Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
7003 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
TEA domain transcription factor 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
TEAD1 |
SynonymsGene synonyms aliases
|
AA, NTEF-1, REF1, TCF-13, TCF13, TEAD-1, TEF-1 |
ChromosomeChromosome number
|
11 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
11p15.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a ubiquitous transcriptional enhancer factor that is a member of the TEA/ATTS domain family. This protein directs the transactivation of a wide variety of genes and, in placental cells, also acts as a transcriptional repressor. Mutations |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs11567847 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000785 |
Component |
Chromatin |
ISA |
|
GO:0000978 |
Function |
RNA polymerase II cis-regulatory region sequence-specific DNA binding |
IBA |
21873635 |
GO:0000981 |
Function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
IBA |
21873635 |
GO:0000981 |
Function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
IMP |
26045994 |
GO:0000981 |
Function |
DNA-binding transcription factor activity, RNA polymerase II-specific |
ISA |
|
GO:0000987 |
Function |
Cis-regulatory region sequence-specific DNA binding |
IMP |
26045994 |
GO:0003677 |
Function |
DNA binding |
TAS |
8396764 |
GO:0003700 |
Function |
DNA-binding transcription factor activity |
IDA |
18579750, 19324877 |
GO:0003700 |
Function |
DNA-binding transcription factor activity |
IMP |
20123905 |
GO:0005515 |
Function |
Protein binding |
IPI |
9869635, 15140898, 18579750, 19324877, 22863277, 24255178, 24581491, 24882516, 25751139, 25751140, 25796446, 26258633 |
GO:0005654 |
Component |
Nucleoplasm |
IDA |
|
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005667 |
Component |
Transcription regulator complex |
IBA |
21873635 |
GO:0006357 |
Process |
Regulation of transcription by RNA polymerase II |
IBA |
21873635 |
GO:0006367 |
Process |
Transcription initiation from RNA polymerase II promoter |
TAS |
|
GO:0035329 |
Process |
Hippo signaling |
IBA |
21873635 |
GO:0035329 |
Process |
Hippo signaling |
IDA |
18579750, 19324877 |
GO:0045893 |
Process |
Positive regulation of transcription, DNA-templated |
IMP |
20123905 |
GO:0045944 |
Process |
Positive regulation of transcription by RNA polymerase II |
IMP |
25796446 |
GO:0048568 |
Process |
Embryonic organ development |
IBA |
21873635 |
GO:0065003 |
Process |
Protein-containing complex assembly |
IMP |
20123905 |
GO:0140552 |
Component |
TEAD-YAP complex |
IDA |
20123905 |
GO:1902895 |
Process |
Positive regulation of pri-miRNA transcription by RNA polymerase II |
IMP |
26045994 |
GO:1990837 |
Function |
Sequence-specific double-stranded DNA binding |
IDA |
28473536 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
P28347 |
Protein name |
Transcriptional enhancer factor TEF-1 (NTEF-1) (Protein GT-IIC) (TEA domain family member 1) (TEAD-1) (Transcription factor 13) (TCF-13) |
Protein function |
Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cas |
PDB |
2HZD
,
3KYS
,
4RE1
,
4Z8E
,
5NNX
,
6HIL
,
6IM5
,
7CMM
,
7ZJP
,
8Q68
,
9FZA
,
9GAX
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01285 |
TEA |
31 → 100 |
TEA/ATTS domain |
Domain |
PF17725 |
YBD |
214 → 423 |
YAP binding domain |
Domain |
|
Sequence |
|
Sequence length |
426 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Helicoid peripapillary chorioretinal degeneration |
Helicoid peripapillary chorioretinal degeneration |
rs11567847, rs1249149946 |
|
Myopia |
Myopia |
rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023 |
|
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
31374203 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Astigmatism |
Astigmatism |
|
|
Peripapillary chorioretinal atrophy |
Peripapillary chorioretinal atrophy |
|
|
Sveinsson chorioretinal atrophy |
SVEINSSON CHORIORETINAL ATROPHY |
|
15016762, 20123905, 18579750 |
|