The protein encoded by this gene belongs to the diacylglycerol acyltransferase family. It esterifies long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that this enzyme plays a central role in lipid metabolism in skin. Consistent with this observation, this protein is predominantly expressed in the seb... See more...

Aliases for AWAT1 Gene

Aliases for AWAT1 Gene

  • Acyl-CoA Wax Alcohol Acyltransferase 1 2 3 4 5
  • Diacylglycerol O-Acyltransferase 2-Like Protein 3 3 4
  • Long-Chain-Alcohol O-Fatty-Acyltransferase 1 3 4
  • Diacylglycerol O-Acyltransferase 2-Like 3 2 3
  • Diacylglycerol Acyltransferase 2 3 4
  • DGAT2L3 3 4
  • DGA2 3 4
  • Diacyl-Glycerol Acyltransferase 2 3
  • EC 2.3.1.75 4
  • AWAT1 5

External Ids for AWAT1 Gene

Previous HGNC Symbols for AWAT1 Gene

  • DGAT2L3

Previous GeneCards Identifiers for AWAT1 Gene

  • GC0XP069372
  • GC0XP069455
  • GC0XP063275

Summaries for AWAT1 Gene

Entrez Gene Summary for AWAT1 Gene

  • The protein encoded by this gene belongs to the diacylglycerol acyltransferase family. It esterifies long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that this enzyme plays a central role in lipid metabolism in skin. Consistent with this observation, this protein is predominantly expressed in the sebaceous gland of the skin. [provided by RefSeq, Sep 2009]

GeneCards Summary for AWAT1 Gene

AWAT1 (Acyl-CoA Wax Alcohol Acyltransferase 1) is a Protein Coding gene. Diseases associated with AWAT1 include Abnormal Pupillary Function and Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2. Among its related pathways are Wax biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups other than amino-acyl groups and long-chain-alcohol O-fatty-acyltransferase activity. An important paralog of this gene is DGAT2L6.

UniProtKB/Swiss-Prot Summary for AWAT1 Gene

  • Acyltransferase that catalyzes the formation of ester bonds between fatty alcohols and fatty acyl-CoAs to form wax monoesters (PubMed:15671038). Shows a strong preference for decyl alcohol (C10), with less activity towards C16 and C18 alcohols (PubMed:15671038). Shows a strong preference for saturated acyl-CoAs (PubMed:15671038).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AWAT1 Gene

Genomics for AWAT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AWAT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ070219 Enhancer 1 Ensembl ENCODE 0.4 -13.2 -13150 1.2 NCOR1 ZNF10 NFIC ZNF217 HES1 ZNF148 FOXA2 CTBP1 CUX1 TAL1 HSALNG0138416 RN7SL581P lnc-P2RY4-2 MED12 KIF4A piR-48553-359 AWAT1 DGAT2L6
GH0XJ070253 Enhancer 0.8 Ensembl ENCODE 0.4 +20.6 20642 2.3 FOXA2 RARA FOSL2 JUND CREM BCL6 NR2F6 JUN ATF3 GATAD2A HSALNG0138420 HSALNG0138421 RNA5SP507 P2RY4 AWAT1
GH0XJ070242 Enhancer 0.2 Ensembl 0.4 +10.0 10012 0.6 ARR3 RAB41 HSALNG0138420 AWAT1 P2RY4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AWAT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AWAT1

Top Transcription factor binding sites by QIAGEN in the AWAT1 gene promoter:
  • AhR
  • AREB6
  • COUP
  • COUP-TF
  • COUP-TF1
  • Egr-1
  • HNF-4alpha1
  • HNF-4alpha2
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for AWAT1 Gene

Latest Assembly
chrX:70,233,489-70,240,661
(GRCh38/hg38)
Size:
7,173 bases
Orientation:
Plus strand

Previous Assembly
chrX:69,454,505-69,460,509
(GRCh37/hg19 by Entrez Gene)
Size:
6,005 bases
Orientation:
Plus strand

chrX:69,454,505-69,460,477
(GRCh37/hg19 by Ensembl)
Size:
5,973 bases
Orientation:
Plus strand

Genomic View for AWAT1 Gene

Genes around AWAT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AWAT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AWAT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AWAT1 Gene

Proteins for AWAT1 Gene

  • Protein details for AWAT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q58HT5-AWAT1_HUMAN
    Recommended name:
    Acyl-CoA wax alcohol acyltransferase 1
    Protein Accession:
    Q58HT5
    Secondary Accessions:
    • Q5JT21
    • Q6IEE4

    Protein attributes for AWAT1 Gene

    Size:
    328 amino acids
    Molecular mass:
    37759 Da
    Quaternary structure:
    No Data Available

neXtProt entry for AWAT1 Gene

Post-translational modifications for AWAT1 Gene

No Post-translational modifications

Other Protein References for AWAT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AWAT1 Gene

Domains & Families for AWAT1 Gene

Gene Families for AWAT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for AWAT1 Gene

InterPro:

Suggested Antigen Peptide Sequences for AWAT1 Gene

GenScript: Design optimal peptide antigens:
  • Long-chain-alcohol O-fatty-acyltransferase 1 (AWAT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q58HT5

