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TCF7 transcription factor 7 (T-cell specific, HMG-box) [ Homo sapiens (human) ]

Gene ID: 6932, updated on 8-May-2016
Official Symbol
TCF7provided by HGNC
Official Full Name
transcription factor 7 (T-cell specific, HMG-box)provided by HGNC
Primary source
HGNC:HGNC:11639
See related
Ensembl:ENSG00000081059 HPRD:01797; MIM:189908; Vega:OTTHUMG00000129124
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TCF-1
Summary
The protein encoded by this gene is a transcriptional activator that plays an important role in lymphocyte differentiation. This gene is expressed predominantly in T-cells. The encoded protein can bind an enhancer element and activate the CD3E gene, and it also may repress the CTNNB1 and TCF7L2 genes through a feedback mechanism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Orthologs
Location:
5q31.1
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (134114703..134148229)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (133450402..133483920)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379185 Neighboring gene uncharacterized protein C7orf73-like Neighboring gene uncharacterized LOC105379184 Neighboring gene S-phase kinase-associated protein 1 Neighboring gene protein phosphatase 2 catalytic subunit alpha Neighboring gene microRNA 3661

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog
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  • Binding of TCF/LEF:CTNNB1 to target gene promoters, organism-specific biosystem (from REACTOME)
    Binding of TCF/LEF:CTNNB1 to target gene promoters, organism-specific biosystemThe genes regulated by beta-catenin and TCF/LEF are involved in a diverse range of functions in cellular proliferation, differentiation, embryogenesis and tissue homeostasis, and include transcriptio...
  • Ca2+ pathway, organism-specific biosystem (from REACTOME)
    Ca2+ pathway, organism-specific biosystemA number of so called non-canonical WNT ligands have been shown to promote intracellular calcium release upon FZD binding. This beta-catenin-independent WNT pathway acts through heterotrimeric G pro...
  • Colorectal cancer, organism-specific biosystem (from KEGG)
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  • Deactivation of the beta-catenin transactivating complex, organism-specific biosystem (from REACTOME)
    Deactivation of the beta-catenin transactivating complex, organism-specific biosystemThe mechanisms involved in downregulation of TCF-dependent transcription are not yet very well understood. beta-catenin is known to recruit a number of transcriptional repressors, including Reptin, S...
  • Degradation of beta-catenin by the destruction complex, organism-specific biosystem (from REACTOME)
    Degradation of beta-catenin by the destruction complex, organism-specific biosystemThe beta-catenin destruction complex plays a key role in the canonical Wnt signaling pathway. In the absence of Wnt signaling, this complex controls the levels of cytoplamic beta-catenin. Beta-cateni...
  • Endometrial cancer, organism-specific biosystem (from KEGG)
    Endometrial cancer, organism-specific biosystemEndometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endom...
  • Endometrial cancer, conserved biosystem (from KEGG)
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  • Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystem (from REACTOME)
    Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystemOnce in the nucleus, beta-catenin is recruited to WNT target genes through interaction with TCF/LEF transcription factors. This family, which consists of TCF7 (also known as TCF1), TCF7L1 (also known...
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
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  • Melanogenesis, organism-specific biosystem (from KEGG)
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  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
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  • Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem (from Pathway Interaction Database)
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  • Repression of WNT target genes, organism-specific biosystem (from REACTOME)
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  • Signal Transduction, organism-specific biosystem (from REACTOME)
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  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
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  • Thyroid cancer, organism-specific biosystem (from KEGG)
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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ36364, MGC47735

