LOCUS       NM_032604               1420 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens abhydrolase domain containing 1 (ABHD1), mRNA.
ACCESSION   NM_032604
VERSION     NM_032604.4
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 1420)
  AUTHORS   Lan,C., Wu,Y., Wang,N., Luo,Y., Zhao,J., Zheng,Y., Zhang,Y.,
            Huang,L., Zhu,Y., Lu,L., Zhong,W., Zeng,J. and Xia,H.
  TITLE     Association between ABHD1 and DOK6 polymorphisms and susceptibility
            to Hirschsprung disease in Southern Chinese children
  JOURNAL   J Cell Mol Med 25 (20), 9609-9616 (2021)
   PUBMED   34545688
  REMARK    GeneRIF: Association between ABHD1 and DOK6 polymorphisms and
            susceptibility to Hirschsprung disease in Southern Chinese
            children.
REFERENCE   2  (bases 1 to 1420)
  AUTHORS   Edgar,A.J.
  TITLE     The gene structure and expression of human ABHD1: overlapping
            polyadenylation signal sequence with Sec12
  JOURNAL   BMC Genomics 4 (1), 18 (2003)
   PUBMED   12735795
REFERENCE   3  (bases 1 to 1420)
  AUTHORS   Edgar,A.J. and Polak,J.M.
  TITLE     Cloning and tissue distribution of three murine alpha/beta
            hydrolase fold protein cDNAs
  JOURNAL   Biochem Biophys Res Commun 292 (3), 617-625 (2002)
   PUBMED   11922611
  REMARK    GeneRIF: The mouse ortholog of ABHD1 is sequenced and
            tissue-specific mRNA expression is described.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB455979.1 and BC039576.1.
            
            On Nov 23, 2018 this sequence version replaced NM_032604.3.
            
            Summary: This gene is a member of the AB hydrolase superfamily and
            encodes a protein with an alpha/beta hydrolase fold. This domain is
            common to a number of hydrolytic enzymes of widely differing
            phylogenetic origins and catalytic functions. [provided by RefSeq,
            Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: HM005318.1, BC039576.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000316470.9/ ENSP00000326491.4
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-431               DB455979.1         58-488
            432-1420            BC039576.1         412-1400
FEATURES             Location/Qualifiers
     source          1..1420
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..1420
                     /gene="ABHD1"
                     /gene_synonym="LABH1"
                     /note="abhydrolase domain containing 1"
                     /db_xref="GeneID:84696"
                     /db_xref="HGNC:HGNC:17553"
                     /db_xref="MIM:612195"
     exon            1..248
                     /gene="ABHD1"
                     /gene_synonym="LABH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             135..1352
                     /gene="ABHD1"
                     /gene_synonym="LABH1"
                     /note="lung alpha/beta hydrolase 1; abhydrolase
                     domain-containing protein 1; alpha/beta hydrolase
                     domain-containing protein 1; testicular tissue protein Li
                     5"
                     /codon_start=1
                     /product="protein ABHD1"
                     /protein_id="NP_115993.3"
                     /db_xref="CCDS:CCDS1736.1"
                     /db_xref="GeneID:84696"
                     /db_xref="HGNC:HGNC:17553"
                     /db_xref="MIM:612195"
                     /translation="MLSSFLSPQNGTWADTFSLLLALAVALYLGYYWACVLQRPRLVA
                     GPQFLAFLEPHCSITTETFYPTLWCFEGRLQSIFQVLLQSQPLVLYQSDILQTPDGGQ
                     LLLDWAKQPDSSQDPDPTTQPIVLLLPGITGSSQETYVLHLVNQALRDGYQAVVFNNR
                     GCRGEELRTHRAFCASNTEDLETVVNHIKHRYPQAPLLAVGISFGGILVLNHLAQARQ
