SCLT1 (sodium channel and clathrin linker 1)

2014-11-01  

Identity

HGNC
SCLT1
LOCATION
4q28.2
LOCUSID
132320
ALIAS
CAP-1A,CAP1A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 132320
MIM: 611399
HGNC: 26406
Ensembl: ENSG00000151466

Variants:

dbSNP: 132320
ClinVar: 132320
TCGA: ENSG00000151466
COSMIC: SCLT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151466ENST00000281142Q96NL6
ENSG00000151466ENST00000439369Q96NL6
ENSG00000151466ENST00000503215D6RBP0
ENSG00000151466ENST00000503401D6RDM2
ENSG00000151466ENST00000506368D6RBA6
ENSG00000151466ENST00000511426Q96NL6
ENSG00000151466ENST00000651532A0A494C0G8

Expression (GTEx)

0
5
10
15
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
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912

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
242855662014Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.34
157977112005CAP-1A is a novel linker that binds clathrin and the voltage-gated sodium channel Na(v)1.8.12
290825822018Problematic alcohol use associates with sodium channel and clathrin linker 1 (SCLT1) in trauma-exposed populations.3

Citation

Dessen P

SCLT1 (sodium channel and clathrin linker 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73041/sclt1