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-catenin binding IDA
Inferred from Direct Assay
more info
PubMed 
core promoter binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
T cell receptor V(D)J recombination IEA
Inferred from Electronic Annotation
more info
 
alpha-beta T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
beta-catenin-TCF complex assembly TAS
Traceable Author Statement
more info
 
canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
canonical Wnt signaling pathway involved in negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cellular response to interleukin-4 IDA
Inferred from Direct Assay
more info
PubMed 
embryonic digestive tract morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic genitalia morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic hindgut morphogenesis IEA
Inferred from Electronic Annotation
more info
 
immune response TAS
Traceable Author Statement
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
neural tube development IEA
Inferred from Electronic Annotation
more info
 
regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear euchromatin IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
transcription factor 7
Names
T-cell-specific transcription factor 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030367.1 RefSeqGene

    Range
    5001..38519
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001134851.2NP_001128323.2  transcription factor 7 isoform 3

    See identical proteins and their annotated locations for NP_001128323.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream start codon, and differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC011336, DA627229, X59869, X59871
    Consensus CDS
    CCDS47263.2
    UniProtKB/Swiss-Prot
    P36402
    Related
    ENSP00000430179, OTTHUMP00000227349, ENST00000518915, OTTHUMT00000379979
    Conserved Domains (2) summary
    cd01388
    Location:154224
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam08347
    Location:197
    CTNNB1_binding; N-terminal CTNNB1 binding
  2. NM_003202.3NP_003193.2  transcription factor 7 isoform 1

    See identical proteins and their annotated locations for NP_003193.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC011336, AK131428, BC048769
    Consensus CDS
    CCDS4169.1
    UniProtKB/Swiss-Prot
    P36402
    Related
    ENSP00000340347, OTTHUMP00000159389, ENST00000342854, OTTHUMT00000251172
    Conserved Domains (2) summary
    cd01388
    Location:269339
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam08347
    Location:1212
    CTNNB1_binding; N-terminal CTNNB1 binding
  3. NM_201632.3NP_963963.1  transcription factor 7 isoform 2

    See identical proteins and their annotated locations for NP_963963.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 1. Both variants 2 and 5 encode the same isoform.
    Source sequence(s)
    AC011336, DA627229, X59870
    Consensus CDS
    CCDS4170.1
    UniProtKB/Swiss-Prot
    P36402
    Related
    ENSP00000378469, OTTHUMP00000159391, ENST00000395023, OTTHUMT00000251174
    Conserved Domains (2) summary
    cd01388
    Location:154224
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam08347
    Location:197
    CTNNB1_binding; N-terminal CTNNB1 binding
  4. NM_201634.3NP_963965.1  transcription factor 7 isoform 4

    See identical proteins and their annotated locations for NP_963965.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream start codon, and differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (4) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC011336, DA627229, X59871
    Consensus CDS
    CCDS43362.1
    UniProtKB/Swiss-Prot
    P36402
    Related
    ENSP00000367822, OTTHUMP00000227347, ENST00000378560, OTTHUMT00000379977
    Conserved Domains (2) summary
    cd01388
    Location:154224
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam08347
    Location:197
    CTNNB1_binding; N-terminal CTNNB1 binding
  5. NM_213648.3NP_998813.1  transcription factor 7 isoform 2

    See identical proteins and their annotated locations for NP_998813.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 1. Both variants 2 and 5 encode the same isoform.
    Source sequence(s)
    AC011336, AK093530, DA627229, DB137814, X59870
    Consensus CDS
    CCDS4170.1
    UniProtKB/Swiss-Prot
    P36402
    Related
    ENSP00000429547, OTTHUMP00000227348, ENST00000520958, OTTHUMT00000379978
    Conserved Domains (2) summary
    cd01388
    Location:154224
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam08347
    Location:197
    CTNNB1_binding; N-terminal CTNNB1 binding

RNA

  1. NR_033449.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in its exon structure at the 5' end, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variants 2-5, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC008608, AC011336, AK057580, X59871

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

    Range
    134114703..134148229
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714682.2XP_006714745.1  

    Conserved Domains (2) summary
    cd01388
    Location:300370
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam08347
    Location:1212
    CTNNB1_binding; N-terminal CTNNB1 binding
  2. XM_006714680.2XP_006714743.1  

