SLC33A1 (solute carrier family 33 member 1)

2014-11-01  

Identity

HGNC
SLC33A1
LOCATION
3q25.31
LOCUSID
9197
ALIAS
ACATN,AT-1,AT1,CCHLND,SPG42
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9197
MIM: 603690
HGNC: 95
Ensembl: ENSG00000169359

Variants:

dbSNP: 9197
ClinVar: 9197
TCGA: ENSG00000169359
COSMIC: SLC33A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169359ENST00000359479O00400
ENSG00000169359ENST00000468581H7C532
ENSG00000169359ENST00000475842H7C562
ENSG00000169359ENST00000496772H7C577
ENSG00000169359ENST00000642438A0A2R8YEX5
ENSG00000169359ENST00000643144O00400
ENSG00000169359ENST00000644094A0A2R8Y5I5
ENSG00000169359ENST00000644855A0A2R8Y359
ENSG00000169359ENST00000646424A0A2R8YF57

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
Glycosphingolipid biosynthesis - ganglio seriesKEGGko00604
Glycosphingolipid biosynthesis - ganglio seriesKEGGhsa00604
Metabolic pathwaysKEGGhsa01100
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of vitamins, nucleosides, and related moleculesREACTOMER-HSA-425397

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
208264642010AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability.34
227871452012SLC33A1/AT-1 protein regulates the induction of autophagy downstream of IRE1/XBP1 pathway.31
190619832008A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).30
222439652012Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.19
272421672016Increased expression of AT-1/SLC33A1 causes an autistic-like phenotype in mice by affecting dendritic branching and spine formation.11
204611102010A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).6
254026222015Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family.6

Citation

Dessen P

SLC33A1 (solute carrier family 33 member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73394/slc33a1