LOCUS       NM_001013579            1397 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens acyl-CoA wax alcohol acyltransferase 1 (AWAT1), mRNA.
ACCESSION   NM_001013579 XM_088691
VERSION     NM_001013579.3
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 1397)
  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   2  (bases 1 to 1397)
  AUTHORS   Ross,M.T., Grafham,D.V., Coffey,A.J., Scherer,S., McLay,K.,
            Muzny,D., Platzer,M., Howell,G.R., Burrows,C., Bird,C.P.,
            Frankish,A., Lovell,F.L., Howe,K.L., Ashurst,J.L., Fulton,R.S.,
            Sudbrak,R., Wen,G., Jones,M.C., Hurles,M.E., Andrews,T.D.,
            Scott,C.E., Searle,S., Ramser,J., Whittaker,A., Deadman,R.,
            Carter,N.P., Hunt,S.E., Chen,R., Cree,A., Gunaratne,P., Havlak,P.,
            Hodgson,A., Metzker,M.L., Richards,S., Scott,G., Steffen,D.,
            Sodergren,E., Wheeler,D.A., Worley,K.C., Ainscough,R.,
            Ambrose,K.D., Ansari-Lari,M.A., Aradhya,S., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Ballabio,A., Banerjee,R., Barker,G.E.,
            Barlow,K.F., Barrett,I.P., Bates,K.N., Beare,D.M., Beasley,H.,
            Beasley,O., Beck,A., Bethel,G., Blechschmidt,K., Brady,N.,
            Bray-Allen,S., Bridgeman,A.M., Brown,A.J., Brown,M.J., Bonnin,D.,
            Bruford,E.A., Buhay,C., Burch,P., Burford,D., Burgess,J.,
            Burrill,W., Burton,J., Bye,J.M., Carder,C., Carrel,L., Chako,J.,
            Chapman,J.C., Chavez,D., Chen,E., Chen,G., Chen,Y., Chen,Z.,
            Chinault,C., Ciccodicola,A., Clark,S.Y., Clarke,G., Clee,C.M.,
            Clegg,S., Clerc-Blankenburg,K., Clifford,K., Cobley,V., Cole,C.G.,
            Conquer,J.S., Corby,N., Connor,R.E., David,R., Davies,J., Davis,C.,
            Davis,J., Delgado,O., Deshazo,D., Dhami,P., Ding,Y., Dinh,H.,
            Dodsworth,S., Draper,H., Dugan-Rocha,S., Dunham,A., Dunn,M.,
            Durbin,K.J., Dutta,I., Eades,T., Ellwood,M., Emery-Cohen,A.,
            Errington,H., Evans,K.L., Faulkner,L., Francis,F., Frankland,J.,
            Fraser,A.E., Galgoczy,P., Gilbert,J., Gill,R., Glockner,G.,
            Gregory,S.G., Gribble,S., Griffiths,C., Grocock,R., Gu,Y.,
            Gwilliam,R., Hamilton,C., Hart,E.A., Hawes,A., Heath,P.D.,
            Heitmann,K., Hennig,S., Hernandez,J., Hinzmann,B., Ho,S., Hoffs,M.,
            Howden,P.J., Huckle,E.J., Hume,J., Hunt,P.J., Hunt,A.R.,
            Isherwood,J., Jacob,L., Johnson,D., Jones,S., de Jong,P.J.,
            Joseph,S.S., Keenan,S., Kelly,S., Kershaw,J.K., Khan,Z.,
            Kioschis,P., Klages,S., Knights,A.J., Kosiura,A., Kovar-Smith,C.,
            Laird,G.K., Langford,C., Lawlor,S., Leversha,M., Lewis,L., Liu,W.,
            Lloyd,C., Lloyd,D.M., Loulseged,H., Loveland,J.E., Lovell,J.D.,
            Lozado,R., Lu,J., Lyne,R., Ma,J., Maheshwari,M., Matthews,L.H.,
            McDowall,J., McLaren,S., McMurray,A., Meidl,P., Meitinger,T.,
            Milne,S., Miner,G., Mistry,S.L., Morgan,M., Morris,S., Muller,I.,
            Mullikin,J.C., Nguyen,N., Nordsiek,G., Nyakatura,G., O'Dell,C.N.,
            Okwuonu,G., Palmer,S., Pandian,R., Parker,D., Parrish,J.,
            Pasternak,S., Patel,D., Pearce,A.V., Pearson,D.M., Pelan,S.E.,
            Perez,L., Porter,K.M., Ramsey,Y., Reichwald,K., Rhodes,S.,
