LOCUS       NM_003560               3299 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens phospholipase A2 group VI (PLA2G6), transcript variant
            1, mRNA.
ACCESSION   NM_003560
VERSION     NM_003560.4
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 3299)
  AUTHORS   Kurtovic-Kozaric,A., Singer-Berk,M., Wood,J., Evangelista,E.,
            Panwala,L., Hope,A., Heinrich,S.M., Baxter,S. and Kiel,M.J.
  TITLE     An estimation of global genetic prevalence of PLA2G6-associated
            neurodegeneration
  JOURNAL   Orphanet J Rare Dis 19 (1), 388 (2024)
   PUBMED   39425167
  REMARK    GeneRIF: An estimation of global genetic prevalence of
            PLA2G6-associated neurodegeneration.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3299)
  AUTHORS   Wu,R., Li,X., Meng,Z., Li,P., He,Z. and Liang,L.
  TITLE     Phenotypic and genetic analysis of children with unexplained
            neurodevelopmental delay and neurodevelopmental comorbidities in a
            Chinese cohort using trio-based whole-exome sequencing
  JOURNAL   Orphanet J Rare Dis 19 (1), 205 (2024)
   PUBMED   38764027
  REMARK    GeneRIF: Phenotypic and genetic analysis of children with
            unexplained neurodevelopmental delay and neurodevelopmental
            comorbidities in a Chinese cohort using trio-based whole-exome
            sequencing.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3299)
  AUTHORS   Ikari,N., Honjo,K., Sagami,Y., Nakamura,Y. and Arakawa,H.
  TITLE     Mieap forms membrane-less organelles involved in cardiolipin
            metabolism
  JOURNAL   iScience 27 (2), 108916 (2024)
   PUBMED   38322995
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3299)
  AUTHORS   Morgan,N.V., Westaway,S.K., Morton,J.E., Gregory,A., Gissen,P.,
            Sonek,S., Cangul,H., Coryell,J., Canham,N., Nardocci,N., Zorzi,G.,
            Pasha,S., Rodriguez,D., Desguerre,I., Mubaidin,A., Bertini,E.,
            Trembath,R.C., Simonati,A., Schanen,C., Johnson,C.A., Levinson,B.,
            Woods,C.G., Wilmot,B., Kramer,P., Gitschier,J., Maher,E.R. and
            Hayflick,S.J.
  TITLE     PLA2G6, encoding a phospholipase A2, is mutated in
            neurodegenerative disorders with high brain iron
  JOURNAL   Nat Genet 38 (7), 752-754 (2006)
   PUBMED   16783378
  REMARK    GeneRIF: mapped a locus for infantile neuroaxonal dystrophy (INAD)
            and neurodegeneration with brain iron accumulation (NBIA) to
            chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a
            group VI phospholipase A2, in NBIA, INAD and Karak syndrome
            Erratum:[Nat Genet. 2006 Aug;38(8):957]
REFERENCE   5  (bases 1 to 3299)
  AUTHORS   Ma,Z., Wang,X., Nowatzke,W., Ramanadham,S. and Turk,J.
  TITLE     Human pancreatic islets express mRNA species encoding two distinct
            catalytically active isoforms of group VI phospholipase A2 (iPLA2)
            that arise from an exon-skipping mechanism of alternative splicing
            of the transcript from the iPLA2 gene on chromosome 22q13.1
  JOURNAL   J Biol Chem 274 (14), 9607-9616 (1999)
   PUBMED   10092647
REFERENCE   6  (bases 1 to 3299)
  AUTHORS   Larsson,P.K., Claesson,H.E. and Kennedy,B.P.
  TITLE     Multiple splice variants of the human calcium-independent
            phospholipase A2 and their effect on enzyme activity
  JOURNAL   J Biol Chem 273 (1), 207-214 (1998)
   PUBMED   9417066
REFERENCE   7  (bases 1 to 3299)
  AUTHORS   Tang,J., Kriz,R.W., Wolfman,N., Shaffer,M., Seehra,J. and
            Jones,S.S.
  TITLE     A novel cytosolic calcium-independent phospholipase A2 contains
            eight ankyrin motifs
  JOURNAL   J Biol Chem 272 (13), 8567-8575 (1997)
   PUBMED   9079687
REFERENCE   8  (bases 1 to 3299)
  AUTHORS   Gregory,A. and Hayflick,S.
