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Tbio Acyl-CoA wax alcohol acyltransferase 1

Acyltransferase that predominantly esterify long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that it plays a central role in lipid metabolism in skin. Has a preference for arachidyl alcohol as well as decyl alcohol, demonstrating its relatively poor activity using saturated long chain alcohols (C16, C18, and C20).

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]

 Comments

Property Summary

NCBI Gene PubMed Count 4
Grant Count 5
R01 Count 5
Funding $552,616.33
PubMed Score 33.20
PubTator Score 16.07

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (4)

Disease Z-score Confidence
Neutral lipid storage disease 14 3.713 1.9
Fatty liver disease 84 3.188 1.6
osteosarcoma 7,933
psoriasis 6,685

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma 1.050 0.000
psoriasis -2.000 0.000

Synonym

Accession Q58HT5 Q5JT21 Q6IEE4
Symbols DGA2
DGAT2L3

Gene

AWAT1

PANTHER Protein Class (2)

 Grant Application (5)

 GO Function (2)

 GO Component (2)

 GO Process (2)

 Compartment GO Term (24)

See all...

Pathway (6)

 UniProt Keyword (10)

Gene RIF (1)

PMID Text
15671038 analysis of AWAT1 and AWAT2 substrate specificity and differentiation-specific expression pattern

AA Sequence 

MAHSKQPSHFQSLMLLQWPLSYLAIFWILQPLFVYLLFTSLWPLPVLYFAWLFLDWKTPERGGRRSAWVR      1 - 70
NWCVWTHIRDYFPITILKTKDLSPEHNYLMGVHPHGLLTFGAFCNFCTEATGFSKTFPGITPHLATLSWF     71 - 140
FKIPFVREYLMAKGVCSVSQPAINYLLSHGTGNLVGIVVGGVGEALQSVPNTTTLILQKRKGFVRTALQH    141 - 210
GAHLVPTFTFGETEVYDQVLFHKDSRMYKFQSCFRRIFGFYCCVFYGQSFCQGSTGLLPYSRPIVTVVGE    211 - 280
PLPLPQIEKPSQEMVDKYHALYMDALHKLFDQHKTHYGCSETQKLFFL                          281 - 328
//

Text Mined References (5)

PMID Year Title
15772651 2005 The DNA sequence of the human X chromosome.
15671038 2005 Identification of two novel human acyl-CoA wax alcohol acyltransferases: members of the diacylglycerol acyltransferase 2 (DGAT2) gene superfamily.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14970677 2003 Genomic organization of the DGAT2/MOGAT gene family in cattle (Bos taurus) and other mammals.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.