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 patien... See more...

Aliases for SLC33A1 Gene

Aliases for SLC33A1 Gene

  • Solute Carrier Family 33 Member 1 2 3 4 5
  • Solute Carrier Family 33 (Acetyl-CoA Transporter), Member 1 2 3
  • Acetyl-Coenzyme A Transporter 1 3 4
  • ACATN 3 4
  • AT-1 3 4
  • AT1 3 4
  • Spastic Paraplegia 42 (Autosomal Dominant) 2
  • Acetyl-Coenzyme A Transporter 2
  • Acetyl-CoA Transporter 1 4
  • CCHLND 3
  • SPG42 3

External Ids for SLC33A1 Gene

Previous HGNC Symbols for SLC33A1 Gene

  • ACATN
  • SPG42

Previous GeneCards Identifiers for SLC33A1 Gene

  • GC03M156390
  • GC03M156825
  • GC03M156865
  • GC03M156866
  • GC03M157027
  • GC03M155544
  • GC03M152938

Summaries for SLC33A1 Gene

Entrez Gene Summary for SLC33A1 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]

GeneCards Summary for SLC33A1 Gene

SLC33A1 (Solute Carrier Family 33 Member 1) is a Protein Coding gene. Diseases associated with SLC33A1 include Spastic Paraplegia 42, Autosomal Dominant and Congenital Cataracts, Hearing Loss, And Neurodegeneration. Among its related pathways are Glycosphingolipid biosynthesis - ganglio series and Transport of vitamins, nucleosides, and related molecules. Gene Ontology (GO) annotations related to this gene include solute:proton symporter activity and acetyl-CoA transmembrane transporter activity. An important paralog of this gene is ENSG00000284952.

UniProtKB/Swiss-Prot Summary for SLC33A1 Gene

  • Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides (PubMed:9096318). Negatively regulates BMP signaling (PubMed:25402622).

Additional gene information for SLC33A1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC33A1 Gene

Genomics for SLC33A1 Gene

GeneHancer (GH) Regulatory Elements for SLC33A1 Gene

Promoters and enhancers for SLC33A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J155851 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 507.5 +1.1 1058 5.2 RXRA FOXK2 ZBTB40 ZNF217 EP300 TCF12 SIN3A MYC NRF1 USF1 SLC33A1 ENSG00000284952 ENSG00000286585 LOC105374174 lnc-C3orf33-2 GMPS C3orf33 PLCH1
GH03J155824 Promoter 0.3 EPDnew 500.3 +29.9 29946 0.1 SLC33A1 GMPS PLCH1 ENSG00000214919 HSALNG0030027 piR-38580-209 ENSG00000284952
GH03J155743 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 6 +108.8 108753 5 ZNF217 EP300 TCF12 NRF1 POLR2G PHF8 TEAD4 ZBTB26 TRIM28 SAP30 ENSG00000214919 PLCH1 C3orf33 SLC33A1 lnc-C3orf33-1
GH03J155888 Enhancer 1.1 Ensembl ENCODE 12.1 -35.1 -35142 6 ZBTB11 AFF1 TARDBP MYC TAF9B RBM25 HDAC3 NCOR1 MBD2 NEUROD1 SLC33A1 ENSG00000214919 PLCH1 C3orf33 GMPS ENSG00000288032 HSALNG0030037
GH03J155804 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 5.1 +48.8 48762 2.4 ZNF217 CTCF POLR2G PHF8 ZFX ZBTB10 CLOCK ZBTB11 ZBTB26 TARDBP C3orf33 PLCH1 SLC33A1 RF00017-4149 ENSG00000284952
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC33A1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC33A1

Top Transcription factor binding sites by QIAGEN in the SLC33A1 gene promoter:
  • C/EBPalpha
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • p53

Genomic Locations for SLC33A1 Gene

Genomic Locations for SLC33A1 Gene
chr3:155,821,024-155,854,459
(GRCh38/hg38)
Size:
33,436 bases
Orientation:
Minus strand
chr3:155,538,813-155,572,248
(GRCh37/hg19)
Size:
33,436 bases
Orientation:
Minus strand

Genomic View for SLC33A1 Gene

Genes around SLC33A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC33A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC33A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC33A1 Gene

Proteins for SLC33A1 Gene

  • Protein details for SLC33A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00400-ACATN_HUMAN
    Recommended name:
    Acetyl-coenzyme A transporter 1
    Protein Accession:
    O00400
    Secondary Accessions:
    • B2R5Q2
    • D3DNK4

    Protein attributes for SLC33A1 Gene

    Size:
    549 amino acids
    Molecular mass:
    60909 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC33A1 Gene

Post-translational modifications for SLC33A1 Gene

  • Glycosylation at Asn103
  • Ubiquitination at Lys135
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC33A1 Gene

Domains & Families for SLC33A1 Gene

Gene Families for SLC33A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC33A1 Gene

Suggested Antigen Peptide Sequences for SLC33A1 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 33 member 1 (ACATN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00400

UniProtKB/Swiss-Prot:

ACATN_HUMAN :
  • Belongs to the SLC33A transporter family.
Family:
  • Belongs to the SLC33A transporter family.
genes like me logo Genes that share domains with SLC33A1: view

Function for SLC33A1 Gene

Molecular function for SLC33A1 Gene

UniProtKB/Swiss-Prot Function:
Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides (PubMed:9096318). Negatively regulates BMP signaling (PubMed:25402622).

Phenotypes From GWAS Catalog for SLC33A1 Gene

Gene Ontology (GO) - Molecular Function for SLC33A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008521 acetyl-CoA transmembrane transporter activity TAS,IEA --
GO:0015295 solute:proton symporter activity IBA 21873635
genes like me logo Genes that share ontologies with SLC33A1: view
genes like me logo Genes that share phenotypes with SLC33A1: view

Human Phenotype Ontology for SLC33A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC33A1 Gene

MGI Knock Outs for SLC33A1:

Animal Model Products

CRISPR Products

miRNA for SLC33A1 Gene

miRTarBase miRNAs that target SLC33A1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC33A1 Gene

Localization for SLC33A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC33A1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC33A1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
golgi apparatus 4
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
cytosol 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC33A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS,IEA --
GO:0005887 integral component of plasma membrane TAS 9096318
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with SLC33A1: view

Pathways & Interactions for SLC33A1 Gene

genes like me logo Genes that share pathways with SLC33A1: view

Interacting Proteins for SLC33A1 Gene

;

Gene Ontology (GO) - Biological Process for SLC33A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015876 acetyl-CoA transport IEA --
GO:0030509 BMP signaling pathway IDA 25402622
GO:0055085 transmembrane transport TAS --
GO:0060395 SMAD protein signal transduction IDA 25402622
GO:1902600 proton transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC33A1: view

No data available for SIGNOR curated interactions for SLC33A1 Gene

Drugs & Compounds for SLC33A1 Gene

(1) Drugs for SLC33A1 Gene - From: DGIdb and IUPHAR

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
[<sup>14</sup>C]acetylCoA Pharma 0

(1) Additional Compounds for SLC33A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
72-89-9
genes like me logo Genes that share compounds with SLC33A1: view

Transcripts for SLC33A1 Gene

mRNA/cDNA for SLC33A1 Gene

3 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC33A1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8
SP1: -
SP2:
SP3: -
SP4: - -
SP5: - -

Relevant External Links for SLC33A1 Gene

GeneLoc Exon Structure for
SLC33A1

Expression for SLC33A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC33A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC33A1 Gene

This gene is overexpressed in Nasal epithelium (45.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC33A1 Gene



Protein tissue co-expression partners for SLC33A1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC33A1

SOURCE GeneReport for Unigene cluster for SLC33A1 Gene:

Hs.478031

mRNA Expression by UniProt/SwissProt for SLC33A1 Gene:

O00400-ACATN_HUMAN
Tissue specificity: Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pancreas.

