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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
  • Deformed Epidermal Autoregulatory Factor 1 Homolog 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 cognitive disability. 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 Dyskinesia, Seizures, And Intellectual Developmental Disorder and Mental Retardation, Autosomal Dominant 24. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. An important paralog of this gene is CBFA2T3.

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.

Additional gene information for DEAF1 Gene

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

Genomics for DEAF1 Gene

GeneHancer (GH) Regulatory Elements for DEAF1 Gene

Promoters and enhancers for DEAF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I000702 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.4 -368 9.5 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 ETS1 YY1 TCF12 SLC30A9 EPS8L2 DEAF1 LOC105376508 TMEM80 PGGHG HRAS GC11P000712 ENSG00000269915
GH11I000690 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.4 +11.6 11630 8.7 HDGF PKNOX1 CLOCK ARNT SIN3A DMAP1 YY1 ZNF207 ZNF143 PAF1 TMEM80 EPS8L2 DEAF1 HRAS DRD4 LOC105376508
GH11I000839 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.9 -137.1 -137066 7.6 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 SLC30A9 TSPAN4 POLR2L GC11M000841 CD151 SNORA52 RPLP2 TMEM80 PIDD1 RIC8A BET1L
GH11I000654 Enhancer 1 FANTOM5 ENCODE 12.6 +51.4 51396 0.9 FOXA2 MLX ARID4B RAD21 RARA THAP11 MIXL1 RXRA CEBPB MXD4 GC11P000654 TMEM80 CDHR5 EPS8L2 DEAF1 IRF7 TALDO1 ENSG00000255142 LOC171391 GATD1
GH11I000657 Enhancer 0.7 ENCODE 12.9 +48.8 48796 1.3 SAP130 ARID4B MAX CEBPG THRB RAD21 RARA ETS1 YY1 HNF4G TMEM80 EPS8L2 DEAF1 CDHR5 IRF7 TALDO1 CEND1 SLC25A22 PIDD1 RPLP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DEAF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DEAF1 gene promoter:

Genomic Locations for DEAF1 Gene

Genomic Locations for DEAF1 Gene
chr11:644,220-706,715
(GRCh38/hg38)
Size:
62,496 bases
Orientation:
Minus strand
chr11:644,225-706,715
(GRCh37/hg19)

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

Post-translational modifications for DEAF1 Gene

  • May be phosphorylated by DNA-PK complex in a DNA independent manner (in vitro).

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins
  • Transcription factors

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

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

No data available for UniProtKB/Swiss-Prot for DEAF1 Gene

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.

Phenotypes From GWAS Catalog for DEAF1 Gene

Gene Ontology (GO) - Molecular Function for DEAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 24726472
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 24726472
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IBA --
GO:0005515 protein binding IPI 20368287
genes like me logo Genes that share ontologies with DEAF1: view
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DEAF1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (3)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DEAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IDA,IBA --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with DEAF1: view

Pathways & Interactions for DEAF1 Gene

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

Pathways by source for DEAF1 Gene

Gene Ontology (GO) - Biological Process for DEAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 24726472
GO:0001662 behavioral fear response IEA --
GO:0001843 neural tube closure ISS,IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for DEAF1 Gene



Protein tissue co-expression partners for DEAF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DEAF1 Gene:

DEAF1

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.

Evidence on tissue expression from TISSUES for DEAF1 Gene

  • Nervous system(4.9)
  • Intestine(4.2)
  • Pancreas(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DEAF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
Pelvis:
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with DEAF1: view

