sequencei1 – 4848Missing in isoform 1. CuratedVSP_030310Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ271337 mRNA. Translation: CAC24700.1.
    AF070992 mRNA. Translation: AAD53986.1.
    AL035669 Genomic DNA. Translation: CAC12752.2.
    AB012124 mRNA. Translation: BAA36557.1. Different initiation.
    CCDSiCCDS13506.1. [Q9UL49-3]
    RefSeqiNP_006593.2. NM_006602.2. [Q9UL49-3]
    UniGeneiHs.126248.

    Genome annotation databases

    EnsembliENST00000335351; ENSP00000334294; ENSG00000101190. [Q9UL49-3]
    GeneIDi10732.
    KEGGihsa:10732.
    UCSCiuc002ydo.3. human. [Q9UL49-3]

    Polymorphism databases

    DMDMi166214983.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ271337 mRNA. Translation: CAC24700.1 .
    AF070992 mRNA. Translation: AAD53986.1 .
    AL035669 Genomic DNA. Translation: CAC12752.2 .
    AB012124 mRNA. Translation: BAA36557.1 . Different initiation.
    CCDSi CCDS13506.1. [Q9UL49-3 ]
    RefSeqi NP_006593.2. NM_006602.2. [Q9UL49-3 ]
    UniGenei Hs.126248.

    3D structure databases

    ProteinModelPortali Q9UL49.
    SMRi Q9UL49. Positions 398-452.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115955. 1 interaction.
    STRINGi 9606.ENSP00000334294.

    PTM databases

    PhosphoSitei Q9UL49.

    Polymorphism databases

    DMDMi 166214983.

    Proteomic databases

    PaxDbi Q9UL49.
    PRIDEi Q9UL49.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000335351 ; ENSP00000334294 ; ENSG00000101190 . [Q9UL49-3 ]
    GeneIDi 10732.
    KEGGi hsa:10732.
    UCSCi uc002ydo.3. human. [Q9UL49-3 ]

    Organism-specific databases

    CTDi 10732.
    GeneCardsi GC20M061472.
    H-InvDB HIX0203065.
    HGNCi HGNC:11646. TCFL5.
    HPAi HPA055223.
    MIMi 604745. gene.
    neXtProti NX_Q9UL49.
    PharmGKBi PA36398.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG28448.
    HOGENOMi HOG000231268.
    HOVERGENi HBG067309.
    InParanoidi Q9UL49.
    KOi K09092.
    OMAi DRFNSIQ.
    OrthoDBi EOG7CK36S.
    PhylomeDBi Q9UL49.
    TreeFami TF336112.

    Enzyme and pathway databases

    SignaLinki Q9UL49.

    Miscellaneous databases

    ChiTaRSi TCFL5. human.
    GenomeRNAii 10732.
    NextBioi 40740.
    PROi Q9UL49.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UL49.
    Bgeei Q9UL49.
    CleanExi HS_TCFL5.
    Genevestigatori Q9UL49.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR011598. bHLH_dom.
    [Graphical view ]
    Pfami PF00010. HLH. 1 hit.
    [Graphical view ]
    SMARTi SM00353. HLH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47459. SSF47459. 1 hit.
    PROSITEi PS50888. BHLH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Dominant T- and B-cell epitopes in an autoantigen linked to Chagas' disease."
      Girones N., Rodriguez C.I., Carrasco-Marin E., Hernaez R.F., de Rego J.L., Fresno M.
      J. Clin. Invest. 107:985-993(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INVOLVEMENT IN AUTOIMMUNE DISEASE.
      Tissue: T lymphoblast.
    2. Zheng P.-S., Pater A.
      Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE (ISOFORM 1).
    3. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Cloning of TCFL5 encoding a novel human basic helix-loop-helix motif protein that is specifically expressed in primary spermatocytes at the pachytene stage."
      Maruyama O., Nishimori H., Katagiri T., Miki Y., Ueno A., Nakamura Y.
      Cytogenet. Cell Genet. 82:41-45(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 17-500 (ISOFORM 3), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.

    Entry informationi

    Entry nameiTCFL5_HUMAN
    AccessioniPrimary (citable) accession number: Q9UL49
    Secondary accession number(s): O94771, Q9BYW0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 10, 2003
    Last sequence update: January 15, 2008
    Last modified: October 1, 2014
    This is version 120 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    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.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 20
      Human chromosome 20: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3