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
372467452024Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.0
372467452024Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.0
322536322020Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations.6
322536322020Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations.6
290825822018Problematic alcohol use associates with sodium channel and clathrin linker 1 (SCLT1) in trauma-exposed populations.7
290825822018Problematic alcohol use associates with sodium channel and clathrin linker 1 (SCLT1) in trauma-exposed populations.7
242855662014Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.54
242855662014Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.54
157977112005CAP-1A is a novel linker that binds clathrin and the voltage-gated sodium channel Na(v)1.8.16
157977112005CAP-1A is a novel linker that binds clathrin and the voltage-gated sodium channel Na(v)1.8.16

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