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Protein

Transcription factor 7-like 1

Gene

TCF7L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

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.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi346 – 414HMG boxPROSITE-ProRule annotationAdd BLAST69

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding, Repressor
Biological processTranscription, Transcription regulation, Wnt signaling pathway

Enzyme and pathway databases

ReactomeiR-HSA-201722 Formation of the beta-catenin:TCF transactivating complex
R-HSA-3769402 Deactivation of the beta-catenin transactivating complex
R-HSA-4086398 Ca2+ pathway
R-HSA-4411364 Binding of TCF/LEF:CTNNB1 to target gene promoters
R-HSA-4641265 Repression of WNT target genes
R-HSA-8951430 RUNX3 regulates WNT signaling

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor 7-like 1
Alternative name(s):
HMG box transcription factor 3
Short name:
TCF-3
Gene namesi
Name:TCF7L1
Synonyms:TCF3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000152284.4
HGNCiHGNC:11640 TCF7L1
MIMi604652 gene
neXtProtiNX_Q9HCS4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi83439
OpenTargetsiENSG00000152284
PharmGKBiPA36393

Polymorphism and mutation databases

BioMutaiTCF7L1
DMDMi29337134

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000486141 – 588Transcription factor 7-like 1Add BLAST588

Proteomic databases

EPDiQ9HCS4
MaxQBiQ9HCS4
PaxDbiQ9HCS4
PeptideAtlasiQ9HCS4
PRIDEiQ9HCS4
ProteomicsDBi81794

PTM databases

iPTMnetiQ9HCS4
PhosphoSitePlusiQ9HCS4

Expressioni

Tissue specificityi

Detected in hair follicles and skin keratinocytes, and at lower levels in stomach epithelium.1 Publication

Gene expression databases

BgeeiENSG00000152284 Expressed in 181 organ(s), highest expression level in endocervix
CleanExiHS_TCF3
HS_TCF7L1
ExpressionAtlasiQ9HCS4 baseline and differential
GenevisibleiQ9HCS4 HS

Organism-specific databases

HPAiHPA071298

Interactioni

Subunit structurei

Binds the armadillo repeat of CTNNB1 and forms a stable complex.By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi123642, 6 interactors
STRINGi9606.ENSP00000282111

Structurei

3D structure databases

ProteinModelPortaliQ9HCS4
SMRiQ9HCS4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 74CTNNB1-bindingBy similarityAdd BLAST74

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi421 – 427Nuclear localization signalSequence analysis7

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi5 – 29Gly-richAdd BLAST25
Compositional biasi117 – 326Pro-richAdd BLAST210

Domaini

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 similaritiesi

Belongs to the TCF/LEF family.Curated

Phylogenomic databases

eggNOGiKOG3248 Eukaryota
ENOG41109RU LUCA
GeneTreeiENSGT00390000009964
HOGENOMiHOG000116032
HOVERGENiHBG000419
InParanoidiQ9HCS4
KOiK04490
OMAiGRKWHNL
OrthoDBiEOG091G0705
PhylomeDBiQ9HCS4
TreeFamiTF318448

Family and domain databases

Gene3Di1.10.30.10, 1 hit
4.10.900.10, 1 hit
InterProiView protein in InterPro
IPR027397 Catenin_binding_dom_sf
IPR013558 CTNNB1-bd_N
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR024940 TCF/LEF
IPR028773 TCF7L
PANTHERiPTHR10373 PTHR10373, 1 hit
PTHR10373:SF25 PTHR10373:SF25, 1 hit
PfamiView protein in Pfam
PF08347 CTNNB1_binding, 1 hit
PF00505 HMG_box, 1 hit
SMARTiView protein in SMART
SM00398 HMG, 1 hit
SUPFAMiSSF47095 SSF47095, 1 hit
PROSITEiView protein in PROSITE
PS50118 HMG_BOX_2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q9HCS4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPQLGGGGGG GGGGSGGGGG SSAGAAGGGD DLGANDELIP FQDEGGEEQE
60 70 80 90 100
PSSDSASAQR DLDEVKSSLV NESENQSSSS DSEAERRPQP VRDTFQKPRD
110 120 130 140 150
YFAEVRRPQD SAFFKGPPYP GYPFLMIPDL SSPYLSNGPL SPGGARTYLQ
160 170 180 190 200
MKWPLLDVPS SATVKDTRSP SPAHLSNKVP VVQHPHHMHP LTPLITYSND
210 220 230 240 250
HFSPGSPPTH LSPEIDPKTG IPRPPHPSEL SPYYPLSPGA VGQIPHPLGW
260 270 280 290 300
LVPQQGQPMY SLPPGGFRHP YPALAMNASM SSLVSSRFSP HMVAPAHPGL
310 320 330 340 350
PTSGIPHPAI VSPIVKQEPA PPSLSPAVSV KSPVTVKKEE EKKPHVKKPL
360 370 380 390 400
NAFMLYMKEM RAKVVAECTL KESAAINQIL GRKWHNLSRE EQAKYYELAR
410 420 430 440 450
KERQLHSQLY PTWSARDNYG KKKKRKREKQ LSQTQSQQQV QEAEGALASK
460 470 480 490 500
SKKPCVQYLP PEKPCDSPAS SHGSMLDSPA TPSAALASPA APAATHSEQA
510 520 530 540 550
QPLSLTTKPE TRAQLALHSA AFLSAKAAAS SSGQMGSQPP LLSRPLPLGS
560 570 580
MPTALLASPP SFPATLHAHQ ALPVLQAQPL SLVTKSAH
Length:588
Mass (Da):62,631
Last modified:March 1, 2001 - v1
Checksum:i82FB0C9300482A02
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JPE3C9JPE3_HUMAN
Transcription factor 7-like 1
TCF7L1
28Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti14Missing in AAH58894 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035938147T → N in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_049561533G → R1 PublicationCorresponds to variant dbSNP:rs11547160Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS1971.1
PIRiS22806
RefSeqiNP_112573.1, NM_031283.2
UniGeneiHs.516297