UniProtKB/Swiss-Prot:

AWAT1_HUMAN :
  • Belongs to the diacylglycerol acyltransferase family.
Family:
  • Belongs to the diacylglycerol acyltransferase family.
genes like me logo Genes that share domains with AWAT1: view

Function for AWAT1 Gene

Molecular function for AWAT1 Gene

UniProtKB/Swiss-Prot Function:
Acyltransferase that catalyzes the formation of ester bonds between fatty alcohols and fatty acyl-CoAs to form wax monoesters (PubMed:15671038). Shows a strong preference for decyl alcohol (C10), with less activity towards C16 and C18 alcohols (PubMed:15671038). Shows a strong preference for saturated acyl-CoAs (PubMed:15671038).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a long chain fatty alcohol + an acyl-CoA = a wax ester + CoA; Xref=Rhea:RHEA:38443, ChEBI:CHEBI:10036, ChEBI:CHEBI:17135, ChEBI:CHEBI:57287, ChEBI:CHEBI:58342; EC=2.3.1.75; Evidence={ECO:0000269|PubMed:15671038};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoyl-CoA + 1,2-di-(9Z-octadecenoyl)-sn-glycerol = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:38219, ChEBI:CHEBI:52333, ChEBI:CHEBI:53753, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387; Evidence={ECO:0000269|PubMed:15671038};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoyl-CoA + hexadecan-1-ol = CoA + hexadecanyl (9Z)-octadecenoate; Xref=Rhea:RHEA:38227, ChEBI:CHEBI:16125, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75622; Evidence={ECO:0000269|PubMed:15671038};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoyl-CoA + decan-1-ol = 1-O-decyl-(9Z)-octadecenoate + CoA; Xref=Rhea:RHEA:38223, ChEBI:CHEBI:28903, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75620; Evidence={ECO:0000269|PubMed:15671038};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-hexadecen-1-ol + (9Z)-octadecenoyl-CoA = 1-O-(9Z)-hexadecenyl (9Z)-octadecenoate + CoA; Xref=Rhea:RHEA:38231, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75623, ChEBI:CHEBI:75624; Evidence={ECO:0000269|PubMed:15671038};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoyl-CoA + octadecan-1-ol = 1-O-octadecyl (9Z)-octadecenoate + CoA; Xref=Rhea:RHEA:38235, ChEBI:CHEBI:32154, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75625; Evidence={ECO:0000269|PubMed:15671038};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecen-1-ol + (9Z)-octadecenoyl-CoA = 1-O-(9Z)-octadecenyl (9Z)-octadecenoate + CoA; Xref=Rhea:RHEA:38239, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:73504, ChEBI:CHEBI:75626; Evidence={ECO:0000269|PubMed:15671038};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=hexadecan-1-ol + hexadecanoyl-CoA = CoA + hexadecanyl hexadecanoate; Xref=Rhea:RHEA:38167, ChEBI:CHEBI:16125, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:75584; Evidence={ECO:0000269|PubMed:15671038};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-hexadecenoyl-CoA + hexadecan-1-ol = 1-O-hexadecyl (9Z)-hexadecenoate + CoA; Xref=Rhea:RHEA:38247, ChEBI:CHEBI:16125, ChEBI:CHEBI:57287, ChEBI:CHEBI:61540, ChEBI:CHEBI:75629; Evidence={ECO:0000269|PubMed:15671038};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=hexadecan-1-ol + octadecanoyl-CoA = CoA + hexadecanyl octadecanoate; Xref=Rhea:RHEA:38251, ChEBI:CHEBI:16125, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:75631; Evidence={ECO:0000269|PubMed:15671038};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoyl-CoA + eicosan-1-ol = 1-O-eicosanyl (9Z)-octadecenoate + CoA; Xref=Rhea:RHEA:38243, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75627, ChEBI:CHEBI:75628; Evidence={ECO:0000269|PubMed:15671038};.

Enzyme Numbers (IUBMB) for AWAT1 Gene

Gene Ontology (GO) - Molecular Function for AWAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008374 O-acyltransferase activity IBA 21873635
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups IEA --
GO:0047196 long-chain-alcohol O-fatty-acyltransferase activity IBA 21873635
genes like me logo Genes that share ontologies with AWAT1: view
genes like me logo Genes that share phenotypes with AWAT1: view

Animal Models for AWAT1 Gene

MGI Knock Outs for AWAT1:
  • Awat1 Awat1<tm1b(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AWAT1

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for AWAT1 Gene

Localization for AWAT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AWAT1 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 AWAT1 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 3
golgi apparatus 3
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
lysosome 1

Gene Ontology (GO) - Cellular Components for AWAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with AWAT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AWAT1 Gene

Pathways & Interactions for AWAT1 Gene

genes like me logo Genes that share pathways with AWAT1: view

Pathways by source for AWAT1 Gene

Interacting Proteins for AWAT1 Gene

Gene Ontology (GO) - Biological Process for AWAT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IBA 21873635
GO:0010025 wax biosynthetic process TAS --
GO:0019369 arachidonic acid metabolic process TAS --
genes like me logo Genes that share ontologies with AWAT1: view

