Tbio DEAF1 Deformed epidermal autoregulatory factor 1 homolog

Protein Summary

Description

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. Transcriptional activator of EIF4G3. 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]

Uniprot Accession IDs

• O75398
• A8K1F8
• A8K5R8
• C7T5V5
• O15152
• O75399
• O75510
• O75511
• O75512
• O75513
• Q9UET1

Gene Name

• DEAF1

Ensembl ID

• ENST00000382409
• ENSP00000371846
• ENSG00000177030

Symbol

• SPN
• ZMYND5
• SPN
• NUDR
• MRD24
• ZMYND5

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	0.85
virus perturbation	0.79
gene perturbation	0.71
transcription factor binding site profile	0.71
cell type or tissue	0.63

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 60   (req: < 5)

Gene RIFs: 21   (req: <= 3)

Antibodies: 303   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 60   (req: >= 5)

Gene RIFs: 21   (req: > 3)

Antibodies: 303   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 17

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Data Bank (3)

1 – 3 of 3

PDB Structure Id	Ligand	Method	Resolution (Å)	M.W. (kDa)	Pub Year	Title

PDB Structure Id	M.W.	Resolution	Pub Year

Pathways (1)

WikiPathways (1)

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5

1 – 1 of 1

Data Source	Name	Explore in Pharos	Explore in Source
WikiPathways	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways	279 targets	WP706_r105829

Name	Explore in Pharos	Explore in Source
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways	279 targets	WP706_r105829

Gene Ontology Terms (22)

Functions (5)

Components (5)

Processes (12)

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10

1 – 5 of 5

GO Term	Evidence	Assigned by
DNA-binding transcription repressor activity, RNA polymerase II-specific	Inferred from Direct Assay (IDA)	NTNU_SB
RNA polymerase II regulatory region sequence-specific DNA binding	Inferred from Direct Assay (IDA)	NTNU_SB
DNA-binding transcription factor activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
DNA-binding transcription factor activity, RNA polymerase II-specific	Inferred from Sequence Alignment (ISA)	NTNU_SB
metal ion binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

Protein-Protein Interactions (50)

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1 – 10 of 50

• See Interactions on String-DB

BSPRY

Tdark

Novelty: 0.40597143

p_int: 0.999997368

p_wrong: 0.000002632

Score: 0.282

Data Source: BioPlex,STRINGDB

ZMYND19

Tdark

Novelty: 0.42857143

Score: 0.819

Data Source: STRINGDB

ZMYND11

Tbio

Family: Epigenetic

Novelty: 0.0286523

Score: 0.8

Data Source: STRINGDB

HTR1A

Tclin

Family: GPCR

Novelty: 0.00019966

Score: 0.778

Data Source: STRINGDB

GATD1

Tdark

Family: Enzyme

Novelty: 1

Score: 0.741

Data Source: STRINGDB

RAN

Tbio

Family: Enzyme

Novelty: 0.00230621

Score: 0.74

Data Source: STRINGDB

EIF4G3

Tbio

Novelty: 0.04202311

Score: 0.715

Data Source: STRINGDB

AIRE

Tbio

Family: TF; Epigenetic

Novelty: 0.00109835

Score: 0.682

Data Source: STRINGDB

AGBL5

Tbio

Family: Enzyme

Novelty: 0.09110629

Score: 0.682

Data Source: STRINGDB

CC2D1A

Tbio

Novelty: 0.01893881

Score: 0.674

Data Source: STRINGDB

Publication Statistics

PubMed Score  60.00

PubMed score by year

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PubTator Score  278.3

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

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UniProt Keyword Find Similar Targets

3D-structure
Alternative splicing
Complete proteome
Cytoplasm
Developmental protein
Disease mutation
DNA-binding
Epilepsy
Mental retardation
Metal-binding

MGI Phenotype Find Similar Targets

behavior/neurological phenotype
embryo phenotype
mortality/aging
nervous system phenotype
skeleton phenotype