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    DEAF1 DEAF1, transcription factor [ Homo sapiens (human) ]

    Gene ID: 10522, updated on 20-Apr-2017
    Official Symbol
    DEAF1provided by HGNC
    Official Full Name
    DEAF1, transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:14677
    See related
    Ensembl:ENSG00000177030 MIM:602635; Vega:OTTHUMG00000165363
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPN; NUDR; MRD24; ZMYND5
    Summary
    This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
    Orthologs
    Location:
    11p15.5
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (644220..695754, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (644225..695740, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene secretin Neighboring gene dopamine receptor D4 Neighboring gene uncharacterized LOC105376508 Neighboring gene transmembrane protein 80 Neighboring gene EPS8 like 2 Neighboring gene uncharacterized LOC105376509

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic skeletal system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    germ cell development TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neural tube closure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of mammary gland epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription from RNA polymerase II promoter IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    visual learning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    deformed epidermal autoregulatory factor 1 homolog
    Names
    nuclear DEAF-1-related transcriptional regulator
    suppressin
    zinc finger MYND domain-containing protein 5

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034156.1 RefSeqGene

      Range
      5001..56535
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001293634.1NP_001280563.1  deformed epidermal autoregulatory factor 1 homolog isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as DF1-VAR) lacks two internal coding exons and contains an alternate coding exon, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AC131934, AK291383, BC053322, FJ985253, HY094363, HY324291
      UniProtKB/Swiss-Prot
      O75398
      Conserved Domains (2) summary
      pfam01753
      Location:429465
      zf-MYND; MYND finger
      cl02536
      Location:198222
      SAND; SAND domain
    2. NM_021008.3NP_066288.2  deformed epidermal autoregulatory factor 1 homolog isoform a

      See identical proteins and their annotated locations for NP_066288.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AK291383, BC053322, HY094363, HY324291
      Consensus CDS
      CCDS31327.1
      UniProtKB/Swiss-Prot
      O75398
      Related
      ENSP00000371846.3, OTTHUMP00000229456, ENST00000382409.3, OTTHUMT00000383614
      Conserved Domains (2) summary
      pfam01342
      Location:198272
      SAND; SAND domain
      pfam01753
      Location:504540
      zf-MYND; MYND finger

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      644220..695754 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519842.2XP_011518144.1  deformed epidermal autoregulatory factor 1 homolog isoform X1

      Conserved Domains (2) summary
      pfam01342
      Location:198272
      SAND; SAND domain
      pfam01753
      Location:504531
      zf-MYND; MYND finger

    RNA

    1. XR_001747725.1 RNA Sequence

    2. XR_428838.2 RNA Sequence

    3. XR_930843.2 RNA Sequence

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187586.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      176100..206711 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      643446..694676 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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