    Conserved Domains (2) summary
    cd01388
    Location:300370
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam08347
    Location:1212
    CTNNB1_binding; N-terminal CTNNB1 binding
  3. XM_006714684.2XP_006714747.1  

    UniProtKB/Swiss-Prot
    P36402
    Conserved Domains (2) summary
    cd01388
    Location:269339
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam08347
    Location:1212
    CTNNB1_binding; N-terminal CTNNB1 binding
  4. XM_011543606.1XP_011541908.1  

    Conserved Domains (2) summary
    cd01388
    Location:300370
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam08347
    Location:1212
    CTNNB1_binding; N-terminal CTNNB1 binding
  5. XM_011543605.1XP_011541907.1  

    Conserved Domains (2) summary
    cd01388
    Location:300370
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam08347
    Location:1212
    CTNNB1_binding; N-terminal CTNNB1 binding
  6. XM_011543604.1XP_011541906.1  

    Conserved Domains (2) summary
    cd01388
    Location:300370
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam08347
    Location:1212
    CTNNB1_binding; N-terminal CTNNB1 binding
  7. XM_006714678.2XP_006714741.1  

    Conserved Domains (2) summary
    cd01388
    Location:300370
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam08347
    Location:1212
    CTNNB1_binding; N-terminal CTNNB1 binding
  8. XM_006714679.2XP_006714742.1  

    Conserved Domains (2) summary
    cd01388
    Location:269339
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam08347
    Location:1212
    CTNNB1_binding; N-terminal CTNNB1 binding
  9. XM_006714686.2XP_006714749.1  

    Conserved Domains (2) summary
    cd01388
    Location:154224
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam08347
    Location:197
    CTNNB1_binding; N-terminal CTNNB1 binding
  10. XM_006714685.2XP_006714748.1  

    Conserved Domains (2) summary
    cd01388
    Location:185255
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam08347
    Location:197
    CTNNB1_binding; N-terminal CTNNB1 binding
  11. XM_011543610.1XP_011541912.1  

    See identical proteins and their annotated locations for XP_011541912.1

    Conserved Domains (1) summary
    cd01388
    Location:98168
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
  12. XM_011543613.1XP_011541915.1  

    Conserved Domains (1) summary
    cd01388
    Location:67137
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
  13. XM_011543608.1XP_011541910.1  

    Conserved Domains (2) summary
    cd01388
    Location:160230
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam08347
    Location:1272
    CTNNB1_binding; N-terminal CTNNB1 binding
  14. XM_011543612.1XP_011541914.1  

    Conserved Domains (2) summary
    cd01388
    Location:129199
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam08347
    Location:1272
    CTNNB1_binding; N-terminal CTNNB1 binding
  15. XM_011543609.1XP_011541911.1  

    Conserved Domains (2) summary
    cd01388
    Location:129199
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam08347
    Location:1272
    CTNNB1_binding; N-terminal CTNNB1 binding
  16. XM_011543607.1XP_011541909.1  

    Conserved Domains (2) summary
    cd01388
    Location:181251
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam08347
    Location:3393
    CTNNB1_binding; N-terminal CTNNB1 binding
  17. XM_011543611.1XP_011541913.1  

    See identical proteins and their annotated locations for XP_011541913.1

    Conserved Domains (1) summary
    cd01388
    Location:98168
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
  18. XM_006714687.2XP_006714750.1  

    See identical proteins and their annotated locations for XP_006714750.1

    Conserved Domains (1) summary
    cd01388
    Location:98168
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

RNA

  1. XR_948292.1 RNA Sequence

    Related
    ENST00000395029, OTTHUMT00000251173
  2. XR_948293.1 RNA Sequence

  3. XR_948294.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    132882980..132916497
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001134852.1: Suppressed sequence

    Description
    NM_001134852.1: This RefSeq was temporarily suppressed because the CDS may possibly be 5''-partial, and the nature of its 5'' end is unclear.