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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DEAF1 Gene

protein-coding   GIFtS: 61
GCID: GC11M000634

DEAF1 transcription factor

(Previous name: deformed epidermal autoregulatory factor 1 (Drosophila)...)
 Explore 5 diseases affiliated with
DEAF1 via our new
 Human Malady Compendium 
Biological research products
for DEAF1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
DEAF1 Transcription Factor1 2     Zinc Finger MYND Domain-Containing Protein 52 3
NUDR1 2 3     Deformed Epidermal Autoregulatory Factor 1 (Drosophila)1
SPN1 2 3     Deformed Epidermal Autoregulatory Factor 1 Homolog2
ZMYND51 2 3     Suppressin3
Nuclear DEAF-1-Related Transcriptional Regulator2 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 GC11M000460


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DEAF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC11M000634:  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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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 (Probable). Isoform 1 and isoform 4 may form a heterodimer. Binds to LMO4 (via its C-terminus), LMO2
and CLIM2 (By similarity). May interact with the corepressor NCOR
Subcellular location: 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%
Subcellular location: Isoform 2: Secreted. Note=Secreted in some cell types
Subcellular location: Isoform 3: Secreted. Note=Secreted in some cell types
Subcellular location: Isoform 4: Cytoplasm. Nucleus. Note=When expressed alone, localizes mainly in the cytoplasm but,
when expressed with isoform 1, nuclear localization is enhanced
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
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75398

  • DEAF1 Protein expression data from MOPED and PaxDb:    About this image 
    DEAF1 Protein Expression
    REFSEQ proteins: NP_066288.2  
    ENSEMBL proteins: 
     ENSP00000431563   ENSP00000371846   ENSP00000432518   ENSP00000341902  

    Human Recombinant Protein Products for DEAF1: 
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    Novus Biologicals DEAF1 Proteins
    Novus Biologicals DEAF1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DEAF1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005634nucleus IDA19668219
    GO:0005667transcription factor complex IEA--
    GO:0005737cytoplasm IEA--

    DEAF1 for ontologies           About GeneDecksing



    DEAF1 Antibody Products: 
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    Uscn ELISAs and CLIAs for DEAF1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DEAF1 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry O75398

    ProtoNet protein and cluster: O75398

    3 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003690double-stranded DNA binding ----
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0016563transcription activator activity ----
         
    DEAF1 for ontologies           About GeneDecksing


    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 

    DEAF1 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Deaf1tm1Sho for DEAF1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DEAF1 

    miRNA
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    Inhib. RNA
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DEAF1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways1.00


    1 BioSystems Pathway for DEAF1 
        SIDS Susceptibility Pathways


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DEAF1

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

    5/27 Interacting proteins for DEAF1 (O753981, 2, 3 ENSP000003718464) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    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): 5/7 biological process terms (GO ID links to tree view) (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

    DEAF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DEAF1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DEAF1
    2 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about DEAF1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    Additional cDNA 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 

    24/250 AceView cDNA sequences (see all 250):

    BU784389 BU789587 CA446276 BM011151 BQ228380 T31308 BQ267882 CA454295 
    T16442 BQ053028 AI929566 T33232 BC053322 BM678787 CF454194 BQ227969 
    AW801885 AL119706 BM701201 BM806849 BU556875 BM696110 BU948066 Z42855 

    GeneLoc Exon Structure

    5/8 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DEAF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCGTCCGGT
    DEAF1 Expression
    About this image

    DEAF1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneEndochondral Facial BonesBone
    BoneStylopod Long BoneBone
    BoneZeugopod Long BoneBone
    CartilageMeckel's CartilageCartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DEAF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DEAF1

    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DEAF1 gene from 5/14 species (see all 14)    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 85.19(n)1
    93.63(a)1
      7 (86.61 cM)5
    540061  NM_016874.21  NP_058570.11 
     1412971765 
    chicken
    (Gallus gallus)
    Aves DEAF11 deformed epidermal autoregulatory factor 1 (Drosophila) 78.29(n)
    84.59(a)
      423017  NM_001137649.1  NP_001131121.1 
    lizard
    (Anolis carolinensis)
    Reptilia DEAF16
    --
    77(a)
    1 ↔ 1
    1(74134873-74168316)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1948951 zgc:194895 65(n)
    63.12(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)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1160 NCBI SNPs in DEAF1 are shown (see all 1160    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs116026961,2
    C,A,H--513105(+) GCCCAG/AGAGGT 1 -- int11Minor allele frequency- A:0.50NA 2
    rs361807971,2
    C,F--643736(+) AAACAC/TGCTGG 1 -- int18Minor allele frequency- T:0.35NA WA CSA 250
    rs1920639561,2
    --643748(+) CACGCC/GCCCTT 1 -- int10--------
    rs57892001,2
    C--643778(-) GGAGA-/GAGA  
            
    AAGGG
    1 -- int10--------
    rs2012655211,2
    --643781(+) TTTCT-/CTCC  
            
    CCTCC
    1 -- int10--------
    rs748809891,2
    C--643782(+) TTCTC-/TCTC  
            
    CTCCA
    1 -- int10--------
    rs774253561,2
    C--643783(+) TTCTCC/TTCCAC 1 -- int10--------
    rs1488974961,2
    --643857(+) CCCTGG/TACCGA 1 -- int10--------
    rs9364641,2
    C,F,A--643915(-) TGAGCA/GAGCCC 1 -- int111Minor allele frequency- G:0.48NA WA EA 374
    rs1132779561,2
    C--643954(+) GCCCCG/AAAACC 1 -- int11Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for DEAF1 (644225 - 706715 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 10 variations for DEAF1
         5 CNVs: 101102 3831 29884 4725 29883
         5 Indels: 44924 44921 44925 24784 24780
    Human Gene Mutation Database (HGMD): DEAF1

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section

    DEAF1 for disorders           About GeneDecksing

    OMIM gene information: 602635    OMIM disorders: --

    5 diseases for DEAF1:    About MalaCards
    letterer-siwe disease    major depressive disorder    osteoarthritis    adenocarcinoma
    pancreatitis

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

    2 Novoseek 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)
    About This Section

    PubMed articles for DEAF1 gene, integrated from 9 sources (see all 35):
    (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. (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. (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. (1999)
    4. 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. (2009)
    5. Deaf-1 regulates epithelial cell proliferation and side-branching in the mammary gland. (PubMed id 18826651)1, 2 Barker H.E....Visvader J.E. (2008)
    6. 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. (2004)
    7. The SAND domain structure defines a novel DNA-binding fold in transcriptional regulation. (PubMed id 11427895)1, 2 Bottomley M.J....Sattler M. (2001)
    8. 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. (2009)
    9. 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. (2004)
    10. Functional analysis of the osteoarthritis susceptibil ity-associated GDF5 regulatory polymorphism. (PubMed id 19565498)1, 9 Egli R.J....Loughlin J. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 10522 HGNC: 14677 AceView: DEAF1 Ensembl:ENSG00000177030 euGenes: HUgn10522
    ECgene: DEAF1 H-InvDB: DEAF1

    (According to HUGE)
    About This Section
      --

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



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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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