LOCUS       NM_016006               5298 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens abhydrolase domain containing 5, lysophosphatidic acid
            acyltransferase (ABHD5), transcript variant 1, mRNA.
ACCESSION   NM_016006
VERSION     NM_016006.6
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 5298)
  AUTHORS   Li,J., Chen,S., Xiao,J., Ji,J., Huang,C. and Shu,G.
  TITLE     FOXC1 transcriptionally suppresses ABHD5 to inhibit the progression
            of renal cell carcinoma through AMPK/mTOR pathway
  JOURNAL   Cell Biol Toxicol 40 (1), 62 (2024)
   PUBMED   39093497
  REMARK    GeneRIF: FOXC1 transcriptionally suppresses ABHD5 to inhibit the
            progression of renal cell carcinoma through AMPK/mTOR pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5298)
  AUTHORS   Yang,Y., Peng,Y., Yu,B. and Wang,H.
  TITLE     ABHD5-CPT1B: An Important Way of Regulating Placental Lipid
            Metabolism in Gestational Diabetes Mellitus
  JOURNAL   Arch Med Res 55 (1), 102925 (2024)
   PUBMED   38042031
  REMARK    GeneRIF: ABHD5-CPT1B: An Important Way of Regulating Placental
            Lipid Metabolism in Gestational Diabetes Mellitus.
REFERENCE   3  (bases 1 to 5298)
  AUTHORS   Gu,Y., Chen,Y., Wei,L., Wu,S., Shen,K., Liu,C., Dong,Y., Zhao,Y.,
            Zhang,Y., Zhang,C., Zheng,W., He,J., Wang,Y., Li,Y., Zhao,X.,
            Wang,H., Tan,J., Wang,L., Zhou,Q., Xie,G., Liang,H. and Ou,J.
  TITLE     ABHD5 inhibits YAP-induced c-Met overexpression and colon cancer
            cell stemness via suppressing YAP methylation
  JOURNAL   Nat Commun 12 (1), 6711 (2021)
   PUBMED   34795238
  REMARK    GeneRIF: ABHD5 inhibits YAP-induced c-Met overexpression and colon
            cancer cell stemness via suppressing YAP methylation.
            Erratum:[Nat Commun. 2023 Apr 4;14(1):1875. doi:
            10.1038/s41467-023-37521-w.. PMID: 37015940]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5298)
  AUTHORS   Zhou,T., Ni,T., Li,Y., Zhang,Q., Yan,J. and Chen,Z.J.
  TITLE     circFAM120A participates in repeated implantation failure by
            regulating decidualization via the miR-29/ABHD5 axis
  JOURNAL   FASEB J 35 (9), e21872 (2021)
   PUBMED   34449947
  REMARK    GeneRIF: circFAM120A participates in repeated implantation failure
            by regulating decidualization via the miR-29/ABHD5 axis.
REFERENCE   5  (bases 1 to 5298)
  AUTHORS   Jiang,X., Zhong,W., Yu,B., Lin,Z. and Wang,H.
  TITLE     Two cases of Chanarin-Dorfman syndrome with novel and recurrent
            mutations in the ABHD5 gene
  JOURNAL   Int J Dermatol 60 (7), 904-906 (2021)
   PUBMED   33569812
  REMARK    GeneRIF: Two cases of Chanarin-Dorfman syndrome with novel and
            recurrent mutations in the ABHD5 gene.
REFERENCE   6  (bases 1 to 5298)
  AUTHORS   Ben Selma,Z., Yilmaz,S., Schischmanoff,P.O., Blom,A., Ozogul,C.,
            Laroche,L. and Caux,F.
  TITLE     A novel S115G mutation of CGI-58 in a Turkish patient with
            Dorfman-Chanarin syndrome
  JOURNAL   J Invest Dermatol 127 (9), 2273-2276 (2007)
   PUBMED   17495960
  REMARK    GeneRIF: analysis of a novel S115G mutation of CGI-58 in a Turkish
            patient with Dorfman-Chanarin syndrome [case report]
REFERENCE   7  (bases 1 to 5298)
  AUTHORS   Yamaguchi,T., Omatsu,N., Morimoto,E., Nakashima,H., Ueno,K.,
            Tanaka,T., Satouchi,K., Hirose,F. and Osumi,T.