Evidence on tissue expression from TISSUES for SLC33A1 Gene

  • Kidney(4.2)
  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC33A1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • head
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with SLC33A1: view

No data available for mRNA differential expression in normal tissues for SLC33A1 Gene

Orthologs for SLC33A1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC33A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC33A1 31 30
  • 99.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC33A1 31 30
  • 91.38 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC33A1 31
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc33a1 30
  • 87.92 (n)
mouse
(Mus musculus)
Mammalia Slc33a1 17 31 30
  • 87.8 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC33A1 31
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC33A1 31 30
  • 85.79 (n)
OneToOne
chicken
(Gallus gallus)
Aves SLC33A1 31 30
  • 73.88 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC33A1 31
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc33a1 30
  • 69.49 (n)
Str.8705 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.30949 30
zebrafish
(Danio rerio)
Actinopterygii slc33a1 31 30
  • 66.67 (n)
OneToOne
zgc63693 30
fruit fly
(Drosophila melanogaster)
Insecta CG9706 31 30
  • 54.31 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006943 30
  • 54.09 (n)
worm
(Caenorhabditis elegans)
Secernentea T26C5.3 31 30
  • 55.77 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09581g 30
  • 47.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YBR220C 30
  • 45.05 (n)
-- 31
  • 31 (a)
OneToOne
-- 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.771 31
  • 55 (a)
OneToOne
Cin.4830 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC21B10.09 30
  • 46.26 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09101 30
  • 46.12 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4830 30
Species where no ortholog for SLC33A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC33A1 Gene

ENSEMBL:
Gene Tree for SLC33A1 (if available)
TreeFam:
Gene Tree for SLC33A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC33A1: view image

Paralogs for SLC33A1 Gene

Paralogs for SLC33A1 Gene

Pseudogenes.org Pseudogenes for SLC33A1 Gene

genes like me logo Genes that share paralogs with SLC33A1: view

Variants for SLC33A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC33A1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
580211 Uncertain Significance: Spastic paraplegia 155,833,968(-) G/A MISSENSE_VARIANT,SYNONYMOUS_VARIANT
586608 Benign: not provided 155,853,710(-) T/G SYNONYMOUS_VARIANT
648313 Uncertain Significance: Spastic paraplegia 155,828,362(-) C/A MISSENSE_VARIANT
rs1020651893 Uncertain Significance: Spastic paraplegia 155,853,458(-) A/T SYNONYMOUS_VARIANT
rs10513483 Benign: Spastic paraplegia, autosomal dominant 155,826,591(-) T/C THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for SLC33A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC33A1 Gene

Variant ID Type Subtype PubMed ID
esv3598283 CNV loss 21293372
nsv979891 CNV duplication 23825009

Variation tolerance for SLC33A1 Gene

Residual Variation Intolerance Score: 28.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.52; 77.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC33A1 Gene

Human Gene Mutation Database (HGMD)
SLC33A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC33A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC33A1 Gene

Disorders for SLC33A1 Gene

MalaCards: The human disease database

(29) MalaCards diseases for SLC33A1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ACATN_HUMAN
  • Spastic paraplegia 42, autosomal dominant (SPG42) [MIM:612539]: A form of spastic paraplegia, 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. {ECO:0000269 PubMed:19061983, ECO:0000269 PubMed:25402622}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) [MIM:614482]: 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. {ECO:0000269 PubMed:22243965}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC33A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC33A1: view

No data available for Genatlas for SLC33A1 Gene

Publications for SLC33A1 Gene

  1. A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). (PMID: 19061983) Lin P … Gong Y (American journal of human genetics 2008) 2 3 4 23 54
  2. Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated ganglioside: a putative acetyl-CoA transporter. (PMID: 9096318) Kanamori A … Hirabayashi Y (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 23 54
  3. Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family. (PMID: 25402622) Mao F … Gong Y (Human mutation 2015) 3 4 54
  4. Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. (PMID: 22243965) Huppke P … Gärtner J (American journal of human genetics 2012) 3 4 54
  5. A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). (PMID: 20461110) Schlipf NA … Schöls L (European journal of human genetics : EJHG 2010) 3 41 54

Products for SLC33A1 Gene

  • Biorbyt antibodies for SLC33A1

Sources for SLC33A1 Gene