EAF1 (ELL associated factor 1)

2014-11-01  

Identity

HGNC
EAF1
LOCATION
3p25.1
LOCUSID
85403
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 85403
MIM: 608315
HGNC: 20907
Ensembl: ENSG00000144597

Variants:

dbSNP: 85403
ClinVar: 85403
TCGA: ENSG00000144597
COSMIC: EAF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144597ENST00000396842Q96JC9
ENSG00000144597ENST00000449565F8WFA5

Expression (GTEx)

0
5
10
15
20
25
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

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Pre-transcription EventsREACTOMER-HSA-674695
RNA Polymerase II Transcription ElongationREACTOMER-HSA-75955
Formation of RNA Pol II elongation complexREACTOMER-HSA-112382

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
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 1
soft tissue 2
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
363058132022ATM-mediated ELL phosphorylation enhances its self-association through increased EAF1 interaction and inhibits global transcription during genotoxic stress.2
363058132022ATM-mediated ELL phosphorylation enhances its self-association through increased EAF1 interaction and inhibits global transcription during genotoxic stress.2
342652492021Allosteric transcription stimulation by RNA polymerase II super elongation complex.9
342652492021Allosteric transcription stimulation by RNA polymerase II super elongation complex.9
288935342017Solution Structure of the N-Terminal Domain of Mediator Subunit MED26 and Molecular Characterization of Its Interaction with EAF1 and TAF7.8
288935342017Solution Structure of the N-Terminal Domain of Mediator Subunit MED26 and Molecular Characterization of Its Interaction with EAF1 and TAF7.8
201617472010Negative feedback regulation of Wnt4 signaling by EAF1 and EAF2/U19.12
201617472010Negative feedback regulation of Wnt4 signaling by EAF1 and EAF2/U19.12
161140572006ELL binding regulates U19/Eaf2 intracellular localization, stability, and transactivation.15
161140572006ELL binding regulates U19/Eaf2 intracellular localization, stability, and transactivation.15
160065232005ELL-associated factors 1 and 2 are positive regulators of RNA polymerase II elongation factor ELL.52
160065232005ELL-associated factors 1 and 2 are positive regulators of RNA polymerase II elongation factor ELL.52

Citation

Dessen P

EAF1 (ELL associated factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62702/css/css/lib/case-report-explorer/