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    DEAF1 DEAF1 transcription factor [ Homo sapiens (human) ]

    Gene ID: 10522, updated on 17-Jun-2024

    Summary

    Official Symbol
    DEAF1provided by HGNC
    Official Full Name
    DEAF1 transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:14677
    See related
    Ensembl:ENSG00000177030 MIM:602635; AllianceGenome:HGNC:14677
    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; VSVS; MRD24; ZMYND5; NEDHELS
    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 cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
    Expression
    Ubiquitous expression in brain (RPKM 14.6), thyroid (RPKM 8.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DEAF1 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (644220..707083, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (694847..758083, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (644220..707083, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:626715-627215 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:635551-636086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:636087-636620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:637156-637689 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:637690-638224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:638225-638758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:638759-639293 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:639294-639827 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:640193-640804 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:640805-641416 Neighboring gene Sharpr-MPRA regulatory region 3787 Neighboring gene secretin Neighboring gene dopamine receptor D4 Neighboring gene uncharacterized LOC124902603 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:673917-675116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:676679-677178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:679106-679606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:686586-687086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:687087-687587 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:688565-689488 Neighboring gene hESC enhancers GRCh37_chr11:694659-695198 and GRCh37_chr11:695199-695740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:695741-696280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:696821-697360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:704144-705071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3015 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:706927-707853 Neighboring gene transmembrane protein 80 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:707854-708781 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:709709-710636 Neighboring gene EPS8 signaling adaptor L2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3016 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3017 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3018 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3021 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:727187-728092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3022 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:734652-735152 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:735153-735653 Neighboring gene uncharacterized LOC105376509 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:742971-743670 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:743671-744369 Neighboring gene hESC enhancers GRCh37_chr11:746448-747096 and GRCh37_chr11:747097-747745 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3025 Neighboring gene transaldolase 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:762588-763787

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    deformed epidermal autoregulatory factor 1 homolog
    Names
    nuclear DEAF-1-related transcriptional regulator
    suppressin
    zinc finger MYND domain-containing protein 5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_034156.2 RefSeqGene

      Range
      16862..67851
      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_001367390.1NP_001354319.1  deformed epidermal autoregulatory factor 1 homolog isoform c

      Status: REVIEWED

      Source sequence(s)
      AC131934, AP006284, AP006621
      Consensus CDS
      CCDS91398.1
      UniProtKB/TrEMBL
      A0A804HIS1, Q59EI0
      Related
      ENSP00000507198.1, ENST00000683307.1
    3. NM_021008.4NP_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, AP006284
      Consensus CDS
      CCDS31327.1
      UniProtKB/Swiss-Prot
      A8K1F8, A8K5R8, C7T5V5, O15152, O75398, O75399, O75510, O75511, O75512, O75513, Q9UET1
      UniProtKB/TrEMBL
      A0A8I5KZ80
      Related
      ENSP00000371846.3, ENST00000382409.4
      Conserved Domains (2) summary
      pfam01342
      Location:200272
      SAND; SAND domain
      pfam01753
      Location:504540
      zf-MYND; MYND finger

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      644220..707083 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426251.1XP_047282207.1  deformed epidermal autoregulatory factor 1 homolog isoform X5

      UniProtKB/TrEMBL
      A0A804HIS1, Q59EI0
      Related
      ENST00000528864.6
    2. XM_047426249.1XP_047282205.1  deformed epidermal autoregulatory factor 1 homolog isoform X3

      UniProtKB/TrEMBL
      A0A8I5KZ80
      Related
      ENSP00000510621.1, ENST00000689835.1
    3. XM_047426248.1XP_047282204.1  deformed epidermal autoregulatory factor 1 homolog isoform X1

      UniProtKB/TrEMBL
      A0A8I5KUA2
    4. XM_011519842.4XP_011518144.1  deformed epidermal autoregulatory factor 1 homolog isoform X2

      UniProtKB/TrEMBL
      A0A8I5KZ80
      Conserved Domains (2) summary
      pfam01342
      Location:198272
      SAND; SAND domain
      pfam01753
      Location:504531
      zf-MYND; MYND finger
    5. XM_047426250.1XP_047282206.1  deformed epidermal autoregulatory factor 1 homolog isoform X4

      UniProtKB/TrEMBL
      Q59EI0

    RNA

    1. XR_007062436.1 RNA Sequence

    2. XR_007062437.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187586.1 Reference GRCh38.p14 ALT_REF_LOCI_1

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      694847..758083 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367466.1XP_054223441.1  deformed epidermal autoregulatory factor 1 homolog isoform X5

      UniProtKB/TrEMBL
      A0A804HIS1, Q59EI0
    2. XM_054367464.1XP_054223439.1  deformed epidermal autoregulatory factor 1 homolog isoform X3

      UniProtKB/TrEMBL
      A0A8I5KZ80
    3. XM_054367462.1XP_054223437.1  deformed epidermal autoregulatory factor 1 homolog isoform X1

      UniProtKB/TrEMBL
      A0A8I5KUA2
    4. XM_054367463.1XP_054223438.1  deformed epidermal autoregulatory factor 1 homolog isoform X2

      UniProtKB/TrEMBL
      A0A8I5KZ80
    5. XM_054367465.1XP_054223440.1  deformed epidermal autoregulatory factor 1 homolog isoform X4

      UniProtKB/TrEMBL
      Q59EI0

    RNA

    1. XR_008488326.1 RNA Sequence

    2. XR_008488327.1 RNA Sequence