  TITLE     Neurodegeneration with Brain Iron Accumulation Disorders Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23447832
REFERENCE   9  (bases 1 to 3299)
  AUTHORS   Gregory,A., Kurian,M.A., Maher,E.R., Hogarth,P. and Hayflick,S.J.
  TITLE     PLA2G6-Associated Neurodegeneration
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301718
REFERENCE   10 (bases 1 to 3299)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC376896.1, AF064594.1,
            BC051904.1 and BC036742.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_003560.3.
            
            Summary: The protein encoded by this gene is an A2 phospholipase, a
            class of enzyme that catalyzes the release of fatty acids from
            phospholipids. The encoded protein may play a role in phospholipid
            remodelling, arachidonic acid release, leukotriene and
            prostaglandin synthesis, fas-mediated apoptosis, and transmembrane
            ion flux in glucose-stimulated B-cells. Several transcript variants
            encoding multiple isoforms have been described, but the full-length
            nature of only three of them have been determined to date.
            [provided by RefSeq, Dec 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a). Both variants 1 and
            4 encode the same protein (isoform a). Isoform a is membrane-bound
            while isoform b is found in the cytoplasm.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL080187.1, BC036742.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332509.8/ ENSP00000333142.3
            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
            1-76                DC376896.1         1-76
            77-167              AF064594.1         3-93
            168-298             BC051904.1         28-158
            299-2815            BC036742.1         217-2733
            2816-3292           BC051904.1         2514-2990
            3293-3299           AF064594.1         3218-3224
FEATURES             Location/Qualifiers
     source          1..3299
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     gene            1..3299
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /note="phospholipase A2 group VI"
                     /db_xref="GeneID:8398"
                     /db_xref="HGNC:HGNC:9039"
                     /db_xref="MIM:603604"
     exon            1..167
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /inference="alignment:Splign:2.1.0"
     exon            168..421
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /inference="alignment:Splign:2.1.0"
     CDS             213..2633
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /EC_number="3.1.1.5"
                     /EC_number="3.1.1.4"
                     /EC_number="3.1.2.2"
                     /note="isoform a is encoded by transcript variant 1; 85
                     kDa calcium-independent phospholipase A2; GVI PLA2;
                     iPLA2-beta; patatin-like phospholipase domain-containing
                     protein 9; palmitoyl-CoA hydrolase; intracellular
                     membrane-associated calcium-independent phospholipase A2
                     beta; 85/88 kDa calcium-independent phospholipase A2;
                     neurodegeneration with brain iron accumulation 2;
                     phospholipase A2, group VI (cytosolic,
                     calcium-independent); 2-lysophosphatidylcholine
                     acylhydrolase"
                     /codon_start=1
                     /product="85/88 kDa calcium-independent phospholipase A2
                     isoform a"
                     /protein_id="NP_003551.2"
                     /db_xref="CCDS:CCDS13967.1"
                     /db_xref="GeneID:8398"
                     /db_xref="HGNC:HGNC:9039"
                     /db_xref="MIM:603604"
                     /translation="MQFFGRLVNTFSGVTNLFSNPFRVKEVAVADYTSSDRVREEGQL
                     ILFQNTPNRTWDCVLVNPRNSQSGFRLFQLELEADALVNFHQYSSQLLPFYESSPQVL
                     HTEVLQHLTDLIRNHPSWSVAHLAVELGIRECFHHSRIISCANCAENEEGCTPLHLAC
                     RKGDGEILVELVQYCHTQMDVTDYKGETVFHYAVQGDNSQVLQLLGRNAVAGLNQVNN
                     QGLTPLHLACQLGKQEMVRVLLLCNARCNIMGPNGYPIHSAMKFSQKGCAEMIISMDS
                     SQIHSKDPRYGASPLHWAKNAEMARMLLKRGCNVNSTSSAGNTALHVAVMRNRFDCAI
                     VLLTHGANADARGEHGNTPLHLAMSKDNVEMIKALIVFGAEVDTPNDFGETPTFLASK
                     IGRLVTRKAILTLLRTVGAEYCFPPIHGVPAEQGSAAPHHPFSLERAQPPPISLNNLE
                     LQDLMHISRARKPAFILGSMRDEKRTHDHLLCLDGGGVKGLIIIQLLIAIEKASGVAT
                     KDLFDWVAGTSTGGILALAILHSKSMAYMRGMYFRMKDEVFRGSRPYESGPLEEFLKR
                     EFGEHTKMTDVRKPKVMLTGTLSDRQPAELHLFRNYDAPETVREPRFNQNVNLRPPAQ
                     PSDQLVWRAARSSGAAPTYFRPNGRFLDGGLLANNPTLDAMTEIHEYNQDLIRKGQAN
                     KVKKLSIVVSLGTGRSPQVPVTCVDVFRPSNPWELAKTVFGAKELGKMVVDCCTDPDG
                     RAVDRARAWCEMVGIQYFRLNPQLGTDIMLDEVSDTVLVNALWETEVYIYEHREEFQK
                     LIQLLLSP"
     exon            422..637
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /inference="alignment:Splign:2.1.0"
     exon            638..821
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /inference="alignment:Splign:2.1.0"
     exon            822..1009
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /inference="alignment:Splign:2.1.0"
     exon            1010..1106
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /inference="alignment:Splign:2.1.0"
     exon            1107..1289
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /inference="alignment:Splign:2.1.0"
     exon            1290..1398
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /inference="alignment:Splign:2.1.0"
     exon            1399..1560
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /inference="alignment:Splign:2.1.0"
     exon            1561..1639
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /inference="alignment:Splign:2.1.0"
     exon            1640..1803
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /inference="alignment:Splign:2.1.0"
     exon            1804..1954
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /inference="alignment:Splign:2.1.0"
     exon            1955..2091
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /inference="alignment:Splign:2.1.0"
     exon            2092..2246
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /inference="alignment:Splign:2.1.0"
     exon            2247..2414
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /inference="alignment:Splign:2.1.0"
     exon            2415..2488
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /inference="alignment:Splign:2.1.0"
     exon            2489..3299
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3275..3280
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /note="hexamer: AATAAA"
     polyA_site      3299
                     /gene="PLA2G6"
                     /gene_synonym="CaI-PLA2; GVI; INAD1; iPLA2; IPLA2-VIA;
                     iPLA2beta; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9"
                     /note="major polyA site"
ORIGIN      
        1 gtttgtttgc ggaagtagga ggaagtagaa gtgctgagta agccgaggtg agtgacctcg
       61 cgggtgggcg gggcctgggg gtccgttccc caacttcctc ggcgctccgg actcccaagt
      121 ctccgccgga ccctcctttg gatattcctc gtgtctccga ttctgagaca gagggggaag
      181 acggtggggc ctccccacct gccccgcaga agatgcagtt ctttggccgc ctggtcaata
      241 ccttcagtgg cgtcaccaac ttgttctcta acccattccg ggtgaaggag gtggctgtgg
