• Gene id: 83439

Gene Summary

• Gene Symbol: TCF7L1   Gene   UCSC   Ensembl
• Aliases: TCF-3, TCF3
• Gene name: transcription factor 7 like 1
• Alternate names: transcription factor 7-like 1, HMG box transcription factor 3, transcription factor 7-like 1 (T-cell specific, HMG-box),
• Gene location: 2p11.2 (85133391: 85310386)     Exons: 12     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by beta catenin, mediate the Wnt signaling pathway and are antagonized by the transforming growth factor be
• OMIM: 604652

Protein Summary

• Protein general information: Q9HCS4  
  • Name: Transcription factor 7 like 1 (HMG box transcription factor 3) (TCF 3)
  • Length: 588  
  • Mass: 62631
  • Tissue specificity: Detected in hair follicles and skin keratinocytes, and at lower levels in stomach epithelium. {ECO
• Sequence:

  MPQLGGGGGGGGGGSGGGGGSSAGAAGGGDDLGANDELIPFQDEGGEEQEPSSDSASAQRDLDEVKSSLVNESEN
  QSSSSDSEAERRPQPVRDTFQKPRDYFAEVRRPQDSAFFKGPPYPGYPFLMIPDLSSPYLSNGPLSPGGARTYLQ
  MKWPLLDVPSSATVKDTRSPSPAHLSNKVPVVQHPHHMHPLTPLITYSNDHFSPGSPPTHLSPEIDPKTGIPRPP
  HPSELSPYYPLSPGAVGQIPHPLGWLVPQQGQPMYSLPPGGFRHPYPALAMNASMSSLVSSRFSPHMVAPAHPGL
  PTSGIPHPAIVSPIVKQEPAPPSLSPAVSVKSPVTVKKEEEKKPHVKKPLNAFMLYMKEMRAKVVAECTLKESAA
  INQILGRKWHNLSREEQAKYYELARKERQLHSQLYPTWSARDNYGKKKKRKREKQLSQTQSQQQVQEAEGALASK
  SKKPCVQYLPPEKPCDSPASSHGSMLDSPATPSAALASPAAPAATHSEQAQPLSLTTKPETRAQLALHSAAFLSA
  KAAASSSGQMGSQPPLLSRPLPLGSMPTALLASPPSFPATLHAHQALPVLQAQPLSLVTKSAH

• Structural information:
  • Interpro: IPR027397  IPR013558  IPR009071  IPR036910  IPR024940   IPR028778  
  • Prosite: PS50118
  • STRING: ENSP00000282111
• Other Databases: GeneCards:  TCF7L1  Malacards:  TCF7L1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0016055	Wnt signaling pathway	IBA	biological process
GO:0008013	beta-catenin binding	IBA	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IBA	biological process
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0060070	canonical Wnt signaling pathway	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0060070	canonical Wnt signaling pathway	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:1904837	beta-catenin-TCF complex assembly	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0030111	regulation of Wnt signaling pathway	NAS	biological process
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0003677	DNA binding	NAS	molecular function
GO:0006325	chromatin organization	NAS	biological process
GO:0030111	regulation of Wnt signaling pathway	NAS	biological process
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0005634	nucleus	NAS	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0003677	DNA binding	NAS	molecular function
GO:0006325	chromatin organization	NAS	biological process
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05165	Human papillomavirus infection
hsa05132	Salmonella infection
hsa04310	Wnt signaling pathway
hsa04390	Hippo signaling pathway
hsa05225	Hepatocellular carcinoma
hsa04934	Cushing syndrome
hsa05226	Gastric cancer
hsa05224	Breast cancer
hsa04916	Melanogenesis
hsa05412	Arrhythmogenic right ventricular cardiomyopathy
hsa05210	Colorectal cancer
hsa05215	Prostate cancer
hsa05217	Basal cell carcinoma
hsa04520	Adherens junction
hsa05221	Acute myeloid leukemia
hsa05213	Endometrial cancer
hsa05216	Thyroid cancer

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq