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Aliases for SOAT1 Gene

Aliases for SOAT1 Gene

  • Sterol O-Acyltransferase 1 2 3 5
  • Sterol O-Acyltransferase (Acyl-Coenzyme A: Cholesterol Acyltransferase) 1 2 3
  • Acyl-Coenzyme A:Cholesterol Acyltransferase 1 3 4
  • EC 2.3.1.26 4 61
  • ACAT-1 3 4
  • ACACT 3 4
  • ACAT1 3 4
  • ACAT 3 4
  • SOAT 3 4
  • STAT 3 4
  • Acyl-Coenzyme A: Cholesterol Acyltransferase 2
  • Cholesterol Acyltransferase 1 4
  • ACACT1 4

External Ids for SOAT1 Gene

Previous HGNC Symbols for SOAT1 Gene

  • SOAT
  • STAT

Previous GeneCards Identifiers for SOAT1 Gene

  • GC01P176787
  • GC01P174691
  • GC01P175783
  • GC01P176502
  • GC01P176453
  • GC01P175994
  • GC01P177529
  • GC01P150491

Summaries for SOAT1 Gene

Entrez Gene Summary for SOAT1 Gene

  • 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]

GeneCards Summary for SOAT1 Gene

SOAT1 (Sterol O-Acyltransferase 1) is a Protein Coding gene. Diseases associated with SOAT1 include Homozygous Familial Hypercholesterolemia and Sitosterolemia. Among its related pathways are Statin Pathway and cholesterol biosynthesis I. GO annotations related to this gene include cholesterol binding and sterol O-acyltransferase activity. An important paralog of this gene is SOAT2.

UniProtKB/Swiss-Prot for SOAT1 Gene

  • Catalyzes the formation of fatty acid-cholesterol esters, which are less soluble in membranes than cholesterol. Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase.

Tocris Summary for SOAT1 Gene

Gene Wiki entry for SOAT1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOAT1 Gene

Genomics for SOAT1 Gene

Regulatory Elements for SOAT1 Gene

Enhancers for SOAT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SOAT1 on UCSC Golden Path with GeneCards custom track

Promoters for SOAT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SOAT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SOAT1 Gene

Chromosome:
1
Start:
179,293,714 bp from pter
End:
179,358,680 bp from pter
Size:
64,967 bases
Orientation:
Plus strand

Genomic View for SOAT1 Gene

Genes around SOAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SOAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SOAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOAT1 Gene

Proteins for SOAT1 Gene

  • Protein details for SOAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35610-SOAT1_HUMAN
    Recommended name:
    Sterol O-acyltransferase 1
    Protein Accession:
    P35610
    Secondary Accessions:
    • A6NC40
    • A8K3P4
    • A9Z1V7
    • B4DU95
    • Q5T0X4
    • Q8N1E4

    Protein attributes for SOAT1 Gene

    Size:
    550 amino acids
    Molecular mass:
    64735 Da
    Quaternary structure:
    • May form homo- or heterodimers. Interacts with UBIAD1.

    Alternative splice isoforms for SOAT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SOAT1 Gene

Post-translational modifications for SOAT1 Gene

  • Ubiquitination at Lys 45, Lys 62, Lys 120, and Lys 531
  • Modification sites at PhosphoSitePlus

Other Protein References for SOAT1 Gene

Domains & Families for SOAT1 Gene

Protein Domains for SOAT1 Gene

Graphical View of Domain Structure for InterPro Entry

P35610

UniProtKB/Swiss-Prot:

SOAT1_HUMAN :
  • Belongs to the membrane-bound acyltransferase family. Sterol o-acyltransferase subfamily.
Family:
  • Belongs to the membrane-bound acyltransferase family. Sterol o-acyltransferase subfamily.
genes like me logo Genes that share domains with SOAT1: view

No data available for Gene Families for SOAT1 Gene

Function for SOAT1 Gene

Molecular function for SOAT1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-CoA + cholesterol = CoA + cholesterol ester.
UniProtKB/Swiss-Prot Function:
Catalyzes the formation of fatty acid-cholesterol esters, which are less soluble in membranes than cholesterol. Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase.
UniProtKB/Swiss-Prot Induction:
Highly activated by the presence of cholesterol.

