ANKFY1 (ankyrin repeat and FYVE domain containing 1)

2014-08-01  

Identity

HGNC
ANKFY1
LOCATION
17p13.2
LOCUSID
51479
ALIAS
ANKHZN,BTBD23,ZFYVE14
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51479
MIM: 607927
HGNC: 20763
Ensembl: ENSG00000185722

Variants:

dbSNP: 51479
ClinVar: 51479
TCGA: ENSG00000185722
COSMIC: ANKFY1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185722ENST00000341657Q9P2R3
ENSG00000185722ENST00000570535Q9P2R3
ENSG00000185722ENST00000572412I3L3P8
ENSG00000185722ENST00000574367Q9P2R3
ENSG00000185722ENST00000574736I3L1Z9
ENSG00000185722ENST00000575298K7EPT2
ENSG00000185722ENST00000648043Q9P2R3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
153285302004The Rab5 effector Rabankyrin-5 regulates and coordinates different endocytic mechanisms.90
222840512012Rabankyrin-5 interacts with EHD1 and Vps26 to regulate endocytic trafficking and retromer function.22
241027212013RhoD binds the Rab5 effector Rabankyrin-5 and has a role in trafficking of the platelet-derived growth factor receptor.8
100925341999Molecular cloning of a novel 130-kDa cytoplasmic protein, Ankhzn, containing Ankyrin repeats hooked to a zinc finger motif.5

Citation

Dessen P

ANKFY1 (ankyrin repeat and FYVE domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54121/ankfy1-(ankyrin-repeat-and-fyve-domain-containing-1)