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Aliases for SLC33A1 Gene

Aliases for SLC33A1 Gene

  • Solute Carrier Family 33 (Acetyl-CoA Transporter), Member 1 2 3
  • ACATN 3 4 6
  • AT1 3 4 6
  • CCHLND 3 6
  • SPG42 3 6
  • AT-1 3 4
  • Spastic Paraplegia 42 (Autosomal Dominant) 2
  • Solute Carrier Family 33 Member 1 4
  • Acetyl-Coenzyme A Transporter 1 3
  • Acetyl-Coenzyme A Transporter 2
  • Acetyl-CoA Transporter 1 4

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 (Acetyl-CoA Transporter), 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 Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include acetyl-CoA transporter activity.

UniProtKB/Swiss-Prot for SLC33A1 Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC33A1 Gene

Genomics for SLC33A1 Gene

Regulatory Elements for SLC33A1 Gene

Genomic Location for SLC33A1 Gene

Start:
155,821,024 bp from pter
End:
155,854,459 bp from pter
Size:
33,436 bases
Orientation:
Minus strand

Genomic View for SLC33A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for SLC33A1 Gene at MOPED

Post-translational modifications for SLC33A1 Gene

Other Protein References for SLC33A1 Gene

No data available for DME Specific Peptides for SLC33A1 Gene

Domains for SLC33A1 Gene

Gene Families for SLC33A1 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

Protein Domains for SLC33A1 Gene

Suggested Antigen Peptide Sequences for SLC33A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00400

UniProtKB/Swiss-Prot:

ACATN_HUMAN :
  • O00400
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).

Gene Ontology (GO) - Molecular Function for SLC33A1 Gene

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

Phenotypes for SLC33A1 Gene

GenomeRNAi human phenotypes for SLC33A1:
genes like me logo Genes that share phenotypes with SLC33A1: view

Animal Model Products

CRISPR Products

miRNA for SLC33A1 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC33A1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for SLC33A1 Gene COMPARTMENTS Subcellular localization image for SLC33A1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 4
plasma membrane 4
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC33A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005887 integral component of plasma membrane TAS 9096318
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with SLC33A1: view

Pathways 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:0006810 transport TAS 9096318
GO:0008219 cell death --
GO:0015876 acetyl-CoA transport TAS 9096318
GO:0015992 proton transport IBA --
GO:0030509 BMP signaling pathway IDA 25402622
genes like me logo Genes that share ontologies with SLC33A1: view

Compounds for SLC33A1 Gene

(1) HMDB Compounds for SLC33A1 Gene

Compound Synonyms Cas Number PubMed IDs
Acetyl-CoA
  • S-Acetyl coenzyme A
72-89-9

(1) IUPHAR Ligand for SLC33A1 Gene

Ligand Type Action Affinity Pubmed IDs
[14C]acetylCoA None None

(1) Novoseek inferred chemical compound relationships for SLC33A1 Gene

Compound -log(P) Hits PubMed IDs
acetyl-coa 80.4 12
genes like me logo Genes that share compounds with SLC33A1: view

Transcripts for SLC33A1 Gene

Unigene Clusters for SLC33A1 Gene

Solute carrier family 33 (acetyl-CoA transporter), member 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC33A1

Primer Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
SLC33A1

Expression for SLC33A1 Gene

mRNA expression in normal human tissues for SLC33A1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC33A1 Gene

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.
genes like me logo Genes that share expressions with SLC33A1: view

In Situ Assay Products

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 35
  • 99.64 (n)
  • 99.45 (a)
SLC33A1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC33A1 35
  • 91.38 (n)
  • 92.71 (a)
SLC33A1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC33A1 35
  • 85.79 (n)
  • 90.53 (a)
SLC33A1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc33a1 35
  • 87.8 (n)
  • 93.62 (a)
Slc33a1 16
Slc33a1 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC33A1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC33A1 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc33a1 35
  • 87.92 (n)
  • 93.26 (a)
chicken
(Gallus gallus)
Aves SLC33A1 35
  • 73.88 (n)
  • 81.83 (a)
SLC33A1 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC33A1 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.30949 35
tropical clawed frog
(Silurana tropicalis)
Amphibia slc33a1 35
  • 69.49 (n)
  • 74.44 (a)
Str.8705 35
zebrafish
(Danio rerio)
Actinopterygii slc33a1 35
  • 66.67 (n)
  • 71.99 (a)
slc33a1 36
  • 70 (a)
OneToOne
zgc63693 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006943 35
  • 54.09 (n)
  • 54.49 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9706 35
  • 54.31 (n)
  • 52.71 (a)
CG9706 36
  • 50 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T26C5.3 35
  • 55.77 (n)
  • 52.94 (a)
T26C5.3 36
  • 42 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 31 (a)
OneToOne
-- 38
YBR220C 35
  • 45.05 (n)
  • 36.46 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09581g 35
  • 47.49 (n)
  • 35.84 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09101 35
  • 46.12 (n)
  • 40.13 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC21B10.09 35
  • 46.26 (n)
  • 36.77 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4830 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.771 36
  • 55 (a)
OneToOne
Species with no ortholog for SLC33A1:
  • 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)

Paralogs for SLC33A1 Gene

Pseudogenes.org Pseudogenes for SLC33A1 Gene

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

No data available for Paralogs for SLC33A1 Gene

Variants for SLC33A1 Gene

Sequence variations from dbSNP and Humsavar for SLC33A1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs15594 -- 155,853,248(-) CCTCA(A/G/T)CCCAG reference, synonymous-codon, missense
rs358703 -- 155,852,287(-) GGGGG(G/T)GCTGT intron-variant
rs382534 -- 155,829,485(+) AGAAA(C/T)GCCTT intron-variant
rs390677 -- 155,835,414(-) GGGCC(A/G)CTTTT intron-variant
rs398618 -- 155,847,680(+) GAGGC(A/G)GAAGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv877680 CNV Gain 21882294
nsv877681 CNV Loss 21882294

Relevant External Links for SLC33A1 Gene

HapMap Linkage Disequilibrium report
SLC33A1
Human Gene Mutation Database (HGMD)
SLC33A1

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

Disorders for SLC33A1 Gene

(2) OMIM Diseases for SLC33A1 Gene (603690)

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.

(1) University of Copenhagen DISEASES for SLC33A1 Gene

(1) Novoseek inferred disease relationships for SLC33A1 Gene

Disease -log(P) Hits PubMed IDs
amyotrophic lateral sclerosis 53.2 2

Relevant External Links for SLC33A1

Genetic Association Database (GAD)
SLC33A1
Human Genome Epidemiology (HuGE) Navigator
SLC33A1
genes like me logo Genes that share disorders with SLC33A1: view

Publications for SLC33A1 Gene

  1. Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated gangliosides: a putative acetyl CoA transporter. (PMID: 9096318) Kanamori A. … Hirabayashi Y. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 23
  2. A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). (PMID: 19061983) Lin P. … Gong Y. (Am. J. Hum. Genet. 2008) 2 3 4 23
  3. Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. (PMID: 22243965) Huppke P. … Gartner J. (Am. J. Hum. Genet. 2012) 3 4
  4. Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family. (PMID: 25402622) Mao F. … Gong Y. (Hum. Mutat. 2015) 3 4
  5. The acetyl-CoA transporter family SLC33. (PMID: 12739170) Hirabayashi Y. … Nomura K. (Pflugers Arch. 2004) 3 23

Products for SLC33A1 Gene

Sources for SLC33A1 Gene

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