LOCUS       NM_001320126            2198 bp    mRNA    linear   PRI 27-JUL-2024
DEFINITION  Homo sapiens abhydrolase domain containing 6, acylglycerol lipase
            (ABHD6), transcript variant 1, mRNA.
ACCESSION   NM_001320126 XM_005265336
VERSION     NM_001320126.2
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 2198)
  AUTHORS   Xiong,X., Yang,C., Jin,Y., Zhang,R., Wang,S., Gan,L., Hou,S.,
            Bao,Y., Zeng,Z., Ye,Y. and Gao,Z.
  TITLE     ABHD6 suppresses colorectal cancer progression via AKT signaling
            pathway
  JOURNAL   Mol Carcinog 63 (4), 647-662 (2024)
   PUBMED   38197491
  REMARK    GeneRIF: ABHD6 suppresses colorectal cancer progression via AKT
            signaling pathway.
REFERENCE   2  (bases 1 to 2198)
  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   3  (bases 1 to 2198)
  AUTHORS   Tang,Z., Xie,H., Heier,C., Huang,J., Zheng,Q., Eichmann,T.O.,
            Schoiswohl,G., Ni,J., Zechner,R., Ni,S. and Hao,H.
  TITLE     Enhanced monoacylglycerol lipolysis by ABHD6 promotes NSCLC
            pathogenesis
  JOURNAL   EBioMedicine 53, 102696 (2020)
   PUBMED   32143183
  REMARK    GeneRIF: Enhanced monoacylglycerol lipolysis by ABHD6 promotes
            NSCLC pathogenesis.
REFERENCE   4  (bases 1 to 2198)
  AUTHORS   Grabner,G.F., Fawzy,N., Pribasnig,M.A., Trieb,M., Taschler,U.,
            Holzer,M., Schweiger,M., Wolinski,H., Kolb,D., Horvath,A.,
            Breinbauer,R., Rulicke,T., Rabl,R., Lass,A., Stadlbauer,V.,
            Hutter-Paier,B., Stauber,R.E., Fickert,P., Zechner,R., Marsche,G.,
            Eichmann,T.O. and Zimmermann,R.
  TITLE     Metabolic disease and ABHD6 alter the circulating
            bis(monoacylglycerol)phosphate profile in mice and humans
  JOURNAL   J Lipid Res 60 (5), 1020-1031 (2019)
   PUBMED   30894461
  REMARK    GeneRIF: It demonstrate that ABHD6 affect
            Bis(monoacylglycerol)phosphate (BMP) metabolism in mice and humans.
REFERENCE   5  (bases 1 to 2198)
  AUTHORS   Rahaman,O., Bhattacharya,R., Liu,C.S.C., Raychaudhuri,D.,
            Ghosh,A.R., Bandopadhyay,P., Pal,S., Goswami,R.P., Sircar,G.,
            Ghosh,P. and Ganguly,D.
  TITLE     Cutting Edge: Dysregulated Endocannabinoid-Rheostat for
            Plasmacytoid Dendritic Cell Activation in a Systemic Lupus
            Endophenotype
  JOURNAL   J Immunol 202 (6), 1674-1679 (2019)
   PUBMED   30728209
  REMARK    GeneRIF: We discovered a regulatory role of ABHD6 in human
            plasmacytoid dendritic cells (pDCs) through modulating the local
            abundance of its substrate, the endocannabinoid 2-arachidonyl
            glycerol (2-AG), and elucidated a hitherto unknown cannabinoid
            receptor 2-mediated regulatory role of 2-AG on IFN-alpha induction
            by pDCs.
REFERENCE   6  (bases 1 to 2198)
  AUTHORS   Thomas,G., Betters,J.L., Lord,C.C., Brown,A.L., Marshall,S.,
            Ferguson,D., Sawyer,J., Davis,M.A., Melchior,J.T., Blume,L.C.,
            Howlett,A.C., Ivanova,P.T., Milne,S.B., Myers,D.S., Mrak,I.,
            Leber,V., Heier,C., Taschler,U., Blankman,J.L., Cravatt,B.F.,
            Lee,R.G., Crooke,R.M., Graham,M.J., Zimmermann,R., Brown,H.A. and
            Brown,J.M.
  TITLE     The serine hydrolase ABHD6 Is a critical regulator of the metabolic
            syndrome
  JOURNAL   Cell Rep 5 (2), 508-520 (2013)
   PUBMED   24095738
REFERENCE   7  (bases 1 to 2198)
  AUTHORS   Navia-Paldanius,D., Savinainen,J.R. and Laitinen,J.T.
