SLCtables

SLC33A1

Protein name: ACATN1 Aliases: AT-1 Substrates: acetyl-CoA Transport type: Facilitated transporter Tissue and cellular expression: brain, spinal cord, prostate, placenta, uterus, testis, thymus, trachea Subcellular expression: endoplasmic reticulum Disease: autosomal dominant spastic paraplegia (SPG42) Locus: 3q25.3 Sequence ID: NP_001177921.1, NM_001190992.1 NP_004724.1, NM_004733.3 Gene ID: 9197 Splice variants: N/D

ACATN_HUMAN (UniProt)

Gene names: SLC33A1, ACATN, AT1
Protein names and data: ACATN_HUMAN, Full=Acetyl-coenzyme A transporter 1;Short=AT-1;Short=Acetyl-CoA transporter 1, Full=Solute carrier family 33 member 1; Length: 549 a.a., Mass: 60909 Da,
fasta formatted sequence
Function: Probable acetyl-CoA transporter necessary for O- acetylation of gangliosides
Disease: (OMIM: 603690 612539 614482) Defects in SLC33A1 are the cause of spastic paraplegia autosomal dominant type 42 (SPG42) [MIM:612539]. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body; Defects in SLC33A1 are the cause of congenital cataracts, hearing loss, and neurodegeneration (CCHLND) [MIM:614482]. CCHLND is an autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination
Cellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Probable)
Tissue specificity: Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pancreas

Database cross-references

UniProt: O00400
NextBio: 34479
OMIM: 603690 612539 614482
Ensembl: ENST00000392845
GeneCard: GC03M155821
TCDB: 2.A.1.25.1
PharmGenUCSF: SLC33A1
Guide to Pharmacology: SLC33A1 (1134)
SLC33 acetylCoA transporter (1134)
HGNC: HGNC:95

Genetic variants

See also Ensembl:ENST00000392845

110 - 110 A -> P (in CCHLND; the mutant protein is present at normal levels in patient fibroblasts; the mutant protein fails to localize normally to the Golgi apparatus and instead shows punctate staining in the cytoplasm). VAR_067915
113 - 113 S -> R (in SPG42). VAR_054850
171 - 171 D -> G (in dbSNP:rs3804769). VAR_050631 3804769
400 - 400 V -> A (in a colorectal cancer sample; somatic mutation). VAR_035776