• Gene id: 10522

Gene Summary

• Gene Symbol: DEAF1   Gene   UCSC   Ensembl
• Aliases: MRD24, NUDR, SPN, ZMYND5
• Gene name: DEAF1 transcription factor
• Alternate names: deformed epidermal autoregulatory factor 1 homolog, nuclear DEAF-1-related transcriptional regulator, suppressin, zinc finger MYND domain-containing protein 5,
• Gene location: 11p15.5 (707082: 644219)     Exons: 18     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 602635

Protein Summary

• Protein general information: O75398  
  • Name: Deformed epidermal autoregulatory factor 1 homolog (Nuclear DEAF 1 related transcriptional regulator) (NUDR) (Suppressin) (Zinc finger MYND domain containing protein 5)
  • Length: 565  
  • Mass: 59327
  • 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. Hi
• Sequence:

  MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGH
  MDMGAEALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIV
  VHTDGSIVETTGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRG
  RCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPY
  KRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGAT
  VQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVLTSLPALAVPPPTPTKAAPPALVNGLELSEP
  RSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCS
  TFCQRKDWKDHQHICGQSAAVTVQADEVHVAESVMEKVTV

• Structural information:
  • Protein Domains: (193..27-)
    (/note="SAND-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00185"-)
  • Interpro: IPR010919  IPR000770  IPR024119  IPR002893  
  • Prosite: PS50864 PS01360 PS50865
  • PDB: 2JW6 4A24 5UWW
  • PDBsum: 2JW6 4A24 5UWW
  • STRING: ENSP00000371846
• Other Databases: GeneCards:  DEAF1  Malacards:  DEAF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007281	germ cell development	TAS	biological process
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001662	behavioral fear response	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006366	transcription by RNA polymerase II	IEA	biological process
GO:0033599	regulation of mammary gland epithelial cell proliferation	IEA	biological process
GO:0048706	embryonic skeletal system development	IEA	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0008542	visual learning	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0033599	regulation of mammary gland epithelial cell proliferation	IDA	biological process
GO:0048706	embryonic skeletal system development	ISS	biological process
GO:0001843	neural tube closure	ISS	biological process

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Autosomal dominant mental retardation	KEGG:H00773
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq