InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DEAF1

Summary

InnateDB Protein

IDBP-17609.6

Last Modified

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

Gene Symbol

DEAF1

Protein Name

deformed epidermal autoregulatory factor 1 (Drosophila)

Synonyms

MRD24; NUDR; SPN; ZMYND5;

Species

Homo sapiens

Ensembl Protein

ENSP00000371846

InnateDB Gene

IDBG-17595 (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. 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. {ECO:0000269PubMed:10521432, ECO:0000269PubMed:11427895, ECO:0000269PubMed:11705868, ECO:0000269PubMed:18826651, ECO:0000269PubMed:19668219}.

Subcellular Localization

Isoform 1: Nucleus. Cytoplasm. Note=Cytoplasmic in non-mucinous colorectal carcinoma. When expressed alone, localized almost exclusively in the nucleus but, when expressed with isoform 4, nuclear expression decreases to 32% and cytoplasmic expression increases by 270%.Isoform 2: Secreted. Note=Secreted in some cell types.Isoform 3: Secreted. Note=Secreted in some cell types.Isoform 4: Cytoplasm. Nucleus. Note=When expressed alone, localizes mainly in the cytoplasm but, when expressed with isoform 1, nuclear localization is enhanced.

Disease Associations

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. {ECO:0000269PubMed:19668219}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 33 experimentally validated interaction(s) in this database.

Experimentally validated
Total	33 [view]
Protein-Protein	33 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

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:0007281	germ cell development
GO:0009653	anatomical structure morphogenesis
GO:0033599	regulation of mammary gland epithelial cell proliferation
GO:0048706	embryonic skeletal system development