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TEAD1 TEA domain transcription factor 1 [ Homo sapiens (human) ]

Gene ID: 7003, updated on 7-Apr-2024

Summary

Official Symbol
TEAD1provided by HGNC
Official Full Name
TEA domain transcription factor 1provided by HGNC
Primary source
HGNC:HGNC:11714
See related
Ensembl:ENSG00000187079 MIM:189967; AllianceGenome:HGNC:11714
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
AA; REF1; TCF13; TEF-1; NTEF-1; TCF-13; TEAD-1
Summary
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 in this gene cause Sveinsson's chorioretinal atrophy. Additional transcript variants have been described but their full-length natures have not been experimentally verified. [provided by RefSeq, May 2010]
Expression
Ubiquitous expression in fat (RPKM 17.6), esophagus (RPKM 16.7) and 24 other tissues See more
Orthologs
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Genomic context

Location:
11p15.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (12674421..12944737)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (12766927..13037265)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (12695968..12966284)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene parvin alpha Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:12474119-12474620 Neighboring gene Sharpr-MPRA regulatory region 15612/8581 Neighboring gene Sharpr-MPRA regulatory region 1666 Neighboring gene uncharacterized LOC105376556 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:12658187-12658688 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:12658689-12659188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3162 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:12696795-12697609 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:12697610-12698423 Neighboring gene TEAD1 intron CAGE-defined low expression enhancer 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:12701865-12702582 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:12702583-12703300 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:12703301-12704018 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:12714955-12716154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:12736558-12737398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3163 Neighboring gene Sharpr-MPRA regulatory region 14023 Neighboring gene Sharpr-MPRA regulatory region 9596 Neighboring gene Sharpr-MPRA regulatory region 5264 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:12788587-12789086 Neighboring gene Sharpr-MPRA regulatory region 13244 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:12809225-12809732 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:12809733-12810240 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:12810874-12811512 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:12830522-12831193 Neighboring gene uncharacterized LOC107984313 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:12849868-12850506 Neighboring gene VISTA enhancer hs1314 Neighboring gene Sharpr-MPRA regulatory region 11610 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:12897776-12898276 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:12902094-12903038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:12910458-12910966 Neighboring gene uncharacterized LOC124900312 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:12935478-12936342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:12936343-12937206 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3164 Neighboring gene long intergenic non-protein coding RNA 958 Neighboring gene RASSF10 divergent transcript

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Helicoid peripapillary chorioretinal degeneration
MedGen: C1862382 OMIM: 108985 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ17970

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of TEAD-YAP complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of TEAD-YAP complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
part_of transcription regulator complex IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
transcriptional enhancer factor TEF-1
Names
TEA domain family member 1 (SV40 transcriptional enhancer factor)
protein GT-IIC
transcription factor 13
transcriptional enhancer factor 1

NCBI Reference Sequences (RefSeq)

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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_021302.1 RefSeqGene

    Range
    5000..275316
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021961.6 → NP_068780.2  transcriptional enhancer factor TEF-1

    See identical proteins and their annotated locations for NP_068780.2

    Status: REVIEWED

    Source sequence(s)
    AB209858, AC107881, BC115398, BG720371, BU172369, CA420177, CN420966, DR000961
    Consensus CDS
    CCDS7810.2
    UniProtKB/Swiss-Prot
    A4FUP2, E7EV65, P28347
    UniProtKB/TrEMBL
    H0YE88
    Related
    ENSP00000435233.2, ENST00000527636.7
    Conserved Domains (1) summary
    smart00426
    Location:30 → 97
    TEA; TEA domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    12674421..12944737
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    12766927..13037265
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)