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Q9UL49 (TCFL5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transcription factor-like 5 protein
Alternative name(s):
Cha transcription factor
HPV-16 E2-binding protein 1
Short name=E2BP-1
Gene names
Name:TCFL5
Synonyms:CHA, E2BP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length500 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Putative transcription factor. Isoform 3 may play a role in early spermatogenesis. Ref.4

Subunit structure

Efficient DNA binding requires dimerization with another bHLH protein.

Subcellular location

Nucleus Ref.4.

Tissue specificity

Isoform 3 is testis specific. Isoform 2 is pancreas specific. Ref.4

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. Ref.4

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 similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Sequence caution

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

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 3 (identifier: Q9UL49-3)

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.
Isoform 1 (identifier: Q9UL49-1)

The sequence of this isoform differs from the canonical sequence as follows:
     1-48: Missing.
Isoform 2 (identifier: Q9UL49-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 500500Transcription factor-like 5 protein
PRO_0000127475

Regions

Domain400 – 45051bHLH
Region347 – 35610R3 epitope (recognized by Chagas's antibodies)
Region481 – 50020R1 epitope (recognized by Chagas's antibodies)
Compositional bias67 – 182116Ala-rich

Natural variations

Alternative sequence1 – 227227Missing in isoform 2.
VSP_002160
Alternative sequence1 – 4848Missing in isoform 1.
VSP_030310
Natural variant2721N → D.
Corresponds to variant rs17854409 [ dbSNP | Ensembl ].
VAR_061263
Natural variant3801E → D.
Corresponds to variant rs34304654 [ dbSNP | Ensembl ].
VAR_049555

Experimental info

Sequence conflict751T → M in BAA36557. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 3 [UniParc].

Last modified January 15, 2008. Version 2.
Checksum: 39918DCA21A94E7B

FASTA50052,697
        10         20         30         40         50         60 
MSGPGPREPP PEAGAAGGEA AVEGAGGGDA ALGEPGLSFT TTDLSLVEMT EVEYTQLQHI 

        70         80         90        100        110        120 
LCSHMEAAAD GELETRLNSA LLAAAGPGAG AGGFAAGGQG GAAPVYPVLC PSALAADAPC 

       130        140        150        160        170        180 
LGHIDFQELR MMLLSEAGAA EKTSGGGDGA RARADGAAKE GAGAAAAAAG PDGAPEARAK 

       190        200        210        220        230        240 
PAVRVRLEDR FNSIPAEPPP APRGPEPPEP GGALNNLVTL IRHPSELMNV PLQQQNKCTA 

       250        260        270        280        290        300 
LVKNKTAATT TALQFTYPLF TTNACSTSGN SNLSQTQSSS NSCSVLEAAK HQDIGLPRAF 

       310        320        330        340        350        360 
SFCYQQEIES TKQTLGSRNK VLPEQVWIKV GEAALCKQAL KRNRSRMRQL DTNVERRALG 

       370        380        390        400        410        420 
EIQNVGEGAT ATQGAWQSSE SSQANLGEQA QSGPQGGRSQ RRERHNRMER DRRRRIRICC 

       430        440        450        460        470        480 
DELNLLVPFC NAETDKATTL QWTTAFLKYI QERHGDSLKK EFESVFCGKT GRRLKLTRPD 

       490        500 
SLVTCPAQGS LQSSPSMEIK 

« Hide

Isoform 1 [UniParc].

Checksum: B501EF5BCE12B5A8
Show »

FASTA45248,263
Isoform 2 [UniParc].

Checksum: C2811B004570E76A
Show »

FASTA27330,479

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ271337 mRNA. Translation: CAC24700.1.
AF070992 mRNA. Translation: AAD53986.1.
AL035669 Genomic DNA. Translation: CAC12752.2.
AB012124 mRNA. Translation: BAA36557.1. Different initiation.
CCDSCCDS13506.1. [Q9UL49-3]
RefSeqNP_006593.2. NM_006602.2. [Q9UL49-3]
UniGeneHs.126248.

3D structure databases

ProteinModelPortalQ9UL49.
SMRQ9UL49. Positions 398-452.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115955. 1 interaction.
STRING9606.ENSP00000334294.

PTM databases

PhosphoSiteQ9UL49.

Polymorphism databases

DMDM166214983.

Proteomic databases

PaxDbQ9UL49.
PRIDEQ9UL49.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000335351; ENSP00000334294; ENSG00000101190. [Q9UL49-3]
GeneID10732.
KEGGhsa:10732.
UCSCuc002ydo.3. human. [Q9UL49-3]

Organism-specific databases

CTD10732.
GeneCardsGC20M061472.
H-InvDBHIX0203065.
HGNCHGNC:11646. TCFL5.
HPAHPA055223.
MIM604745. gene.
neXtProtNX_Q9UL49.
PharmGKBPA36398.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG28448.
HOGENOMHOG000231268.
HOVERGENHBG067309.
InParanoidQ9UL49.
KOK09092.
OMADRFNSIQ.
OrthoDBEOG7CK36S.
PhylomeDBQ9UL49.
TreeFamTF336112.

Enzyme and pathway databases

SignaLinkQ9UL49.

Gene expression databases

ArrayExpressQ9UL49.
BgeeQ9UL49.
CleanExHS_TCFL5.
GenevestigatorQ9UL49.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
[Graphical view]
PfamPF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTCFL5. human.
GenomeRNAi10732.
NextBio40740.
PROQ9UL49.
SOURCESearch...

Entry information

Entry nameTCFL5_HUMAN
AccessionPrimary (citable) accession number: Q9UL49
Secondary accession number(s): O94771, Q9BYW0
Entry history
Integrated into UniProtKB/Swiss-Prot: January 10, 2003
Last sequence update: January 15, 2008
Last modified: July 9, 2014
This is version 119 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM