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

Gene ID: 6646, updated on 9-Dec-2018

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
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

Genomic context

See SOAT1 in Genome Data Viewer
Location:
1q25.2
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol O-acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol binding IDA
Inferred from Direct Assay
more info
PubMed 
fatty-acyl-CoA binding IBA
Inferred from Biological aspect of Ancestor
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 
Process Evidence Code Pubs
cholesterol efflux IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol efflux IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol esterification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol esterification IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol esterification IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol homeostasis TAS
Traceable Author Statement
more info
PubMed 
cholesterol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol storage IMP
Inferred from Mutant Phenotype
more info
PubMed 
low-density lipoprotein particle clearance TAS
Traceable Author Statement
more info
 
macrophage derived foam cell differentiation IC
Inferred by Curator
more info
PubMed 
macrophage derived foam cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
macrophage derived foam cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of amyloid precursor protein biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
very-low-density lipoprotein particle assembly 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 IBA
Inferred from Biological aspect of Ancestor
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 

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

NCBI Reference Sequences (RefSeq)

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_003101.6NP_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
    P35610
    Related
    ENSP00000356591.3, ENST00000367619.7
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 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
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