SLC24A1 (solute carrier family 24 member 1)

2014-11-01  

Identity

HGNC
SLC24A1
LOCATION
15q22.31
LOCUSID
9187
ALIAS
CSNB1D,HsT17412,NCKX,NCKX1,RODX

Other Information

Locus ID:

NCBI: 9187
MIM: 603617
HGNC: 10975
Ensembl: ENSG00000074621

Variants:

dbSNP: 9187
ClinVar: 9187
TCGA: ENSG00000074621
COSMIC: SLC24A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000074621ENST00000261892O60721
ENSG00000074621ENST00000339868O60721
ENSG00000074621ENST00000399033O60721
ENSG00000074621ENST00000505666H0YH06
ENSG00000074621ENST00000537259F5H127
ENSG00000074621ENST00000544319F5H483
ENSG00000074621ENST00000546330O60721

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
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
PhototransductionKEGGko04744
PhototransductionKEGGhsa04744
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The phototransduction cascadeREACTOMER-HSA-2514856
Activation of the phototransduction cascadeREACTOMER-HSA-2485179
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Sodium/Calcium exchangersREACTOMER-HSA-425561

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
retina
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
208501052010A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.29
276246282016Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.14
268228522016Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.5

Citation

Dessen P

SLC24A1 (solute carrier family 24 member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73328/slc24a1