No data available for SIGNOR curated interactions for AWAT1 Gene

Drugs & Compounds for AWAT1 Gene

(7) Drugs for AWAT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
1-Hexadecanol Approved Pharma 0
Vitamin A Approved, Vet_approved Nutra 747
Dodecanol Experimental Pharma 0
Hexanoyl-CoA Experimental Pharma 0
Octadecanol Experimental Pharma 0

(42) Additional Compounds for AWAT1 Gene - From: HMDB

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
  • Dodecenoyl-CoA
  • Dodecenoyl+2-dodecenoyl, (e)-isomer
  • Dodecenoyl-coenzyme A
  • Dodecenoyl+2-dodecenoyl
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
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-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4
genes like me logo Genes that share compounds with AWAT1: view

Transcripts for AWAT1 Gene

mRNA/cDNA for AWAT1 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AWAT1

Alternative Splicing Database (ASD) splice patterns (SP) for AWAT1 Gene

No ASD Table

Relevant External Links for AWAT1 Gene

GeneLoc Exon Structure for
AWAT1

Expression for AWAT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AWAT1 Gene

mRNA differential expression in normal tissues according to GTEx for AWAT1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x30.7) and Skin - Sun Exposed (Lower leg) (x12.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AWAT1

SOURCE GeneReport for Unigene cluster for AWAT1 Gene:

Hs.407641

mRNA Expression by UniProt/SwissProt for AWAT1 Gene:

Q58HT5-AWAT1_HUMAN
Tissue specificity: Predominantly expressed in skin, where it is limited to the sebaceous gland. Expressed in more mature, centrally located cells just before their rupture and sebum release. Also expressed in all tissues except spleen. Expressed at higher level in thymus, prostate and testis.

Evidence on tissue expression from TISSUES for AWAT1 Gene

  • Skin(4.3)
  • Liver(2.4)
genes like me logo Genes that share expression patterns with AWAT1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AWAT1 Gene

Orthologs for AWAT1 Gene

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

Orthologs for AWAT1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AWAT1 29 30
  • 92.07 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AWAT1 29 30
  • 90.33 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AWAT1 29 30
  • 88.48 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Awat1 29
  • 84.76 (n)
Mouse
(Mus musculus)
Mammalia Awat1 29 16 30
  • 84.76 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AWAT1 30
  • 71 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 42 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG1942 30
  • 32 (a)
ManyToMany
CG1941 30
  • 31 (a)
ManyToMany
CG1946 30
  • 30 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea Y53G8B.2 30
  • 38 (a)
ManyToMany
K07B1.4 30
  • 37 (a)
ManyToMany
dgat-2 30
  • 34 (a)
ManyToMany
dgtr-1 30
  • 33 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DGA1 30
  • 30 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 36 (a)
OneToMany
Species where no ortholog for AWAT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Chicken (Gallus gallus)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for AWAT1 Gene

ENSEMBL:
Gene Tree for AWAT1 (if available)
TreeFam:
Gene Tree for AWAT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AWAT1: view image
Alliance of Genome Resources:
Additional Orthologs for AWAT1

Paralogs for AWAT1 Gene

Paralogs for AWAT1 Gene

(6) SIMAP similar genes for AWAT1 Gene using alignment to 1 proteins:

  • AWAT1_HUMAN
genes like me logo Genes that share paralogs with AWAT1: view

Variants for AWAT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AWAT1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs61750915 Benign: not provided 70,240,176(+) C/T
NM_001013579.3(AWAT1):c.873C>T (p.Ser291=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AWAT1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for AWAT1 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER inversion 17803354
esv3574035 CNV loss 25503493
nsv519741 CNV gain 19592680
nsv520416 CNV loss 19592680
nsv522033 CNV gain 19592680
nsv527253 CNV gain 19592680

Variation tolerance for AWAT1 Gene

Residual Variation Intolerance Score: 52.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.00; 36.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AWAT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AWAT1
Leiden Open Variation Database (LOVD)
AWAT1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AWAT1 Gene

Disorders for AWAT1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for AWAT1 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search AWAT1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AWAT1

genes like me logo Genes that share disorders with AWAT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AWAT1 Gene

Publications for AWAT1 Gene

  1. Identification of two novel human acyl-CoA wax alcohol acyltransferases: members of the diacylglycerol acyltransferase 2 (DGAT2) gene superfamily. (PMID: 15671038) Turkish AR … Sturley SL (The Journal of biological chemistry 2005) 2 3 4
  2. Genomic organization of the DGAT2/MOGAT gene family in cattle (Bos taurus) and other mammals. (PMID: 14970677) Winter A … Fries R (Cytogenetic and genome research 2003) 2 3 4
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. Comparative genomics and proteomics of vertebrate diacylglycerol acyltransferase (DGAT), acyl CoA wax alcohol acyltransferase (AWAT) and monoacylglycerol acyltransferase (MGAT). (PMID: 20374941) Holmes RS (Comparative biochemistry and physiology. Part D, Genomics & proteomics 2010) 22

Products for AWAT1 Gene

Sources for AWAT1 Gene