DEAF1 (DEAF1 transcription factor)

2003-11-01  

Identity

HGNC
DEAF1
LOCATION
11p15.5
LOCUSID
10522
ALIAS
MRD24,NEDHELS,NUDR,SPN,VSVS,ZMYND5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10522
MIM: 602635
HGNC: 14677
Ensembl: ENSG00000177030

Variants:

dbSNP: 10522
ClinVar: 10522
TCGA: ENSG00000177030
COSMIC: DEAF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177030ENST00000382409O75398
ENSG00000177030ENST00000527170H0YCH1
ENSG00000177030ENST00000529717H0YCY2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
196682192009Deaf1 isoforms control the expression of genes encoding peripheral tissue antigens in the pancreatic lymph nodes during type 1 diabetes.63
164675352006Cell-specific repressor or enhancer activities of Deaf-1 at a serotonin 1A receptor gene polymorphism.51
185618712009Gender-specific decrease in NUDR and 5-HT1A receptor proteins in the prefrontal cortex of subjects with major depressive disorder.42
195654982009Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism.42
247264722014Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.28
203682872010Interactome 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.26
188266512008Deaf-1 regulates epithelial cell proliferation and side-branching in the mammary gland.14
151619252004Identification of a nuclear export signal and protein interaction domains in deformed epidermal autoregulatory factor-1 (DEAF-1).13
238466932013DEAF1 is a Pellino1-interacting protein required for interferon production by Sendai virus and double-stranded RNA.13
202261682010Aire regulates the expression of differentiation-associated genes and self-renewal of embryonic stem cells.11

Citation

Dessen P

DEAF1 (DEAF1 transcription factor)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/40292/deaf1