            Ridler,K.A., Schlessinger,D., Schueler,M.G., Sehra,H.K.,
            Shaw-Smith,C., Shen,H., Sheridan,E.M., Shownkeen,R., Skuce,C.D.,
            Smith,M.L., Sotheran,E.C., Steingruber,H.E., Steward,C.A.,
            Storey,R., Swann,R.M., Swarbreck,D., Tabor,P.E., Taudien,S.,
            Taylor,T., Teague,B., Thomas,K., Thorpe,A., Timms,K., Tracey,A.,
            Trevanion,S., Tromans,A.C., d'Urso,M., Verduzco,D., Villasana,D.,
            Waldron,L., Wall,M., Wang,Q., Warren,J., Warry,G.L., Wei,X.,
            West,A., Whitehead,S.L., Whiteley,M.N., Wilkinson,J.E.,
            Willey,D.L., Williams,G., Williams,L., Williamson,A.,
            Williamson,H., Wilming,L., Woodmansey,R.L., Wray,P.W., Yen,J.,
            Zhang,J., Zhou,J., Zoghbi,H., Zorilla,S., Buck,D., Reinhardt,R.,
            Poustka,A., Rosenthal,A., Lehrach,H., Meindl,A., Minx,P.J.,
            Hillier,L.W., Willard,H.F., Wilson,R.K., Waterston,R.H., Rice,C.M.,
            Vaudin,M., Coulson,A., Nelson,D.L., Weinstock,G., Sulston,J.E.,
            Durbin,R., Hubbard,T., Gibbs,R.A., Beck,S., Rogers,J. and
            Bentley,D.R.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   3  (bases 1 to 1397)
  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 W68831.1, AY947638.1 and
            BC039181.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001013579.2.
            
            Summary: 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].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY947638.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2145893 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374521.4/ ENSP00000363645.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-353               W68831.1           1-353
            354-1028            AY947638.1         313-987
            1029-1397           BC039181.1         730-1098
FEATURES             Location/Qualifiers
     source          1..1397
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     gene            1..1397
                     /gene="AWAT1"
                     /gene_synonym="DGA2; DGAT2L3"
                     /note="acyl-CoA wax alcohol acyltransferase 1"
                     /db_xref="GeneID:158833"
                     /db_xref="HGNC:HGNC:23252"
                     /db_xref="MIM:300924"
     exon            1..117
                     /gene="AWAT1"
                     /gene_synonym="DGA2; DGAT2L3"
                     /inference="alignment:Splign:2.1.0"
     CDS             42..1028
                     /gene="AWAT1"
                     /gene_synonym="DGA2; DGAT2L3"
                     /EC_number="2.3.1.75"
                     /note="diacylglycerol O-acyltransferase 2-like 3;
                     long-chain-alcohol O-fatty-acyltransferase 1;
                     diacyl-glycerol acyltransferase 2; diacylglycerol
                     acyltransferase 2; diacylglycerol O-acyltransferase 2-like
                     protein 3"
                     /codon_start=1
                     /product="acyl-CoA wax alcohol acyltransferase 1"
                     /protein_id="NP_001013597.1"
                     /db_xref="CCDS:CCDS35321.1"
                     /db_xref="GeneID:158833"
                     /db_xref="HGNC:HGNC:23252"