Enzyme Numbers (IUBMB) for SOAT1 Gene

Gene Ontology (GO) - Molecular Function for SOAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IDA 16647063
GO:0004772 sterol O-acyltransferase activity IMP 8407899
GO:0005515 protein binding IPI 21044950
GO:0015485 cholesterol binding IDA 16647063
GO:0034736 cholesterol O-acyltransferase activity IMP 8407899
genes like me logo Genes that share ontologies with SOAT1: view
genes like me logo Genes that share phenotypes with SOAT1: view

Animal Models for SOAT1 Gene

MGI Knock Outs for SOAT1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SOAT1 Gene

Localization for SOAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOAT1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SOAT1 Gene COMPARTMENTS Subcellular localization image for SOAT1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
extracellular 2
peroxisome 2
cytosol 1
endosome 1
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SOAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 10623671
GO:0005789 endoplasmic reticulum membrane IDA 17412327
GO:0016020 membrane IDA 9756919
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SOAT1: view

Pathways & Interactions for SOAT1 Gene

genes like me logo Genes that share pathways with SOAT1: view

Pathways by source for SOAT1 Gene

1 BioSystems pathway for SOAT1 Gene
1 PharmGKB pathway for SOAT1 Gene
1 KEGG pathway for SOAT1 Gene

Gene Ontology (GO) - Biological Process for SOAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008203 cholesterol metabolic process IMP 8407899
GO:0010742 macrophage derived foam cell differentiation NAS 18971559
GO:0010878 cholesterol storage IMP 8407899
GO:0033344 cholesterol efflux IMP 15308631
GO:0034379 very-low-density lipoprotein particle assembly IMP 15308631
genes like me logo Genes that share ontologies with SOAT1: view

No data available for SIGNOR curated interactions for SOAT1 Gene

Drugs & Compounds for SOAT1 Gene

(41) Drugs for SOAT1 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ezetimibe Approved Pharma Target, inhibitor Cholesterol transport inhibitor 268
Hesperetin Approved Pharma Target, inhibitor 0
cholesterol Experimental Pharma Agonist 0
Propionyl-CoA Experimental Pharma 0
CI 976 Pharma Selective ACAT inhibitor 0

(100) Additional Compounds for SOAT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
38795-33-4

(3) Tocris Compounds for SOAT1 Gene

Compound Action Cas Number
CI 976 Selective ACAT inhibitor 114289-47-3
VULM 1457 ACAT inhibitor 228544-65-8
YM 750 ACAT inhibitor 138046-43-2

(4) ApexBio Compounds for SOAT1 Gene

Compound Action Cas Number
Avasimibe ACAT inhibitor,orally bioavailable 166518-60-1
CI 976 114289-47-3
VULM 1457 228544-65-8
YM 750 138046-43-2
genes like me logo Genes that share compounds with SOAT1: view

Transcripts for SOAT1 Gene

Unigene Clusters for SOAT1 Gene

Sterol O-acyltransferase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SOAT1 Gene

No ASD Table

Relevant External Links for SOAT1 Gene

GeneLoc Exon Structure for
SOAT1
ECgene alternative splicing isoforms for
SOAT1

Expression for SOAT1 Gene

mRNA expression in normal human tissues for SOAT1 Gene

mRNA differential expression in normal tissues according to GTEx for SOAT1 Gene

This gene is overexpressed in Adrenal Gland (x11.4).

Protein differential expression in normal tissues from HIPED for SOAT1 Gene

This gene is overexpressed in Monocytes (18.8), Breast (11.5), Adrenal (8.6), Islet of Langerhans (8.1), and Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SOAT1 Gene



Protein tissue co-expression partners for SOAT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SOAT1 Gene:

SOAT1

SOURCE GeneReport for Unigene cluster for SOAT1 Gene:

Hs.445588
genes like me logo Genes that share expression patterns with SOAT1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for SOAT1 Gene

Orthologs for SOAT1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SOAT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SOAT1 34
  • 87.92 (n)
  • 85.25 (a)
SOAT1 35
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC490325 34
  • 90.77 (n)
  • 89.98 (a)
SOAT1 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Soat1 34
  • 83.89 (n)
  • 87.04 (a)
Soat1 16
Soat1 35
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SOAT1 34
  • 99.94 (n)
  • 100 (a)
SOAT1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Soat1 34
  • 83.85 (n)
  • 86.24 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 75 (a)
OneToMany
-- 35
  • 73 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SOAT1 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves SOAT1 34
  • 69.61 (n)
  • 70.72 (a)
SOAT1 35
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SOAT1 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia soat1 34
  • 66.11 (n)
  • 68.69 (a)
Str.11436 34
zebrafish
(Danio rerio)
Actinopterygii soat1 34
  • 62.54 (n)
  • 61.92 (a)
soat1 35
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8112 36
  • 37 (a)
CG8112 34
  • 46.09 (n)
  • 39.3 (a)
CG8112 35
  • 34 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012216 34
  • 48.11 (n)
  • 38.03 (a)
worm
(Caenorhabditis elegans)
Secernentea B0395.2 36
  • 35 (a)
mboa-1 34
  • 47.38 (n)
  • 36.22 (a)
mboa-1 35
  • 28 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARE1 35
  • 15 (a)
ManyToMany
ARE2 35
  • 15 (a)
ManyToMany
Species where no ortholog for SOAT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SOAT1 Gene

