TCFL5_HUMAN
ID TCFL5_HUMAN Reviewed; 500 AA.
AC Q9UL49; O94771; Q9BYW0;
DT 10-JAN-2003, integrated into UniProtKB/Swiss-Prot.
DT 15-JAN-2008, sequence version 2.
DT 03-AUG-2022, entry version 167.
DE RecName: Full=Transcription factor-like 5 protein;
DE AltName: Full=Cha transcription factor;
DE AltName: Full=HPV-16 E2-binding protein 1;
DE Short=E2BP-1;
GN Name=TCFL5; Synonyms=CHA, E2BP1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND INVOLVEMENT IN AUTOIMMUNE
RP DISEASE.
RC TISSUE=T lymphoblast;
RX PubMed=11306602; DOI=10.1172/jci10734;
RA Girones N., Rodriguez C.I., Carrasco-Marin E., Hernaez R.F., de Rego J.L.,
RA Fresno M.;
RT "Dominant T- and B-cell epitopes in an autoantigen linked to Chagas'
RT disease.";
RL J. Clin. Invest. 107:985-993(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE (ISOFORM 1).
RA Zheng P.-S., Pater A.;
RL Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 17-500 (ISOFORM 3), FUNCTION, SUBCELLULAR
RP LOCATION, TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=9763657; DOI=10.1159/000015061;
RA Maruyama O., Nishimori H., Katagiri T., Miki Y., Ueno A., Nakamura Y.;
RT "Cloning of TCFL5 encoding a novel human basic helix-loop-helix motif
RT protein that is specifically expressed in primary spermatocytes at the
RT pachytene stage.";
RL Cytogenet. Cell Genet. 82:41-45(1998).
CC -!- FUNCTION: Putative transcription factor. Isoform 3 may play a role in
CC early spermatogenesis. {ECO:0000269|PubMed:9763657}.
CC -!- SUBUNIT: Efficient DNA binding requires dimerization with another bHLH
CC protein.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981,
CC ECO:0000269|PubMed:9763657}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=3;
CC IsoId=Q9UL49-3; Sequence=Displayed;
CC Name=1;
CC IsoId=Q9UL49-1; Sequence=VSP_030310;
CC Name=2;
CC IsoId=Q9UL49-2; Sequence=VSP_002160;
CC -!- TISSUE SPECIFICITY: Isoform 3 is testis specific. Isoform 2 is pancreas
CC specific. {ECO:0000269|PubMed:9763657}.
CC -!- DEVELOPMENTAL STAGE: Isoform 3 is specifically expressed in primary
CC spermatocytes at the pachytene stage, but not those at leptonema stage.
CC Not expressed in other testicular cells, including spermatogonia
CC located in the basal compartment of the seminiferous tubule or
CC spermatids. {ECO:0000269|PubMed:9763657}.
CC -!- MISCELLANEOUS: Antibodies against TCFL5 are present in sera from
CC patients with Chagas disease (also called American Trypanosomiasis), a
CC disease caused by Trypanosoma cruzi. Two different epitopes that mimic
CC Trypanosoma cruzi antigens have been identified: R1 and R3 epitopes,
CC which are recognized by T- and B-cells, respectively.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA36557.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AJ271337; CAC24700.1; -; mRNA.
DR EMBL; AF070992; AAD53986.1; -; mRNA.
DR EMBL; AL035669; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AB012124; BAA36557.1; ALT_INIT; mRNA.
DR CCDS; CCDS13506.1; -. [Q9UL49-3]
DR RefSeq; NP_006593.2; NM_006602.3. [Q9UL49-3]
DR AlphaFoldDB; Q9UL49; -.
DR SMR; Q9UL49; -.
DR BioGRID; 115955; 3.
DR STRING; 9606.ENSP00000334294; -.
DR iPTMnet; Q9UL49; -.
DR PhosphoSitePlus; Q9UL49; -.
DR BioMuta; TCFL5; -.
DR DMDM; 166214983; -.
DR MassIVE; Q9UL49; -.
DR MaxQB; Q9UL49; -.
DR PaxDb; Q9UL49; -.
DR PeptideAtlas; Q9UL49; -.
DR PRIDE; Q9UL49; -.
DR ProteomicsDB; 84948; -. [Q9UL49-3]
DR ProteomicsDB; 84949; -. [Q9UL49-1]
DR ProteomicsDB; 84950; -. [Q9UL49-2]
DR Antibodypedia; 14989; 197 antibodies from 32 providers.
DR DNASU; 10732; -.
DR Ensembl; ENST00000335351.8; ENSP00000334294.3; ENSG00000101190.13. [Q9UL49-3]
DR GeneID; 10732; -.
DR KEGG; hsa:10732; -.
DR MANE-Select; ENST00000335351.8; ENSP00000334294.3; NM_006602.4; NP_006593.2.