  TITLE     CGI-58 facilitates lipolysis on lipid droplets but is not involved
            in the vesiculation of lipid droplets caused by hormonal
            stimulation
  JOURNAL   J Lipid Res 48 (5), 1078-1089 (2007)
   PUBMED   17308334
  REMARK    GeneRIF: CGI-58 facilitates lipolysis in cooperation with perilipin
            and other factors, including lipases
REFERENCE   8  (bases 1 to 5298)
  AUTHORS   Lass,A., Zimmermann,R., Haemmerle,G., Riederer,M., Schoiswohl,G.,
            Schweiger,M., Kienesberger,P., Strauss,J.G., Gorkiewicz,G. and
            Zechner,R.
  TITLE     Adipose triglyceride lipase-mediated lipolysis of cellular fat
            stores is activated by CGI-58 and defective in Chanarin-Dorfman
            Syndrome
  JOURNAL   Cell Metab 3 (5), 309-319 (2006)
   PUBMED   16679289
  REMARK    GeneRIF: CGI-58 interacts with adipose triglyceride lipase,
            stimulating its TG hydrolase activity up to 20-fold
REFERENCE   9  (bases 1 to 5298)
  AUTHORS   Schleinitz,N., Fischer,J., Sanchez,A., Veit,V., Harle,J.R. and
            Pelissier,J.F.
  TITLE     Two new mutations of the ABHD5 gene in a new adult case of Chanarin
            Dorfman syndrome: an uncommon lipid storage disease
  JOURNAL   Arch Dermatol 141 (6), 798-800 (2005)
   PUBMED   15967942
  REMARK    GeneRIF: ABDH5 gene mutation is found in patients diagnosed with
            Chanarin Dorfman syndrome.
REFERENCE   10 (bases 1 to 5298)
  AUTHORS   Lefevre,C., Jobard,F., Caux,F., Bouadjar,B., Karaduman,A.,
            Heilig,R., Lakhdar,H., Wollenberg,A., Verret,J.L., Weissenbach,J.,
            Ozguc,M., Lathrop,M., Prud'homme,J.F. and Fischer,J.
  TITLE     Mutations in CGI-58, the gene encoding a new protein of the
            esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman
            syndrome
  JOURNAL   Am J Hum Genet 69 (5), 1002-1012 (2001)
   PUBMED   11590543
  REMARK    GeneRIF: mutational analysis in Chanarin-Dorfman syndrome
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG721387.1, BC021958.1,
            AC105903.2 and AF007132.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_016006.5.
            
            Summary: The protein encoded by this gene belongs to a large family
            of proteins defined by an alpha/beta hydrolase fold, and contains
            three sequence motifs that correspond to a catalytic triad found in
            the esterase/lipase/thioesterase subfamily. It differs from other
            members of this subfamily in that its putative catalytic triad
            contains an asparagine instead of the serine residue. Mutations in
            this gene have been associated with Chanarin-Dorfman syndrome, a
            triglyceride storage disease with impaired long-chain fatty acid
            oxidation. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). Variants 1 and 2 both encode the same isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: SRR1803615.241828.1,
                                           SRR1660805.6572.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000644371.2/ ENSP00000495778.1
            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
            1-240               BG721387.1         75-314
            241-1373            BC021958.1         224-1356
            1374-4156           AC105903.2         177600-180382
            4157-5298           AF007132.1         315-1456
FEATURES             Location/Qualifiers
     source          1..5298
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.33"
