Human Gene TCF7L1 (ENST00000282111.4_4) from GENCODE V47lift37
  Description: transcription factor 7 like 1 (from RefSeq NM_031283.3)
Gencode Transcript: ENST00000282111.4_4
Gencode Gene: ENSG00000152284.5_8
Transcript (Including UTRs)
   Position: hg19 chr2:85,360,515-85,537,510 Size: 176,996 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr2:85,360,808-85,536,585 Size: 175,778 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:85,360,515-85,537,510)mRNA (may differ from genome)Protein (588 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TF7L1_HUMAN
DESCRIPTION: RecName: Full=Transcription factor 7-like 1; AltName: Full=HMG box transcription factor 3; Short=TCF-3;
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: 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.
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).
SIMILARITY: Belongs to the TCF/LEF family.
SIMILARITY: Contains 1 HMG box DNA-binding domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TCF7L1
Diseases sorted by gene-association score: anogenital venereal wart (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.01 RPKM in Cervix - Endocervix
Total median expression: 457.09 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -201.30293-0.687 Picture PostScript Text
3' UTR -244.30925-0.264 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013558 - CTNNB1-bd_N
IPR009071 - HMG_superfamily
IPR024940 - TCF/LEF

Pfam Domains:
PF00505 - HMG (high mobility group) box
PF08347 - N-terminal CTNNB1 binding
PF09011 - HMG-box domain

SCOP Domains:
47095 - HMG-box

ModBase Predicted Comparative 3D Structure on Q9HCS4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0008013 beta-catenin binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding

Biological Process:
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0016055 Wnt signaling pathway
GO:0030111 regulation of Wnt signaling pathway
GO:0060070 canonical Wnt signaling pathway
GO:1904837 beta-catenin-TCF complex assembly

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC058894 - Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box), mRNA (cDNA clone MGC:64931 IMAGE:6141641), complete cds.
AB031046 - Homo sapiens mRNA for HMG-box transcription factor TCF-3, complete cds.
KJ903341 - Synthetic construct Homo sapiens clone ccsbBroadEn_12735 TCF7L1 gene, encodes complete protein.
AB590638 - Synthetic construct DNA, clone: pFN21AB7891, Homo sapiens TCF7L1 gene for transcription factor 7-like 1, without stop codon, in Flexi system.
LF207200 - JP 2014500723-A/14703: Polycomb-Associated Non-Coding RNAs.
LF363070 - JP 2014500723-A/170573: Polycomb-Associated Non-Coding RNAs.
LF363069 - JP 2014500723-A/170572: Polycomb-Associated Non-Coding RNAs.
U15553 - Human Alu repeat-containing mRNA.
JD345845 - Sequence 326869 from Patent EP1572962.
JD540046 - Sequence 521070 from Patent EP1572962.
JD502903 - Sequence 483927 from Patent EP1572962.
JD503320 - Sequence 484344 from Patent EP1572962.
JD244727 - Sequence 225751 from Patent EP1572962.
JD231878 - Sequence 212902 from Patent EP1572962.
JD343564 - Sequence 324588 from Patent EP1572962.
JD526136 - Sequence 507160 from Patent EP1572962.
JD297958 - Sequence 278982 from Patent EP1572962.
JD144478 - Sequence 125502 from Patent EP1572962.
JD221025 - Sequence 202049 from Patent EP1572962.
JD232912 - Sequence 213936 from Patent EP1572962.
JD478982 - Sequence 460006 from Patent EP1572962.
JD426516 - Sequence 407540 from Patent EP1572962.
MA598647 - JP 2018138019-A/170573: Polycomb-Associated Non-Coding RNAs.
MA598646 - JP 2018138019-A/170572: Polycomb-Associated Non-Coding RNAs.
MA442777 - JP 2018138019-A/14703: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9HCS4 (Reactome details) participates in the following event(s):

R-HSA-8944352 TCF/LEF binds WNT promoters
R-HSA-5334050 TCF7L2/TCF7L1 bind CTBP1 to repress WNT target genes
R-HSA-4411351 TCF/LEF:CTNNB1 bind the AXIN2 gene
R-HSA-3364014 Recruitment of SET1 methyltransferase complex
R-HSA-201712 Beta-catenin:TCF associates with BCL9 and PYGO
R-HSA-3322422 Beta-catenin recruits SMARCA4
R-HSA-3322424 Beta-catenin recruits CDC73 and LEO1
R-HSA-3322427 Beta-catenin recruits CBP/p300
R-HSA-3451153 Beta-catenin recruits TRRAP/KAT5 HAT components
R-HSA-5665608 TCF:Beta-catenin binds SOX proteins
R-HSA-8944362 TCF/LEF:CTNNB1 bind canonical WNT target promoters
R-HSA-3299569 Beta-catenin displaces TLE:HDAC1 from TCF/LEF
R-HSA-8944349 TLE tetramers bind TCF/LEF at WNT promoters
R-HSA-4411367 TCF7L1/TCF7L2/LEF1:CTNNB1 bind the MYC gene
R-HSA-8951428 RUNX3 binds CTNNB1:TCF7L2,(LEF1,TCF7L1,TCF7)
R-HSA-3364026 SET1 complex trimethylates H3K4 at the MYC gene
R-HSA-4641231 TLE recruits HDAC1 to WNT promoters
R-HSA-3451147 KAT5 HAT complex acetylates TCF4 gene at histone H4
R-HSA-4641265 Repression of WNT target genes
R-HSA-4411364 Binding of TCF/LEF:CTNNB1 to target gene promoters
R-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-195253 Degradation of beta-catenin by the destruction complex
R-HSA-8951430 RUNX3 regulates WNT signaling
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-3858494 Beta-catenin independent WNT signaling
R-HSA-195721 Signaling by WNT
R-HSA-8878159 Transcriptional regulation by RUNX3
R-HSA-162582 Signal Transduction
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000282111.1, ENST00000282111.2, ENST00000282111.3, NM_031283, Q53R97, Q6PD70, Q9HCS4, Q9NP00, TCF3, TF7L1_HUMAN, uc317jyl.1, uc317jyl.2
UCSC ID: ENST00000282111.4_4
RefSeq Accession: NM_031283.3
Protein: Q9HCS4 (aka TF7L1_HUMAN or T7L1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.