ATPAF1 (ATP synthase mitochondrial F1 complex assembly factor 1)

2014-11-01  

Identity

HGNC
ATPAF1
LOCATION
1p33
LOCUSID
64756
ALIAS
ATP11,ATP11p
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 64756
MIM: 608917
HGNC: 18803
Ensembl: ENSG00000123472

Variants:

dbSNP: 64756
ClinVar: 64756
TCGA: ENSG00000123472
COSMIC: ATPAF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123472ENST00000329231A8MRA7
ENSG00000123472ENST00000371937I3L448
ENSG00000123472ENST00000487193H0YDD6
ENSG00000123472ENST00000492233H0YCA6
ENSG00000123472ENST00000526821H0YEW4
ENSG00000123472ENST00000529214E9PPX6
ENSG00000123472ENST00000532925Q5TC12
ENSG00000123472ENST00000534216H0YD21
ENSG00000123472ENST00000542495Q5TC12
ENSG00000123472ENST00000574428Q5TC12
ENSG00000123472ENST00000576409I3L448

Expression (GTEx)

0
10
20
30
40
50
60
70
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 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
216968132011Identification of ATPAF1 as a novel candidate gene for asthma in children.11

Citation

Dessen P

ATPAF1 (ATP synthase mitochondrial F1 complex assembly factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60652/atpaf1