Q9UL49 (TCFL5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	500 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Differentiation Spermatogenesis Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW regulation of cell differentiation Inferred from expression pattern Ref.4. Source: UniProtKB regulation of cell proliferation Inferred from expression pattern Ref.4. Source: UniProtKB spermatogenesis Inferred from expression pattern Ref.4. Source: UniProtKB transcription from RNA polymerase II promoter Traceable author statement Ref.4. Source: ProtInc
Cellular_component	male germ cell nucleus Inferred from electronic annotation. Source: Compara nucleus Inferred from direct assay Ref.4. Source: UniProtKB
Molecular_function	DNA binding Inferred from direct assay Ref.4. Source: UniProtKB sequence-specific DNA binding transcription factor activity Traceable author statement Ref.4. Source: ProtInc
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 500	500	Transcription factor-like 5 protein		PRO_0000127475
Regions
	Domain	400 – 450	51	bHLH
	Region	347 – 356	10	R3 epitope (recognized by Chagas's antibodies)
	Region	481 – 500	20	R1 epitope (recognized by Chagas's antibodies)
	Compositional bias	67 – 182	116	Ala-rich
Natural variations
	Alternative sequence	1 – 227	227	Missing in isoform 2.		VSP_002160
	Alternative sequence	1 – 48	48	Missing in isoform 1.		VSP_030310
	Natural variant	272	1	N → D. Corresponds to variant rs17854409 [ dbSNP | Ensembl ].		VAR_061263
	Natural variant	380	1	E → D. Corresponds to variant rs34304654 [ dbSNP | Ensembl ].		VAR_049555
Experimental info
	Sequence conflict	75	1	T → M in BAA36557. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 3 [UniParc]. Last modified January 15, 2008. Version 2. Checksum: 39918DCA21A94E7B	FASTA	500	52,697
	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
	Isoform 1 [UniParc]. Checksum: B501EF5BCE12B5A8	FASTA	452	48,263
	10 20 30 40 50 60 MTEVEYTQLQ HILCSHMEAA ADGELETRLN SALLAAAGPG AGAGGFAAGG QGGAAPVYPV 70 80 90 100 110 120 LCPSALAADA PCLGHIDFQE LRMMLLSEAG AAEKTSGGGD GARARADGAA KEGAGAAAAA 130 140 150 160 170 180 AGPDGAPEAR AKPAVRVRLE DRFNSIPAEP PPAPRGPEPP EPGGALNNLV TLIRHPSELM 190 200 210 220 230 240 NVPLQQQNKC TALVKNKTAA TTTALQFTYP LFTTNACSTS GNSNLSQTQS SSNSCSVLEA 250 260 270 280 290 300 AKHQDIGLPR AFSFCYQQEI ESTKQTLGSR NKVLPEQVWI KVGEAALCKQ ALKRNRSRMR 310 320 330 340 350 360 QLDTNVERRA LGEIQNVGEG ATATQGAWQS SESSQANLGE QAQSGPQGGR SQRRERHNRM 370 380 390 400 410 420 ERDRRRRIRI CCDELNLLVP FCNAETDKAT TLQWTTAFLK YIQERHGDSL KKEFESVFCG 430 440 450 KTGRRLKLTR PDSLVTCPAQ GSLQSSPSME IK
	Isoform 2 [UniParc]. Checksum: C2811B004570E76A	FASTA	273	30,479
	10 20 30 40 50 60 MNVPLQQQNK CTALVKNKTA ATTTALQFTY PLFTTNACST SGNSNLSQTQ SSSNSCSVLE 70 80 90 100 110 120 AAKHQDIGLP RAFSFCYQQE IESTKQTLGS RNKVLPEQVW IKVGEAALCK QALKRNRSRM 130 140 150 160 170 180 RQLDTNVERR ALGEIQNVGE GATATQGAWQ SSESSQANLG EQAQSGPQGG RSQRRERHNR 190 200 210 220 230 240 MERDRRRRIR ICCDELNLLV PFCNAETDKA TTLQWTTAFL KYIQERHGDS LKKEFESVFC 250 260 270 GKTGRRLKLT RPDSLVTCPA QGSLQSSPSM EIK

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00219462. IPI00873596. IPI00880158.
RefSeq	NP_006593.2. NM_006602.2.
UniGene	Hs.126248.
3D structure databases
ProteinModelPortal	Q9UL49.
SMR	Q9UL49. Positions 398-464.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000334294.
PTM databases
PhosphoSite	Q9UL49.
Polymorphism databases
DMDM	166214983.
Proteomic databases
PaxDb	Q9UL49.
PRIDE	Q9UL49.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000335351; ENSP00000334294; ENSG00000101190.
GeneID	10732.
KEGG	hsa:10732.
UCSC	uc002ydo.3. human.
Organism-specific databases
CTD	10732.
GeneCards	GC20M061472.
H-InvDB	HIX0203065.
HGNC	HGNC:11646. TCFL5.
HPA	HPA055223.
MIM	604745. gene.
neXtProt	NX_Q9UL49.
PharmGKB	PA36398.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG28448.
HOGENOM	HOG000231268.
HOVERGEN	HBG067309.
InParanoid	Q9UL49.
KO	K09092.
OMA	DRFNSIQ.
OrthoDB	EOG434W6F.
PhylomeDB	Q9UL49.
Gene expression databases
ArrayExpress	Q9UL49.
Bgee	Q9UL49.
CleanEx	HS_TCFL5.
Genevestigator	Q9UL49.
GermOnline	ENSG00000101190. Homo sapiens.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR011598. bHLH_dom. [Graphical view]
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	TCFL5. human.
GenomeRNAi	10732.
NextBio	40740.
SOURCE	Search...

Entry information

Entry name

TCFL5_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 108 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.