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
chimpanzee
(Pan troglodytes)
Mammalia DEAF1 33 34
  • 99.71 (n)
cow
(Bos Taurus)
Mammalia DEAF1 33
  • 88.28 (n)
dog
(Canis familiaris)
Mammalia DEAF1 33 34
  • 86.84 (n)
rat
(Rattus norvegicus)
Mammalia Deaf1 33
  • 85.96 (n)
mouse
(Mus musculus)
Mammalia Deaf1 33 16 34
  • 85.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 17 (a)
ManyToMany
chicken
(Gallus gallus)
Aves DEAF1 33 34
  • 77.74 (n)
lizard
(Anolis carolinensis)
Reptilia DEAF1 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia deaf1 33
  • 68.47 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:194895 33
  • 65.7 (n)
DEAF1 34
  • 57 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Deaf1 35 34
  • 54 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10589 34
  • 26 (a)
OneToOne
Species where no ortholog for DEAF1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1057518811 likely-benign, uncertain-significance, Attention deficit hyperactivity disorder, Delayed speech and language development, Infantile muscular hypotonia, Malar flattening, Mandibular prognathia, Misalignment of teeth, Obesity, Poor fine motor coordination, Thin upper lip vermilion, not specified 686,995(-) C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1057519565 conflicting-interpretations-of-pathogenicity, pathogenic, Mental retardation, autosomal dominant 24, not provided 687,941(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057524157 likely-pathogenic, not provided, Mental retardation, autosomal dominant 24 686,962(-) A/C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1127312 A primary colorectal cancer 687,922(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs193920740 uncertain-significance, Malignant tumor of prostate 654,029(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv124e201 CNV deletion 23290073
dgv125e201 CNV deletion 23290073
dgv1522n54 CNV loss 21841781
dgv1523n54 CNV gain 21841781
dgv1525n54 CNV loss 21841781
dgv182e199 CNV deletion 23128226
dgv543e59 CNV duplication 20981092
dgv565n106 CNV deletion 24896259
esv1304503 CNV deletion 17803354
esv1332182 CNV deletion 17803354
esv2059951 CNV deletion 18987734
esv2320149 CNV deletion 18987734
esv2412904 CNV deletion 18987734
esv2544843 CNV deletion 19546169
esv2666818 CNV deletion 23128226
esv2743858 CNV deletion 23290073
esv2743859 CNV deletion 23290073
esv2743860 CNV deletion 23290073
esv2743861 CNV deletion 23290073
esv2743862 CNV deletion 23290073
esv2743865 CNV deletion 23290073
esv2743867 CNV deletion 23290073
esv2743868 CNV deletion 23290073
esv2759794 CNV loss 17122850
esv2762889 CNV loss 21179565
esv3547180 CNV deletion 23714750
esv3625073 CNV loss 21293372
esv3625074 CNV loss 21293372
esv3625075 CNV loss 21293372
esv3625076 CNV loss 21293372
esv988150 CNV deletion 20482838
nsv1039558 CNV gain 25217958
nsv1053964 CNV gain 25217958
nsv1069537 CNV deletion 25765185
nsv1069538 CNV deletion 25765185
nsv1134080 CNV deletion 24896259
nsv1159791 CNV deletion 26073780
nsv467635 CNV loss 19166990
nsv469923 CNV loss 18288195
nsv512198 CNV loss 21212237
nsv552861 CNV loss 21841781
nsv832043 CNV loss 17160897

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)

Additional Variant Information for DEAF1 Gene

Human Gene Mutation Database (HGMD)
DEAF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEAF1

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

Disorders for DEAF1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for DEAF1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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
  • Dyskinesia, seizures, and intellectual developmental disorder (DYSEIDD) [MIM:617171]: A neurodevelopmental disorder characterized by psychomotor delay, epilepsy, intellectual disability, speech impairment and dyskinesia of the limbs. Patients also manifest autistic features and other behavioral abnormalities. DYSEIDD transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:26048982}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.

Additional Disease Information for 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 JI … Mowen KA (Molecular endocrinology (Baltimore, Md.) 1998) 2 3 4 22 58
  2. 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 WE (Clinical cancer research : an official journal of the American Association for Cancer Research 2001) 3 4 22 58
  3. Nuclear DEAF-1-related (NUDR) protein contains a novel DNA binding domain and represses transcription of the heterogeneous nuclear ribonucleoprotein A2/B1 promoter. (PMID: 10521432) Michelson RJ … Huggenvik JI (The Journal of biological chemistry 1999) 3 4 22 58
  4. Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy. (PMID: 26048982) Rajab A … Knierim E (Journal of medical genetics 2015) 3 4 58
  5. Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. (PMID: 24726472) Vulto-van Silfhout AT … de Vries BB (American journal of human genetics 2014) 3 4 58

Products for DEAF1 Gene

Sources for DEAF1 Gene

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