Human Gene SOAT1 (ENST00000367619.8_6) from GENCODE V47lift37
  Description: sterol O-acyltransferase 1, transcript variant 1 (from RefSeq NM_003101.6)
Gencode Transcript: ENST00000367619.8_6
Gencode Gene: ENSG00000057252.13_9
Transcript (Including UTRs)
   Position: hg19 chr1:179,262,932-179,327,815 Size: 64,884 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr1:179,271,820-179,322,776 Size: 50,957 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:179,262,932-179,327,815)mRNA (may differ from genome)Protein (550 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SOAT1_HUMAN
DESCRIPTION: RecName: Full=Sterol O-acyltransferase 1; EC=2.3.1.26; AltName: Full=Acyl-coenzyme A:cholesterol acyltransferase 1; Short=ACAT-1; AltName: Full=Cholesterol acyltransferase 1;
FUNCTION: Catalyzes the formation of fatty acid-cholesterol esters. Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase.
CATALYTIC ACTIVITY: Acyl-CoA + cholesterol = CoA + cholesterol ester.
SUBUNIT: May form homo- or heterodimers.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
INDUCTION: Highly activated by the presence of cholesterol.
SIMILARITY: Belongs to the membrane-bound acyltransferase family. Sterol o-acyltransferase subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SOAT1
Diseases sorted by gene-association score: chronic leukemia (16), homozygous familial hypercholesterolemia (6), sitosterolemia (6), gallbladder disease (4), hypercholesterolemia, familial (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 63.88 RPKM in Adrenal Gland
Total median expression: 282.25 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -58.60148-0.396 Picture PostScript Text
3' UTR -1521.905039-0.302 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004299 - MBOAT_fam
IPR014371 - Oat_ACAT_DAG_ARE

Pfam Domains:
PF03062 - MBOAT, membrane-bound O-acyltransferase family

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on P35610
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000062 fatty-acyl-CoA binding
GO:0004772 sterol O-acyltransferase activity
GO:0005515 protein binding
GO:0008374 O-acyltransferase activity
GO:0015485 cholesterol binding
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0034736 cholesterol O-acyltransferase activity

Biological Process:
GO:0006629 lipid metabolic process
GO:0008202 steroid metabolic process
GO:0008203 cholesterol metabolic process
GO:0010742 macrophage derived foam cell differentiation
GO:0010878 cholesterol storage
GO:0033344 cholesterol efflux
GO:0034379 very-low-density lipoprotein particle assembly
GO:0034383 low-density lipoprotein particle clearance
GO:0034435 cholesterol esterification
GO:0042632 cholesterol homeostasis
GO:0042986 positive regulation of amyloid precursor protein biosynthetic process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK300551 - Homo sapiens cDNA FLJ50223 complete cds, highly similar to Sterol O-acyltransferase 1 (EC 2.3.1.26).
AK294047 - Homo sapiens cDNA FLJ50124 complete cds, highly similar to Sterol O-acyltransferase 1 (EC 2.3.1.26).
AK290659 - Homo sapiens cDNA FLJ75659 complete cds.
AK026611 - Homo sapiens cDNA: FLJ22958 fis, clone KAT09975, highly similar to HUMACYLCOA Homo sapiens acyl-coenzyme A: cholesterol acyltransferase mRNA.
LP895156 - Sequence 20 from Patent EP3253886.
AL833625 - Homo sapiens mRNA; cDNA DKFZp686L0273 (from clone DKFZp686L0273).
L21934 - Homo sapiens acyl-coenzyme A: cholesterol acyltransferase mRNA, complete cds.
BC028940 - Homo sapiens sterol O-acyltransferase 1, mRNA (cDNA clone MGC:29940 IMAGE:4991365), complete cds.
CU688580 - Synthetic construct Homo sapiens gateway clone IMAGE:100019840 5' read SOAT1 mRNA.
AB528437 - Synthetic construct DNA, clone: pF1KB5673, Homo sapiens SOAT1 gene for sterol O-acyltransferase 1, without stop codon, in Flexi system.
DQ894991 - Synthetic construct Homo sapiens clone IMAGE:100009451; FLH180124.01L; RZPDo839G03131D sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1 (SOAT1) gene, encodes complete protein.
KJ892182 - Synthetic construct Homo sapiens clone ccsbBroadEn_01576 SOAT1 gene, encodes complete protein.
DQ891807 - Synthetic construct clone IMAGE:100004437; FLH180128.01X; RZPDo839G03132D sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1 (SOAT1) gene, encodes complete protein.
AK316401 - Homo sapiens cDNA, FLJ79300 complete cds, highly similar to Sterol O-acyltransferase 1 (EC 2.3.1.26).
AK310920 - Homo sapiens cDNA, FLJ17962.
JD024622 - Sequence 5646 from Patent EP1572962.
JD432955 - Sequence 413979 from Patent EP1572962.
JD299021 - Sequence 280045 from Patent EP1572962.
JD560164 - Sequence 541188 from Patent EP1572962.
JD442641 - Sequence 423665 from Patent EP1572962.
JD213990 - Sequence 195014 from Patent EP1572962.
JD089856 - Sequence 70880 from Patent EP1572962.
JD048818 - Sequence 29842 from Patent EP1572962.
JD224850 - Sequence 205874 from Patent EP1572962.
JD548789 - Sequence 529813 from Patent EP1572962.
JD539305 - Sequence 520329 from Patent EP1572962.
JD231627 - Sequence 212651 from Patent EP1572962.
JD350307 - Sequence 331331 from Patent EP1572962.
JD183766 - Sequence 164790 from Patent EP1572962.
JD248195 - Sequence 229219 from Patent EP1572962.
JD235087 - Sequence 216111 from Patent EP1572962.
JD142951 - Sequence 123975 from Patent EP1572962.
JD326340 - Sequence 307364 from Patent EP1572962.
JD077913 - Sequence 58937 from Patent EP1572962.
JD318470 - Sequence 299494 from Patent EP1572962.
JD088431 - Sequence 69455 from Patent EP1572962.
JD446584 - Sequence 427608 from Patent EP1572962.
JD488122 - Sequence 469146 from Patent EP1572962.
JD488123 - Sequence 469147 from Patent EP1572962.
JD128153 - Sequence 109177 from Patent EP1572962.
JD128154 - Sequence 109178 from Patent EP1572962.
JD543375 - Sequence 524399 from Patent EP1572962.
JD478654 - Sequence 459678 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P35610 (Reactome details) participates in the following event(s):

R-HSA-8876696 SOAT1,2 transfer acyl group to CHOL forming CHEST
R-HSA-8964038 LDL clearance
R-HSA-8964043 Plasma lipoprotein clearance
R-HSA-174824 Plasma lipoprotein assembly, remodeling, and clearance
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: A6NC40, A8K3P4, A9Z1V7, ACACT, ACACT1, ACAT , ACAT1 , B4DU95, ENST00000367619.1, ENST00000367619.2, ENST00000367619.3, ENST00000367619.4, ENST00000367619.5, ENST00000367619.6, ENST00000367619.7, NM_003101, P35610, Q5T0X4, Q8N1E4, SOAT, SOAT1 , SOAT1_HUMAN, STAT, uc318gbq.1, uc318gbq.2
UCSC ID: ENST00000367619.8_6
RefSeq Accession: NM_003101.6
Protein: P35610 (aka SOAT1_HUMAN or SOA1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.