InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Deaf1

Summary

InnateDB Protein

IDBP-212130.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Deaf1

Protein Name

deformed epidermal autoregulatory factor 1 (Drosophila)

Synonyms

AU042387; C230009B13Rik; NUDR;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000079395

InnateDB Gene

IDBG-212128 (Deaf1)

Protein Structure

UniProt Annotation

Function

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 (By similarity). Regulates epithelial cell proliferation and side-branching in the mammary gland. Required for neural tube closure and skeletal patterning. Controls the expression of peripheral tissue antigens in pancreatic lymph nodes. Isoform 1 displays greater transcriptional activity than isoform 2. Isoform 2 may inhibit transcriptional activity of isoform 1 by interacting with it and retaining it in the cytoplasm. {ECO:0000250, ECO:0000269PubMed:14966286, ECO:0000269PubMed:18826651, ECO:0000269PubMed:19668219}.

Subcellular Localization

Isoform 1: Nucleus. Cytoplasm {ECO:0000250}.Isoform 2: Cytoplasm. Nucleus. Note=Displays some nuclear localization when expressed with isoform 1, suggesting that it may heterodimerize with isoform 1 and shuttle to the nucleus using the nuclear localization signal of isoform 1.

Disease Associations

Tissue Specificity

Ubiquitously expressed during embryogenesis, with higher expression in regions of the central nervous system, dorsal root ganglia, submandibular gland, epidermis and breast. In 12-week-old NOD mice, expression of isoform 2 is sevenfold higher in lymph node stromal elements than in T-cells and tenfold higher than in B-cells. {ECO:0000269PubMed:9860983}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 18 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	18 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0005515	protein binding
GO:0046872	metal ion binding

Biological Process

GO:0001843	neural tube closure
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0006366	transcription from RNA polymerase II promoter
GO:0033599	regulation of mammary gland epithelial cell proliferation
GO:0048706	embryonic skeletal system development