  TITLE     Biochemical and pharmacological characterization of human
            alpha/beta-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12)
  JOURNAL   J Lipid Res 53 (11), 2413-2424 (2012)
   PUBMED   22969151
  REMARK    GeneRIF: Data show that the three hydrolases are genuine MAG
            lipases; medium-chain saturated MAGs were the best substrates for
            hABHD6 and hMAGL, whereas hABHD12 preferred the 1 (3)- and
            2-isomers of arachidonoylglycerol.
REFERENCE   8  (bases 1 to 2198)
  AUTHORS   Long,L.E., Lind,J., Webster,M. and Weickert,C.S.
  TITLE     Developmental trajectory of the endocannabinoid system in human
            dorsolateral prefrontal cortex
  JOURNAL   BMC Neurosci 13, 87 (2012)
   PUBMED   22827915
  REMARK    GeneRIF: ABHD6 increases from neonatal age.
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 2198)
  AUTHORS   Max,D., Hesse,M., Volkmer,I. and Staege,M.S.
  TITLE     High expression of the evolutionarily conserved alpha/beta
            hydrolase domain containing 6 (ABHD6) in Ewing tumors
  JOURNAL   Cancer Sci 100 (12), 2383-2389 (2009)
   PUBMED   19793082
  REMARK    GeneRIF: High expression of ABHD6 in Ewing family tumors (EFT) in
            comparison to normal tissues and other tumors suggests that ABHD6
            might be an interesting new diagnostic or therapeutic target for
            EFT.
REFERENCE   10 (bases 1 to 2198)
  AUTHORS   Li,F., Fei,X., Xu,J. and Ji,C.
  TITLE     An unannotated alpha/beta hydrolase superfamily member, ABHD6
            differentially expressed among cancer cell lines
  JOURNAL   Mol Biol Rep 36 (4), 691-696 (2009)
   PUBMED   18360779
  REMARK    GeneRIF: report the tissue distribution, subcellular location and
            differential distribution among cancer cell lines of Abhd6, one
            unannotated member of this group
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB171182.1, AK122983.1, BC001698.2 and BF111593.1.
            
            On May 17, 2019 this sequence version replaced NM_001320126.1.
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            
            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 :: SRR1803615.88419.1,
                                           SRR1660809.167111.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000478253.6/ ENSP00000420315.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                DB171182.1         212-236
            26-1186             AK122983.1         8-1168
            1187-1826           BC001698.2         1085-1724
            1827-2196           AK122983.1         1809-2178
            2197-2198           BF111593.1         21-22               c
FEATURES             Location/Qualifiers
     source          1..2198
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.3"
     gene            1..2198
                     /gene="ABHD6"
                     /note="abhydrolase domain containing 6, acylglycerol
                     lipase"
                     /db_xref="GeneID:57406"
                     /db_xref="HGNC:HGNC:21398"
                     /db_xref="MIM:616966"
     exon            1..125
                     /gene="ABHD6"
                     /inference="alignment:Splign:2.1.0"
     exon            126..190
                     /gene="ABHD6"
                     /inference="alignment:Splign:2.1.0"
     exon            191..334
                     /gene="ABHD6"
                     /inference="alignment:Splign:2.1.0"
     CDS             216..1229
                     /gene="ABHD6"
                     /EC_number="3.1.1.23"
                     /note="lipase protein; 2-arachidonoylglycerol hydrolase;
                     abhydrolase domain-containing protein 6"
                     /codon_start=1
                     /product="monoacylglycerol lipase ABHD6"
                     /protein_id="NP_001307055.1"
                     /db_xref="CCDS:CCDS2887.1"
                     /db_xref="GeneID:57406"
                     /db_xref="HGNC:HGNC:21398"
                     /db_xref="MIM:616966"
                     /translation="MDLDVVNMFVIAGGTLAIPILAFVASFLLWPSALIRIYYWYWRR
                     TLGMQVRYVHHEDYQFCYSFRGRPGHKPSILMLHGFSAHKDMWLSVVKFLPKNLHLVC
