LOCUS       NM_001080480            4325 bp    mRNA    linear   PRI 02-FEB-2025
DEFINITION  Homo sapiens membrane bound glycerophospholipid O-acyltransferase 1
            (MBOAT1), transcript variant 1, mRNA.
ACCESSION   NM_001080480 NM_175879 XM_371801
VERSION     NM_001080480.3
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 4325)
  AUTHORS   Wan,Y.Y., Guo,L., Yao,Y., Shi,X.Y., Jiang,H., Xu,B., Hua,J. and
            Zhang,X.S.
  TITLE     MBOAT1 homozygous missense variant causes nonobstructive
            azoospermia
  JOURNAL   Asian J Androl 24 (2), 186-190 (2022)
   PUBMED   34596601
  REMARK    GeneRIF: MBOAT1 homozygous missense variant causes nonobstructive
            azoospermia.
REFERENCE   2  (bases 1 to 4325)
  AUTHORS   Broer,L., Buchman,A.S., Deelen,J., Evans,D.S., Faul,J.D.,
            Lunetta,K.L., Sebastiani,P., Smith,J.A., Smith,A.V., Tanaka,T.,
            Yu,L., Arnold,A.M., Aspelund,T., Benjamin,E.J., De Jager,P.L.,
            Eirkisdottir,G., Evans,D.A., Garcia,M.E., Hofman,A., Kaplan,R.C.,
            Kardia,S.L., Kiel,D.P., Oostra,B.A., Orwoll,E.S., Parimi,N.,
            Psaty,B.M., Rivadeneira,F., Rotter,J.I., Seshadri,S., Singleton,A.,
            Tiemeier,H., Uitterlinden,A.G., Zhao,W., Bandinelli,S.,
            Bennett,D.A., Ferrucci,L., Gudnason,V., Harris,T.B., Karasik,D.,
            Launer,L.J., Perls,T.T., Slagboom,P.E., Tranah,G.J., Weir,D.R.,
            Newman,A.B., van Duijn,C.M. and Murabito,J.M.
  TITLE     GWAS of longevity in CHARGE consortium confirms APOE and FOXO3
            candidacy
  JOURNAL   J Gerontol A Biol Sci Med Sci 70 (1), 110-118 (2015)
   PUBMED   25199915
REFERENCE   3  (bases 1 to 4325)
  AUTHORS   Mick,E., McGough,J., Deutsch,C.K., Frazier,J.A., Kennedy,D. and
            Goldberg,R.J.
  TITLE     Genome-wide association study of proneness to anger
  JOURNAL   PLoS One 9 (1), e87257 (2014)
   PUBMED   24489884
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4325)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   5  (bases 1 to 4325)
  AUTHORS   Shindou,H. and Shimizu,T.
  TITLE     Acyl-CoA:lysophospholipid acyltransferases
  JOURNAL   J Biol Chem 284 (1), 1-5 (2009)
   PUBMED   18718904
  REMARK    Review article
REFERENCE   6  (bases 1 to 4325)
  AUTHORS   Gijon,M.A., Riekhof,W.R., Zarini,S., Murphy,R.C. and Voelker,D.R.
  TITLE     Lysophospholipid acyltransferases and arachidonate recycling in
            human neutrophils
  JOURNAL   J Biol Chem 283 (44), 30235-30245 (2008)
   PUBMED   18772128
REFERENCE   7  (bases 1 to 4325)
  AUTHORS   Hishikawa,D., Shindou,H., Kobayashi,S., Nakanishi,H., Taguchi,R.
            and Shimizu,T.
  TITLE     Discovery of a lysophospholipid acyltransferase family essential
            for membrane asymmetry and diversity
  JOURNAL   Proc Natl Acad Sci U S A 105 (8), 2830-2835 (2008)
   PUBMED   18287005
REFERENCE   8  (bases 1 to 4325)
  AUTHORS   Tamaki,H., Shimada,A., Ito,Y., Ohya,M., Takase,J., Miyashita,M.,
            Miyagawa,H., Nozaki,H., Nakayama,R. and Kumagai,H.
  TITLE     LPT1 encodes a membrane-bound O-acyltransferase involved in the
            acylation of lysophospholipids in the yeast Saccharomyces
            cerevisiae
  JOURNAL   J Biol Chem 282 (47), 34288-34298 (2007)
   PUBMED   17890783
REFERENCE   9  (bases 1 to 4325)
  AUTHORS   Dauwerse,J.G., de Vries,B.B., Wouters,C.H., Bakker,E., Rappold,G.,
            Mortier,G.R., Breuning,M.H. and Peters,D.J.
  TITLE     A t(4;6)(q12;p23) translocation disrupts a membrane-associated
            O-acetyl transferase gene (MBOAT1) in a patient with a novel
            brachydactyly-syndactyly syndrome
  JOURNAL   Eur J Hum Genet 15 (7), 743-751 (2007)
   PUBMED   17440500
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL158198.14, AK296857.1,
            BC150650.1, AL008627.1 and BM978819.1.
            
            On May 17, 2019 this sequence version replaced NM_001080480.2.
            
            Summary: This gene belongs to the membrane-bound
            O-acetyltransferase superfamily. The encoded transmembrane protein
            is an enzyme that transfers organic compounds, preferably from
            oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A
            translocation disrupting this gene may be associated with
            brachydactyly syndactyly syndrome. Alternately spliced transcript
            variants have been described for this gene. [provided by RefSeq,
            Nov 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the supported protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC045695.1, AK131269.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000324607.8/ ENSP00000324944.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 AL158198.14        80255-80259         c
            6-59                AK296857.1         1-54
            60-1889             BC150650.1         1-1830
            1890-4055           AL008627.1         18330-20495
            4056-4325           BM978819.1         15-284              c
FEATURES             Location/Qualifiers
     source          1..4325
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p22.3"
     gene            1..4325
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
                     /note="membrane bound glycerophospholipid
                     O-acyltransferase 1"
                     /db_xref="GeneID:154141"
                     /db_xref="HGNC:HGNC:21579"
                     /db_xref="MIM:611732"
     exon            1..334
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             236..1723
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
                     /EC_number="2.3.1.23"
                     /EC_number="2.3.1.n6"
                     /EC_number="2.3.1.n7"
                     /note="lysophosphatidylethanolamine acyltransferase 1;
                     membrane bound O-acyltransferase domain containing 1;
                     lyso-PS acyltransferase; lysophosphatidylserine
                     acyltransferase; 1-acylglycerophosphoserine
                     O-acyltransferase; membrane-bound O-acyltransferase
                     domain-containing protein 1; O-acyltransferase (membrane
                     bound) domain containing 1; 1-acylglycerophosphocholine
                     O-acyltransferase; 1-acylglycerophosphoethanolamine
                     O-acyltransferase; 1-acylglycerophosphoserine
                     O-acyltransferase MBOAT1; lysophospholipid acyltransferase
                     14"
                     /codon_start=1
                     /product="lysophospholipid acyltransferase 1"
                     /protein_id="NP_001073949.1"
                     /db_xref="CCDS:CCDS34346.1"
                     /db_xref="GeneID:154141"
                     /db_xref="HGNC:HGNC:21579"
                     /db_xref="MIM:611732"
                     /translation="MAAEPQPSSLSYRTTGSTYLHPLSELLGIPLDQVNFVVCQLVAL
                     FAAFWFRIYLRPGTTSSDVRHAVATIFGIYFVIFCFGWYSVHLFVLVLMCYAIMVTAS
                     VSNIHRYSFFVAMGYLTICHISRIYIFHYGILTTDFSGPLMIVTQKITTLAFQVHDGL
                     GRRAEDLSAEQHRLAIKVKPSFLEYLSYLLNFMSVIAGPCNNFKDYIAFIEGKHIHMK
                     LLEVNWKRKGFHSLPEPSPTGAVIHKLGITLVSLLLFLTLTKTFPVTCLVDDWFVHKA
                     SFPARLCYLYVVMQASKPKYYFAWTLADAVNNAAGFGFSGVDKNGNFCWDLLSNLNIW
