SLC33A1

Protein identityUniProt · HPA

UniProt accession

O00400

Gene

SLC33A1

Ensembl

ENSG00000169359

Chromosome

3

Canonical length

549 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters

Subcellular location

Vesicles,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]

Canonical amino-acid sequenceUniProt

549 residues, UniProt reviewed canonical sequence.

>O00400|SLC33A1
     1  MSPTISHKDS SRQRRPGNFS HSLDMKSGPL PPGGWDDSHL DSAGREGDRE ALLGDTGTGD
    61  FLKAPQSFRA ELSSILLLLF LYVLQGIPLG LAGSIPLILQ SKNVSYTDQA FFSFVFWPFS
   121  LKLLWAPLVD AVYVKNFGRR KSWLVPTQYI LGLFMIYLST QVDRLLGNTD DRTPDVIALT
   181  VAFFLFEFLA ATQDIAVDGW ALTMLSRENV GYASTCNSVG QTAGYFLGNV LFLALESADF
   241  CNKYLRFQPQ PRGIVTLSDF LFFWGTVFLI TTTLVALLKK ENEVSVVKEE TQGITDTYKL
   301  LFAIIKMPAV LTFCLLILTA KIGFSAADAV TGLKLVEEGV PKEHLALLAV PMVPLQIILP
   361  LIISKYTAGP QPLNTFYKAM PYRLLLGLEY ALLVWWTPKV EHQGGFPIYY YIVVLLSYAL
   421  HQVTVYSMYV SIMAFNAKVS DPLIGGTYMT LLNTVSNLGG NWPSTVALWL VDPLTVKECV
   481  GASNQNCRTP DAVELCKKLG GSCVTALDGY YVESIICVFI GFGWWFFLGP KFKKLQDEGS
   541  SSWKCKRNN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC33A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

11

Mean surface accessibility (rSASA)

0.3

Highest tissue expression

18 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC33A1.

Disease | AllUniProt

Conditions SLC33A1 is implicated in, by any mechanism.

• Spastic paraplegia 42, autosomal dominant (SPG42) MIM:612539
• Huppke-Brendel syndrome (HPBDS) MIM:614482

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 293 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Huppke-Brendel syndrome
• Spastic paraplegia
• Hereditary spastic paraplegia 42
• Failure to thrive
• Global developmental delay

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.81

gnomAD pLI

0

gnomAD missense Z

1.98

DepMap mean gene effect

-0.27

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• transmembrane transport
• acetyl-CoA transmembrane transport

Molecular functions

• acetyl-CoA transmembrane transporter activity
• protein homodimerization activity

Cellular components

• endoplasmic reticulum membrane
• Golgi membrane
• membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• AmpG-like permease/Acetyl-coenzyme A transporter 1
• MFS transporter superfamily
• Acetyl-coenzyme A transporter 1-like
• Acetyl-coenzyme A transporter 1

KeywordsUniProt

• Cataract
• Deafness
• Endoplasmic reticulum
• Glycoprotein
• Hereditary spastic paraplegia
• Membrane
• Neurodegeneration
• Phosphoprotein
• Transmembrane
• Transmembrane helix
• Transport