     gene            1..5298
                     /gene="ABHD5"
                     /gene_synonym="CGI58; IECN2; NCIE2"
                     /note="abhydrolase domain containing 5, lysophosphatidic
                     acid acyltransferase"
                     /db_xref="GeneID:51099"
                     /db_xref="HGNC:HGNC:21396"
                     /db_xref="MIM:604780"
     exon            1..102
                     /gene="ABHD5"
                     /gene_synonym="CGI58; IECN2; NCIE2"
                     /inference="alignment:Splign:2.1.0"
     CDS             56..1105
                     /gene="ABHD5"
                     /gene_synonym="CGI58; IECN2; NCIE2"
                     /EC_number="2.3.1.51"
                     /note="isoform a is encoded by transcript variant 1;
                     1-acylglycerol-3-phosphate O-acyltransferase ABHD5; lipid
                     droplet-binding protein CGI-58; abhydrolase
                     domain-containing protein 5"
                     /codon_start=1
                     /product="1-acylglycerol-3-phosphate O-acyltransferase
                     ABHD5 isoform a"
                     /protein_id="NP_057090.2"
                     /db_xref="CCDS:CCDS2711.1"
                     /db_xref="GeneID:51099"
                     /db_xref="HGNC:HGNC:21396"
                     /db_xref="MIM:604780"
                     /translation="MAAEEEEVDSADTGERSGWLTGWLPTWCPTSISHLKEAEEKMLK
                     CVPCTYKKEPVRISNGNKIWTLKFSHNISNKTPLVLLHGFGGGLGLWALNFGDLCTNR
                     PVYAFDLLGFGRSSRPRFDSDAEEVENQFVESIEEWRCALGLDKMILLGHNLGGFLAA
                     AYSLKYPSRVNHLILVEPWGFPERPDLADQDRPIPVWIRALGAALTPFNPLAGLRIAG
                     PFGLSLVQRLRPDFKRKYSSMFEDDTVTEYIYHCNVQTPSGETAFKNMTIPYGWAKRP
                     MLQRIGKMHPDIPVSVIFGARSCIDGNSGTSIQSLRPHSYVKTIAILGAGHYVYADQP
                     EEFNQKVKEICDTVD"
     exon            103..188
                     /gene="ABHD5"
                     /gene_synonym="CGI58; IECN2; NCIE2"
                     /inference="alignment:Splign:2.1.0"
     exon            189..561
                     /gene="ABHD5"
                     /gene_synonym="CGI58; IECN2; NCIE2"
                     /inference="alignment:Splign:2.1.0"
     exon            562..716
                     /gene="ABHD5"
                     /gene_synonym="CGI58; IECN2; NCIE2"
                     /inference="alignment:Splign:2.1.0"
     exon            717..828
                     /gene="ABHD5"
                     /gene_synonym="CGI58; IECN2; NCIE2"
                     /inference="alignment:Splign:2.1.0"
     exon            829..1015
                     /gene="ABHD5"
                     /gene_synonym="CGI58; IECN2; NCIE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1016..5298
                     /gene="ABHD5"
                     /gene_synonym="CGI58; IECN2; NCIE2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1349..1354
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABHD5"
                     /gene_synonym="CGI58; IECN2; NCIE2"
                     /note="hexamer: AATAAA"
     polyA_site      1373
                     /gene="ABHD5"
                     /gene_synonym="CGI58; IECN2; NCIE2"
                     /note="major polyA site"
     regulatory      2425..2430
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABHD5"
                     /gene_synonym="CGI58; IECN2; NCIE2"
                     /note="hexamer: AATAAA"
     polyA_site      2449
                     /gene="ABHD5"
                     /gene_synonym="CGI58; IECN2; NCIE2"
