LOCUS       NM_021160               1977 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens abhydrolase domain containing 16A, phospholipase
            (ABHD16A), transcript variant 1, mRNA.
ACCESSION   NM_021160
VERSION     NM_021160.3
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 1977)
  AUTHORS   Kim,D.K., Weller,B., Lin,C.W., Sheykhkarimli,D., Knapp,J.J.,
            Dugied,G., Zanzoni,A., Pons,C., Tofaute,M.J., Maseko,S.B.,
            Spirohn,K., Laval,F., Lambourne,L., Kishore,N., Rayhan,A.,
            Sauer,M., Young,V., Halder,H., la Rosa,N.M., Pogoutse,O.,
            Strobel,A., Schwehn,P., Li,R., Rothballer,S.T., Altmann,M.,
            Cassonnet,P., Cote,A.G., Vergara,L.E., Hazelwood,I., Liu,B.B.,
            Nguyen,M., Pandiarajan,R., Dohai,B., Coloma,P.A.R., Poirson,J.,
            Giuliana,P., Willems,L., Taipale,M., Jacob,Y., Hao,T., Hill,D.E.,
            Brun,C., Twizere,J.C., Krappmann,D., Heinig,M., Falter,C., Aloy,P.,
            Demeret,C., Vidal,M., Calderwood,M.A., Roth,F.P. and
            Falter-Braun,P.
  TITLE     A proteome-scale map of the SARS-CoV-2-human contactome
  JOURNAL   Nat Biotechnol 41 (1), 140-149 (2023)
   PUBMED   36217029
REFERENCE   2  (bases 1 to 1977)
  AUTHORS   Miyake,N., Silva,S., Troncoso,M., Okamoto,N., Andachi,Y., Kato,M.,
            Iwabuchi,C., Hirose,M., Fujita,A., Uchiyama,Y. and Matsumoto,N.
  TITLE     A homozygous ABHD16A variant causes a complex hereditary spastic
            paraplegia with developmental delay, absent speech, and
            characteristic face
  JOURNAL   Clin Genet 101 (3), 359-363 (2022)
   PUBMED   34866177
  REMARK    GeneRIF: A homozygous ABHD16A variant causes a complex hereditary
            spastic paraplegia with developmental delay, absent speech, and
            characteristic face.
REFERENCE   3  (bases 1 to 1977)
  AUTHORS   Lemire,G., Ito,Y.A., Marshall,A.E., Chrestian,N., Stanley,V.,
            Brady,L., Tarnopolsky,M., Curry,C.J., Hartley,T., Mears,W.,
            Derksen,A., Rioux,N., Laflamme,N., Hutchison,H.T., Pais,L.S.,
            Zaki,M.S., Sultan,T., Dane,A.D., Gleeson,J.G., Vaz,F.M.,
            Kernohan,K.D., Bernard,G. and Boycott,K.M.
  CONSRTM   Care4Rare Canada Consortium
  TITLE     ABHD16A deficiency causes a complicated form of hereditary spastic
            paraplegia associated with intellectual disability and cerebral
            anomalies
  JOURNAL   Am J Hum Genet 108 (10), 2017-2023 (2021)
   PUBMED   34587489
  REMARK    GeneRIF: ABHD16A deficiency causes a complicated form of hereditary
            spastic paraplegia associated with intellectual disability and
            cerebral anomalies.
REFERENCE   4  (bases 1 to 1977)
  AUTHORS   Singh,S., Joshi,A. and Kamat,S.S.
  TITLE     Mapping the Neuroanatomy of ABHD16A, ABHD12, and
            Lysophosphatidylserines Provides New Insights into the
            Pathophysiology of the Human Neurological Disorder PHARC
  JOURNAL   Biochemistry 59 (24), 2299-2311 (2020)
   PUBMED   32462874
  REMARK    GeneRIF: Mapping the Neuroanatomy of ABHD16A, ABHD12, and
            Lysophosphatidylserines Provides New Insights into the
            Pathophysiology of the Human Neurological Disorder PHARC.
REFERENCE   5  (bases 1 to 1977)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 1977)
  AUTHORS   Harney,S.M., Vilarino-Guell,C., Adamopoulos,I.E., Sims,A.M.,
            Lawrence,R.W., Cardon,L.R., Newton,J.L., Meisel,C., Pointon,J.J.,
            Darke,C., Athanasou,N., Wordsworth,B.P. and Brown,M.A.
  TITLE     Fine mapping of the MHC Class III region demonstrates association
            of AIF1 and rheumatoid arthritis
  JOURNAL   Rheumatology (Oxford) 47 (12), 1761-1767 (2008)
   PUBMED   18835879
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 1977)
  AUTHORS   Lehner,B., Semple,J.I., Brown,S.E., Counsell,D., Campbell,R.D. and
            Sanderson,C.M.
  TITLE     Analysis of a high-throughput yeast two-hybrid system and its use
            to predict the function of intracellular proteins encoded within
            the human MHC class III region
  JOURNAL   Genomics 83 (1), 153-167 (2004)
   PUBMED   14667819
REFERENCE   8  (bases 1 to 1977)
  AUTHORS   Xie,T., Rowen,L., Aguado,B., Ahearn,M.E., Madan,A., Qin,S.,
            Campbell,R.D. and Hood,L.
  TITLE     Analysis of the gene-dense major histocompatibility complex class
            III region and its comparison to mouse
  JOURNAL   Genome Res 13 (12), 2621-2636 (2003)
   PUBMED   14656967
REFERENCE   9  (bases 1 to 1977)
  AUTHORS   Spies,T., Bresnahan,M. and Strominger,J.L.
  TITLE     Human major histocompatibility complex contains a minimum of 19
            genes between the complement cluster and HLA-B
  JOURNAL   Proc Natl Acad Sci U S A 86 (22), 8955-8958 (1989)
   PUBMED   2813433
REFERENCE   10 (bases 1 to 1977)
  AUTHORS   Spies,T., Blanck,G., Bresnahan,M., Sands,J. and Strominger,J.L.
  TITLE     A new cluster of genes within the human major histocompatibility
            complex
  JOURNAL   Science 243 (4888), 214-217 (1989)
   PUBMED   2911734
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC360732.1, BC031839.1,
            AK023194.1, BE272017.1 and AI076373.1.
            
            On Nov 23, 2018 this sequence version replaced NM_021160.2.
            
            Summary: A cluster of genes, BAT1-BAT5, has been localized in the
            vicinity of the genes for tumor necrosis factor alpha and tumor
            necrosis factor beta. These genes are all within the human major
            histocompatibility complex class III region. The protein encoded by
            this gene is thought to be involved in some aspects of immunity.
            Alternatively spliced transcript variants have been described.
            [provided by RefSeq, Apr 2010].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            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 :: SRR5189667.131676.1, AK289469.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000395952.8/ ENSP00000379282.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 DC360732.1         37-45
            10-703              BC031839.1         1-694
            704-704             AK023194.1         691-691
            705-1068            BC031839.1         696-1059
            1069-1069           BE272017.1         485-485
            1070-1974           BC031839.1         1061-1965
            1975-1977           AI076373.1         8-10                c
FEATURES             Location/Qualifiers
     source          1..1977
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..1977
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /note="abhydrolase domain containing 16A, phospholipase"
                     /db_xref="GeneID:7920"
                     /db_xref="HGNC:HGNC:13921"
                     /db_xref="MIM:142620"
     exon            1..175
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     CDS             44..1720
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /EC_number="3.1.1.23"
                     /note="isoform a is encoded by transcript variant 1; HLA-B
                     associated transcript 5; abhydrolase domain-containing
                     protein 16A; protein G5; alpha/beta hydrolase
                     domain-containing protein 16A; protein ABHD16A;
                     monoacylglycerol lipase ABHD16A; phosphatidylserine lipase
                     ABHD16A"
                     /codon_start=1
                     /product="phosphatidylserine lipase ABHD16A isoform a"
                     /protein_id="NP_066983.1"
                     /db_xref="CCDS:CCDS4713.1"
                     /db_xref="GeneID:7920"
                     /db_xref="HGNC:HGNC:13921"
                     /db_xref="MIM:142620"
                     /translation="MAKLLSCVLGPRLYKIYRERDSERAPASVPETPTAVTAPHSSSW
                     DTYYQPRALEKHADSILALASVFWSISYYSSPFAFFYLYRKGYLSLSKVVPFSHYAGT
                     LLLLLAGVACLRGIGRWTNPQYRQFITILEATHRNQSSENKRQLANYNFDFRSWPVDF
                     HWEEPSSRKESRGGPSRRGVALLRPEPLHRGTADTLLNRVKKLPCQITSYLVAHTLGR
                     RMLYPGSVYLLQKALMPVLLQGQARLVEECNGRRAKLLACDGNEIDTMFVDRRGTAEP
                     QGQKLVICCEGNAGFYEVGCVSTPLEAGYSVLGWNHPGFAGSTGVPFPQNEANAMDVV
                     VQFAIHRLGFQPQDIIIYAWSIGGFTATWAAMSYPDVSAMILDASFDDLVPLALKVMP
                     DSWRGLVTRTVRQHLNLNNAEQLCRYQGPVLLIRRTKDEIITTTVPEDIMSNRGNDLL
                     LKLLQHRYPRVMAEEGLRVVRQWLEASSQLEEASIYSRWEVEEDWCLSVLRSYQAEHG
                     PDFPWSVGEDMSADGRRQLALFLARKHLHNFEATHCTPLPAQNFQMPWHL"
     exon            176..232
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     exon            233..299
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     exon            300..386
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     exon            387..472
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     exon            473..546
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     exon            547..669
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     exon            670..784
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     exon            785..886
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     exon            887..950
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     exon            951..1000
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     exon            1001..1124
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     exon            1125..1229
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     exon            1230..1293
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     exon            1294..1350
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     exon            1351..1413
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     exon            1414..1490
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     exon            1491..1589
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     exon            1590..1636
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     exon            1637..1977
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1951..1956
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /note="hexamer: AATAAA"
     polyA_site      1977
                     /gene="ABHD16A"
                     /gene_synonym="BAT5; D6S82E; hBAT5; NG26; PP199; SPG86"
                     /note="major polyA site"
ORIGIN      
        1 agggggacct gctgctggaa gagcagcggc ccgagccggg gccatggcga agctgctgag
       61 ctgcgtccta ggcccccggc tctacaaaat ctaccgggag agggactctg aaagggcccc
      121 ggccagcgtc cctgagacgc caacggcagt cactgccccc cattccagct cctgggatac
      181 gtactatcag ccccgtgccc tggagaaaca tgctgacagc atcctggcac tggcttcagt
      241 attctggtcc atctcttatt actcctctcc cttcgccttc ttctacttgt acaggaaagg
      301 ttacttgagt ttgtccaaag tggtgccgtt ttctcactat gctgggacat tgctgctact
      361 tctggcaggt gtggcctgcc tccgaggcat tggccgctgg accaaccccc agtaccggca
      421 gttcatcacc atcttggaag caacacatcg gaaccagtct tcagaaaaca agaggcagct
      481 tgccaactac aactttgact tccggagctg gccagtcgac ttccactggg aagaacccag
      541 cagccggaag gagtctcgag ggggcccttc ccgccggggt gtggccctgc ttcgcccaga
      601 gcccctgcac cgggggacag cagacaccct cctcaaccgg gttaagaagc tgccttgtca
      661 gatcaccagc tacctggtgg cgcacaccct agggcgccgg atgctgtatc caggctctgt
      721 gtacctgctg cagaaggccc tcatgcctgt gctgctgcag ggccaggccc gactggtgga
      781 agagtgtaat gggcgccggg caaagctgct ggcctgtgat ggcaatgaga ttgacaccat
      841 gtttgtggac cggcggggga cagctgagcc ccagggacag aagctggtga tctgctgtga
      901 ggggaatgct gggttttatg aggtgggctg cgtctccacg cccctggaag ctggatattc
      961 agtcctgggc tggaatcatc caggctttgc tggaagcacg ggggtgccat tcccgcagaa
     1021 tgaggctaat gccatggatg tggtggtcca gtttgccatc caccgcctag gcttccagcc
     1081 ccaggacatc atcatctacg cctggtccat cggcggcttc actgccacgt gggcagccat
     1141 gtcctaccca gatgttagtg ccatgatcct ggatgcctcc tttgatgacc tggtgccctt
     1201 ggccttgaag gtcatgccag acagctggag gggcctggtg accaggaccg tgaggcagca
     1261 tctcaatcta aacaacgcgg agcagctgtg cagataccag ggtcctgtac tgctgatccg
     1321 gagaaccaag gatgagatca tcaccaccac ggttcctgag gacatcatgt ccaaccgagg
     1381 caatgacctc ctgctgaagc tcctgcagca tcggtatccc cgggtgatgg cagaggaggg
     1441 tcttcgagtg gtgaggcagt ggttggaggc ctcctcacag ctggaggaag cctcaattta
     1501 tagccgatgg gaggtggaag aggactggtg tctgtctgtc ctccgctcct accaggcaga
     1561 acacgggccc gacttcccct ggagcgtggg ggaggacatg agtgcagatg gacggcggca
     1621 gctggctttg tttctggctc ggaagcatct gcacaacttt gaggccactc actgcacccc
     1681 actcccagcc cagaacttcc agatgccctg gcacctctag ggaccaactg ggactcatta
     1741 tggaagaatg gggtgagagg agacatgagg aaagaccctc ttatttgtga ttctctgtgt
     1801 tcatgttgct gtttatagtt tgtggaaagt gggggaccat cccccttctc accactgttc
     1861 ctcttgcacg tttcccctca ttcatgtggc tgtacttaac cttctccaac atacatcctg
     1921 cattacatga atggattatt cctaataatt aataaaaagg tattttttct actatca
//
