Homo sapiens Gene: DEAF1
Summary
InnateDB Gene IDBG-17595.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DEAF1
Gene Name deformed epidermal autoregulatory factor 1 (Drosophila)
Synonyms MRD24; NUDR; SPN; ZMYND5
Species Homo sapiens
Ensembl Gene ENSG00000177030
Encoded Proteins
deformed epidermal autoregulatory factor 1 (Drosophila)
deformed epidermal autoregulatory factor 1 (Drosophila)
deformed epidermal autoregulatory factor 1 (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:644233-706715
Strand Reverse strand
Band p15.5
Transcripts
ENST00000382409 ENSP00000371846
ENST00000527170 ENSP00000431563
ENST00000527658
ENST00000525904
ENST00000530813
ENST00000526790
ENST00000529717 ENSP00000432518
ENST00000525626
ENST00000528864
ENST00000524786
ENST00000529727
ENST00000526857
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 33 experimentally validated interaction(s) in this database.
Experimentally validated
Total 33 [view]
Protein-Protein 33 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0046872 metal ion binding
Biological Process
GO:0001843 neural tube closure
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007281 germ cell development
GO:0009653 anatomical structure morphogenesis
GO:0033599 regulation of mammary gland epithelial cell proliferation
GO:0048706 embryonic skeletal system development
Cellular Component
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.243994
RefSeq NM_021008
HUGO
OMIM
CCDS CCDS31327
HPRD 04027
IMGT
EMBL
GenPept
RNA Seq Atlas