                     AAGLVAALTLSACWDSFETTRSLETPLNSLLFNQPLTAGLCQLVERNRKVIEKVVDID
                     FVLQARTIRQFDERYTSVAFGYQDCVTYYKAASPRTKIDAIRIPVLYLSAADDPFSPV
                     CALPIQAAQHSPYVALLITARGGHIGFLEGLLPWQHWYMSRLLHQYAKAIFQDPEGLP
                     DLRALLPSEDRNS"
     exon            249..409
                     /gene="ABHD1"
                     /gene_synonym="LABH1"
                     /inference="alignment:Splign:2.1.0"
     exon            410..592
                     /gene="ABHD1"
                     /gene_synonym="LABH1"
                     /inference="alignment:Splign:2.1.0"
     exon            593..638
                     /gene="ABHD1"
                     /gene_synonym="LABH1"
                     /inference="alignment:Splign:2.1.0"
     exon            639..751
                     /gene="ABHD1"
                     /gene_synonym="LABH1"
                     /inference="alignment:Splign:2.1.0"
     exon            752..925
                     /gene="ABHD1"
                     /gene_synonym="LABH1"
                     /inference="alignment:Splign:2.1.0"
     exon            926..974
                     /gene="ABHD1"
                     /gene_synonym="LABH1"
                     /inference="alignment:Splign:2.1.0"
     exon            975..1140
                     /gene="ABHD1"
                     /gene_synonym="LABH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1141..1420
                     /gene="ABHD1"
                     /gene_synonym="LABH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1395..1400
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABHD1"
                     /gene_synonym="LABH1"
                     /note="hexamer: ATTAAA"
     polyA_site      1420
                     /gene="ABHD1"
                     /gene_synonym="LABH1"
                     /note="major polyA site"
ORIGIN      
        1 agcagcgcaa actgcctgca gcggggaccg gacctgcaca ggccgcctat ggcgggcggc
       61 gggtgggacc gcgagttaca gccggccaac tggggccagc caggagcctg agggtcggaa
      121 gcccccaaca caagatgctg agctccttcc tgagccccca gaatggcacc tgggcagaca
      181 ccttctctct gctcttggct cttgccgttg ccctctactt gggctactac tgggcatgtg
      241 tgcttcagag gcctcggctg gtggctgggc cgcagtttct ggccttcctg gagccacact
      301 gttccatcac caccgagact ttctacccaa cgctgtggtg ttttgagggg cgactacaaa
      361 gcatcttcca agtcctcctg cagtctcagc ccctagtcct ttatcagagt gacatcctcc
      421 aaacaccaga tggaggccag ctcctgctag actgggccaa gcagcctgac agcagccaag
      481 accctgatcc tactacccag cccattgtgc tgctgcttcc tggcatcact ggcagtagcc
      541 aggagacata cgtcttgcac ctagttaacc aagctctgag ggatggctac caggctgtcg
      601 tgtttaacaa ccggggctgc cgtggggagg aactgcggac ccacagggct ttttgtgcca
      661 gcaatactga agatctagag acagtcgtga accacataaa gcatcgttat ccccaagctc
      721 cactgctggc cgtgggcatc tcttttggag ggatactggt gctgaatcac ctggcacagg
      781 ccaggcaggc tgcagggctg gtggcagcac tgactctgtc tgcatgctgg gattcctttg
      841 agaccactcg ctccctggaa accccactca actcactgct cttcaatcag cccctcactg
      901 ctgggctctg ccaacttgtg gaacgaaaca gaaaggtgat tgaaaaggtg gtggacatag
      961 actttgtact acaggcccgt acaatccgcc agtttgatga gcgctacaca tctgtggcct
     1021 ttggatatca agactgtgtt acctactaca aagcagcaag ccctagaacc aagatagatg
     1081 ccatccggat ccctgtgctc tatctcagtg cagcagatga ccccttctcc cccgtctgtg
     1141 cccttcccat acaggccgcc caacactccc cctacgttgc gctgctcatc acagcccggg
     1201 gtggccacat cggcttcctg gaagggctgc tcccgtggca gcactggtac atgagccgcc
     1261 tcttgcatca gtacgccaaa gccatcttcc aggacccaga ggggctgcct gacctcaggg
     1321 ctctcttacc ttctgaggac agaaacagct gacaagagta ccatttgggg tctcagttca
     1381 ctctttcctt gtttattaaa tatcaacttt tcctgcctaa
//
