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Aliases for DEAF1 Gene

Aliases for DEAF1 Gene

  • DEAF1, Transcription Factor 2 3 5
  • Nuclear DEAF-1-Related Transcriptional Regulator 3 4
  • Zinc Finger MYND Domain-Containing Protein 5 3 4
  • Suppressin 3 4
  • ZMYND5 3 4
  • NUDR 3 4
  • SPN 3 4
  • Deformed Epidermal Autoregulatory Factor 1 (Drosophila) 2
  • DEAF1 Transcription Factor 3
  • MRD24 3

External Ids for DEAF1 Gene

Previous GeneCards Identifiers for DEAF1 Gene

  • GC11U990192
  • GC11P000842
  • GC11P000502
  • GC11M000637
  • GC11M000638
  • GC11M000634
  • GC11M000460

Summaries for DEAF1 Gene

Entrez Gene Summary for DEAF1 Gene

  • 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]

GeneCards Summary for DEAF1 Gene

DEAF1 (DEAF1, Transcription Factor) is a Protein Coding gene. Diseases associated with DEAF1 include mental retardation, autosomal dominant 24 and autosomal dominant non-syndromic intellectual disability. Among its related pathways are SIDS Susceptibility Pathways. An important paralog of this gene is RUNX1T1.

UniProtKB/Swiss-Prot for DEAF1 Gene

  • Transcription factor that binds to sequence with multiple copies of 5-TTC[CG]G-3 present in its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE) 5-AGGGTTCACCGAAAGTTCA-3. Activates the proenkephalin gene independently of promoter binding, probably through protein-protein interaction. When secreted, behaves as an inhibitor of cell proliferation, by arresting cells in the G0 or G1 phase. Required for neural tube closure and skeletal patterning. Regulates epithelial cell proliferation and side-branching in the mammary gland. Controls the expression of peripheral tissue antigens in pancreatic lymph nodes. Isoform 1 displays greater transcriptional activity than isoform 4. Isoform 4 may inhibit transcriptional activity of isoform 1 by interacting with isoform 1 and retaining it in the cytoplasm. Transcriptional activator of EIF4G3.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEAF1 Gene

Genomics for DEAF1 Gene

Regulatory Elements for DEAF1 Gene

Enhancers for DEAF1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DEAF1 on UCSC Golden Path with GeneCards custom track

Promoters for DEAF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DEAF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DEAF1 Gene

Chromosome:
11
Start:
644,220 bp from pter
End:
706,715 bp from pter
Size:
62,496 bases
Orientation:
Minus strand

Genomic View for DEAF1 Gene

Genes around DEAF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEAF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEAF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEAF1 Gene

Proteins for DEAF1 Gene

  • Protein details for DEAF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75398-DEAF1_HUMAN
    Recommended name:
    Deformed epidermal autoregulatory factor 1 homolog
    Protein Accession:
    O75398
    Secondary Accessions:
    • A8K1F8
    • A8K5R8
    • C7T5V5
    • O15152
    • O75399
    • O75510
    • O75511
    • O75512
    • O75513
    • Q9UET1

    Protein attributes for DEAF1 Gene

    Size:
    565 amino acids
    Molecular mass:
    59327 Da
    Quaternary structure:
    • Homodimer. Isoform 1 and isoform 4 may form a heterodimer. Interacts with LMO2 and CLIM2 (By similarity). Interacts with LMO4; LMO4 blocks export from nucleus (By similarity). May interact with the corepressors NCOR1 and NCRO2. Identified in a complex with the XRCC5 and XRCC6 heterodimer. Interacts (via the SAND domain) with the DNA-PK complex subunit XRCC6; the interaction is direct and may be inhibited by DNA-binding.
    Miscellaneous:
    • Defective DEAF1 could confer a growth advantage to the mutated cells influencing the development and progression of neoplasia, e.g. in the case of colorectal carcinomas. Subcellular location in colorectal carcinomas (cytoplasmic or nuclear) is a prognostic factor that identifies a subgroup of patients with reduced survival. In addition, changes in the subcellular location correlates with the proliferative status of the cells.
    SequenceCaution:
    • Sequence=AAC25718.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors.; Evidence={ECO:0000305}; Sequence=AAC25719.1; Type=Frameshift; Positions=222, 236; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DEAF1 Gene

    Alternative splice isoforms for DEAF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DEAF1 Gene

Proteomics data for DEAF1 Gene at MOPED

Post-translational modifications for DEAF1 Gene

  • May be phosphorylated by DNA-PK complex in a DNA independent manner (in vitro).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DEAF1 Gene

No data available for DME Specific Peptides for DEAF1 Gene

Domains & Families for DEAF1 Gene

Gene Families for DEAF1 Gene

Protein Domains for DEAF1 Gene

Suggested Antigen Peptide Sequences for DEAF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75398

UniProtKB/Swiss-Prot:

