LOCUS       NM_001206673            1815 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens abhydrolase domain containing 12B (ABHD12B),
            transcript variant 1, mRNA.
ACCESSION   NM_001206673
VERSION     NM_001206673.2
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 1815)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL358334.3 and AY311396.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001206673.1.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY311396.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000337334.7/ ENSP00000336693.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-107               AL358334.3         157722-157828       c
            108-1815            AY311396.1         1-1708
FEATURES             Location/Qualifiers
     source          1..1815
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q22.1"
     gene            1..1815
                     /gene="ABHD12B"
                     /gene_synonym="BEM46L3; C14orf29; c14_5314"
                     /note="abhydrolase domain containing 12B"
                     /db_xref="GeneID:145447"
                     /db_xref="HGNC:HGNC:19837"
     exon            1..226
                     /gene="ABHD12B"
                     /gene_synonym="BEM46L3; C14orf29; c14_5314"
                     /inference="alignment:Splign:2.1.0"
     CDS             123..1211
                     /gene="ABHD12B"
                     /gene_synonym="BEM46L3; C14orf29; c14_5314"
                     /note="isoform a is encoded by transcript variant 1;
                     abhydrolase domain-containing protein 12B; alpha/beta
                     hydrolase domain-containing protein 12B; protein ABHD12B"
                     /codon_start=1
                     /product="protein ABHD12B isoform a"
                     /protein_id="NP_001193602.1"
                     /db_xref="CCDS:CCDS55916.1"
                     /db_xref="GeneID:145447"
                     /db_xref="HGNC:HGNC:19837"
                     /translation="MDAQDCQAAASPEPPGPPARSCVAAWWDMVDRNLRYFPHSCSML
                     GRKIAALYDSFTSKSLKEHVFLPLIDMLIYFNFFKAPFLVDLKKPELKIPHTVNFYLR
                     VEPGVMLGIWHTVPSCRGEDAKGKDCCWYEAALRDGNPIIVYLHGSAEHRAASHRLKL
                     VKVLSDGGFHVLSVDYRGFGDSTGKPTEEGLTTDAICVYEWTKARSGITPVCLWGHSL
                     GTGVATNAAKVLEEKGCPVDAIVLEAPFTNMWVASINYPLLKIYRNIPGFLRTLMDAL
                     RKDKIIFPNDENVKFLSSPLLILHGEDDRTVPLEYGKKLYEIARNAYRNKERVKMVIF
                     PPGFQHNLLCKSPTLLITVRDFLSKQWS"
     exon            227..354
                     /gene="ABHD12B"
                     /gene_synonym="BEM46L3; C14orf29; c14_5314"
                     /inference="alignment:Splign:2.1.0"
     exon            355..457
                     /gene="ABHD12B"
                     /gene_synonym="BEM46L3; C14orf29; c14_5314"
                     /inference="alignment:Splign:2.1.0"
     exon            458..577
                     /gene="ABHD12B"
                     /gene_synonym="BEM46L3; C14orf29; c14_5314"
                     /inference="alignment:Splign:2.1.0"
     exon            578..608
                     /gene="ABHD12B"
                     /gene_synonym="BEM46L3; C14orf29; c14_5314"
                     /inference="alignment:Splign:2.1.0"
     exon            609..654
                     /gene="ABHD12B"
                     /gene_synonym="BEM46L3; C14orf29; c14_5314"
                     /inference="alignment:Splign:2.1.0"
     exon            655..784
                     /gene="ABHD12B"
                     /gene_synonym="BEM46L3; C14orf29; c14_5314"
                     /inference="alignment:Splign:2.1.0"
     exon            785..822
                     /gene="ABHD12B"
