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

    Gene ID: 6646, updated on 17-Jun-2024

    Summary

    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; AllianceGenome:HGNC:11177
    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 (Gene ID: 38) and SOAT1 (Gene ID: 6646) share the ACAT1 symbol/alias in common. ACAT1 is a widely used alternative name for sterol O-acyltransferase 1 (SOAT1), which can be confused with the official symbol for ACAT1 (acetyl-CoA acetyltransferase 1, GeneID 38). [01 Jun 2018]
    Expression
    Broad expression in adrenal (RPKM 68.9), prostate (RPKM 11.4) and 17 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SOAT1 in Genome Data Viewer
    Location:
    1q25.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (179293797..179358680)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (178648799..178713729)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (179262932..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 ATAC-STARR-seq lymphoblastoid silent region 1589 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:179263129-179263636 Neighboring gene mitochondrial fission factor pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2151 Neighboring gene axonemal dynein light chain domain containing 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:179387043-179387842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:179410389-179410889 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 54 Neighboring gene myocyte enhancer factor 2A pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cholesterol O-acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cholesterol O-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cholesterol O-acyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables cholesterol O-acyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables cholesterol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cholesterol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables fatty-acyl-CoA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables fatty-acyl-CoA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sterol O-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sterol O-acyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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
    XP_047284784.1
    XP_047284787.1
    XP_054194430.1
    XP_054194431.1
    XP_054194432.1
    XP_054194433.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5084..69967
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001252511.2NP_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
      Consensus CDS
      CCDS58047.1
      UniProtKB/TrEMBL
      B7ZAT6
      Related
      ENSP00000445315.1, ENST00000540564.5
      Conserved Domains (1) summary
      pfam03062
      Location:113462
      MBOAT; membrane-bound O-acyltransferase family
    2. NM_001252512.2NP_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
      Consensus CDS
      CCDS58048.1
      UniProtKB/TrEMBL
      B7ZAT6
      Related
      ENSP00000441356.1, ENST00000539888.5
      Conserved Domains (1) summary
      pfam03062
      Location:106455
      MBOAT; membrane-bound O-acyltransferase family
    3. NM_003101.6NP_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
      A6NC40, A8K3P4, A9Z1V7, B4DU95, P35610, Q5T0X4, Q8N1E4
      UniProtKB/TrEMBL
      B7ZAT6
      Related
      ENSP00000356591.3, ENST00000367619.8
      Conserved Domains (1) summary
      pfam03062
      Location:171520
      MBOAT; membrane-bound O-acyltransferase family

    RNA

    1. NR_045530.2 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      179293797..179358680
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509911.2XP_011508213.1  sterol O-acyltransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_011508213.1

      UniProtKB/Swiss-Prot
      A6NC40, A8K3P4, A9Z1V7, B4DU95, P35610, Q5T0X4, Q8N1E4
      UniProtKB/TrEMBL
      B7ZAT6
      Conserved Domains (1) summary
      pfam03062
      Location:171520
      MBOAT; membrane-bound O-acyltransferase family
    2. XM_011509912.2XP_011508214.1  sterol O-acyltransferase 1 isoform X3

      Conserved Domains (1) summary
      cl00738
      Location:171324
      MBOAT; MBOAT, membrane-bound O-acyltransferase family
    3. XM_047428828.1XP_047284784.1  sterol O-acyltransferase 1 isoform X2

      UniProtKB/TrEMBL
      B7ZAT6
    4. XM_047428831.1XP_047284787.1  sterol O-acyltransferase 1 isoform X2

      UniProtKB/TrEMBL
      B7ZAT6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      178648799..178713729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338455.1XP_054194430.1  sterol O-acyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NC40, A8K3P4, A9Z1V7, B4DU95, P35610, Q5T0X4, Q8N1E4
      UniProtKB/TrEMBL
      B7ZAT6
    2. XM_054338458.1XP_054194433.1  sterol O-acyltransferase 1 isoform X3

    3. XM_054338456.1XP_054194431.1  sterol O-acyltransferase 1 isoform X2

      UniProtKB/TrEMBL
      B7ZAT6
    4. XM_054338457.1XP_054194432.1  sterol O-acyltransferase 1 isoform X2

      UniProtKB/TrEMBL
      B7ZAT6