      301 ccgactacac ctcgagtgac cgagttcggg aggaagggca gctgattctg ttccagaaca
      361 ctcccaaccg cacctgggac tgcgtcctgg tcaaccccag gaactcacag agtggattcc
      421 gactcttcca gctggagttg gaggctgacg ccctagtgaa tttccatcag tattcttccc
      481 agctgctacc cttctatgag agctcccctc aggtcctgca cactgaggtc ctgcagcacc
      541 tgaccgacct catccgtaac caccccagct ggtcagtggc ccacctggct gtggagctag
      601 ggatccgcga gtgcttccat cacagccgta tcatcagctg tgccaattgc gcggagaacg
      661 aggagggctg cacacccctg cacctggcct gccgcaaggg tgatggggag atcctggtgg
      721 agctggtgca gtactgccac actcagatgg atgtcaccga ctacaaggga gagaccgtct
      781 tccattatgc tgtccagggt gacaattctc aggtgctgca gctccttgga aggaacgcag
      841 tggctggcct gaaccaggtg aataaccaag ggctgacccc gctgcacctg gcctgccagc
      901 tggggaagca ggagatggtc cgcgtgctgc tgctgtgcaa tgctcggtgc aacatcatgg
      961 gccccaacgg ctaccccatc cactcggcca tgaagttctc tcagaagggg tgtgcggaga
     1021 tgatcatcag catggacagc agccagatcc acagcaaaga cccccgttac ggagccagcc
     1081 ccctccactg ggccaagaac gcagagatgg cccgcatgct gctgaaacgg ggctgcaacg
     1141 tgaacagcac cagctccgcg gggaacacgg ccctgcacgt ggcggtgatg cgcaaccgct
     1201 tcgactgtgc catagtgctg ctgacccacg gggccaacgc ggatgcccgc ggagagcacg
     1261 gcaacacccc gctgcacctg gccatgtcga aagacaacgt ggagatgatc aaggccctca
     1321 tcgtgttcgg agcagaagtg gacaccccga atgactttgg ggagactcct acattcctag
     1381 cctccaaaat cggcagactt gtcaccagga aggcgatctt gactctgctg agaaccgtgg
     1441 gggccgaata ctgcttccca cccatccacg gggtccccgc ggagcagggc tctgcagcgc
     1501 cacatcatcc cttctccctg gaaagagctc agcccccacc gatcagccta aacaacctag
     1561 aactacagga tctcatgcac atctcacggg cccggaagcc agcgttcatc ctgggctcca
     1621 tgagggacga gaagcggacc cacgaccacc tgctgtgcct ggatggagga ggagtgaaag
     1681 gcctcatcat catccagctc ctcatcgcca tcgagaaggc ctcgggtgtg gccaccaagg
     1741 acctgtttga ctgggtggcg ggcaccagca ctggaggcat cctggccctg gccattctgc
     1801 acagtaagtc catggcctac atgcgcggca tgtactttcg catgaaggat gaggtgttcc
     1861 ggggctccag gccctacgag tcggggcccc tggaggagtt cctgaagcgg gagtttgggg
     1921 agcacaccaa gatgacggac gtcaggaaac ccaaggtgat gctgacaggg acactgtctg
     1981 accggcagcc ggctgaactc cacctcttcc ggaactacga tgctccagaa actgtccggg
     2041 agcctcgttt caaccagaac gttaacctca ggcctccagc tcagccctca gaccagctgg
     2101 tgtggcgggc ggcccgaagc agcggggcag ctcctactta cttccgaccc aatgggcgct
     2161 tcctggacgg tgggctgctg gccaacaacc ccacgctgga tgccatgacc gagatccatg
     2221 agtacaatca ggacctgatc cgcaagggtc aggccaacaa ggtgaagaaa ctctccatcg
     2281 ttgtctccct ggggacaggg aggtccccac aagtgcctgt gacctgtgtg gatgtcttcc
     2341 gtcccagcaa cccctgggag ctggccaaga ctgtttttgg ggccaaggaa ctgggcaaga
     2401 tggtggtgga ctgttgcacg gatccagacg ggcgggctgt ggaccgggca cgggcctggt
     2461 gcgagatggt cggcatccag tacttcagat tgaaccccca gctggggacg gacatcatgc
     2521 tggatgaggt cagtgacaca gtgctggtca acgccctctg ggagaccgag gtctacatct
     2581 atgagcaccg cgaggagttc cagaagctca tccagctgct gctctcaccc tgagggtccc
     2641 cagcctctca ccggccccag ctgacctcgt ccattcagcc cctgccaggc caagcccagc
     2701 cactgccctc ccgggcagat ctgggcccag gcacctctga gtccatagac caggcctggg
     2761 agaatgccaa gctgcctgcc cgaggctggt cctgaaggcc tgtctcccac taaccccgcc
     2821 ttccagcact ttctgtcatt ccaggctggg aaagtctaga gccccctttg gcccctttcc
     2881 ctgactgtca aggacaactg actcccccat cagctcaaac attaagggta cccgggcaca
     2941 accgtacccc tgcccccagc cccagcctcc ctgagggcct gccgggctgc ctctgcccca
     3001 gcccccagca agggcactcc caggcttcct ggtgggtgca gcccactccc tctgccctct
     3061 gctccgttcc ctgggggctg ggactaaaga aatgggtgtc ccccacccca tcagctggga
     3121 aagcccaggc cgcaggagtg ggatgcccgt tggactttgc ccctcacact ggcccagccc
     3181 ctcacactgc cccaccccga gaaccctcag ctctcaaagg tcactcctgg gagtttcttc
     3241 ttcccaatgg aagtggctta agagccaaaa ctgaaataaa tcatttggat tcaagttca
//
