LOCUS       NM_001002254            2124 bp    mRNA    linear   PRI 12-MAY-2024
DEFINITION  Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.
ACCESSION   NM_001002254 XM_088683
VERSION     NM_001002254.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2124)
  AUTHORS   Rho,C.R., Kim,S.W., Lane,S., Gao,F., Kim,J., Xie,Y., Brown,D.J.,
            Skowronska-Krawczyk,D. and Jester,J.V.
  TITLE     Expression of Acyl-CoA wax-alcohol acyltransferase 2 (AWAT2) by
            human and rabbit meibomian glands and meibocytes
  JOURNAL   Ocul Surf 23, 60-70 (2022)
   PUBMED   34838721
  REMARK    GeneRIF: Expression of Acyl-CoA wax-alcohol acyltransferase 2
            (AWAT2) by human and rabbit meibomian glands and meibocytes.
REFERENCE   2  (bases 1 to 2124)
  AUTHORS   Ma,Z., Onorato,J.M., Chen,L., Nelson,D.W., Yen,C.E. and Cheng,D.
  TITLE     Synthesis of neutral ether lipid monoalkyl-diacylglycerol by lipid
            acyltransferases
  JOURNAL   J Lipid Res 58 (6), 1091-1099 (2017)
   PUBMED   28420705
REFERENCE   3  (bases 1 to 2124)
  AUTHORS   Arne,J.M., Widjaja-Adhi,M.A.K., Hughes,T., Huynh,K.W.,
            Silvaroli,J.A., Chelstowska,S., Moiseenkova-Bell,V.Y. and
            Golczak,M.
  TITLE     Allosteric modulation of the substrate specificity of acyl-CoA wax
            alcohol acyltransferase 2
  JOURNAL   J Lipid Res 58 (4), 719-730 (2017)
   PUBMED   28096191
REFERENCE   4  (bases 1 to 2124)
  AUTHORS   Kaylor,J.J., Cook,J.D., Makshanoff,J., Bischoff,N., Yong,J. and
            Travis,G.H.
  TITLE     Identification of the 11-cis-specific retinyl-ester synthase in
            retinal Muller cells as multifunctional O-acyltransferase (MFAT)
  JOURNAL   Proc Natl Acad Sci U S A 111 (20), 7302-7307 (2014)
   PUBMED   24799687
REFERENCE   5  (bases 1 to 2124)
  AUTHORS   Holmes,R.S.
  TITLE     Comparative genomics and proteomics of vertebrate diacylglycerol
            acyltransferase (DGAT), acyl CoA wax alcohol acyltransferase (AWAT)
            and monoacylglycerol acyltransferase (MGAT)
  JOURNAL   Comp Biochem Physiol Part D Genomics Proteomics 5 (1), 45-54 (2010)
   PUBMED   20374941
REFERENCE   6  (bases 1 to 2124)
  AUTHORS   Yen,C.L., Brown,C.H. 4th, Monetti,M. and Farese,R.V. Jr.
  TITLE     A human skin multifunctional O-acyltransferase that catalyzes the
            synthesis of acylglycerols, waxes, and retinyl esters
  JOURNAL   J Lipid Res 46 (11), 2388-2397 (2005)
   PUBMED   16106050
  REMARK    GeneRIF: MFAT is a multifunctional acyltransferase that likely
            plays an important role in lipid metabolism in human skin.
REFERENCE   7  (bases 1 to 2124)
  AUTHORS   Turkish,A.R., Henneberry,A.L., Cromley,D., Padamsee,M., Oelkers,P.,
            Bazzi,H., Christiano,A.M., Billheimer,J.T. and Sturley,S.L.
  TITLE     Identification of two novel human acyl-CoA wax alcohol
            acyltransferases: members of the diacylglycerol acyltransferase 2
            (DGAT2) gene superfamily
  JOURNAL   J Biol Chem 280 (15), 14755-14764 (2005)
   PUBMED   15671038
  REMARK    GeneRIF: analysis of AWAT1 and AWAT2 substrate specificity and
            differentiation-specific expression pattern
REFERENCE   8  (bases 1 to 2124)
  AUTHORS   Cheng,J.B. and Russell,D.W.