DEAF1_HUMAN :
  • Contains 1 SAND domain.
  • Contains 1 MYND-type zinc finger.
Domain:
  • Contains 1 SAND domain.
Similarity:
  • Contains 1 MYND-type zinc finger.
genes like me logo Genes that share domains with DEAF1: view

Function for DEAF1 Gene

Molecular function for DEAF1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that binds to sequence with multiple copies of 5-TTC[CG]G-3 present in its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE) 5-AGGGTTCACCGAAAGTTCA-3. Activates the proenkephalin gene independently of promoter binding, probably through protein-protein interaction. When secreted, behaves as an inhibitor of cell proliferation, by arresting cells in the G0 or G1 phase. Required for neural tube closure and skeletal patterning. Regulates epithelial cell proliferation and side-branching in the mammary gland. Controls the expression of peripheral tissue antigens in pancreatic lymph nodes. Isoform 1 displays greater transcriptional activity than isoform 4. Isoform 4 may inhibit transcriptional activity of isoform 1 by interacting with isoform 1 and retaining it in the cytoplasm. Transcriptional activator of EIF4G3.
genes like me logo Genes that share phenotypes with DEAF1: view

Human Phenotype Ontology for DEAF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DEAF1 Gene

MGI Knock Outs for DEAF1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for DEAF1 Gene

Localization for DEAF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEAF1 Gene

Isoform 1: Nucleus. Cytoplasm. Note=Cytoplasmic in non-mucinous colorectal carcinoma. When expressed alone, localized almost exclusively in the nucleus but, when expressed with isoform 4, nuclear expression decreases to 32% and cytoplasmic expression increases by 270%.
Isoform 2: Secreted. Note=Secreted in some cell types.
Isoform 3: Secreted. Note=Secreted in some cell types.
Isoform 4: Cytoplasm. Nucleus. Note=When expressed alone, localizes mainly in the cytoplasm but, when expressed with isoform 1, nuclear localization is enhanced.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEAF1 Gene COMPARTMENTS Subcellular localization image for DEAF1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
mitochondrion 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for DEAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with DEAF1: view

Pathways & Interactions for DEAF1 Gene

SuperPathways for DEAF1 Gene

genes like me logo Genes that share pathways with DEAF1: view

Pathways by source for DEAF1 Gene

1 BioSystems pathway for DEAF1 Gene

Gene Ontology (GO) - Biological Process for DEAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001662 behavioral fear response IEA --
GO:0001843 neural tube closure IEA,ISS --
GO:0007281 germ cell development TAS 9773984
GO:0009653 anatomical structure morphogenesis TAS 9773984
GO:0045892 negative regulation of transcription, DNA-templated IDA 24726472
genes like me logo Genes that share ontologies with DEAF1: view

No data available for SIGNOR curated interactions for DEAF1 Gene

Drugs & Compounds for DEAF1 Gene

(2) Drugs for DEAF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with DEAF1: view

Transcripts for DEAF1 Gene

Unigene Clusters for DEAF1 Gene

DEAF1 transcription factor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DEAF1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b · 16c
SP1: - - - - - - -
SP2: - - - - -
SP3: - - - - - - - -
SP4: - - -
SP5: - -
SP6:
SP7:
SP8: -

Relevant External Links for DEAF1 Gene

GeneLoc Exon Structure for
DEAF1
ECgene alternative splicing isoforms for
DEAF1

Expression for DEAF1 Gene

mRNA expression in normal human tissues for DEAF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DEAF1 Gene

This gene is overexpressed in Testis (38.4), Peripheral blood mononuclear cells (13.4), and Blymphocyte (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DEAF1 Gene



SOURCE GeneReport for Unigene cluster for DEAF1 Gene Hs.243994

mRNA Expression by UniProt/SwissProt for DEAF1 Gene

O75398-DEAF1_HUMAN
Tissue specificity: Expressed in various tissues and cells such as in peripheral mononuclear cells and hormone-secreting pituitary cells. Expression in pancreatic lymph nodes of patients with type 1 diabetes is 20 times higher than in healthy controls. Highly expressed in fetal and adult brain.
genes like me logo Genes that share expression patterns with DEAF1: view

Protein tissue co-expression partners for DEAF1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for DEAF1 Gene

Orthologs for DEAF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DEAF1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DEAF1 35
  • 88.28 (n)
  • 96.9 (a)
dog
(Canis familiaris)
Mammalia DEAF1 35
  • 86.84 (n)
  • 93.27 (a)
DEAF1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Deaf1 35
  • 85.07 (n)
  • 93.45 (a)
Deaf1 16
Deaf1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DEAF1 35
  • 99.71 (n)
  • 99.82 (a)
DEAF1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Deaf1 35
  • 85.96 (n)
  • 93.81 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 17 (a)
ManyToMany
chicken
(Gallus gallus)
Aves DEAF1 35
  • 77.74 (n)
  • 84.04 (a)
DEAF1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DEAF1 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia deaf1 35
  • 68.47 (n)
  • 70.65 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc:194895 35
  • 65.7 (n)
  • 64.13 (a)
DEAF1 36
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Deaf1 37
  • 54 (a)
Deaf1 36
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10589 36
  • 26 (a)
OneToOne
Species with no ortholog for DEAF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DEAF1 Gene

