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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 58
  • 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 Chronic Leukemia and Homozygous Familial Hypercholesterolemia. Among its related pathways are Statin Pathway and Metabolism. 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

Additional gene information for SOAT1 Gene

No data available for CIViC summary , 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
GH01H179292 1.1 ENCODE 10.3 +1.0 969 3.4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 TOR3A AXDND1 LHX4 ENSG00000261831 CLEC20A RN7SL230P SOAT1 TDRD5 GC01P179293 LOC100420262
GH01H179139 1.5 FANTOM5 ENCODE dbSUPER 6.7 -151.1 -151114 5.6 TBP MXI1 JUN MAX SIN3A RAD21 ZKSCAN1 RFX5 FOSL1 ZNF664 TOR3A ABL2 AXDND1 SOAT1 ENSG00000234041 SETP10
GH01H179190 1.4 FANTOM5 Ensembl ENCODE dbSUPER 5.4 -102.8 -102774 0.7 EED RUNX3 CREM GABPA SPI1 ABL2 AXDND1 SOAT1 TOR3A SETP10 GC01P179198
GH01H179364 1.1 ENCODE 6.7 +72.0 72027 2.2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 ZBTB7B YY1 AXDND1 TDRD5 RN7SL230P ENSG00000261831 CLEC20A LHX4 RALGPS2 SOAT1 TOR3A MEF2AP1
GH01H179309 1.2 FANTOM5 Ensembl ENCODE 5.4 +17.3 17344 2.2 FOSL1 ZNF121 ZNF664 JUND PRDM6 ZNF316 NFE2 FOS MAFK AXDND1 ABL2 TOR3A TDRD5 SOAT1 LOC100420262 GC01P179326 GC01P179325
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000016457 586 1801 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143

Genomic Locations for SOAT1 Gene

Genomic Locations for SOAT1 Gene
chr1:179,293,714-179,358,680
(GRCh38/hg38)
Size:
64,967 bases
Orientation:
Plus strand
chr1:179,262,925-179,327,815
(GRCh37/hg19)

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

Selected DME Specific Peptides for SOAT1 Gene

P35610:
  • DWWNSTS
  • PTYVVLAYTLPPASRFI
  • SAVVHEYALAVCLS
  • GYSKSSHPLI
  • CPLKNPTFLDYVRPR
  • VVDYIDEGRLVLEF
  • YAFGKFPTV
  • PTVNQYLYFLFAPTLIYRD
  • VRENVPRVL
  • NHRAKDLRAPPEQGKIFI
  • IVNDSRK
  • RRSLLDEL
  • FFAFLHCWLNAFAEMLRFGDRMFY
  • SNYYRTWNVVVHDWLY

Post-translational modifications for SOAT1 Gene

  • Ubiquitination at Lys45, Lys62, isoforms=2, 3120, and isoforms=2, 3531
  • Modification sites at PhosphoSitePlus

Other Protein References for SOAT1 Gene

Domains & Families for SOAT1 Gene

Gene Families for SOAT1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Predicted membrane proteins

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

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 IDA,IMP 8407899
GO:0005515 protein binding IPI 21044950
GO:0008374 O-acyltransferase activity IEA --
GO:0015485 cholesterol binding IDA 16647063
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

Clone Products

No data available for Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SOAT1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
extracellular 2
peroxisome 2
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SOAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA 10623671
GO:0005789 endoplasmic reticulum membrane TAS,IDA --
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 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:0006629 lipid metabolic process IEA --
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IMP 8407899
GO:0010742 macrophage derived foam cell differentiation NAS 18971559
GO:0010878 cholesterol storage IMP 8407899
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ezetimibe Approved Pharma Target, inhibitor Cholesterol transport inhibitor 283
Hesperetin Approved Pharma Target, inhibitor 0
Omega-3-acid ethyl esters Approved Pharma Enzyme, inhibitor 0
cholesterol Experimental Pharma Agonist 0
CE(18:2(9Z,12Z)) Experimental Pharma 0

(96) 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

Drug Products

Transcripts for SOAT1 Gene

Unigene Clusters for SOAT1 Gene

Sterol O-acyltransferase 1:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for SOAT1 Gene

  • Adrenal gland(3.3)
  • Nervous system(3)
  • Liver(2.6)
  • Intestine(2.2)
  • Blood(2)
genes like me logo Genes that share expression patterns with SOAT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia SOAT1 33 34
  • 99.94 (n)
dog
(Canis familiaris)
Mammalia LOC490325 33
  • 90.77 (n)
SOAT1 34
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SOAT1 33 34
  • 87.92 (n)
mouse
(Mus musculus)
Mammalia Soat1 33 16 34
  • 83.89 (n)
rat
(Rattus norvegicus)
Mammalia Soat1 33
  • 83.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SOAT1 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 75 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves SOAT1 34 33
  • 69.61 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SOAT1 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia soat1 33
  • 66.11 (n)
Str.11436 33
zebrafish
(Danio rerio)
Actinopterygii soat1 33 34
  • 62.54 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012216 33
  • 48.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8112 35 33 34
  • 46.09 (n)
worm
(Caenorhabditis elegans)
Secernentea mboa-1 34 33
  • 47.38 (n)
OneToMany
B0395.2 35
  • 35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARE1 34
  • 15 (a)
ManyToMany
ARE2 34
  • 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
rs1000039288 -- 179,315,359(+) CTTGG(A/G)AGGCT intron-variant
rs1000042421 -- 179,338,418(+) GCTGT(C/G)TCAAT intron-variant
rs1000066189 -- 179,321,877(+) CCTTC(C/T)TTTTT intron-variant
rs1000109723 -- 179,343,319(+) TCCTG(G/T)GTTCA intron-variant
rs1000177625 -- 179,350,208(+) AGGTG(C/T)CTTTG intron-variant

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

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

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

(5) MalaCards diseases for SOAT1 Gene - From: HGMD, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chronic leukemia
  • adult chronic leukemia
homozygous familial hypercholesterolemia
  • hofh
sitosterolemia
  • phytosterolemia
gallbladder disease
  • gallbladder dysfunction
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 CC … Chang TY (The Journal of biological chemistry 1993) 2 3 4 22 60
  2. Study on the association between SOAT1 polymorphisms, Alzheimer's disease risk and the level of CSF biomarkers. (PMID: 17622762) Lamsa R … Soininen H (Dementia and geriatric cognitive disorders 2007) 3 22 45 60
  3. The active site His-460 of human acyl-coenzyme A:cholesterol acyltransferase 1 resides in a hitherto undisclosed transmembrane domain. (PMID: 16154994) Guo ZY … Chang TY (The Journal of biological chemistry 2005) 3 4 22 60
  4. Association between acyl-coenzyme A: cholesterol acyltransferase gene and risk for Alzheimer's disease in Chinese. (PMID: 16043284) Zhao FG … Chan P (Neuroscience letters 2005) 3 22 45 60
  5. Human acyl-CoA:cholesterol acyltransferase-1 in the endoplasmic reticulum contains seven transmembrane domains. (PMID: 10438503) Lin S … Chang TY (The Journal of biological chemistry 1999) 3 4 22 60

Products for SOAT1 Gene

Sources for SOAT1 Gene

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