ENSEMBL:
Gene Tree for SOAT1 (if available)
TreeFam:
Gene Tree for SOAT1 (if available)

Paralogs for SOAT1 Gene

Paralogs for SOAT1 Gene

(1) SIMAP similar genes for SOAT1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SOAT1: view

Variants for SOAT1 Gene

Sequence variations from dbSNP and Humsavar for SOAT1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs13306731 - 179,351,443(+) ACGTC(A/G)GCACT nc-transcript-variant, reference, missense
rs1034269 -- 179,335,757(+) tggtg(C/T)cactt intron-variant
rs1044925 -- 179,354,603(+) CTGTA(A/C)CATAA nc-transcript-variant, utr-variant-3-prime
rs1475798 -- 179,310,888(-) AAGCA(A/G)TGACT intron-variant
rs1475799 -- 179,310,847(-) AATAA(A/G)TGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SOAT1 Gene

Variant ID Type Subtype PubMed ID
dgv121e212 CNV loss 25503493
dgv223n106 CNV deletion 24896259
dgv643n54 CNV loss 21841781
esv2666168 CNV deletion 23128226
esv2762031 CNV gain 21179565
esv3575338 CNV gain 25503493
esv3578289 CNV loss 25503493
esv3588049 CNV loss 21293372
esv990767 CNV deletion 20482838
nsv1005278 CNV gain 25217958
nsv518403 CNV gain 19592680
nsv523708 CNV loss 19592680
nsv548277 CNV loss 21841781
nsv548279 CNV gain 21841781

Variation tolerance for SOAT1 Gene

Residual Variation Intolerance Score: 25.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.59; 78.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SOAT1 Gene

Human Gene Mutation Database (HGMD)
SOAT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SOAT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOAT1 Gene

Disorders for SOAT1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SOAT1 Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
homozygous familial hypercholesterolemia
  • hofh
sitosterolemia
  • beta-sitosterolemia
gallbladder disease
  • gall bladder
hypercholesterolemia, familial
  • hypercholesterolemia, familial, modifier of
- elite association - COSMIC cancer census association via MalaCards
Search SOAT1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SOAT1

Genetic Association Database (GAD)
SOAT1
Human Genome Epidemiology (HuGE) Navigator
SOAT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SOAT1
genes like me logo Genes that share disorders with SOAT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SOAT1 Gene

Publications for SOAT1 Gene

  1. Molecular cloning and functional expression of human acyl-coenzyme A:cholesterol acyltransferase cDNA in mutant Chinese hamster ovary cells. (PMID: 8407899) Chang C.C.Y. … Chang T.-Y. (J. Biol. Chem. 1993) 2 3 4 22 65
  2. Study on the association between SOAT1 polymorphisms, Alzheimer's disease risk and the level of CSF biomarkers. (PMID: 17622762) Lamsa R. … Soininen H. (Dement Geriatr Cogn Disord 2007) 3 22 46 65
  3. Association between acyl-coenzyme A: cholesterol acyltransferase gene and risk for Alzheimer's disease in Chinese. (PMID: 16043284) Zhao F.G. … Chan P. (Neurosci. Lett. 2005) 3 22 46 65
  4. The active site His-460 of human acyl-coenzyme A:cholesterol acyltransferase 1 resides in a hitherto undisclosed transmembrane domain. (PMID: 16154994) Guo Z.Y. … Chang T.Y. (J. Biol. Chem. 2005) 3 4 22 65
  5. Human acyl-CoA:cholesterol acyltransferase-1 in the endoplasmic reticulum contains seven transmembrane domains. (PMID: 10438503) Lin S. … Chang T.-Y. (J. Biol. Chem. 1999) 3 4 22 65

Products for SOAT1 Gene

Sources for SOAT1 Gene

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