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

    Gene ID: 6646, updated on 27-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See SOAT1 in Genome Data Viewer
    Location:
    1q25.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (179293797..179358680)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (178648799..178713729)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Induction of apoptosis and necroptosis by 24(S)-hydroxycholesterol is dependent on activity of acyl-CoA:cholesterol acyltransferase 1. Yamanaka K, et al. Cell Death Dis, 2014 Jan 9. PMID 24407243, Free PMC Article
    2. Study of the insulin signaling pathways in the regulation of ACAT1 expression in cultured macrophages. Xin C, et al. Cell Biol Int, 2009 May. PMID 19269342
    3. Leptin modulates ACAT1 expression and cholesterol efflux from human macrophages. Hongo S, et al. Am J Physiol Endocrinol Metab, 2009 Aug. PMID 19625677
    4. High ACAT1 expression in estrogen receptor negative basal-like breast cancer cells is associated with LDL-induced proliferation. Antalis CJ, et al. Breast Cancer Res Treat, 2010 Aug. PMID 19851860
    5. Cholesterol loading in macrophages stimulates formation of ER-derived vesicles with elevated ACAT1 activity. Sakashita N, et al. J Lipid Res, 2010 Jun. PMID 20460577, Free PMC Article

    See all (163) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Knockdown of sterol O-acyltransferase 1 (SOAT1) suppresses SCD1-mediated lipogenesis and cancer procession in prostate cancer.
      Title: Knockdown of sterol O-acyltransferase 1 (SOAT1) suppresses SCD1-mediated lipogenesis and cancer procession in prostate cancer.
    2. SOAT1 in gallbladder cancer: Clinicopathological significance and avasimibe therapeutics.
      Title: SOAT1 in gallbladder cancer: Clinicopathological significance and avasimibe therapeutics.
    3. SOAT1 regulates cholesterol metabolism to induce EMT in hepatocellular carcinoma.
      Title: SOAT1 regulates cholesterol metabolism to induce EMT in hepatocellular carcinoma.
    4. Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.
      Title: Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.
    5. High expression of Sterol-O-Acyl transferase 1 (SOAT1), an enzyme involved in cholesterol metabolism, is associated with earlier biochemical recurrence in high risk prostate cancer.
      Title: High expression of Sterol-O-Acyl transferase 1 (SOAT1), an enzyme involved in cholesterol metabolism, is associated with earlier biochemical recurrence in high risk prostate cancer.
    6. High-affinity SOAT1 ligands remodeled cholesterol metabolism program to inhibit tumor growth.
      Title: High-affinity SOAT1 ligands remodeled cholesterol metabolism program to inhibit tumor growth.
    7. SOAT1 is a new prognostic factor of colorectal cancer.
      Title: SOAT1 is a new prognostic factor of colorectal cancer.
    8. SOAT1 enhances lung cancer invasiveness by stimulating AKT-mediated mitochondrial fragmentation.
      Title: SOAT1 enhances lung cancer invasiveness by stimulating AKT-mediated mitochondrial fragmentation.
    9. SOAT1: A Suitable Target for Therapy in High-Grade Astrocytic Glioma?
      Title: SOAT1: A Suitable Target for Therapy in High-Grade Astrocytic Glioma?
    10. piRNA-6426 increases DNMT3B-mediated SOAT1 methylation and improves heart failure.
      Title: piRNA-6426 increases DNMT3B-mediated SOAT1 methylation and improves heart failure.
    Submit: New GeneRIF Correction See all GeneRIFs (82)

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 identical protein binding IPI
    Inferred from Physical Interaction
    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 
    Process Evidence Code Pubs
    involved_in cholesterol efflux IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cholesterol efflux IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cholesterol homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cholesterol homeostasis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cholesterol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cholesterol metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cholesterol metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cholesterol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cholesterol storage IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in low-density lipoprotein particle clearance TAS
    Traceable Author Statement
    more info
    		  
    involved_in macrophage derived foam cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in macrophage derived foam cell differentiation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of amyloid precursor protein biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in very-low-density lipoprotein particle assembly 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

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    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)

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    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_001252511.2 → NP_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:113 → 462
      MBOAT; membrane-bound O-acyltransferase family

    2. NM_001252512.2 → NP_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:106 → 455
      MBOAT; membrane-bound O-acyltransferase family

    3. NM_003101.6 → NP_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:171 → 520
      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_2024_08

    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_011509911.2 → XP_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:171 → 520
      MBOAT; membrane-bound O-acyltransferase family

    2. XM_011509912.2 → XP_011508214.1  sterol O-acyltransferase 1 isoform X3

      Conserved Domains (1) summary
      cl00738
      Location:171 → 324
      MBOAT; MBOAT, membrane-bound O-acyltransferase family

    3. XM_047428828.1 → XP_047284784.1  sterol O-acyltransferase 1 isoform X2

    4. XM_047428831.1 → XP_047284787.1  sterol O-acyltransferase 1 isoform X2

    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_054338455.1 → XP_054194430.1  sterol O-acyltransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NC40, A8K3P4, A9Z1V7, B4DU95, P35610, Q5T0X4, Q8N1E4

    2. XM_054338458.1 → XP_054194433.1  sterol O-acyltransferase 1 isoform X3

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

    4. XM_054338457.1 → XP_054194432.1  sterol O-acyltransferase 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35610.3 GenPept UniProtKB/Swiss-Prot:P35610

    Gene LinkOut

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

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