     regulatory      5281..5286
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABHD5"
                     /gene_synonym="CGI58; IECN2; NCIE2"
                     /note="hexamer: AATAAA"
     polyA_site      5298
                     /gene="ABHD5"
                     /gene_synonym="CGI58; IECN2; NCIE2"
                     /note="major polyA site"
ORIGIN      
        1 agtcggcctg tcagccggct tcgagataag tcccggcgct tgcgcggcgg cggctatggc
       61 ggcggaggag gaggaggtgg actctgccga caccggagag aggtcaggat ggctaactgg
      121 ttggctcccc acatggtgcc ctacgtctat atcacacctt aaagaagctg aagagaagat
      181 gttaaaatgt gtgccttgca catacaaaaa agaacctgtt cgtatatcta atggaaataa
      241 aatatggaca ctgaagttct ctcataatat ttcaaataag actccacttg tccttctcca
      301 tggttttgga ggaggtcttg ggctctgggc actgaatttt ggagatcttt gcaccaacag
      361 acctgtctat gcttttgacc tattgggttt tggacgaagt agtagaccca ggtttgacag
      421 tgatgcagaa gaagtggaga atcagtttgt ggaatccatt gaagagtgga gatgtgccct
      481 aggattggac aaaatgatct tgcttgggca caacctaggt ggattcttgg ctgctgctta
      541 ctcgctgaag tacccatcaa gggttaatca tctcatttta gtggagcctt ggggtttccc
      601 tgaacgacca gaccttgctg atcaagacag accaattcca gtttggatca gagccttggg
      661 agcagcattg actcccttta accctttagc tggcctaagg attgcaggac cctttggttt
      721 aagtctagtg cagcgtttaa ggcctgattt caaacgaaag tattcttcaa tgttcgaaga
      781 cgatactgtg acagaataca tctaccactg taatgtgcag actccaagtg gtgagacagc
      841 tttcaagaat atgactattc cttatggatg ggcaaaaagg ccaatgctcc agcgaattgg
      901 taaaatgcac cctgacattc cagtttcagt gatctttggc gcccgatcct gcatagatgg
      961 caattctggc accagcatcc agtccttacg accacattca tatgtgaaga caatagctat
     1021 tcttggggca ggacattatg tatatgcaga tcaaccagaa gaattcaacc agaaagtaaa
     1081 ggagatctgc gacactgtgg actgaacaca ctgaagctct gatgggaaaa cctggtgact
     1141 gatatagttg ttcagcaata attcatagtc tgtgatgaag agtagtgaat acaacacaca
     1201 accaggcagc cttcttgact atactttgca catgttttct ttaggaattc actcacacat
     1261 ttaaaccagt tagtgccttc tagaagaatg gctttccttt ctcctacaca aaattgaaat
     1321 atacaagtct ctaaatataa tacctttaaa taaaaggtta tttgtccctc tgatgtactg
     1381 aaaaactgta atttttcagc tgaaaatttt ttaatctaac tttgctagtt atttttatat
     1441 tgcaatctat attaccaatt taggaagtga tttctgagtc tcttacactg taaaggtgca
     1501 ctttattttc tttgtcttcc ccatcatgta tttattgtgt cttgataact gatattaatc
     1561 taaattcaat gtgtttttat gtaaaaattt gtcagttgtt tagaatattt cactttgttt
     1621 ttgaaacgga gtgacaaggc agatttttgg ttagaggacg ggagttgatc actatcatta
     1681 ctttttctag tttacctgtt ttttatattt aaggctgcta agccatgttc agcattttaa
     1741 atgtggtcta tcctgacata cagtgtataa caacataact ccttggaacc tcctatgtgt
     1801 ggtataattc tactcttcca aggaacatga cttcaatact ttcagtgatt caggtactga
     1861 aaagccttac ctaaaaggct gttctttgtt tccccctttc atactattct tttccatgac
     1921 ccaggatgca gcaaatgaaa cagatttctt ctcttaaggg gatattaaga ctgttacttc
     1981 ctagtaagcc aagtaatacc atatttttat taacatctaa cttttgtaga tgggtgctaa
     2041 aattgcatac attttaacca ctaaaataga aaaacaagtg gtgctattat gtctcatggc
     2101 accagaaatg agctagcact tgggtttgtt gttgctgttg tttattaaga gtattgtgtt
     2161 aattaaatca ttacatactt gaagttatat tacaaaaatt ctagaaggtt gattgaacta
     2221 tttttttagg aactaccatc aagtgtagca ttttcttgca gttttaaaat gaggaaaact
     2281 tctttgaaac tgtgaaatgc tccatgtggt aactggctgc tgagaaaacc cttcaccaaa
     2341 aaaataaata aaaattgaat aggattgtca tcaagaaggc atctttcgct aacgttgctt
     2401 gtctaggaga aaggtagcta tgtaaataaa aacagtgaac tagagcaaat agtggtttaa
     2461 tggttttgtt attgcatttt taaaatggtt aattagggaa tttgtagttg ttaggaaatg