                     VDMPGHEGTTRSSLDDLSIDGQVKRIHQFVECLKLNKKPFHLVGTSMGGQVAGVYAAY
                     YPSDVSSLCLVCPAGLQYSTDNQFVQRLKELQGSAAVEKIPLIPSTPEEMSEMLQLCS
                     YVRFKVPQQILQGLVDVRIPHNNFYRKLFLEIVSEKSRYSLHQNMDKIKVPTQIIWGK
                     QDQVLDVSGADMLAKSIANCQVELLENCGHSVVMERPRKTAKLIIDFLASVHNTDNNK
                     KLD"
     exon            335..491
                     /gene="ABHD6"
                     /inference="alignment:Splign:2.1.0"
     exon            492..605
                     /gene="ABHD6"
                     /inference="alignment:Splign:2.1.0"
     exon            606..738
                     /gene="ABHD6"
                     /inference="alignment:Splign:2.1.0"
     exon            739..896
                     /gene="ABHD6"
                     /inference="alignment:Splign:2.1.0"
     exon            897..951
                     /gene="ABHD6"
                     /inference="alignment:Splign:2.1.0"
     exon            952..1052
                     /gene="ABHD6"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..2198
                     /gene="ABHD6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2180..2185
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABHD6"
                     /note="hexamer: AATAAG"
     polyA_site      2198
                     /gene="ABHD6"
                     /note="major polyA site"
ORIGIN      
        1 gggctgggcg ccggagctgg gagcggcgcg ggtaggagcc cggcggcagg tcccagcccg
       61 gggctagaga ccgagggccg gggtccgggc ccggcggcgg gacccaggcg gttgaggctg
      121 gtcagaatct cattttcagc ttctgccaga gccagtagca gttgggaaag aaggctgtgc
      181 tctttgaaga gagtcagcca gcctgaaaga gcaggatgga tcttgatgtg gttaacatgt
      241 ttgtgattgc gggcggcacg ctggccatcc caatcctggc atttgtggct tcatttcttc
      301 tgtggccttc agcactgata agaatctatt attggtactg gcggaggaca ttgggcatgc
      361 aagtccgcta tgttcaccat gaagactatc agttctgtta ttccttccgg ggcaggcctg
      421 ggcacaaacc ctccatcctc atgctccacg gattctctgc ccacaaggat atgtggctca
      481 gtgtggtcaa gttccttcca aagaacctgc acttggtctg cgtggacatg ccaggacatg
      541 agggcaccac ccgctcctcc ctggatgacc tgtccataga tgggcaagtt aagaggatac
      601 accagtttgt agaatgcctg aagctgaaca aaaaaccttt ccacctggta ggcacctcca
      661 tgggtggcca ggtggctggg gtgtatgctg cttactaccc atcggatgtc tccagcctgt
      721 gtctcgtgtg tcctgctggc ctgcagtact caactgacaa tcaatttgta caacggctca
      781 aagaactgca gggctctgcc gccgtggaga agattccctt gatcccgtct accccagaag
      841 agatgagtga aatgcttcag ctctgctcct atgtccgctt caaggtgccc cagcagatcc
      901 tgcaaggcct tgtcgatgtc cgcatccctc ataacaactt ctaccgaaag ttgtttttgg
      961 aaatcgtcag tgagaagtcc agatactctc tccatcagaa catggacaag atcaaggttc
     1021 cgacgcagat catctggggg aaacaagacc aggtgctgga tgtgtctggg gcagacatgt
     1081 tggccaagtc aattgccaac tgccaggtgg agcttctgga aaactgtggg cactcagtag
     1141 tgatggaaag acccaggaag acagccaagc tcataatcga ctttttagct tctgtgcaca
     1201 acacagacaa caacaagaag ctggactgag gccccgactg cagcctgcat tctgcacaca
     1261 gcatctgctc ccatccccca agtctgacgc agccaccact ctcagggatc ctgccccaaa
     1321 tgcggtcgga gcgccagtga ccctgaggaa gcccgtccct tatccctggt atccacggtt
     1381 ccccagagct ttggggacca cgcgaaaacc tccaagatat ttttcacaaa atagaaactc
     1441 atatggaaca aaataagaaa ccccagccat gaaatctacc atgaagtctt caagttcatg
     1501 tcactgagaa gcttgtgcaa agcagccacc ttggaccata attaaatcaa ggacattttc
     1561 tttgagacat tccttatagt tggagactca agatattttt gttgcatcag gtgtattccc
     1621 ttgcatgggc agtggctttt ataggagcat tagtcctcat tcgctgaacc ctgttgttta
     1681 ggtctaattt aagttttaca tagagaccca tgtatgactg cagcccattg gctgcaagac
     1741 cagggaggaa agtggcaagc tgtagaaaat gtttacacgc atggaggggc attgctctag
     1801 ccctcagagc gtccggagca gcagggtaca tgggtgggag gttcattcag cacccaccag
     1861 tcaggtatgt tctgagtgaa cccacagcag tcgcagaatg agcacctggc agggtgggtt
     1921 tcctaggaat aatttattat ttttaaaaat aggcctaata aagcaataat gttctagaca
     1981 tctgtctaag taatcagact caggttccac acacaagcaa caactcgtgg gcctcttttc
     2041 tatttcaatg tgctactaag aacccttgga tgtaacatac tagttagtta atgaattctg
     2101 tgaattctgt gaagagtaat gtgattgaaa ataagtctaa acagctgtaa aagtgaccac
     2161 aatgacatga aataaattta ataagtctag atcagcaa
//