ENSEMBL:
Gene Tree for DEAF1 (if available)
TreeFam:
Gene Tree for DEAF1 (if available)

Paralogs for DEAF1 Gene

Paralogs for DEAF1 Gene

(1) SIMAP similar genes for DEAF1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DEAF1: view

Variants for DEAF1 Gene

Sequence variations from dbSNP and Humsavar for DEAF1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_013725 A primary colorectal cancer
VAR_013726 A primary colorectal cancer
VAR_013727 A primary colorectal cancer
VAR_013729 A primary colorectal cancer
VAR_013730 A primary colorectal cancer

Structural Variations from Database of Genomic Variants (DGV) for DEAF1 Gene

Variant ID Type Subtype PubMed ID
dgv182e199 CNV Deletion 23128226
dgv920n71 CNV Loss 21882294
dgv921n71 CNV Loss 21882294
dgv922n71 CNV Loss 21882294
nsv469923 CNV Loss 18288195
essv23843 CNV CNV 17122850
nsv896545 CNV Loss 21882294
dgv935n71 CNV Loss 21882294
dgv936n71 CNV Loss 21882294
nsv467635 CNV Loss 19166990
dgv940n71 CNV Loss 21882294
dgv941n71 CNV Loss 21882294
nsv896570 CNV Loss 21882294
dgv942n71 CNV Loss 21882294
nsv832043 CNV Loss 17160897
esv2059951 CNV Deletion 18987734
esv2743858 CNV Deletion 23290073
esv1332182 CNV Deletion 17803354
esv2666818 CNV Deletion 23128226
esv2743859 CNV Deletion 23290073
esv2743860 CNV Deletion 23290073
esv2743861 CNV Deletion 23290073
dgv143e201 CNV Deletion 23290073
esv2743862 CNV Deletion 23290073
dgv144e201 CNV Deletion 23290073
esv2743865 CNV Deletion 23290073
esv1304503 CNV Deletion 17803354
esv988150 CNV Deletion 20482838
esv2743867 CNV Deletion 23290073
esv2412904 CNV Deletion 18987734
nsv512198 CNV Loss 21212237
esv2544843 CNV Deletion 19546169
esv2320149 CNV Deletion 18987734
esv2743868 CNV Deletion 23290073
nsv896573 CNV Loss 21882294
dgv943n71 CNV Loss 21882294
dgv944n71 CNV Loss 21882294
nsv896578 CNV Loss 21882294
nsv896579 CNV Loss 21882294

Variation tolerance for DEAF1 Gene

Residual Variation Intolerance Score: 18.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.99; 36.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEAF1 Gene

HapMap Linkage Disequilibrium report
DEAF1
Human Gene Mutation Database (HGMD)
DEAF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEAF1 Gene

Disorders for DEAF1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DEAF1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 24
  • mrd24
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
- elite association - COSMIC cancer census association via MalaCards
Search DEAF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DEAF1_HUMAN
  • Mental retardation, autosomal dominant 24 (MRD24) [MIM:615828]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:21076407, ECO:0000269 PubMed:24726472}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DEAF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEAF1
genes like me logo Genes that share disorders with DEAF1: view

No data available for Genatlas for DEAF1 Gene

Publications for DEAF1 Gene

  1. Characterization of a nuclear deformed epidermal autoregulatory factor-1 (DEAF-1)-related (NUDR) transcriptional regulator protein. (PMID: 9773984) Huggenvik J.I. … Mowen K.A. (Mol. Endocrinol. 1998) 2 3 4 23 67
  2. Gender-specific decrease in NUDR and 5-HT1A receptor proteins in the prefrontal cortex of subjects with major depressive disorder. (PMID: 18561871) Szewczyk B. … Austin M.C. (Int. J. Neuropsychopharmacol. 2009) 3 23
  3. Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism. (PMID: 19565498) Egli R.J. … Loughlin J. (Arthritis Rheum. 2009) 3 23
  4. Identification of a nuclear export signal and protein interaction domains in deformed epidermal autoregulatory factor-1 (DEAF-1). (PMID: 15161925) Jensik P.J. … Collard M.W. (J. Biol. Chem. 2004) 3 23
  5. Altered subcellular localization of suppressin, a novel inhibitor of cell-cycle entry, is an independent prognostic factor in colorectal adenocarcinomas. (PMID: 11705868) Manne U. … Grizzle W.E. (Clin. Cancer Res. 2001) 3 23

Products for DEAF1 Gene

Sources for DEAF1 Gene

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