     2521 taaggttgtg tcactgttga ttaactgcca gaaagactga atgttctatt ttcaacattt
     2581 ctcccctata aaagaataga caaattatac tgaagcatga tataaacatc ttcccaatga
     2641 acaatttgtc tcacttgtca gattaactag gttagtgcag gaagcaacat gagcgccaag
     2701 atgtgttgtc tgatttctct accttaagaa caataatagt ctttttagtt agtattttgg
     2761 atggccaggt ttcaaacctg tatgtggtac aaataatttg ggtaatattt ttgtattttt
     2821 gttttacaca ctctctaatc tcaattatcc tttgctggga gaatgacagg tttcacttat
     2881 acaggaaggt ttttgcacag gaaatttggt cccagccctt ggaaggaaga agttccttcg
     2941 tttacttagt gaatggagtt tctggccgca gatgtgccaa gtgattgaag aaagatatac
     3001 cccaatatca agtgataatt tattttccta cagactgaat ttgctttatt tgaaagatgt
     3061 tgtaactctt tttaaagtta gattttaccc tgaggtatag tatatgtaat tttgtgaaga
     3121 ttgagctgga agggaagttc acaatcctca catttaaaaa aatatagtgg gtgctaaatg
     3181 ttttcttaaa aatctagtac agcatttgat ctttgttatg cacagcatac ttttatttta
     3241 cagaataaat tttcctgtga tagtcacaac aagacagctg tatagtttct tgagtctttt
     3301 gtatggacca gtctctgtat aatagttaac tacaggactg tggatccagc aaatgttcag
     3361 taaatgctgc tgttgttctt agggaaggct actctgggtg ttgtggccgc catacatggc
     3421 tttacctggg tccatgcatt cccttaagat gacttctgtt ttcttctttt ttcttctgat
     3481 tttccaaaaa aaaaaaagcc ttgcctaagg ttggttttag aatatgattt gcagaacact
     3541 tttgaaatgt cttcattcat atatgtaata tatatttata cttaaagggc catacgcgat
     3601 ttcaataaaa caagaagtac tggaaagaat aaacaaaaat agccagaaga tgcctagaaa
     3661 agaacaatgt ggaaggaggg ataaccctat taaatattat aacataatgt ttacaatatg
     3721 agaaagtcta ggaatttagt acatgataaa gcatctcatt cagagaaaaa ggctttaaaa
     3781 atggtgttga gagaagtgtg gttaaccatt tggaaaaaaa aataaaattg aatcgatttc
     3841 tcacaggata cacaggataa aatctgaata gaacaaagac ccaattttta aaatgaaacc
     3901 ctctttctaa ctagaagaaa acatagatga attattgtat aatctgacag tgagaaaaac
     3961 tttcctagga ctgaaaattc agaagcaata aaaagagaag tctatagaag aattttcagc
     4021 cagatggaat ggctcatggc tgtaatccca gcattttggg aggctgaggc agaaggactg
     4081 cttgagacca ggaattcaaa accaacctgg gcaacctagt aggactggct ctaccaaaaa
     4141 aaaaaaaaaa aaaaaattaa gtacctggcc tgggttccac ctacttggga ggctgaggta
     4201 ggaggactgt gagcccagga gtttgaggat gcagtaagcc actgcactcc agcctgggtg
     4261 acagagaaga aaaaagattt ttttggatag ctgaaaatat ttgcagcatt tatcacagag
     4321 ggctaattgt agccctatat atgaagaatt ttaaactatg agaagaaccc gaagaatagg
     4381 caaaaggatg tgaacagaca gttaacagaa aatagaatgc aaatggtctt taaacataca
     4441 aggatatgca taaaaagaca aatgcaaaat aaaataaaat aatggaaata cctttcttac
     4501 ctgtgagatt ggggaaaatc caagttaggc aatgcactct gttgagacaa tagggaaaca
     4561 ggcactccaa aaattacaaa tccctgtgga tggtatttgt taactagcaa agttaaatga
     4621 gtatatcctt caacctggca gacccagttc taagaatcca tatgagatgc acttgcaaga
     4681 atatgaaata gtatatgcac aaagatcttg attacagcac tgtttctaat agctacagac
     4741 tggaagccag ccaaatctcc attgataggg aattgatgga aggaactagg gtatatctat
     4801 acaatgggat actacacagc tgtagaaagg actgcgaact atttttgtag ttctggtctg
     4861 gagaaatctc cagaatatag gaaatgaaaa atgtaaagca cagaagagaa tgtatggtgt
     4921 gctgtctgtt gtataacgaa gagacaaatg gaaaaaatat gtatttgctt tttttgtaaa
     4981 gcaatagaag aattagttat accaataact aataaaatga tctccttgtt agtggtggta
     5041 gggagctaga caaggatggc aactatttct gtatcttaca taccttttat tttgaggccc
     5101 tgtcaatgtt ttatataata aacatttttt gaaaaggcaa ctcttaaaac taaaacaaac
     5161 ttaacagtct gtcaagttgg tgatataacc ccacagaaga cttacttcaa gtgacttgaa
     5221 aacttagtat tttgtctgta ctttgctaat ggaatatatc ctacagacca aacaaccaca
     5281 aataaatctt aaactgca
//
