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DEAF1 - DEAF1 transcription factor Gene

Also Known as SPN; NUDR; VSVS; MRD24; ZMYND5; NEDHELS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10522

About DEAF1

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:644,220-707,083 (from NCBI)

This gene has 22 transcripts (splice variants), 1 gene allele, 195 orthologues and is associated with 7 phenotypes. Ubiquitous expression in brain (RPKM 14.6), thyroid (RPKM 8.8) and 25 other tissues.

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 cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

DEAF1 Products (3)

mRNA	Protein	Name
NM_001293634.1	NP_001280563.1	deformed epidermal autoregulatory factor 1 homolog isoform b
NM_001367390.1	NP_001354319.1	deformed epidermal autoregulatory factor 1 homolog isoform c
NM_021008.4	NP_066288.2	deformed epidermal autoregulatory factor 1 homolog isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	24726472	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	24726472	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20368287	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	24726472	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	24726472	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	24726472	GOA
involved in regulation of mammary gland epithelial cell proliferation	IDA IDA: Inferred from direct assay	18826651	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	19668219	GOA
located in nucleus	IDA IDA: Inferred from direct assay	19668219	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DEAF1 Protein Structure

SAND

zf-MYND

0
100
200
300
400
500
565 a.a.

Protein Preferred Names	Protein Names
deformed epidermal autoregulatory factor 1 homolog	nuclear DEAF-1-related transcriptional regulator

DEAF1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DEAF1	O75398	GSK3A	Homo sapiens	P49840	Pull Down	20368287
Intra	DEAF1	O75398	MECP2	Homo sapiens	P51608	Anti Bait CoIP	29636529
Intra	DEAF1	O75398	MECP2	Homo sapiens	P51608	Anti Tag CoIP	29636529
Intra	DEAF1	O75398	MECP2	Homo sapiens	P51608	Pull Down	29636529
Intra	DEAF1	O75398	XRCC6	Homo sapiens	P12956	Anti Tag CoIP	22442688
Intra	DEAF1	O75398	XRCC6	Homo sapiens	P12956	Pull Down	22442688
Intra	DEAF1	O75398	TARDBP	Homo sapiens	Q13148	Validated Y2H	32814053
Intra	DEAF1	O75398	TARDBP	Homo sapiens	Q13148	Y2H Array	32814053
Intra	DEAF1	O75398	TARDBP	Homo sapiens	Q13148	Y2H Pooling	32814053
Intra	DEAF1	O75398	GSK3B	Homo sapiens	P49841	Pull Down	20368287
Intra	DEAF1	O75398	GSK3B	Homo sapiens	P49841	Protein Kinase Assay	20368287
Intra	DEAF1	O75398	CDKN2A	Homo sapiens	P42771	Anti Tag CoIP	21988832
Intra	DEAF1	O75398	CDKN2A	Homo sapiens	P42771	Y2H	21988832
Intra	DEAF1	O75398	FHL2	Homo sapiens	Q14192	Validated Y2H	32296183
Intra	DEAF1	O75398	FHL2	Homo sapiens	Q14192	Anti Tag CoIP	33961781
Intra	DEAF1	O75398	CEP76	Homo sapiens	Q8TAP6	Y2H Prey Pooling	32296183
Intra	DEAF1	O75398	CEP76	Homo sapiens	Q8TAP6	Validated Y2H	32296183
Intra	DEAF1	O75398	CEP76	Homo sapiens	Q8TAP6	Y2H Array	32296183
Intra	DEAF1	O75398	SNCA	Homo sapiens	P37840	Validated Y2H	32814053
Intra	DEAF1	O75398	SNCA	Homo sapiens	P37840	Y2H Array	32814053
Intra	DEAF1	O75398	SNCA	Homo sapiens	P37840	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Dyskinesia, Seizures, And Intellectual Developmental Disorder Intellectual Disability-Epilepsy-Extrapyramidal Syndrome NEDHELS Dyseidd Neurodevelopmental Disorder With Hypotonia, Impaired Expressive Language, And With Or Without Seizures
Vulto-Van Silfhout-De Vries Syndrome	Vulto-Van Silfout-De Vries Syndrome VSVS Intellectual Developmental Disorder With Impaired Expressive Speech And Behavioral Abnormalities, With Or Without Seizures Iddisbas Mrd24 Mental Retardation, Autosomal Dominant 24 Autosomal Dominant Mental Retardation 24 Autosomal Dominant Non-Syndromic Intellectual Disability 24 Mental Retardation, Autosomal Dominant, Type 24
Autosomal Dominant Non-Syndromic Intellectual Disability
Smith-Magenis Syndrome	SMS Chromosome 17p11.2 Deletion Syndrome 17p11.2 Microdeletion Syndrome 17p11.2 Monosomy Chromosome 17p Deletion Syndrome Del(17) P11.2 17p- Syndrome Deletion 17p Syndrome Partial Monosomy 17p
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Autoimmune Polyendocrine Syndrome Type 1	Whitaker Syndrome Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Autoimmune Polyglandular Syndrome I Polyglandular Type I Autoimmune Syndrome
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Major Depressive Disorder	Seasonal Affective Disorder Unipolar Depression Depression MDD Depressive Disorder Unipolar Depression, Susceptibility To Major Depressive Disorder 1 Major Depressive Disorder, Response To Citalopram Therapy In Major Depressive Disorder 2 Winter Depression Single Major Depressive Episode Sad Clinical Depression Major Depression Depressive Syndrome Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment Seasonal Affective Disorder, Susceptibility To Recurrent Major Depression Affective Disorder, Seasonal Depression In A Seasonal Pattern Depression Seasonal Major Depressive Disorder With A Seasonal Pattern Seasonal Depression Seasonal Mood Disorder Mental Depression Recurrent Major Depressive Episodes
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-W004705	(2-Aminophenyl)methanol		99.82%	Phase 2

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-E70231	Thrombin-like enzyme		/	Unkown
HY-RS03666	DEAF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	DEAF1	VGNC	VGNC:61422
Mus musculus	DEAF1	MGD	MGI:1858496
Bos taurus	DEAF1	VGNC	VGNC:106706
Rattus norvegicus	DEAF1	RGD	RGD:620671
Canis familiaris	DEAF1	VGNC	VGNC:39870
Macaca mulatta	DEAF1	VGNC	VGNC:71624
Others	DEAF1	NCBI