Q9HCS4 (TF7L1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transcription factor 7-like 1

Alternative name(s):
HMG box transcription factor 3
Short name=TCF-3

Gene names

Name:	TCF7L1
Synonyms:	TCF3

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	588 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Participates in the Wnt signaling pathway. Binds to DNA and acts as a repressor in the absence of CTNNB1, and as an activator in its presence. Necessary for the terminal differentiation of epidermal cells, the formation of keratohyalin granules and the development of the barrier function of the epidermis By similarity. Down-regulates NQO1, leading to increased mitomycin c resistance.
Subunit structure	Binds the armadillo repeat of CTNNB1 and forms a stable complex By similarity.
Subcellular location	Nucleus.
Tissue specificity	Detected in hair follicles and skin keratinocytes, and at lower levels in stomach epithelium. Ref.5
Domain	The putative Groucho interaction domain between the N-terminal CTNNB1 binding domain and the HMG-box is necessary for repression of the transactivation mediated by TCF7L1 and CTNNB1 By similarity.
Sequence similarities	Belongs to the TCF/LEF family. Contains 1 HMG box DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation Wnt signaling pathway
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Ligand	DNA-binding
Molecular function	Activator Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	brain development Inferred from Biological aspect of Ancestor. Source: RefGenome canonical Wnt receptor signaling pathway Inferred from Biological aspect of Ancestor. Source: RefGenome chromatin organization Non-traceable author statement Ref.1Ref.4. Source: UniProtKB generation of neurons Inferred from Biological aspect of Ancestor. Source: RefGenome regulation of Wnt receptor signaling pathway Non-traceable author statement Ref.1Ref.4. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	transcription factor complex Inferred from Biological aspect of Ancestor. Source: RefGenome
Molecular function	beta-catenin binding Inferred from Biological aspect of Ancestor. Source: RefGenome chromatin binding Inferred from Biological aspect of Ancestor. Source: RefGenome sequence-specific DNA binding Inferred from Biological aspect of Ancestor. Source: RefGenome sequence-specific DNA binding transcription factor activity Non-traceable author statement Ref.1Ref.4. Source: UniProtKB transcription regulatory region DNA binding Inferred from Biological aspect of Ancestor. Source: RefGenome
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 588	588	Transcription factor 7-like 1		PRO_0000048614
Regions
	DNA binding	346 – 414	69	HMG box
	Region	1 – 74	74	CTNNB1-binding By similarity
	Motif	421 – 427	7	Nuclear localization signal Potential
	Compositional bias	5 – 29	25	Gly-rich
	Compositional bias	117 – 326	210	Pro-rich
Natural variations
	Natural variant	147	1	T → N in a breast cancer sample; somatic mutation. Ref.6		VAR_035938
	Natural variant	533	1	G → R. Ref.3 Corresponds to variant rs11547160 [ dbSNP | Ensembl ].		VAR_049561
Experimental info
	Sequence conflict	14	1	Missing in AAH58894. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q9HCS4 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 82FB0C9300482A02	FASTA	588	62,631
