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DEAF1 Gene

protein-coding   GIFtS: 61
GCID: GC11M000644

DEAF1 Transcription Factor

(Previous name: deformed epidermal autoregulatory factor 1 (Drosophila))
  See DEAF1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
DEAF1 Transcription Factor1 2     ZMYND52 3
Nuclear DEAF-1-Related Transcriptional Regulator2 3     Deformed Epidermal Autoregulatory Factor 1 (Drosophila)1
Zinc Finger MYND Domain-Containing Protein 52 3     Deformed Epidermal Autoregulatory Factor 1 Homolog2
NUDR2 3     suppressin2
SPN2 3     Suppressin3

External Ids:    HGNC: 146771   Entrez Gene: 105222   Ensembl: ENSG000001770307   OMIM: 6026355   UniProtKB: O753983   

Export aliases for DEAF1 gene to outside databases

Previous GC identifers: GC11U990192 GC11P000842 GC11P000502 GC11M000637 GC11M000638 GC11M000634 GC11M000460


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DEAF1 Gene:
DEAF1 (DEAF1 transcription factor) is a protein-coding gene. Diseases associated with DEAF1 include mental retardation, autosomal dominant 24. An important paralog of this gene is CBFA2T3.

UniProtKB/Swiss-Prot: DEAF1_HUMAN, O75398
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_009237.19  NC_018922.2  NT_187586.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the DEAF1 gene promoter:
         E2F-3a   E2F-4   E2F-5   GCNF   E2F-2   c-Ets-1   SRY   E2F-1   E2F   GCNF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDEAF1 promoter sequence
   Search Chromatin IP Primers for DEAF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DEAF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

DEAF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DEAF1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M000644:  view genomic region     (about GC identifiers)

Start:
644,225 bp from pter      End:
706,715 bp from pter
Size:
62,491 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DEAF1_HUMAN, O75398 (See protein sequence)
Recommended Name: Deformed epidermal autoregulatory factor 1 homolog  
Size: 565 amino acids; 59327 Da
Subunit: 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
Caution: This protein was first known as suppressin (characterized in bovine neuroendocrine and immune cells).
However, according to PubMed:9773984, it is uncertain whether it corresponds really to the suppressin also
described in Ref.4. DEAF1 has been described as a nuclear dimeric protein and suppressin as a secreted monomeric
protein
Sequence caution: Sequence=AAC25718.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors;
Sequence=AAC25719.1; Type=Frameshift; Positions=222, 236;
2 PDB 3D structures from and Proteopedia for DEAF1:
2JW6 (3D)        4A24 (3D)    
Secondary accessions: A8K1F8 A8K5R8 C7T5V5 O15152 O75399 O75510 O75511 O75512 O75513 Q9UET1
Alternative splicing: 4 isoforms:  O75398-1   O75398-3   O75398-4   O75398-5   (Has no predictable signal peptide. Ref.2 (AAC25718/AAC25719) sequences differ from that shown due to frameshifts in positions 222 and 236)

Explore the universe of human proteins at neXtProt for DEAF1: NX_O75398

Explore proteomics data for DEAF1 at MOPED

Post-translational modifications: 

  • May be phosphorylated by DNA-PK complex in a DNA independent manner (in vitro)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DEAF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_066288.2  
    ENSEMBL proteins: 
     ENSP00000431563   ENSP00000371846   ENSP00000432518   ENSP00000341902  

    DEAF1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for DEAF1

     
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    Cloud-Clone Corp. ELISAs for DEAF1
    Cloud-Clone Corp. CLIAs for DEAF1
    Search eBioscience for ELISAs for DEAF1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZMYND: Zinc fingers, MYND-type

    4 InterPro protein domains:
     IPR002893 Znf_MYND
     IPR024119 TF_DEAF-1
     IPR010919 SAND_dom-like
     IPR000770 SAND_dom

    Graphical View of Domain Structure for InterPro Entry O75398

    ProtoNet protein and cluster: O75398

    3 Blocks protein domains:
    IPB000770 SAND domain
    IPB002893 Zn-finger
    IPB010919 SAND-like


    UniProtKB/Swiss-Prot: DEAF1_HUMAN, O75398
    Similarity: Contains 1 MYND-type zinc finger
    Similarity: Contains 1 SAND domain


    Find genes that share domains with DEAF1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DEAF1_HUMAN, O75398
    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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with DEAF1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DEAF1:
     Increased S DNA content 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Deaf1):
     embryogenesis  mortality/aging  nervous system  skeleton 

    Find genes that share phenotypes with DEAF1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Deaf1tm1Sho for DEAF1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DEAF1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DEAF1

    miRNA
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    miRTarBase miRNAs that target DEAF1:
    hsa-mir-192-5p (MIRT026170), hsa-mir-215-5p (MIRT024571), hsa-mir-324-5p (MIRT043165), hsa-mir-25-3p (MIRT050256), hsa-mir-100-5p (MIRT048528)

