LOCUS       NM_001042406            2449 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens 3-hydroxy-3-methylglutaryl-CoA lyase like 1 (HMGCLL1),
            transcript variant 2, mRNA.
ACCESSION   NM_001042406
VERSION     NM_001042406.2
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 2449)
  AUTHORS   Arnedo,M., Menao,S., Puisac,B., Teresa-Rodrigo,M.E.,
            Gil-Rodriguez,M.C., Lopez-Vinas,E., Gomez-Puertas,P., Casals,N.,
            Casale,C.H., Hegardt,F.G. and Pie,J.
  TITLE     Characterization of a novel HMG-CoA lyase enzyme with a dual
            location in endoplasmic reticulum and cytosol
  JOURNAL   J Lipid Res 53 (10), 2046-2056 (2012)
   PUBMED   22847177
  REMARK    GeneRIF: there are nine mature transcripts for the novel gene
            HMGCLL1
REFERENCE   2  (bases 1 to 2449)
  AUTHORS   Montgomery,C., Pei,Z., Watkins,P.A. and Miziorko,H.M.
  TITLE     Identification and characterization of an extramitochondrial human
            3-hydroxy-3-methylglutaryl-CoA lyase
  JOURNAL   J Biol Chem 287 (40), 33227-33236 (2012)
   PUBMED   22865860
  REMARK    GeneRIF: analysis of HMGCLL1 as an extramitochondrial human
            3-hydroxy-3-methylglutaryl-CoA lyase and comparison with MHGCL
REFERENCE   3  (bases 1 to 2449)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   4  (bases 1 to 2449)
  AUTHORS   Mitchell,G.A., Robert,M.F., Hruz,P.W., Wang,S., Fontaine,G.,
            Behnke,C.E., Mende-Mueller,L.M., Schappert,K., Lee,C., Gibson,K.M.,
            Miziorko,H.M. et al.
  TITLE     3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human
            and chicken liver HL cDNAs and characterization of a mutation
            causing human HL deficiency
  JOURNAL   J Biol Chem 268 (6), 4376-4381 (1993)
   PUBMED   8440722
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA508472.1, BC024194.2, AL137605.1, AL590406.6 and AF131827.1.
            
            On Feb 27, 2020 this sequence version replaced NM_001042406.1.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 1. It encodes
            isoform b, which is shorter than isoform a.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.3472570.1,
                                           SRR14038196.2054831.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467146 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000274901.9/ ENSP00000274901.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-97                DA508472.1         22-118
            98-125              BC024194.2         1-28
            126-434             AL137605.1         7-315
            435-1392            BC024194.2         338-1295
            1393-2401           AL590406.6         22305-23313         c
            2402-2449           AF131827.1         1817-1864
FEATURES             Location/Qualifiers
     source          1..2449
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.1"
     gene            1..2449
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /note="3-hydroxy-3-methylglutaryl-CoA lyase like 1"
                     /db_xref="GeneID:54511"
                     /db_xref="HGNC:HGNC:21359"
                     /db_xref="MIM:619050"
     exon            1..245
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /inference="alignment:Splign:2.1.0"
     CDS             138..1160
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /EC_number="4.1.3.4"
                     /note="isoform b is encoded by transcript variant 2;
                     3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1;
                     probable 3-hydroxymethyl-3-methylglutaryl-CoA lyase 2;
                     3-hydroxymethyl-3-methylglutaryl-CoA lyase L1;
                     3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic;
                     3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1;
                     endoplasmic reticulum and cytosol HMG-CoA lyase;
                     3-hydroxymethyl-3-methylglutaryl-CoA lyase-like protein 1;
                     endoplasmic reticulum 3-hydroxymethyl-3-methylglutaryl-CoA
                     lyase; 3-hydroxymethyl-3-methylglutaryl-CoA lyase,
                     cytoplasmic; 3-hydroxy-3-methylglutaryl-CoA lyase-like
                     protein 1; endoplasmic reticulum
                     3-hydroxy-3-methylglutaryl-CoA lyase; HMGCL-like 1"
                     /codon_start=1
                     /product="3-hydroxymethyl-3-methylglutaryl-CoA lyase,
                     cytoplasmic isoform b"
                     /protein_id="NP_001035865.1"
                     /db_xref="CCDS:CCDS43474.1"
                     /db_xref="GeneID:54511"
                     /db_xref="HGNC:HGNC:21359"
                     /db_xref="MIM:619050"
                     /translation="MGNVPSAVKHCLSYQQLLREHLWIGDSVAGALDPAQETSQLSGL
                     PEFVKIVEVGPRDGLQNEKVIVPTDIKIEFINRLSQTGLSVIEVTSFVSSRWVPQMAD
                     HTEVMKGIHQYPGVRYPVLTPNLQGFHHAVAAGATEISVFGAASESFSKKNINCSIEE