  TITLE     Mammalian wax biosynthesis. II. Expression cloning of wax synthase
            cDNAs encoding a member of the acyltransferase enzyme family
  JOURNAL   J Biol Chem 279 (36), 37798-37807 (2004)
   PUBMED   15220349
REFERENCE   9  (bases 1 to 2124)
  AUTHORS   Winter,A., van Eckeveld,M., Bininda-Emonds,O.R., Habermann,F.A. and
            Fries,R.
  TITLE     Genomic organization of the DGAT2/MOGAT gene family in cattle (Bos
            taurus) and other mammals
  JOURNAL   Cytogenet Genome Res 102 (1-4), 42-47 (2003)
   PUBMED   14970677
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY605053.1 and BC063698.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 30, 2004 this sequence version replaced XM_088683.3.
            
            Summary: This gene encodes an enzyme belonging to the
            diacylglycerol acyltransferase family. This enzyme produces wax
            esters by the esterification of long chain (or wax) alcohols with
            acyl-CoA-derived fatty acids. It functions in lipid metabolism in
            the skin, mostly in undifferentiated peripheral sebocytes. This
            enzyme may also have acyl-CoA:retinol acyltransferase activities,
            where it catalyzes the synthesis of diacylglycerols and retinyl
            esters. [provided by RefSeq, May 2010].
            
            ##Evidence-Data-START##
            CDS exon combination :: AY605053.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2163623 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000276101.7/ ENSP00000421172.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1030              AY605053.1         1-1030
            1031-2124           BC063698.1         501-1594
FEATURES             Location/Qualifiers
     source          1..2124
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     gene            1..2124
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /note="acyl-CoA wax alcohol acyltransferase 2"
                     /db_xref="GeneID:158835"
                     /db_xref="HGNC:HGNC:23251"
                     /db_xref="MIM:300925"
     exon            1..91
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /inference="alignment:Splign:2.1.0"
     CDS             7..1008
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /EC_number="2.3.1.20"
                     /EC_number="2.3.1.75"
                     /EC_number="2.3.1.76"
                     /note="multifunctional O-acyltransferase; diacylglycerol
                     O-acyltransferase candidate 4; long-chain-alcohol
                     O-fatty-acyltransferase 2; diacylglycerol
                     O-acyltransferase 2-like protein 4; retinol
                     O-fatty-acyltransferase; acyl-CoA retinol
                     O-fatty-acyltransferase; 11-cis-RE-synthase;
                     11-cis-specific retinyl-ester synthase"
                     /codon_start=1
                     /product="acyl-CoA wax alcohol acyltransferase 2"
                     /protein_id="NP_001002254.1"
                     /db_xref="CCDS:CCDS35320.1"
                     /db_xref="GeneID:158835"
                     /db_xref="HGNC:HGNC:23251"
                     /db_xref="MIM:300925"
                     /translation="MLLPSKKDLKTALDVFAVFQWSFSALLITTTVIAVNLYLVVFTP
                     YWPVTVLILTWLAFDWKTPQRGGRRFTCVRHWRLWKHYSDYFPLKLLKTHDICPSRNY
                     ILVCHPHGLFAHGWFGHFATEASGFSKIFPGITPYILTLGAFFWMPFLREYVMSTGAC
                     SVSRSSIDFLLTHKGTGNMVIVVIGGLAECRYSLPGSSTLVLKNRSGFVRMALQHGVP
                     LIPAYAFGETDLYDQHIFTPGGFVNRFQKWFQSMVHIYPCAFYGRGFTKNSWGLLPYS
                     RPVTTIVGEPLPMPKIENPSQEIVAKYHTLYIDALRKLFDQHKTKFGISETQELEII"
     exon            92..202
