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    SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1 [ Homo sapiens ]

    Gene ID: 9197, updated on 19-May-2012
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    Summary

    Official Symbol
    SLC33A1provided by HGNC
    Official Full Name
    solute carrier family 33 (acetyl-CoA transporter), member 1provided by HGNC
    Primary source
    HGNC:95
    See related
    Ensembl:ENSG00000169359; HPRD:04734; MIM:603690; Vega:OTTHUMG00000158481
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AT1; AT-1; ACATN; SPG42; CCHLND
    Summary
    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]
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    Genomic context

    Location :
    3q25.31
    Sequence :
    Chromosome: 3; NC_000003.11 (155544300..155572248, complement)
    See SLC33A1 in Epigenomics, MapViewer

    Chromosome 3 - NC_000003.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7a pseudogene 24 Neighboring gene chromosome 3 open reading frame 33 Neighboring gene guanine monphosphate synthetase Neighboring gene SET pseudogene 14

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. Huppke P, et al. Am J Hum Genet, 2012 Jan 13. PMID 22243965.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    4. AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability. Jonas MC, et al. J Cell Sci, 2010 Oct 1. PMID 20826464.
    5. A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). Schlipf NA, et al. Eur J Hum Genet, 2010 Sep. PMID 20461110.

    See all (11) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Homozygosity mapping displayed a region of commonality among three families at chromosome 3q25. Deep sequencing and conventional sequencing disclosed homozygous or compound heterozygous mutations for all affected subjects in SLC33A1.
      Title: Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
    2. translocates acetyl-CoA into the ER lumen and is essential for cell viability
      Title: AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
    4. A missense mutation in SLC33A1 causes autosomal-dominant spastic paraplegia.
      Title: A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).
    Submit: New GeneRIF Correction
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Congenital cataracts, hearing loss, and neurodegeneration

    Spastic paraplegia 42, autosomal dominant

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:114632 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the SLC33A1 gene: The SLC33A1 gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, , S.pombe, , and N.crassa.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acetyl-CoA transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acetyl-CoA transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    cell death IEA
    Inferred from Electronic Annotation
    more info
    		  
    transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane fraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    acetyl-coenzyme A transporter 1
    Names
    acetyl-coenzyme A transporter 1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023365.1 RefSeqGene

      Range
      5001..32949
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001190992.1 → NP_001177921.1  acetyl-coenzyme A transporter 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC104472, BC014416
      Consensus CDS
      CCDS3173.1
      UniProtKB/Swiss-Prot
      O00400
      Related
      ENSP00000352456, OTTHUMP00000212981, ENST00000359479, OTTHUMT00000351129
      Conserved Domains (2) summary
      TIGR00901
      Location:86 – 458
      Blast Score: 999
      2A0125; AmpG-like permease
      pfam13000
      Location:85 – 545
      Blast Score: 734
      Acatn; Acetyl-coenzyme A transporter 1

    2. NM_004733.3 → NP_004724.1  acetyl-coenzyme A transporter 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC104472, D88152
      Consensus CDS
      CCDS3173.1
      UniProtKB/Swiss-Prot
      O00400
      Related
      ENSP00000376587, OTTHUMP00000212982, ENST00000392845, OTTHUMT00000351130
      Conserved Domains (2) summary
      TIGR00901
      Location:86 – 458
      Blast Score: 999
      2A0125; AmpG-like permease
      pfam13000
      Location:85 – 545
      Blast Score: 734
      Acatn; Acetyl-coenzyme A transporter 1

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000003.11 Reference GRCh37.p5 Primary Assembly

      Range
      155544300..155572248, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000135.1 Alternate HuRef

      Range
      152938818..152966761, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC104472.14 (35040..62988) None
    genomic CH471052.2 EAW78743.1
      EAW78744.1
    mRNA AK312268.1 BAG35199.1
    mRNA BC014416.1 AAH14416.1
    mRNA D88152.1 BAA20072.1
    other-genetic DQ891707.2 ABM82633.1
    other-genetic DQ894885.2 ABM85811.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00400.1 GenPept UniProtKB/Swiss-Prot:O00400
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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