Property Summary

NCBI Gene PubMed Count 27
PubMed Score 49.27
PubTator Score 198.38

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
glioblastoma -2.000 1.8e-04
medulloblastoma -1.600 4.3e-07
astrocytoma -2.300 1.6e-03
atypical teratoid / rhabdoid tumor -1.900 1.1e-09
medulloblastoma, large-cell -1.500 1.5e-05
adult high grade glioma -2.000 1.9e-06
pilocytic astrocytoma -1.100 4.8e-05
subependymal giant cell astrocytoma -1.861 1.2e-03
inflammatory breast cancer -1.200 7.8e-05

Gene RIF (17)

PMID Text
26271982 Data show that deformed epidermal autoregulatory factor-1 (DEAF1) was located in the nucleus under the fluorescence microscope.
26048982 an autosomal recessive splice acceptor mutation in DEAF1 (c.997+4A>C, p.G292Pfs*) in all affected individuals, which led to exon skipping, and reduced the normal full-length mRNA copy number in the patients with epilepsy and extrapyramidal symptoms
25187368 These data suggest that during the progression of type 1 diabetes, inflammation and hyperglycemia mediate the splicing of DEAF1 and loss of peripheral tissue antigen expression.
24726472 these results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1.
24668509 This study indicates, for the first time, a hereditary role of DEAF1 in white matter abnormalities, microcephaly and syndromic intellectual disability.
23846693 Pellino1 interacts with the transcription factor Deformed Epidermal Autoregulatory Factor 1 (DEAF1).
22442688 DEAF1 can interact with the DNA-PK complex through interactions of its DNA binding domain with the carboxy-terminal region of Ku70 that contains the Bax binding domain, and that DEAF1 is a potential substrate for DNA-PK.
22328058 Non-genomic downregulation of 5-HT1A receptor by 17beta-estradiol does not involve NUDR and Freud-1 proteins.
20368287 Data identify DEAF1 as an interactor and in vitro substrate of GSK3A and GSK3B that interacts with the phosphatidylinositol 3-kinase-mammalian target of rapamycin pathway.
20226168 These results suggest that transcription factors such as Aire and Deaf1, which exert global transcriptional regulatory functions, may play important roles in self-renewal of ESCs and maintaining ESC in a transcriptionally hyperactive state.
19668219 Lower peripheral tissue antigens (PTA) expression resulting from the alternative splicing of DEAF1 may contribute to the pathogenesis of type 1 diabetes.
19565498 DEAF-1 is a trans-acting factor that merits further investigation as a potential tool for modulating GDF5 expression.
18826651 Overexpression of transgenic DEAF-1 in human breast epithelial cells enhances cell proliferation.
18561871 In this study the NUDR immunoreactivity as measured by Western blot was significantly decreased in the prefrontal cortex of female depressed subjects (42%, p=0.02) and unchanged in male depressed subjects relative to gender-matched control subjects.
16467535 Cell-specific regulation by Deaf-1 could underlie region-specific alterations in 5-HT1A receptor expression in different mood disorders.
15161925 DEAF1 has nuclear export signal and protein interaction domains
11705868 The spn gene was mutated in the primary CRC, the expression of SPN was primarily cytoplasmic in nonmucinous CRCs and nuclear in mucinous CRCs.

AA Sequence

MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMA      1 - 70
AEPGHMDMGAEALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDS     71 - 140
LNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNI    141 - 210
SGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCT    211 - 280
CAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFD    281 - 350
RASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVL    351 - 420
TSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQ    421 - 490
AKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHICGQSAAVTVQADEVHVAESVM    491 - 560
EKVTV                                                                     561 - 565
//

Text Mined References (33)

PMID Year Title
26271982 2015 [Screening of deformed epidermal autoregulatory factor 1-related functional proteins].
26048982 2015 Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.
25187368 2015 Inflammation and hyperglycemia mediate Deaf1 splicing in the pancreatic lymph nodes via distinct pathways during type 1 diabetes.
24726472 2014 Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.
24668509 2014 Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
23846693 2013 DEAF1 is a Pellino1-interacting protein required for interferon production by Sendai virus and double-stranded RNA.
23372760 2013 Structural and functional analysis of the DEAF-1 and BS69 MYND domains.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22442688 2012 Deformed epidermal autoregulatory factor-1 (DEAF1) interacts with the Ku70 subunit of the DNA-dependent protein kinase complex.
22328058 2012 17?-estradiol-induced regulation of the novel 5-HT1A-related transcription factors NUDR and Freud-1 in SH SY5Y cells.
21988832 2011 Toward an understanding of the protein interaction network of the human liver.
21076407 2010 A de novo paradigm for mental retardation.
20368287 2010 Interactome mapping of the phosphatidylinositol 3-kinase-mammalian target of rapamycin pathway identifies deformed epidermal autoregulatory factor-1 as a new glycogen synthase kinase-3 interactor.
20226168 2010 Aire regulates the expression of differentiation-associated genes and self-renewal of embryonic stem cells.
19668219 2009 Deaf1 isoforms control the expression of genes encoding peripheral tissue antigens in the pancreatic lymph nodes during type 1 diabetes.
19565498 2009 Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18826651 2008 Deaf-1 regulates epithelial cell proliferation and side-branching in the mammary gland.
18561871 2009 Gender-specific decrease in NUDR and 5-HT1A receptor proteins in the prefrontal cortex of subjects with major depressive disorder.
18286714 2008 Retraction notice to "Structure and functional analysis of the MYND domain" [J. Mol. Biol. (2006) 358, 498-508].
16527309 2006 Structure and functional analysis of the MYND domain.
16467535 2006 Cell-specific repressor or enhancer activities of Deaf-1 at a serotonin 1A receptor gene polymorphism.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
15161925 2004 Identification of a nuclear export signal and protein interaction domains in deformed epidermal autoregulatory factor-1 (DEAF-1).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11705868 2001 Altered subcellular localization of suppressin, a novel inhibitor of cell-cycle entry, is an independent prognostic factor in colorectal adenocarcinomas.
11427895 2001 The SAND domain structure defines a novel DNA-binding fold in transcriptional regulation.
10521432 1999 Nuclear DEAF-1-related (NUDR) protein contains a novel DNA binding domain and represses transcription of the heterogeneous nuclear ribonucleoprotein A2/B1 promoter.
9773984 1998 Characterization of a nuclear deformed epidermal autoregulatory factor-1 (DEAF-1)-related (NUDR) transcriptional regulator protein.
9417089 1998 Molecular cloning, sequence analysis, expression, and tissue distribution of suppressin, a novel suppressor of cell cycle entry.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.