                     /gene_synonym="BEM46L3; C14orf29; c14_5314"
                     /inference="alignment:Splign:2.1.0"
     exon            823..902
                     /gene="ABHD12B"
                     /gene_synonym="BEM46L3; C14orf29; c14_5314"
                     /inference="alignment:Splign:2.1.0"
     exon            903..985
                     /gene="ABHD12B"
                     /gene_synonym="BEM46L3; C14orf29; c14_5314"
                     /inference="alignment:Splign:2.1.0"
     exon            986..1064
                     /gene="ABHD12B"
                     /gene_synonym="BEM46L3; C14orf29; c14_5314"
                     /inference="alignment:Splign:2.1.0"
     exon            1065..1183
                     /gene="ABHD12B"
                     /gene_synonym="BEM46L3; C14orf29; c14_5314"
                     /inference="alignment:Splign:2.1.0"
     exon            1184..1815
                     /gene="ABHD12B"
                     /gene_synonym="BEM46L3; C14orf29; c14_5314"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1790..1795
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ABHD12B"
                     /gene_synonym="BEM46L3; C14orf29; c14_5314"
                     /note="hexamer: AATAAA"
     polyA_site      1815
                     /gene="ABHD12B"
                     /gene_synonym="BEM46L3; C14orf29; c14_5314"
                     /note="major polyA site"
ORIGIN      
        1 agcctgcctg accgcgcgga ggaggagggc gggcgcggtg ccgccggggc gggaaggtcg
       61 cgggcggctg ctccggactg cagctcccgc ggcggtggcg gcgtatcggg acacggcgcg
      121 ggatggacgc gcaggactgc caggcggccg catcgcccga gccgcccggg cccccagccc
      181 gtagctgcgt ggccgcctgg tgggacatgg tcgaccgcaa cctgcgatat tttccacact
      241 cctgttcaat gctcggaaga aaaattgctg ctctgtatga cagctttact agtaaatcct
      301 taaaagaaca cgttttcctt cctctgatag acatgctaat ttattttaat tttttcaaag
      361 ccccatttct tgtggattta aagaaaccag agttaaagat tcctcacaca gtgaacttct
      421 acctgagagt tgaacctggg gtgatgctag ggatctggca cacagtcccc agctgccggg
      481 gggaagatgc caaggggaag gactgttgct ggtatgaagc agcccttcgt gatgggaacc
      541 caattattgt ttatcttcat ggcagtgcag aacacagggc agcttcgcac agactgaagc
      601 tggtaaaggt gctgagtgat ggtggctttc atgtcttgtc tgttgactac agaggatttg
      661 gggactctac aggtaagccc acagaggagg gactgactac ggatgccatt tgtgtctatg
      721 agtggaccaa ggcaagaagt ggcatcactc ccgtgtgtct ctggggccac tctctgggta
      781 caggagttgc aacaaatgct gcaaaagtgc tagaagaaaa aggatgccca gttgatgcta
      841 ttgtcttgga agctccattt accaacatgt gggttgcaag tatcaattat cccttgttaa
      901 agatttaccg gaacattcca ggatttttac gtacacttat ggatgccctg agaaaagaca
      961 aaataatctt tcctaatgat gaaaatgtta aattcctttc ttctcctctt ctcatcttac
     1021 atggagagga tgacaggaca gtgcctttgg agtatgggaa aaagctctat gaaattgcac
     1081 gcaatgcata caggaacaaa gagagggtca agatggttat ctttcctcct ggcttccaac
     1141 acaacctgct ttgtaaaagc cccacactgt taataaccgt gagagatttc ctgagcaagc
     1201 agtggtcatg agtctgggag gagtggaaat cttcaatgaa gacttggccc aaacaccacc
     1261 tgtgatgtat attgttctaa tgtaaaattg tactgggctg gtcggatgag ctgaggccat
     1321 tgacttctct acaaatcact tgccatttta acaacagaaa gtacgaatgt taggcagtat
     1381 ggaatgttct tatttagctt atcataatct actttgtaaa acatgctgaa acctcactgt
     1441 ggagaaccag aatttggtaa aatctagatc ctatctaaaa atatgtagtt attaaacatt
     1501 ctgtggatat ttgtgaataa ggtagttgct atggtccgaa tatctgggcc tgccccccca
     1561 aattatgctg aaacctaatc accagtgtga tggtaatagg aggtgggact gagctctgat
     1621 gaatgagatt agtgccctta taaattatga ccaaaagagc tcttcactcc tcctaccatt
     1681 tgaggataca gtgagaagcc ttcatctatg aaccacaaag tagccctcat cagacactga
     1741 atcagccagt gccttgctct tggacttccc agcccccaga actgtgagaa ataaatttct
     1801 gttgtttata agcta
//