                     /db_xref="MIM:300924"
                     /translation="MAHSKQPSHFQSLMLLQWPLSYLAIFWILQPLFVYLLFTSLWPL
                     PVLYFAWLFLDWKTPERGGRRSAWVRNWCVWTHIRDYFPITILKTKDLSPEHNYLMGV
                     HPHGLLTFGAFCNFCTEATGFSKTFPGITPHLATLSWFFKIPFVREYLMAKGVCSVSQ
                     PAINYLLSHGTGNLVGIVVGGVGEALQSVPNTTTLILQKRKGFVRTALQHGAHLVPTF
                     TFGETEVYDQVLFHKDSRMYKFQSCFRRIFGFYCCVFYGQSFCQGSTGLLPYSRPIVT
                     VVGEPLPLPQIEKPSQEMVDKYHALYMDALHKLFDQHKTHYGCSETQKLFFL"
     exon            118..225
                     /gene="AWAT1"
                     /gene_synonym="DGA2; DGAT2L3"
                     /inference="alignment:Splign:2.1.0"
     exon            226..296
                     /gene="AWAT1"
                     /gene_synonym="DGA2; DGAT2L3"
                     /inference="alignment:Splign:2.1.0"
     exon            297..501
                     /gene="AWAT1"
                     /gene_synonym="DGA2; DGAT2L3"
                     /inference="alignment:Splign:2.1.0"
     exon            502..673
                     /gene="AWAT1"
                     /gene_synonym="DGA2; DGAT2L3"
                     /inference="alignment:Splign:2.1.0"
     exon            674..873
                     /gene="AWAT1"
                     /gene_synonym="DGA2; DGAT2L3"
                     /inference="alignment:Splign:2.1.0"
     exon            874..1397
                     /gene="AWAT1"
                     /gene_synonym="DGA2; DGAT2L3"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 actgttctga gatctttgcc tccctcaggc tcccgagaat catggctcat tccaagcagc
       61 ctagtcactt ccagagtctg atgcttctgc agtggccttt gagctacctt gccatctttt
      121 ggatcttgca gccattgttc gtctacctgc tgtttacatc cttgtggccg ctaccagtgc
      181 tttactttgc ctggttgttc ctggactgga agaccccaga gcgaggtggc aggcgttcgg
      241 cctgggtaag gaactggtgt gtctggaccc acatcaggga ctatttcccc attacgatcc
      301 tgaagacaaa ggacctatca cctgagcaca actacctcat gggggttcac ccccatggcc
      361 tcctgacctt tggcgccttc tgcaacttct gcactgaggc cacaggcttc tcgaagacct
      421 tcccaggcat cactcctcac ttggccacgc tgtcctggtt cttcaagatc ccctttgtta
      481 gggagtacct catggccaaa ggtgtgtgct ctgtgagcca gccagccatc aactatctgc
      541 tgagccatgg cactggcaac ctcgtgggca ttgtagtggg aggtgtgggt gaggccctgc
      601 aaagtgtgcc caacaccacc accctcatcc tccagaagcg caaggggttc gtgcgcacag
      661 ccctccagca tggggctcat ctggtcccca ccttcacttt tggggaaact gaggtgtatg
      721 atcaggtgct gttccataag gatagcagga tgtacaagtt ccagagctgc ttccgccgta
      781 tctttggttt ctactgttgt gtcttctatg gacaaagctt ctgtcaaggc tccactgggc
      841 tcctgccata ctccaggcct attgtcactg tggttgggga gcctctgcca ctgccccaaa
      901 ttgaaaagcc aagccaggag atggtggaca aataccatgc actttatatg gatgctctgc
      961 acaaactgtt cgaccagcat aagacccact atggctgctc agagacccaa aagctgtttt
     1021 tcctgtgaat gaaggtactg catgcccagg agcacaggag tgcctgcctt gaagaagaga
     1081 ctcatctgcc actaaccaaa gacaggcagg agatgaggga ggttatatgt ggtaggggag
     1141 ggcatgagga attccttctt tgccttcttg ccacagggtc cttacaggaa ttctttctga
     1201 agagctgcac acagtcattc ctcaaaggag ggcatcctag tgcccctcat gctggggcct
     1261 gatgcctggt catcatttga gtcctctggg acacattagc agtcactgca tattccccca
     1321 gcccctgggc aactatctac tttctgtctc tgtggatttg ccaattctga acattttata
     1381 taaatggaat aatacaa
//
