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    SOAT1 sterol O-acyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 6646, updated on 11-May-2017
    Official Symbol
    SOAT1provided by HGNC
    Official Full Name
    sterol O-acyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:11177
    See related
    Ensembl:ENSG00000057252 MIM:102642; Vega:OTTHUMG00000035253
    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
    ACAT; SOAT; STAT; ACACT; ACAT1; ACAT-1
    Summary
    The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]
    Annotation information
    Note: ACAT1 (GeneID 38) and SOAT1 (GeneID 6646) loci share the ACAT1 symbol/alias in common. ACAT1 is widely used alternative name for acyl-Coenzyme A: cholesterol acyltransferase 1 (SOAT1) conflicting with the official symbol for acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase) (ACAT1). [13 Feb 2013]
    Orthologs
    Location:
    1q25.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (179293714..179358680)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (179262849..179327815)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit 5B pseudogene 8 Neighboring gene ribosomal protein L39 pseudogene 11 Neighboring gene mitochondrial fission factor pseudogene Neighboring gene axonemal dynein light chain domain containing 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 54 Neighboring gene myocyte enhancer factor 2A pseudogene 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • LDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
      LDL-mediated lipid transport, organism-specific biosystemLDL (low density lipoproteins) are complexes of a single molecule of apoprotein B-100 (apoB-100) non-covalently associated with triacylglycerol, free cholesterol, cholesterol esters, and phospholipid...
    • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
      Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
    • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
      Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Statin Pathway, organism-specific biosystem (from WikiPathways)
      Statin Pathway, organism-specific biosystemStatins inhibit endogenous cholesterol production by competitive inhibition of HMG-CoA reductase (HMGCR), the enzyme that catalyzes conversion of HMG-CoA to mevalonate, an early rate-limiting step in...
    • Steroid biosynthesis, organism-specific biosystem (from KEGG)
      Steroid biosynthesis, organism-specific biosystem
      Steroid biosynthesis
    • Steroid biosynthesis, conserved biosystem (from KEGG)
      Steroid biosynthesis, conserved biosystem
      Steroid biosynthesis
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cholesterol O-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cholesterol O-acyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol O-acyltransferase activity TAS
    Traceable Author Statement
    more info
     
    cholesterol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fatty-acyl-CoA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sterol O-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sterol O-acyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    sterol O-acyltransferase 1
    Names
    acyl-coenzyme A:cholesterol acyltransferase 1
    sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1
    NP_001239440.1
    NP_001239441.1
    NP_003092.4
    XP_011508213.1
    XP_011508214.1

    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_030638.1 RefSeqGene

      Range
      5001..69967
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001252511.1NP_001239440.1  sterol O-acyltransferase 1 isoform 2

      See identical proteins and their annotated locations for NP_001239440.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal exon in the 5' region compared to variant 1. This results in translation initiation from an alternative, downstream start codon, and an isoform (2) with a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK290659, AL451075, AL833625, BC028940, BQ182606, DC344271
      Consensus CDS
      CCDS58047.1
      UniProtKB/Swiss-Prot
      P35610
      Related
      ENSP00000445315.1, ENST00000540564.5
      Conserved Domains (1) summary
      pfam03062
      Location:113462
      MBOAT; MBOAT, membrane-bound O-acyltransferase family
    2. NM_001252512.1NP_001239441.1  sterol O-acyltransferase 1 isoform 3

      See identical proteins and their annotated locations for NP_001239441.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon in the 5' region compared to variant 1. This results in translation initiation from an in-frame, downstream start codon, and an isoform (3) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK300551, AL451075, AL833625, BC028940, BQ182606, DC344271
      Consensus CDS
      CCDS58048.1
      UniProtKB/Swiss-Prot
      P35610
      Related
      ENSP00000441356.1, ENST00000539888.5
      Conserved Domains (1) summary
      pfam03062
      Location:106455
      MBOAT; MBOAT, membrane-bound O-acyltransferase family
    3. NM_003101.5NP_003092.4  sterol O-acyltransferase 1 isoform 1

      See identical proteins and their annotated locations for NP_003092.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longest isoform (1).
      Source sequence(s)
      AL451075, AL833625, BC028940, BQ182606, DC344271
      Consensus CDS
      CCDS1330.1
      UniProtKB/Swiss-Prot
      P35610
      Related
      ENSP00000356591.3, OTTHUMP00000033188, ENST00000367619.7, OTTHUMT00000085286
      Conserved Domains (1) summary
      pfam03062
      Location:171520
      MBOAT; MBOAT, membrane-bound O-acyltransferase family

    RNA

    1. NR_045530.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two consecutive exons in the 5' region, and uses an alternate acceptor splice site at an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK294047, AL451075, AL833625, BC028940, BQ182606, DC344271

    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_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      179293714..179358680
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509912.1XP_011508214.1  sterol O-acyltransferase 1 isoform X2

      Conserved Domains (1) summary
      cl00738
      Location:171324
      MBOAT; MBOAT, membrane-bound O-acyltransferase family
    2. XM_011509911.1XP_011508213.1  sterol O-acyltransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_011508213.1

      UniProtKB/Swiss-Prot
      P35610
      Conserved Domains (1) summary
      pfam03062
      Location:171520
      MBOAT; MBOAT, membrane-bound O-acyltransferase family

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      180686373..180751320
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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