    Block miRNA regulation of human, mouse, rat DEAF1 using miScript Target Protectors
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    SwitchGear 3'UTR luciferase reporter plasmidDEAF1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DEAF1

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEAF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DEAF1_HUMAN, O75398: 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%
    DEAF1_HUMAN, O75398: Isoform 2: Secreted. Note=Secreted in some cell types
    DEAF1_HUMAN, O75398: Isoform 3: Secreted. Note=Secreted in some cell types
    DEAF1_HUMAN, O75398: 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: 

    CompartmentConfidence
    extracellular5
    nucleus5
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005634nucleus IEA--
    GO:0005667transcription factor complex IEA--
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with DEAF1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DEAF1 About    
    See pathways by source

    SuperPathContained pathways About
    1SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways


    1 BioSystems Pathway for DEAF1
        SIDS Susceptibility Pathways


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DEAF1
    Interactions:

        GeneGlobe Interaction Network for DEAF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for DEAF1 (O753981, 2, 3 ENSP000003718464) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GSK3AP498401, 3, ENSP000002223304EBI-718185,EBI-1044067 I2D: score=1 STRING: ENSP00000222330
    GSK3BP498411, 3, ENSP000003248064EBI-718185,EBI-373586 I2D: score=1 STRING: ENSP00000324806
    ASCC2Q9H1I82, 3MINT-65461 I2D: score=5 
    AIMP2Q131552, 3MINT-8258854 I2D: score=2 
    CDC37Q165432, 3MINT-8250855 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001843neural tube closure ISS--
    GO:0006357regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006366transcription from RNA polymerase II promoter IEA--
    GO:0007281germ cell development TAS9773984
    GO:0009653anatomical structure morphogenesis TAS9773984

    Find genes that share ontologies with DEAF1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DEAF1

    2 Novoseek inferred chemical compound relationships for DEAF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 36.4 2 16527309 (1), 9773984 (1)
    thymidine 34.4 3 9773984 (1), 10521432 (1), 11705868 (1)



    Find genes that share compounds with DEAF1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DEAF1 gene: 
    NM_021008.2  

    Unigene Cluster for DEAF1:

    DEAF1 transcription factor
    Hs.243994  [show with all ESTs]
    Unigene Representative Sequence: NM_021008
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000527170(uc009ycf.1) ENST00000382409(uc001lqq.1 uc021qbn.1)
    ENST00000527658 ENST00000525904 ENST00000530813 ENST00000526790 ENST00000529717
    ENST00000525626 ENST00000528864 ENST00000524786 ENST00000529727 ENST00000526857
    ENST00000338675
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      QuantiFast Probe-based Assays in human, mouse, rat DEAF1

    Additional mRNA sequence: 

    AB209831.1 AF007165.1 AF049459.1 AF049460.1 AF068892.1 AF068894.1 AF068897.1 AK289873.1 
    AK291383.1 BC042135.1 BC053322.1 FJ985253.1 

    12 DOTS entries:

    DT.97855153  DT.100780172  DT.80101339  DT.91956044  DT.206301  DT.100780170  DT.120701886  DT.100780175 
    DT.101983502  DT.120701927  DT.120701935  DT.91644161 

    Selected AceView cDNA sequences (see all 250):

    AI929566 CF454217 BQ639100 AI052714 Z42855 BU859127 AF049460 AI911040 
    BQ673044 AI744037 BM045520 BQ300384 BQ574743 NM_021008 T08015 BM715740 
    BM720506 BU784389 BM696110 BU789587 BU556875 AF049459 BM720009 BF513456 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DEAF1 (see all 8)    About this scheme

    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:                                                              -                       -                                                               


    ECgene alternative splicing isoforms for DEAF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DEAF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCGTCCGGT
    DEAF1 Expression
    About this image


    DEAF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Zeugopod Long Bone
     
     Cartilage (Muscoskeletal System)
             Meckel's Cartilage
    DEAF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DEAF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.243994

    UniProtKB/Swiss-Prot: DEAF1_HUMAN, O75398
    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

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEAF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for DEAF1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Deaf11 , 5 deformed epidermal autoregulatory factor 1 (Drosophila)1, 5 85.07(n)1
    93.45(a)1
      7 (86.61 cM)5
    540061  NM_016874.31  NP_058570.11 
     1412971765 
    chicken
    (Gallus gallus)
    Aves DEAF11 deformed epidermal autoregulatory factor 1 (Drosophila) 77.74(n)
    84.04(a)
      423017  NM_001137649.1  NP_001131121.1 
    lizard
    (Anolis carolinensis)
    Reptilia DEAF16
    DEAF1 transcription factor
    77(a)
    1 ↔ 1
    1(74134873-74169182)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia deaf11 DEAF1 transcription factor 68.47(n)
    70.65(a)
      100137100  XM_004913665.1  XP_004913722.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1948951 zgc:194895 65.7(n)
    64.13(a)
      563776  NM_001130779.1  NP_001124251.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Deaf13 biological_process unknown RNA
    polymerase II transcription more
    54(a)     --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DEAF1 gene
    CBFA2T32  CBFA2T22  RUNX1T12  
    1 SIMAP similar gene for DEAF1 using alignment to 3 protein entries:     DEAF1_HUMAN (see all proteins):
    CBFA2T1