                     KIETATSFKMYLENWNIQTATWLKCVCYQRVPWYPTVLTFILSALWHGVYPGYYFTFL
                     TGILVTLAARAVRNNYRHYFLSSRALKAVYDAGTWAVTQLAVSYTVAPFVMLAVEPTI
                     SLYKSMYFYLHIISLLIILFLPMKPQAHTQRRPQTLNSINKRKTD"
     exon            335..480
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
                     /inference="alignment:Splign:2.1.0"
     exon            481..558
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
                     /inference="alignment:Splign:2.1.0"
     exon            559..654
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
                     /inference="alignment:Splign:2.1.0"
     exon            655..710
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
                     /inference="alignment:Splign:2.1.0"
     exon            711..765
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
                     /inference="alignment:Splign:2.1.0"
     exon            766..949
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
                     /inference="alignment:Splign:2.1.0"
     exon            950..1142
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..1246
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1247..1311
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1312..1444
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1445..1596
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
                     /inference="alignment:Splign:2.1.0"
     exon            1597..4325
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3180..3185
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
                     /note="hexamer: AATAAA"
     polyA_site      3212
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
                     /note="major polyA site"
     regulatory      3275..3280
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
                     /note="hexamer: AATAAA"
     polyA_site      3300
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
     regulatory      4283..4288
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
                     /note="hexamer: AATACA"
     polyA_site      4325
                     /gene="MBOAT1"
                     /gene_synonym="dJ434O11.1; LPEAT1; LPLAT; LPLAT 1;
                     LPLAT14; LPSAT; OACT1"
ORIGIN      
        1 ccctcctacg gcgcccgtgg ctgcagcgcc agcgccaaag ccaagtttgc gcctcgagag
       61 tttgcgcctc gagagtttgc gccggttcgc attccccggc ctcccgttcg ctcccccgcg
      121 aaccaggcgg ccgtgcgcct ctcggggcaa ccacccaaga gcacccgggc gggaggacgc
      181 cgagcagggg gtgttgcggg ctgggacagg ggcagccacc tcccgaagat gcaggatggc
      241 agcagagccg cagccgtcca gcctttccta ccgcaccacg ggctccacct acctgcaccc
      301 gctcagcgag ctcctgggca tcccgctgga ccaggtgaat tttgtggtat gccagcttgt
      361 tgctctgttt gctgctttct ggtttcgcat ctacttacgt cctggtacaa ccagctctga
      421 tgtccggcat gcggttgcca ccatttttgg catctatttt gtcatctttt gtttcggctg
      481 gtactctgtg catctttttg tgctggtgtt aatgtgctat gcaatcatgg tcactgctag
      541 tgtatccaat attcacagat attccttttt tgtagcaatg ggatatctta caatatgcca
      601 catcagccga atatacatct tccactatgg aattctcact acggattttt ctgggcctct
      661 gatgattgtc actcagaaga tcacaacctt ggcattccag gttcatgatg gattaggtcg
      721 aagagctgaa gacctttctg ctgaacaaca tcgacttgct atcaaagtga aaccctcttt
      781 tttggaatac ttaagttacc ttctcaattt catgagtgtc atagctggtc cttgtaacaa
      841 tttcaaggac tacatagcct tcattgaggg gaagcatata cacatgaagt tgctggaggt
      901 gaactggaag cgaaaaggtt tccacagctt gccagaacct tctcccacag gagctgtgat
      961 acacaagttg ggcatcacct tggtgtctct ccttttgttt ttgacgctaa cgaagacctt
     1021 tcctgtcacc tgccttgtgg atgactggtt tgtccataaa gcaagctttc cggctcgact
     1081 ctgctactta tatgttgtca tgcaagcctc aaagcccaag tattactttg catggacatt
     1141 agctgatgca gtgaataacg cagctggctt tgggttcagc ggagtggata agaatgggaa
     1201 tttctgttgg gatctgcttt cgaacctaaa catctggaaa attgagactg ccacaagttt
