AWAT1 Gene
protein-coding GIFtS: 43
GCID: GC0XP069455
|
|
acyl-CoA wax alcohol acyltransferase 1(Previous name: diacylglycerol O-acyltransferase 2-like 3 )
(Previous symbol: DGAT2L3)
| |
Aliases
for AWAT1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Acyl-CoA Wax Alcohol Acyltransferase 11 2 | | Long-Chain-Alcohol O-Fatty-Acyltransferase 12 3 | | DGAT2L31 2 3 | | DGA22 3 | | Diacylglycerol O-Acyltransferase 2-Like 31 2 | | Diacyl-Glycerol Acyltransferase 22 | | Diacylglycerol Acyltransferase 22 3 | | EC 2.3.1.753 | | Diacylglycerol O-Acyltransferase 2-Like Protein 32 3 | | |
Export aliases for AWAT1 gene to outside databasesPrevious GC identifers: GC0XP069372 GC0XP063275 |
Summaries
for AWAT1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for AWAT1:
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 thatthis enzyme plays a central role in lipid metabolism in skin. Consistent with this observation, this protein ispredominantly expressed in the sebaceous gland of the skin. (provided by RefSeq, Sep 2009)
UniProtKB/Swiss-Prot: AWAT1_HUMAN, Q58HT5Function: Acyltransferase that predominantly esterify long chain (wax) alcohols with acyl-CoA-derived fatty acids toproduce wax esters. Wax esters are enriched in sebum, suggesting that it plays a central role in lipid metabolism inskin. Has a preference for arachidyl alcohol as well as decyl alcohol, demonstrating its relatively poor activityusing saturated long chain alcohols (C16, C18, and C20)
|
Genomic Views
for AWAT1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_011669.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the AWAT1 gene promoter:
COUP-TF1 AhR Egr-1 COUP HNF-4alpha2 HNF-4alpha1 AREB6 PPAR-gamma1 COUP-TF PPAR-gamma2
Other transcription factors
Search SABiosciences Chromatin IP Primers for AWAT1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AWAT1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xq13.1 Ensembl cytogenetic band: Xq13.1 HGNC cytogenetic band: Xq13.1AWAT1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XP069455: view genomic region
(about GC identifiers)
Start:
|
69,454,505 bp from pter |
End:
|
69,460,511 bp from pter |
Size:
|
6,007 bases |
Orientation:
|
plus strand |
|
Proteins
for AWAT1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: AWAT1_HUMAN, Q58HT5 (See
protein sequence)Recommended Name: Acyl-CoA wax alcohol acyltransferase 1 Size: 328 amino acids; 37759 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: Q5JT21 Q6IEE4Explore the universe of human proteins at neXtProt for AWAT1: NX_Q58HT5
AWAT1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001013597.1
ENSEMBL proteins: ENSP00000363645
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005789 | endoplasmic reticulum membrane |
IEA | -- | | GO:0016021 | integral to membrane |
IEA | -- |
AWAT1 for ontologies About GeneDecksing
AWAT1 Antibody Products:
Assay Products for AWAT1: |
Protein
Domains /
Families
for AWAT1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
AWAT1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q58HT5ProtoNet protein and cluster: Q58HT5 UniProtKB/Swiss-Prot: AWAT1_HUMAN, Q58HT5Similarity: Belongs to the diacylglycerol acyltransferase family |
Function
for AWAT1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: AWAT1_HUMAN, Q58HT5Function: Acyltransferase that predominantly esterify long chain (wax) alcohols with acyl-CoA-derived fatty acids toproduce wax esters. Wax esters are enriched in sebum, suggesting that it plays a central role in lipid metabolism inskin. Has a preference for arachidyl alcohol as well as decyl alcohol, demonstrating its relatively poor activityusing saturated long chain alcohols (C16, C18, and C20)Catalytic activity: Acyl-CoA + a long-chain alcohol = CoA + a long-chain esterBiophysicochemical properties: Kinetic parameters: Vmax=31.7 pmol/min/mg enzyme with [14C]oleoyl-CoA as substrate;Vmax=113 pmol/min/mg enzyme with [14C]cetyl-CoA as substrate;Enzyme Number (IUBMB): EC 2.3.1.751
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AWAT1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AWAT1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: AWAT1 (NM_001013579) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AWAT1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AWAT1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AWAT1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0047196 | long-chain-alcohol O-fatty-acyltransferase activity |
IEA | -- |
AWAT1 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for AWAT1:
|
Pathways & Interactions
for AWAT1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AWAT1
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006629 | lipid metabolic process |
IEA | -- | | GO:0008610 | lipid biosynthetic process |
-- | -- |
AWAT1 for ontologies About GeneDecksing
|
Drugs & Compounds
for AWAT1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for AWAT1
10/887 HMDB Compounds for AWAT1 (see all 887) About this table
Search CenterWatch for drugs/clinical trials and news about AWAT1
|
Transcripts
for AWAT1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for AWAT1 gene: NM_001013579.2 Unigene Cluster for AWAT1: Acyl-CoA wax alcohol acyltransferase 1 Hs.407641 [show with all ESTs]Unigene Representative Sequence: NM_0010135792 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000480702 ENST00000374521(uc004dxy.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AWAT1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AWAT1
