Property Summary

NCBI Gene PubMed Count 27
Grant Count 16
R01 Count 10
Funding $1,316,704.33
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 0.000
medulloblastoma -1.600 0.000
astrocytoma -2.300 0.002
atypical teratoid / rhabdoid tumor -1.900 0.000
medulloblastoma, large-cell -1.500 0.000
adult high grade glioma -2.000 0.000
pilocytic astrocytoma -1.100 0.000
subependymal giant cell astrocytoma -1.861 0.001
inflammatory breast cancer -1.200 0.000

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.
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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.
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