     1261 caaaatgtac ttggaaaact ggaatattca gacagctact tggctaaagt gtgtgtgcta
     1321 tcagcgggtt ccatggtacc ccacggtgct aaccttcatc ctgtctgctt tgtggcatgg
     1381 tgtctaccct ggatactatt ttaccttctt aactggaatt cttgtcacat tagcagctag
     1441 agcggtcagg aacaactaca gacattactt cctttcttca agagctctca aggctgtgta
     1501 tgatgcaggc acctgggccg tcactcagct ggctgtctct tacacggtag caccctttgt
     1561 gatgttggca gttgaaccga ccatcagctt atacaagtcc atgtactttt atttgcacat
     1621 cataagtctc ctgataatac tatttctgcc aatgaaacca caagctcata cgcaaaggcg
     1681 gcctcagact ctgaactcta ttaataagag aaaaacagat tgatacctcc aagagaagcg
     1741 gaacaagcaa aactgcagaa cgttcgaaag atgagatgac aaggcttcaa gggctcctcc
     1801 ggtggcttag aggcgatgtt tacatgcatc tttattttgt tcttttttaa agtgcaggga
     1861 gtattttttt tttttttttt tttttttttt ttttgagacg gagtctcgct ctgtcgccca
     1921 ggctggagtg cagtggcggg atctcggctc actgcaagct ccgcctcccg ggttcacgcc
     1981 attctcctgc ctcagcctcc caagtagctg ggactacagg cgcccgccac tacgcccggc
     2041 taattttttg tatttttagt agagacgggg tttcaccgtt ttagccggga tggtctcgat
     2101 ctcctgacct cgtgatccgc ccgcctcggc ctcccaaagt gctgggatta caggcgtgag
     2161 ccaccgcgcc cggccgggag tatttttata aagccttttt gtacagatta atcggccatg
     2221 tccaggttat tggttttgat attttatagg acatttgagt ggtgtggcga tgtgtagaga
     2281 atgtgccaga gctgcagaga cagtccattc tgggctgctg gctttttgcc cttcctgcat
     2341 gatttccagc tactgtgacc tggatgctgg gaacccaggc atcggctcca aaaattagaa
     2401 ggcgagtgct gagaagactt gtcacaggtt tctcaaatca gaatatactc agtcatagtg
     2461 gttccctggg aagccccaga ccctttgact tgtgacatta ctggtttgca gacataataa
     2521 ctacactcag aggaccatgg aggcagaggg atcatggttt cagggcactg aaaactctac
     2581 gagccaagag gactagtgca tggactgaaa gtcaggcatg ccctcaaata ggctgtattt
     2641 tctttccagg aatgtaacct ttcccctttt tcttctgacc tgagccaaga ttggaaatca
     2701 gaaagtctcc tgtacatgga gctgaagagg ggctgctgtt ttccgaatgt tttccatttc
     2761 acaggcgcca cctgcttgcc cggggttggt cttgagaaga cacccaaatg ttcatgcctc
     2821 agaaaggcag cagaatgcct tttaggaaat ttttttaaag taatttgaag ttatatagaa
     2881 gtttggtaag aagaagcagt tgtttctctc ttttctccct catttcatgg aggtgttaat
     2941 gatcatggct ggccgtgatg tacacatggg ctgattttca ttttttcagt ttcatagctg
     3001 agaaattcag ctttgtttta gttgaatcat catattggaa agcagacatt gaaagttttc
     3061 ttttctatct ttgttatgaa tgtgctatgg ccccttttgg agacttctat tgggtaatat
     3121 tctatgtgag agaaggaaac ttggtattaa atgttgtgga aaataataat gatgataata
     3181 ataaagtata tgctgcaatg gtgtactgcc aatcagattg cttgggagaa gaaaatttat
     3241 tcaaatccaa cgataaaaaa ttaatttctt attgaataaa cagtatgttc ccatataaaa
     3301 gaaatgtttc tgatgggaat aattgctttt tgtctgtgtc aatagagaca caggtccata
     3361 aggtgtccta ctgctgcttc tcttaggata gtgaaatgtg aatgtgatgt gcctgttcct
     3421 ctacagcatg taaacagtcc tggtgctggg ggagagtact agaacccaaa ctttagtcct
     3481 tatttgggac agtggaagtt aagaagtagt agatgtgagc tagtgcatga gtctcacccc
     3541 actttaacaa ggaaatcttg gggcaaccct acttcgctgt cccaggaaga atcttagata
     3601 gtgggtaggg gaagggggtt gtaggtatct aaaatctgtc agagtttgtc tccaccaaga
     3661 atagtttgag gtacgagacc aagaaaaatg tacatcttgc aaactagcaa aaatggtaaa
     3721 tattaccatt ggtgtggagt atgtggaata atcatattac agtgaagtct ttgaatttac
     3781 aatgtgattg atgatcaggt ttcactgtat gtaatgtaag tatcctcatg tctgaaagaa
     3841 gaacttggta atgagagcag aggtgtctgc tttggtgacc agctgccctg gtttgccaag
     3901 gactctctca agccctcagt cctgggcaag ctggggccat tggtcccact agtgactgcc
     3961 cagaattgat tactccttat gggatgagga gaagtcaaac ctctaggagt tgagcttatg
     4021 gatgctatat gtcagacttg gtgttaggcc ctgggacaca aacatgaggc tttattctgt
     4081 ataaaaagaa caacacatag gagactgatt agcatccttt ttcttctgaa aaccacttac
     4141 ccatagaaaa agatttcaac tgaggaccaa catttagacg gaaggttggg actgttttta
     4201 ttaccttaga tttccaagtt gtcctaaata taagatgcag ttcataaata cttattggaa
     4261 tgtgagcttt cagttgaaaa taaatacact ttctggtttt gtttttgaaa aagccaaatc
     4321 taaaa
//