    Find genes that share paralogs with DEAF1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DEAF1 (see all 1338)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs341141471,2,,4
    C,FA primary colorectal cancer4 --644614(+) TGACAG/CCTGCT 2 /A /G mis13Minor allele frequency- C:0.01NA EU 5701
    VAR_0137434
    A primary colorectal cancer4--see VAR_0137432 T N mis40--------
    VAR_0137364
    A primary colorectal cancer4--see VAR_0137362 Y F mis40--------
    VAR_0137374
    A primary colorectal cancer4--see VAR_0137372 V A mis40--------
    VAR_0137294
    A primary colorectal cancer4--see VAR_0137292 E D mis40--------
    VAR_0137414
    A primary colorectal cancer4--see VAR_0137412 H L mis40--------
    VAR_0137304
    A primary colorectal cancer4--see VAR_0137302 R K mis40--------
    VAR_0137274
    A primary colorectal cancer4--see VAR_0137272 K N mis40--------
    VAR_0137354
    A primary colorectal cancer4--see VAR_0137352 V L mis40--------
    VAR_0137384
    A primary colorectal cancer4--see VAR_0137382 E K mis40--------

    HapMap Linkage Disequilibrium report for DEAF1 (644225 - 706715 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DEAF1 (see all 39):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2666818CNV Deletion23128226
    esv2743858CNV Deletion23290073
    esv2743861CNV Deletion23290073
    esv2320149CNV Deletion18987734
    esv1304503CNV Deletion17803354
    dgv143e201CNV Deletion23290073
    esv988150CNV Deletion20482838
    esv2743862CNV Deletion23290073
    esv2544843CNV Deletion19546169
    esv2412904CNV Deletion18987734

    Human Gene Mutation Database (HGMD): DEAF1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DEAF1
    DNA2.0 Custom Variant and Variant Library Synthesis for DEAF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602635    OMIM disorders: --

    1 disease for DEAF1:    
    About MalaCards
    mental retardation, autosomal dominant 24

    2 diseases from the University of Copenhagen DISEASES database for DEAF1:
    Letterer-Siwe disease     Panic disorder

    Find genes that share disorders with DEAF1           About GenesLikeMe

    2 Novoseek inferred disease relationships for DEAF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 2 11705868 (1)
    cancer 0 3 10521432 (1)


    Export disorders for DEAF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DEAF1 gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with DEAF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a nuclear deformed epidermal autoregulatory factor-1 (DEAF-1)-related (NUDR) transcriptional regulator protein. (PubMed id 9773984)1, 2, 3, 9 Huggenvik J.I....Mowen K.A. (Mol. Endocrinol. 1998)
    2. Altered subcellular localization of suppressin, a novel inhibitor of cell-cycle entry, is an independent prognostic factor in colorectal adenocarcinomas. (PubMed id 11705868)1, 2, 9 Manne U....Grizzle W.E. (Clin. Cancer Res. 2001)
    3. Nuclear DEAF-1-related (NUDR) protein contains a novel DNA binding domain and represses transcription of the heterogeneous nuclear ribonucleoprotein A2/B1 promoter. (PubMed id 10521432)1, 2, 9 Michelson R.J.... Huggenvik J.I. (J. Biol. Chem. 1999)
    4. Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex. (PubMed id 22442688)1, 2 Jensik P.J....Collard M.W. (PLoS ONE 2012)
    5. Deaf1 isoforms control the expression of genes encoding peripheral tissue antigens in the pancreatic lymph nodes during type 1 diabetes. (PubMed id 19668219)1, 2 Yip L.... Creusot R.J. (Nat. Immunol. 2009)
    6. Deaf-1 regulates epithelial cell proliferation and side-branching in the mammary gland. (PubMed id 18826651)1, 2 Barker H.E.... Visvader J.E. (BMC Dev. Biol. 2008)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. The SAND domain structure defines a novel DNA-binding fold in transcriptional regulation. (PubMed id 11427895)1, 2 Bottomley M.J....Sattler M. (Nat. Struct. Biol. 2001)
    9. Gender-specific decrease in NUDR and 5-HT1A receptor proteins in the prefrontal cortex of subjects with major depressive disorder. (PubMed id 18561871)1, 9 Szewczyk B....Austin M.C. (Int. J. Neuropsychopharmacol. 2009)
    10. Identification of a nuclear export signal and protein interaction domains in deformed epidermal autoregulatory factor-1 (DEAF-1). (PubMed id 15161925)1, 9 Jensik P.J....Collard M.W. (J. Biol. Chem. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 10522 HGNC: 14677 AceView: DEAF1 Ensembl:ENSG00000177030 euGenes: HUgn10522
    ECgene: DEAF1 H-InvDB: DEAF1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for DEAF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DEAF1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for DEAF1 gene:
    Search GeneIP for patents involving DEAF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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