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    SLC33A1 solute carrier family 33 member 1 [ Homo sapiens (human) ]

    Gene ID: 9197, updated on 6-Aug-2017
    Official Symbol
    SLC33A1provided by HGNC
    Official Full Name
    solute carrier family 33 member 1provided by HGNC
    Primary source
    HGNC:HGNC:95
    See related
    Ensembl:ENSG00000169359 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]
    Orthologs
    Location:
    3q25.31
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (155826511..155854459, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (155544300..155572248, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7a pseudogene 24 Neighboring gene chromosome 3 open reading frame 33 Neighboring gene uncharacterized LOC105374174 Neighboring gene guanine monophosphate synthase Neighboring gene SET pseudogene 14

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acetyl-CoA transporter activity TAS
    Traceable Author Statement
    more info
     
    solute:proton symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acetyl-CoA transport IEA
    Inferred from Electronic Annotation
    more info
     
    proton transport 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 membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    acetyl-coenzyme A transporter 1
    Names
    solute carrier family 33 (acetyl-CoA transporter), member 1

    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_001190992.1NP_001177921.1  acetyl-coenzyme A transporter 1

      See identical proteins and their annotated locations for NP_001177921.1

      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
      ENSP00000352456.3, OTTHUMP00000212981, ENST00000359479.7, OTTHUMT00000351129
      Conserved Domains (1) summary
      TIGR00901
      Location:86458
      2A0125; AmpG-like permease
    2. NM_004733.3NP_004724.1  acetyl-coenzyme A transporter 1

      See identical proteins and their annotated locations for NP_004724.1

      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
      ENSP00000376587.2, OTTHUMP00000212982, ENST00000392845.7, OTTHUMT00000351130
      Conserved Domains (1) summary
      TIGR00901
      Location:86458
      2A0125; AmpG-like permease

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      155826511..155854459 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007462.1XP_016862951.1  acetyl-coenzyme A transporter 1 isoform X2

    2. XM_011513311.2XP_011511613.1  acetyl-coenzyme A transporter 1 isoform X1

      Conserved Domains (1) summary
      cl21472
      Location:85443
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    3. XM_017007463.1XP_016862952.1  acetyl-coenzyme A transporter 1 isoform X3

    4. XM_017007464.1XP_016862953.1  acetyl-coenzyme A transporter 1 isoform X4

    RNA

    1. XR_001740362.1 RNA Sequence

    2. XR_001740361.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      155507626..155535526 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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