CLINT1 (clathrin interactor 1)

2014-11-01  

Identity

HGNC
CLINT1
LOCATION
5q33.3
LOCUSID
9685
ALIAS
CLINT,ENTH,EPN4,EPNR
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9685
MIM: 607265
HGNC: 23186
Ensembl: ENSG00000113282

Variants:

dbSNP: 9685
ClinVar: 9685
TCGA: ENSG00000113282
COSMIC: CLINT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113282ENST00000411809Q14677
ENSG00000113282ENST00000411809A0A0S2Z4Y4
ENSG00000113282ENST00000521047H0YCL3
ENSG00000113282ENST00000521615H0YD52
ENSG00000113282ENST00000522381H0YDU9
ENSG00000113282ENST00000523094Q14677
ENSG00000113282ENST00000523908Q14677
ENSG00000113282ENST00000523908A0A0S2Z5H3
ENSG00000113282ENST00000530742Q14677

Expression (GTEx)

0
50
100
150
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
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Golgi Associated Vesicle BiogenesisREACTOMER-HSA-432722

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
125890592003EpsinR: an ENTH domain-containing protein that interacts with AP-1.73
150687922004Clathrin adaptor epsinR is required for retrograde sorting on early endosomal membranes.72
122138332002Enthoprotin: a novel clathrin-associated protein identified through subcellular proteomics.63
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
180333012007A SNARE-adaptor interaction is a new mode of cargo recognition in clathrin-coated vesicles.49
124298462002Clint: a novel clathrin-binding ENTH-domain protein at the Golgi.41
153715412004EpsinR is an adaptor for the SNARE protein Vti1b.39
203989082010Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.32
157937012005The Epsin 4 gene on chromosome 5q, which encodes the clathrin-associated protein enthoprotin, is involved in the genetic susceptibility to schizophrenia.20
261799142015Contributions of epsinR and gadkin to clathrin-mediated intracellular trafficking.13

Citation

Dessen P

CLINT1 (clathrin interactor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61888/clint1-(clathrin-interactor-1)