FAAP20 (FA core complex associated protein 20)

2012-09-01  

Identity

HGNC
FAAP20
LOCATION
1p36.33
LOCUSID
199990
ALIAS
C1orf86,FP7162
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 199990
MIM: 615183
HGNC: 26428
Ensembl: ENSG00000162585

Variants:

dbSNP: 199990
ClinVar: 199990
TCGA: ENSG00000162585
COSMIC: FAAP20

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162585ENST00000378543Q6NZ36
ENSG00000162585ENST00000378546Q6NZ36
ENSG00000162585ENST00000400918Q6NZ36
ENSG00000162585ENST00000400919F6S8H2
ENSG00000162585ENST00000414253Q6NZ36
ENSG00000162585ENST00000420515H7C361
ENSG00000162585ENST00000428120H7C2E6
ENSG00000162585ENST00000440825H7C3A6

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
DNA RepairREACTOMER-HSA-73894
Fanconi Anemia PathwayREACTOMER-HSA-6783310

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 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
376203972023Fanconi anemia associated protein 20 (FAAP20) plays an essential role in homology-directed repair of DNA double-strand breaks.0
376203972023Fanconi anemia associated protein 20 (FAAP20) plays an essential role in homology-directed repair of DNA double-strand breaks.0
327639752020Acetylation modulates the Fanconi anemia pathway by protecting FAAP20 from ubiquitin-mediated proteasomal degradation.1
327639752020Acetylation modulates the Fanconi anemia pathway by protecting FAAP20 from ubiquitin-mediated proteasomal degradation.1
272327582016FBW7 regulates DNA interstrand cross-link repair by modulating FAAP20 degradation.12
272327582016FBW7 regulates DNA interstrand cross-link repair by modulating FAAP20 degradation.12
263188592015Biophysical characterization of the interaction between FAAP20-UBZ4 domain and Rev1-BRCT domain.1
263188592015Biophysical characterization of the interaction between FAAP20-UBZ4 domain and Rev1-BRCT domain.1
254143542014Ubiquitin recognition by FAAP20 expands the complex interface beyond the canonical UBZ domain.6
254143542014Ubiquitin recognition by FAAP20 expands the complex interface beyond the canonical UBZ domain.6
223439152012FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway.64
223965922012Fanconi anemia (FA) binding protein FAAP20 stabilizes FA complementation group A (FANCA) and participates in interstrand cross-link repair.57
227053712012A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to the Fanconi anemia DNA repair network.47
223439152012FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway.64
223965922012Fanconi anemia (FA) binding protein FAAP20 stabilizes FA complementation group A (FANCA) and participates in interstrand cross-link repair.57

Citation

Dessen P

FAAP20 (FA core complex associated protein 20)

Atlas Genet Cytogenet Oncol Haematol. 2012-09-01

Online version: http://atlasgeneticsoncology.org/gene/52875/css/case-report-explorer/