DEAF1

DEAF1
Identifiers
Aliases	DEAF1, MRD24, NUDR, SPN, ZMYND5, transcription factor, DEAF1 transcription factor, NEDHELS, VSVS
External IDs	OMIM: 602635; MGI: 1858496; GeneCards: DEAF1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2JW6, 4A24
Gene location (Human) Chr. Chromosome 11 (human) Band 11p15.5 Start 644,233 bp End 707,118 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7|7 F5 Start 140,877,093 bp End 140,907,603 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in amygdala hippocampus proper anterior cingulate cortex right frontal lobe prefrontal cortex dorsolateral prefrontal cortex nucleus accumbens right hemisphere of cerebellum putamen hypothalamus Top expressed in dentate gyrus of hippocampal formation granule cell tail of embryo neural layer of retina Meckel's cartilage genital tubercle ventricular zone superior frontal gyrus lacrimal gland primary visual cortex lip More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding DNA-binding transcription factor activity metal ion binding protein binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component cytoplasm transcription regulator complex extracellular region fibrillar center nucleus Biological process visual learning germ cell development regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II anatomical structure morphogenesis regulation of mammary gland epithelial cell proliferation transcription by RNA polymerase II behavioral fear response transcription, DNA-templated nervous system development embryonic skeletal system development positive regulation of transcription, DNA-templated multicellular organism development neural tube closure negative regulation of transcription, DNA-templated negative regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 10522 54006 Ensembl ENSG00000282712 ENSG00000177030 ENSMUSG00000058886 UniProt O75398 Q9Z1T5 RefSeq (mRNA) NM_001293634 NM_021008 NM_001367390 NM_001282072 NM_001282073 NM_001282076 NM_016874 RefSeq (protein) NP_001280563 NP_066288 NP_001354319 NP_001269001 NP_001269002 NP_001269005 NP_058570 Location (UCSC) Chr 11: 0.64 – 0.71 Mb Chr 7: 140.88 – 140.91 Mb PubMed search
Wikidata
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The DEAF1 transcription factor (HGNC:14677) (or "deformed epidermal autoregulatory factor 1) is a protein coded by the gene DEAF1 in humans. It is a member of the Zinc finger protein and MYND-type protein. It and its orthologs are found in vertebrate and some invertebrate genuses, notably Drosophila.

Pathology

Mutations affecting the SAND Domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral troubles.

DEAF1 was implicated in muscle dysregulation during aging by switching on excess activity in the mTORC1 transcription factor and disrupting protein exchange. In mice models, physical activity was reported to lower DEAF1 levels, allowing protein exchange to normalize.