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DEAF1 DEAF1 transcription factor [ Homo sapiens (human) ]

Gene ID: 10522, updated on 4-Jul-2021

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
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
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Genomic context

See DEAF1 in Genome Data Viewer
Location:
11p15.5
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (644220..707083, complement)
105.20201022 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 secretin Neighboring gene dopamine receptor D4 Neighboring gene transmembrane protein 80 Neighboring gene EPS8 like 2 Neighboring gene uncharacterized LOC105376509 Neighboring gene transaldolase 1

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

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in 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
PubMed 

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)

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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
    16330..67864
    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
    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
    O75398
    Related
    ENSP00000371846.3, ENST00000382409.4
    Conserved Domains (2) summary
    pfam01342
    Location:198272
    SAND; SAND domain
    pfam01753
    Location:504540
    zf-MYND; MYND finger

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024448326.1XP_024304094.1  deformed epidermal autoregulatory factor 1 homolog isoform X3

    Conserved Domains (2) summary
    pfam01342
    Location:198272
    SAND; SAND domain
    pfam01753
    Location:504532
    zf-MYND; MYND finger
  2. XM_024448325.1XP_024304093.1  deformed epidermal autoregulatory factor 1 homolog isoform X1

    Conserved Domains (2) summary
    pfam01342
    Location:198272
    SAND; SAND domain
    pfam01753
    Location:504534
    zf-MYND; MYND finger
  3. XM_024448327.1XP_024304095.1  deformed epidermal autoregulatory factor 1 homolog isoform X4

    Conserved Domains (1) summary
    pfam01342
    Location:198272
    SAND; SAND domain
  4. XM_011519842.3XP_011518144.1  deformed epidermal autoregulatory factor 1 homolog isoform X2

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

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187586.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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