DR UCSC; uc002ydp.3; human. [Q9UL49-3]
DR CTD; 10732; -.
DR DisGeNET; 10732; -.
DR GeneCards; TCFL5; -.
DR HGNC; HGNC:11646; TCFL5.
DR HPA; ENSG00000101190; Tissue enhanced (brain, testis).
DR MIM; 604745; gene.
DR neXtProt; NX_Q9UL49; -.
DR OpenTargets; ENSG00000101190; -.
DR PharmGKB; PA36398; -.
DR VEuPathDB; HostDB:ENSG00000101190; -.
DR eggNOG; ENOG502QVQ5; Eukaryota.
DR GeneTree; ENSGT00390000002821; -.
DR HOGENOM; CLU_543967_0_0_1; -.
DR InParanoid; Q9UL49; -.
DR OMA; HMEAQAN; -.
DR PhylomeDB; Q9UL49; -.
DR TreeFam; TF336112; -.
DR PathwayCommons; Q9UL49; -.
DR SignaLink; Q9UL49; -.
DR SIGNOR; Q9UL49; -.
DR BioGRID-ORCS; 10732; 35 hits in 1084 CRISPR screens.
DR ChiTaRS; TCFL5; human.
DR GenomeRNAi; 10732; -.
DR Pharos; Q9UL49; Tbio.
DR PRO; PR:Q9UL49; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9UL49; protein.
DR Bgee; ENSG00000101190; Expressed in sperm and 181 other tissues.
DR ExpressionAtlas; Q9UL49; baseline and differential.
DR Genevisible; Q9UL49; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0001673; C:male germ cell nucleus; IEA:Ensembl.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; TAS:ProtInc.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0046983; F:protein dimerization activity; IEA:InterPro.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0045595; P:regulation of cell differentiation; IEP:UniProtKB.
DR GO; GO:0042127; P:regulation of cell population proliferation; IEP:UniProtKB.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IDA:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; IEP:UniProtKB.
DR GO; GO:0006366; P:transcription by RNA polymerase II; TAS:ProtInc.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR InterPro; IPR039583; TCFL5.
DR PANTHER; PTHR15402; PTHR15402; 1.
DR Pfam; PF00010; HLH; 1.
DR SMART; SM00353; HLH; 1.
DR SUPFAM; SSF47459; SSF47459; 1.
DR PROSITE; PS50888; BHLH; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Developmental protein; Differentiation; DNA-binding;
KW Nucleus; Reference proteome; Spermatogenesis; Transcription;
KW Transcription regulation.
FT CHAIN 1..500
FT /note="Transcription factor-like 5 protein"
FT /id="PRO_0000127475"
FT DOMAIN 400..450
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REGION 1..34
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 191..211
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 347..356
FT /note="R3 epitope (recognized by Chagas's antibodies)"
FT REGION 365..410
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 481..500
FT /note="R1 epitope (recognized by Chagas's antibodies)"
FT COMPBIAS 195..209
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 366..397
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..227
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11306602"
FT /id="VSP_002160"
FT VAR_SEQ 1..48
FT /note="Missing (in isoform 1)"
FT /evidence="ECO:0000305"
FT /id="VSP_030310"
FT VARIANT 272
FT /note="N -> D (in dbSNP:rs17854409)"
FT /id="VAR_061263"
FT VARIANT 380
FT /note="E -> D (in dbSNP:rs34304654)"
FT /id="VAR_049555"
FT CONFLICT 75
FT /note="T -> M (in Ref. 4; BAA36557)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 500 AA; 52697 MW; 39918DCA21A94E7B CRC64;
MSGPGPREPP PEAGAAGGEA AVEGAGGGDA ALGEPGLSFT TTDLSLVEMT EVEYTQLQHI
LCSHMEAAAD GELETRLNSA LLAAAGPGAG AGGFAAGGQG GAAPVYPVLC PSALAADAPC
LGHIDFQELR MMLLSEAGAA EKTSGGGDGA RARADGAAKE GAGAAAAAAG PDGAPEARAK
PAVRVRLEDR FNSIPAEPPP APRGPEPPEP GGALNNLVTL IRHPSELMNV PLQQQNKCTA
LVKNKTAATT TALQFTYPLF TTNACSTSGN SNLSQTQSSS NSCSVLEAAK HQDIGLPRAF
SFCYQQEIES TKQTLGSRNK VLPEQVWIKV GEAALCKQAL KRNRSRMRQL DTNVERRALG
EIQNVGEGAT ATQGAWQSSE SSQANLGEQA QSGPQGGRSQ RRERHNRMER DRRRRIRICC
DELNLLVPFC NAETDKATTL QWTTAFLKYI QERHGDSLKK EFESVFCGKT GRRLKLTRPD
SLVTCPAQGS LQSSPSMEIK