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: AWAT1 (NM_001013579) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AWAT1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AWAT1 |
Additional cDNA sequence: AY947638.1 BC039181.1 1 DOTS entry: DT.40115400 9 AceView cDNA sequences: BX333591 BC039181 CR620112 BG739799 BX333590 BG674782 BG742855 W68831 W68738
GeneLoc Exon Structure
|
Expression
for AWAT1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| AWAT1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGGGGCCTG
About this image
See AWAT1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AWAT1
SOURCE GeneReport for Unigene cluster: Hs.407641
UniProtKB/Swiss-Prot: AWAT1_HUMAN, Q58HT5Tissue specificity: Predominantly expressed in skin, where it is limited to the sebaceous gland. Expressed in moremature, centrally located cells just before their rupture and sebum release. Also expressed in all tissues exceptspleen. Expressed at higher level in thymus, prostate and testis
SABiosciences Custom PCR Arrays for AWAT1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AWAT1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AWAT1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AWAT1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AWAT1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AWAT1 |
Orthologs
for AWAT1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for AWAT1 gene from 5/19 species (see all 19) About this table
ENSEMBL Gene Tree for AWAT1 (if available)
TreeFam Gene Tree for AWAT1 (if available) |
Paralogs
for AWAT1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for AWAT1 gene
- MOGAT32 DGAT2L7P2 MOGAT12 DGAT22 DGAT2L62 AWAT22 MOGAT22
6 SIMAP similar genes for AWAT1 using alignment to 1 protein entry: AWAT1_HUMAN:DGAT2L6 AWAT2 DGAT2 MOGAT3 MOGAT1 MOGAT2
AWAT1 for paralogs About GeneDecksing
|
Genomic Variants
for AWAT1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for AWAT1 (69454505 - 69460511 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for AWAT1: --
Locus Specific Mutation Databases (LSDB): AWAT1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AWAT1 |
|
Disorders
/ Diseases
for AWAT1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
AWAT1 for disorders About GeneDecksing
2  diseases for AWAT1: About MalaCardsalcoholism prostatitis
Export disorders for AWAT1 gene to outside databases
|
Publications
for AWAT1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for AWAT1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with AWAT1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of two novel human Acyl-CoA wax alcohol acyltransferases: members of the diacylglycerol acyltransferase 2 (DGAT2) gene superfamily. (PubMed id 15671038)1, 2, 3 Turkish A.R.... Sturley S.L. (2005)
- Genomic organization of the DGAT2/MOGAT gene family in cattle (Bos taurus) and other mammals. (PubMed id 14970677)1, 2, 3 Winter A....Fries R. (2003)
- The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Insights into the bile acid transportation system: the human ileal lipid-binding protein-cholyltaurine complex and its comparison with homologous structures. (PubMed id 12486725)6 Kurz M....Kramer W. (2003)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- Comparative genomics and proteomics of vertebrate dia cylglycerol acyltransferase (DGAT), acyl CoA wax alcohol acyltransferase (AWAT) and monoacylglycerol acyltransferase (MGAT). (PubMed id 20374941)9 Holmes R.S. (2010)
|
External Searches for AWAT1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing AWAT1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing AWAT1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AWAT1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for AWAT1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for AWAT1 gene:
Search GeneIP for patents involving AWAT1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for AWAT1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for AWAT1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AWAT1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AWAT1 | | | OriGene Protein Over-expression Lysate for AWAT1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for AWAT1 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AWAT1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AWAT1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for AWAT1 | | OriGene Custom Protein Services for AWAT1 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AWAT1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AWAT1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AWAT1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AWAT1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AWAT1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AWAT1 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for AWAT1 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | AWAT1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AWAT1 |
|  |  |  | | | | Search ThermoFisher Antibodies for AWAT1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AWAT1 |
|
|
|
|
