RUFY1 (RUN and FYVE domain containing 1)

2019-04-01  

Identity

HGNC
RUFY1
LOCATION
5q35.3
LOCUSID
80230
ALIAS
RABIP4,ZFYVE12
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 80230
MIM: 610327
HGNC: 19760
Ensembl: ENSG00000176783

Variants:

dbSNP: 80230
ClinVar: 80230
TCGA: ENSG00000176783
COSMIC: RUFY1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000176783ENST00000319449Q96T51
ENSG00000176783ENST00000393438Q96T51
ENSG00000176783ENST00000393448J3KPP6
ENSG00000176783ENST00000437570Q96T51
ENSG00000176783ENST00000502434H0YA47
ENSG00000176783ENST00000502984H0Y9Y8
ENSG00000176783ENST00000508609H0YAC8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Synthesis of PIPs at the plasma membraneREACTOMER-HSA-1660499

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
205348122010Functional cross-talk between Rab14 and Rab4 through a dual effector, RUFY1/Rabip4.31
118774302002Interaction between tyrosine kinase Etk and a RUN domain- and FYVE domain-containing protein RUFY1. A possible role of ETK in regulation of vesicle trafficking.24
231447382012AP-3 and Rabip4' coordinately regulate spatial distribution of lysosomes.11
287381272017Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport.8
304076952019Podocalyxin-like protein promotes gastric cancer progression through interacting with RUN and FYVE domain containing 1 protein.3

Citation

Dessen P

RUFY1 (RUN and FYVE domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57849/rufy1