FCHO1 (FCH and mu domain containing endocytic adaptor 1)

2014-08-01  

Identity

HGNC
FCHO1
LOCATION
19p13.11
LOCUSID
23149
ALIAS
IMD76
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23149
MIM: 613437
HGNC: 29002
Ensembl: ENSG00000130475

Variants:

dbSNP: 23149
ClinVar: 23149
TCGA: ENSG00000130475
COSMIC: FCHO1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130475ENST00000252771O14526
ENSG00000130475ENST00000593833M0QZE1
ENSG00000130475ENST00000593870M0QYT8
ENSG00000130475ENST00000594068M0QY09
ENSG00000130475ENST00000594202A0A0C3SFZ9
ENSG00000130475ENST00000595023M0R1K4
ENSG00000130475ENST00000595033O14526
ENSG00000130475ENST00000595549M0QZI9
ENSG00000130475ENST00000596309M0QZF0
ENSG00000130475ENST00000596462M0R0U5
ENSG00000130475ENST00000596507M0R3E5
ENSG00000130475ENST00000596536O14526
ENSG00000130475ENST00000596865M0R2J7
ENSG00000130475ENST00000596951O14526
ENSG00000130475ENST00000597474M0QZS1
ENSG00000130475ENST00000597512M0QZI3
ENSG00000130475ENST00000597718M0R3E7
ENSG00000130475ENST00000598067M0QXY1
ENSG00000130475ENST00000598086M0QXW2
ENSG00000130475ENST00000598539M0QYA9
ENSG00000130475ENST00000598932M0R107
ENSG00000130475ENST00000598960M0QYN8
ENSG00000130475ENST00000600209M0QXD1
ENSG00000130475ENST00000600676O14526

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
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

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
204481502010FCHo proteins are nucleators of clathrin-mediated endocytosis.154
224844872012Distinct and separable activities of the endocytic clathrin-coat components Fcho1/2 and AP-2 in developmental patterning.33
272377912016Transient Fcho1/2⋅Eps15/R⋅AP-2 Nanoclusters Prime the AP-2 Clathrin Adaptor for Cargo Binding.28
253033652014A clathrin coat assembly role for the muniscin protein central linker revealed by TALEN-mediated gene editing.26
176177192007Dynamic behavior of FCHO1 revealed by live-cell imaging microscopy: its possible involvement in clathrin-coated vesicle formation.5
320989692020Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells.0

Citation

Dessen P

FCHO1 (FCH and mu domain containing endocytic adaptor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54316/fcho1