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

Gene ID: 6646, updated on 3-Apr-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
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Genomic context

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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

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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. High-affinity SOAT1 ligands remodeled cholesterol metabolism program to inhibit tumor growth. Wang Z, et al. BMC Med, 2022 Aug 9. PMID 35941608, Free PMC Article
  2. SOAT1: A Suitable Target for Therapy in High-Grade Astrocytic Glioma? Löhr M, et al. Int J Mol Sci, 2022 Mar 28. PMID 35409086, Free PMC Article
  3. SOAT1 enhances lung cancer invasiveness by stimulating AKT-mediated mitochondrial fragmentation. Mo Y, et al. Biochem Cell Biol, 2022 Feb. PMID 34670102
  4. SOAT1 is a new prognostic factor of colorectal cancer. Wang XC, et al. Ir J Med Sci, 2022 Aug. PMID 34460058
  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. Eckhardt C, et al. Prostate Cancer Prostatic Dis, 2022 Sep. PMID 34326474, Free PMC Article

See all (149) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. SOAT1 is a new prognostic factor of colorectal cancer.
    Title: SOAT1 is a new prognostic factor of colorectal cancer.
  4. SOAT1 enhances lung cancer invasiveness by stimulating AKT-mediated mitochondrial fragmentation.
    Title: SOAT1 enhances lung cancer invasiveness by stimulating AKT-mediated mitochondrial fragmentation.
  5. SOAT1: A Suitable Target for Therapy in High-Grade Astrocytic Glioma?
    Title: SOAT1: A Suitable Target for Therapy in High-Grade Astrocytic Glioma?
  6. piRNA-6426 increases DNMT3B-mediated SOAT1 methylation and improves heart failure.
    Title: piRNA-6426 increases DNMT3B-mediated SOAT1 methylation and improves heart failure.
  7. Relationship Between Genetic Variants of ACAT1 and APOE with the Susceptibility to Dementia (SADEM Study).
    Title: Relationship Between Genetic Variants of ACAT1 and APOE with the Susceptibility to Dementia (SADEM Study).
  8. Impacts of the SOAT1 genetic variants and protein expression on HBV-related hepatocellular carcinoma.
    Title: Impacts of the SOAT1 genetic variants and protein expression on HBV-related hepatocellular carcinoma.
  9. SOAT1 promotes mevalonate pathway dependency in pancreatic cancer.
    Title: SOAT1 promotes mevalonate pathway dependency in pancreatic cancer.
  10. A Dipeptidyl Peptidase-4 Inhibitor Inhibits Foam Cell Formation of Macrophages in Type 1 Diabetes via Suppression of CD36 and ACAT-1 Expression.
    Title: A Dipeptidyl Peptidase-4 Inhibitor Inhibits Foam Cell Formation of Macrophages in Type 1 Diabetes via Suppression of CD36 and ACAT-1 Expression.
Submit: New GeneRIF Correction See all GeneRIFs (78)

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)

Genotypes

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 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_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_011509911.2 → 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

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