	10 20 30 40 50 60 MPQLGGGGGG GGGGSGGGGG SSAGAAGGGD DLGANDELIP FQDEGGEEQE PSSDSASAQR 70 80 90 100 110 120 DLDEVKSSLV NESENQSSSS DSEAERRPQP VRDTFQKPRD YFAEVRRPQD SAFFKGPPYP 130 140 150 160 170 180 GYPFLMIPDL SSPYLSNGPL SPGGARTYLQ MKWPLLDVPS SATVKDTRSP SPAHLSNKVP 190 200 210 220 230 240 VVQHPHHMHP LTPLITYSND HFSPGSPPTH LSPEIDPKTG IPRPPHPSEL SPYYPLSPGA 250 260 270 280 290 300 VGQIPHPLGW LVPQQGQPMY SLPPGGFRHP YPALAMNASM SSLVSSRFSP HMVAPAHPGL 310 320 330 340 350 360 PTSGIPHPAI VSPIVKQEPA PPSLSPAVSV KSPVTVKKEE EKKPHVKKPL NAFMLYMKEM 370 380 390 400 410 420 RAKVVAECTL KESAAINQIL GRKWHNLSRE EQAKYYELAR KERQLHSQLY PTWSARDNYG 430 440 450 460 470 480 KKKKRKREKQ LSQTQSQQQV QEAEGALASK SKKPCVQYLP PEKPCDSPAS SHGSMLDSPA 490 500 510 520 530 540 TPSAALASPA APAATHSEQA QPLSLTTKPE TRAQLALHSA AFLSAKAAAS SSGQMGSQPP 550 560 570 580 LLSRPLPLGS MPTALLASPP SFPATLHAHQ ALPVLQAQPL SLVTKSAH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mitomycin C resistance induced by TCF-3 overexpression in gastric cancer cell line MKN28 is associated with DT-diaphorase down-regulation." Sagara N., Katoh M. Cancer Res. 60:5959-5962(2000) [PubMed: 11085512] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Fetal lung.
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-533. Tissue: Eye.
[4]	"A gene family of HMG-box transcription factors with homology to TCF-1." Castrop J., van Norren K., Clevers H.C. Nucleic Acids Res. 20:611-611(1992) [PubMed: 1741298] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 331-419.
[5]	"Restricted high level expression of Tcf-4 protein in intestinal and mammary gland epithelium." Barker N., Huls G., Korinek V., Clevers H. Am. J. Pathol. 154:29-35(1999) [PubMed: 9916915] [Abstract] Cited for: TISSUE SPECIFICITY.
[6]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-147.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB031046 mRNA. Translation: BAB18185.1. AC011236 Genomic DNA. No translation available. AC093162 Genomic DNA. Translation: AAY24094.1. BC058894 mRNA. Translation: AAH58894.1. X62870 Genomic DNA. Translation: CAB91064.1.
IPI	IPI00010396.
PIR	S22806.
RefSeq	NP_112573.1. NM_031283.2.
UniGene	Hs.516297.
3D structure databases
ProteinModelPortal	Q9HCS4.
SMR	Q9HCS4. Positions 32-70, 345-420.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9HCS4.
PTM databases
PhosphoSite	Q9HCS4.
Polymorphism databases
DMDM	29337134.
Proteomic databases
PRIDE	Q9HCS4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000282111; ENSP00000282111; ENSG00000152284.
GeneID	83439.
KEGG	hsa:83439.
UCSC	uc002soy.1. human.
Organism-specific databases
CTD	83439.
GeneCards	GC02P085272.
H-InvDB	HIX0029776.
HGNC	HGNC:11640. TCF7L1.
MIM	604652. gene.
neXtProt	NX_Q9HCS4.
PharmGKB	PA36393.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG14359.
GeneTree	ENSGT00390000009964.
HOGENOM	HBG714960.
HOVERGEN	HBG000419.
InParanoid	Q9HCS4.
OMA	RPQDSAF.
OrthoDB	EOG46MBJM.
PhylomeDB	Q9HCS4.
Gene expression databases
ArrayExpress	Q9HCS4.
Bgee	Q9HCS4.
CleanEx	HS_TCF3. HS_TCF7L1.
Genevestigator	Q9HCS4.
GermOnline	ENSG00000152284. Homo sapiens.
Family and domain databases
InterPro	IPR013558. CTNNB1-bd_N. IPR000910. HMG_HMG1/HMG2. IPR009071. HMG_superfamily. [Graphical view]
Gene3D	G3DSA:1.10.30.10. HMG-box. 1 hit.
KO	K04490.
Pfam	PF08347. CTNNB1_binding. 1 hit. PF00505. HMG_box. 1 hit. [Graphical view]
SMART	SM00398. HMG. 1 hit. [Graphical view]
SUPFAM	SSF47095. HMG-box. 1 hit.
PROSITE	PS50118. HMG_BOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	72314.
SOURCE	Search...

Entry information

Entry name

TF7L1_HUMAN

Accession

Primary (citable) accession number: Q9HCS4
Secondary accession number(s): Q53R97, Q6PD70, Q9NP00

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 25, 2003
Last sequence update:	March 1, 2001
Last modified:	December 14, 2011
This is version 87 of the entry and version 1 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.