                     SMGKFEEVVKSARHMNIPARGYVSCALGCPYEGSITPQKVTEVSKRLYGMGCYEISLG
                     DTIGVGTPGSMKRMLESVMKEIPPGALAVHCHDTYGQALANILTALQMGINVVDSAVS
                     GLGGCPYAKGASGNVATEDLIYMLNGLGLNTGVNLYKVMEAGDFICKAVNKTTNSKVA
                     QASFNA"
     exon            246..326
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /inference="alignment:Splign:2.1.0"
     exon            327..434
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /inference="alignment:Splign:2.1.0"
     exon            435..530
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /inference="alignment:Splign:2.1.0"
     exon            531..679
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /inference="alignment:Splign:2.1.0"
     exon            680..743
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /inference="alignment:Splign:2.1.0"
     exon            744..932
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /inference="alignment:Splign:2.1.0"
     exon            933..1058
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /inference="alignment:Splign:2.1.0"
     exon            1059..2449
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1369..1374
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /note="hexamer: AATAAA"
     polyA_site      1403
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
     regulatory      2425..2430
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /note="hexamer: AATAAA"
     regulatory      2431..2436
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /note="hexamer: AATAAA"
     polyA_site      2445
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /note="major polyA site"
     polyA_site      2449
                     /gene="HMGCLL1"
                     /gene_synonym="bA418P12.1; er-cHL; ERCHL"
                     /note="major polyA site"
ORIGIN      
        1 gcagaacagc tctggtcctc acagccagtg caccggaggg gcgcgctccc gagctggcgc
       61 agtttcccag cgcggtgccc gcccctcatc ctcctccagt ctccctcccc tcgccgactg
      121 ccgccccagg ctccgccatg gggaatgtgc catccgcggt gaagcactgc ctcagctacc
      181 agcagcttct ccgggagcat ctctggatcg gggattcagt ggcaggggcg ctcgaccccg
      241 cgcaggaaac atcccagtta tctggactcc ctgagtttgt taaaatagta gaagttgggc
      301 ctagggatgg attgcagaat gaaaaggtta tagttcctac agatataaaa attgaattta
      361 tcaatcgact ttcccaaact ggcttgtctg taatagaagt gactagcttt gtgtcttcca
      421 gatgggtacc acagatggct gatcacactg aagtaatgaa aggcattcat caatatccag
      481 gagttcgcta tcctgtcctt actcctaatc ttcagggttt tcaccatgct gttgctgctg
      541 gagctactga gatatcagtt tttggagctg catctgaatc ctttagcaag aagaatatta
      601 actgttccat tgaagaaagt atgggaaaat ttgaggaggt tgttaagtct gcaagacaca
      661 tgaatattcc agcacgaggg tatgtgtctt gtgctctggg ctgtccatat gaaggaagta
      721 ttacaccgca aaaagtgaca gaagtgtcta agagattgta cggcatgggt tgttatgaga
      781 tctctctagg agacacaatt ggagtgggaa ctccaggaag tatgaaaaga atgttggaaa
      841 gtgtgatgaa agaaatccca ccaggtgctc ttgctgttca ctgtcatgac acatacggac
      901 aagccttagc aaatatcctt acggcccttc agatgggaat taatgtggtg gactccgcag
      961 tatccggatt aggtggctgc ccttatgcaa aaggtgcttc tgggaatgta gccactgagg
     1021 atttgatata tatgcttaat ggcctggggc tcaatacagg tgtgaatcta tacaaagtga
     1081 tggaagctgg tgactttatt tgcaaagctg tgaataaaac cacaaactct aaagtagcac
     1141 aagcctcctt caatgcttga cttgaatgga tttatgacgt accgttgaga agatcaattt
     1201 cagctacaat actcatctga aaatcattaa tgccaacttg ctctgatatg tgaagtaatg
     1261 gacaagagtg ggaaaaaaga gatccttttc aaaaagatta taactggata gattaagtca
     1321 acaaaatgca atatcagtca tcaggtaaat tgcaagctga ggataaataa taaaacttgt
     1381 cataattttg aacttggaaa aaagtttctt ttgctctcat agaaataact ttttaattta
     1441 gtagatggga aaattgactt cgtatttccc caagtatcaa atactgtgtt aatacttaat
     1501 caagcaggct taacactgtg tacatattgt cagtagttta tgagctcctg catagtatgc
     1561 agagtgtgtg gcctcaatat tatacattat gcctctggat ctcaactact catttgccaa
     1621 gtcagttatg ttatggacca aaagccaaat ctccatctga ccctacataa ttttagcaat
     1681 agaactttta tatttcaagt atggctaaca tctgttaact atttcagtga ctttatctgg
     1741 ttccaagagg ctgtggccaa tggcaagatg ccatatcctg gaaacatatt acgacctccc
     1801 atgtttgtta catgcatcca gtttaccaca ctttacctgt catcagttat agtaaaaacc
     1861 agcatggtgt tactcaacta ttgagaaatt gtaagctatt tttttttgtc ctgatgtcta
     1921 aattgcagtg ataagaatag gttgatacat gtatcataat ctacctttat aattttcaga
     1981 tcactttcaa attgcccaag gaaatattgt gatcctaaga atattaagat aattttaggt
     2041 taatgaaata cccattttcc ttttattcat ggtgctttgc ttacccacat tattttttgg
     2101 tgtatttttt agtggttatt ttagaagttg aagtggctga aattttgtct attgtcttag
     2161 aattgattgc cagaaattgc aagatgtaat atatcaaagt cagggatgag gagcaggagg
     2221 actattcaag ataaacttct gtaacctatg catattttat gggggcagta ttattacaaa
     2281 tggatctgaa atgtcagttc tagtatttag agagacttct ctaataatac cgggtgatat
     2341 tatctttgag taaatttgaa tataaattga aacataaaaa tgagtattgt gaactttcta
     2401 ggaaatattc attaaaacca ttgaaataaa aataaattca agaaagtaa
//