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            203..273
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            274..478
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            479..653
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            654..853
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            854..1043
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /inference="alignment:Splign:2.1.0"
     exon            1044..2124
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1163..1168
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /note="hexamer: AATAAA"
     polyA_site      1186
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /note="major polyA site"
     regulatory      2103..2108
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /note="hexamer: CATAAA"
     polyA_site      2124
                     /gene="AWAT2"
                     /gene_synonym="ARAT; DC4; DGAT2L4; MFAT; WS"
                     /note="major polyA site"
ORIGIN      
        1 ggcacaatgc tcttgccctc taagaaggac ctcaagactg ccctggatgt ctttgctgtt
       61 ttccagtggt ccttcagtgc cttgcttatc acaaccactg tgattgctgt caacctctac
      121 ctggtggtgt tcacaccata ctggcctgtc actgtgctta ttcttacctg gctggctttt
      181 gactggaaga cccctcagcg aggcggccgc cggtttacct gtgtgaggca ctggcgcctg
      241 tggaaacact acagcgatta tttccctctc aagcttctga agactcatga catctgcccc
      301 agccgcaact acatcctcgt ctgccaccct catgggctct ttgcccatgg atggtttggc
      361 cactttgcca cagaggcctc aggcttctcc aagatatttc ctggcatcac cccttacata
      421 ctcacactgg gagccttttt ctggatgcct ttcctcagag aatatgtaat gtctacaggg
      481 gcctgctctg tgagtcgatc ctccattgac tttctgctga ctcataaagg cacaggcaac
      541 atggtcattg tggtgattgg tggactggct gagtgcagat acagcctgcc aggttcttct
      601 accctggtgt tgaagaaccg gtctggcttt gtgcgcatgg cccttcagca tggggtgcct
      661 ctaatacctg cctatgcctt tggggagacg gacctctatg atcagcacat tttcactcct
      721 ggtggctttg tcaaccgctt ccagaagtgg ttccagagca tggtacacat ctacccttgt
      781 gctttctatg gacgtggctt caccaagaac tcctggggcc ttctgcccta tagtcggcct
      841 gtaaccacca tcgtcgggga gcctctacca atgcccaaga ttgagaatcc aagccaggag
      901 atcgtggcta aatatcacac actctatatt gatgccctac gtaaactgtt tgaccagcat
      961 aagaccaagt ttggtatctc agagacccag gagctggaga taatttgaca gacatcccca
     1021 gtagccttca ccctggctgg aagctctttt ctgccctttc tttgcagcta ctggtgagat
     1081 agtcccaaga aacagggaag agcctagggg agaggtgccc tgacggcact ttggtgccag
     1141 cattgaggaa aacaatggac aaaataaaaa gcccatcttc tgataactgc gtgtgcacca
     1201 actactctgt tttgaaggct ctgggatgca tgtctctcct tctctagctg tcaaacagcc
     1261 ccatctcccg gcattgagcc ccatcttctg gcattgagtc ctgcttccta caggagtagg
     1321 actggggcct tgagagccag tgggctttga gtttaagctc caccaacttc aagccatgtg
     1381 actttggggc aatcagtcac ctctgagcct cctttcttct tctataaaat gagactaaca
     1441 atctgtctct tgcttacctc aaaggccgtt gggaagatca aacaatattg gatgtgattg
     1501 aactttataa actggagagc tacaccattt tcttctccaa ccattttacc catttcctgt
     1561 ccctgagcaa acaacgcccg aaataccctc tgctacccac tagccctcac tcagtttctg
     1621 cctcacaaag ctgtaacaga atgggttggg ctcaggccta attttctctg tcattccctc
     1681 agcaacttgc ctatacttgt gtggccctat aattctggcc tttgtttgag agtcagccag
     1741 cctgctcagg atgaaaatga ggcgcctggc ttttagcagc cataaagaac tctccttctg
     1801 aatggcaagt ctctcagact cttggtctaa tggctgttgc aatgacaggc tacaaaattt
     1861 ggctcacatc cctctcattc catccctctt gggtgggtgc catttggtcc agtgatttac
     1921 ctgcattacg ttggtcaatt tggtctacaa catcctgcgt gtttactgca gtgtgagctg
     1981 ctgcctctat cctgggtgcc tgcctcatgt gatgatttgt atacagtggc caaagacatg
     2041 cttctgcttt tctgctgtct ttgttacttc ttgtgccaga gattacgttt tccctgagct
     2101 tccataaagt gtttttaaac agtc
//