Genome annotation databases

EnsembliENST00000282111; ENSP00000282111; ENSG00000152284
GeneIDi83439
KEGGihsa:83439
UCSCiuc002soy.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS1971.1
PIRiS22806
RefSeqiNP_112573.1, NM_031283.2
UniGeneiHs.516297

3D structure databases

ProteinModelPortaliQ9HCS4
SMRiQ9HCS4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123642, 6 interactors
STRINGi9606.ENSP00000282111

PTM databases

iPTMnetiQ9HCS4
PhosphoSitePlusiQ9HCS4

Polymorphism and mutation databases

BioMutaiTCF7L1
DMDMi29337134

Proteomic databases

EPDiQ9HCS4
MaxQBiQ9HCS4
PaxDbiQ9HCS4
PeptideAtlasiQ9HCS4
PRIDEiQ9HCS4
ProteomicsDBi81794

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000282111; ENSP00000282111; ENSG00000152284
GeneIDi83439
KEGGihsa:83439
UCSCiuc002soy.4 human

Organism-specific databases

CTDi83439
DisGeNETi83439
EuPathDBiHostDB:ENSG00000152284.4
GeneCardsiTCF7L1
HGNCiHGNC:11640 TCF7L1
HPAiHPA071298
MIMi604652 gene
neXtProtiNX_Q9HCS4
OpenTargetsiENSG00000152284
PharmGKBiPA36393
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3248 Eukaryota
ENOG41109RU LUCA
GeneTreeiENSGT00390000009964
HOGENOMiHOG000116032
HOVERGENiHBG000419
InParanoidiQ9HCS4
KOiK04490
OMAiGRKWHNL
OrthoDBiEOG091G0705
PhylomeDBiQ9HCS4
TreeFamiTF318448

Enzyme and pathway databases

ReactomeiR-HSA-201722 Formation of the beta-catenin:TCF transactivating complex
R-HSA-3769402 Deactivation of the beta-catenin transactivating complex
R-HSA-4086398 Ca2+ pathway
R-HSA-4411364 Binding of TCF/LEF:CTNNB1 to target gene promoters
R-HSA-4641265 Repression of WNT target genes
R-HSA-8951430 RUNX3 regulates WNT signaling

Miscellaneous databases

ChiTaRSiTCF7L1 human
GeneWikiiTCF7L1
GenomeRNAii83439
PROiPR:Q9HCS4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000152284 Expressed in 181 organ(s), highest expression level in endocervix
CleanExiHS_TCF3
HS_TCF7L1
ExpressionAtlasiQ9HCS4 baseline and differential
GenevisibleiQ9HCS4 HS

Family and domain databases

Gene3Di1.10.30.10, 1 hit
4.10.900.10, 1 hit
InterProiView protein in InterPro
IPR027397 Catenin_binding_dom_sf
IPR013558 CTNNB1-bd_N
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR024940 TCF/LEF
IPR028773 TCF7L
PANTHERiPTHR10373 PTHR10373, 1 hit
PTHR10373:SF25 PTHR10373:SF25, 1 hit
PfamiView protein in Pfam
PF08347 CTNNB1_binding, 1 hit
PF00505 HMG_box, 1 hit
SMARTiView protein in SMART
SM00398 HMG, 1 hit
SUPFAMiSSF47095 SSF47095, 1 hit
PROSITEiView protein in PROSITE
PS50118 HMG_BOX_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTF7L1_HUMAN
AccessioniPrimary (citable) accession number: Q9HCS4
Secondary accession number(s): Q53R97, Q6PD70, Q9NP00
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 25, 2003
Last sequence update: March 1, 2001
Last modified: September 12, 2018
This is version 146 of the entry and version 1 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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