LOCUS       NM_006844               2305 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens ilvB acetolactate synthase like (ILVBL), mRNA.
ACCESSION   NM_006844
VERSION     NM_006844.5
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 2305)
  AUTHORS   Mori,K., Naganuma,T. and Kihara,A.
  TITLE     Role of 2-hydroxy acyl-CoA lyase HACL2 in odd-chain fatty acid
            production via alpha-oxidation in vivo
  JOURNAL   Mol Biol Cell 34 (9), ar85 (2023)
   PUBMED   37285239
REFERENCE   2  (bases 1 to 2305)
  AUTHORS   Chang,H.S., Park,J.S., Lee,H.S., Lyu,J., Son,J.H., Choi,I.S.,
            Shin,H.D. and Park,C.S.
  TITLE     Association analysis of ILVBL gene polymorphisms with
            aspirin-exacerbated respiratory disease in asthma
  JOURNAL   BMC Pulm Med 17 (1), 210 (2017)
   PUBMED   29246216
  REMARK    GeneRIF: To the best of our knowledge, this is the first report of
            an association between single nucleotide polymorphisms (SNPs) on
            ILVBL and aspirin-exacerbated respiratory disease (AERD) . SNPs on
            ILVBL could be promising genetic markers of this condition.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2305)
  AUTHORS   Kitamura,T., Seki,N. and Kihara,A.
  TITLE     Phytosphingosine degradation pathway includes fatty acid
            alpha-oxidation reactions in the endoplasmic reticulum
  JOURNAL   Proc Natl Acad Sci U S A 114 (13), E2616-E2623 (2017)
   PUBMED   28289220
REFERENCE   4  (bases 1 to 2305)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   5  (bases 1 to 2305)
  AUTHORS   Joutel,A., Ducros,A., Alamowitch,S., Cruaud,C., Domenga,V.,
            Marechal,E., Vahedi,K., Chabriat,H., Bousser,M.G. and
            Tournier-Lasserve,E.
  TITLE     A human homolog of bacterial acetolactate synthase genes maps
            within the CADASIL critical region
  JOURNAL   Genomics 38 (2), 192-198 (1996)
   PUBMED   8954801
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY011076.1, BC011722.2,
            BC011761.2 and BM676342.1.
            
            On Nov 22, 2018 this sequence version replaced NM_006844.4.
            
            Summary: The protein encoded by this gene shares similarity with
            several thiamine pyrophosphate-binding proteins identified in
            bacteria, yeast, and plants. The highest degree of similarity is
            found with bacterial acetolactate synthases (AHAS), which are
            enzymes that catalyze the first step in branched-chain amino acid
            biosynthesis. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.594954.1,
                                           SRR1803613.168523.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148093, SAMEA2153733
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263383.8/ ENSP00000263383.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                HY011076.1         14-33
            21-1175             BC011722.2         1-1155
            1176-1260           BC011761.2         1082-1166
            1261-2074           BC011722.2         1241-2054
            2075-2305           BM676342.1         30-260              c
FEATURES             Location/Qualifiers
     source          1..2305
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.12"
     gene            1..2305
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /note="ilvB acetolactate synthase like"
                     /db_xref="GeneID:10994"
                     /db_xref="HGNC:HGNC:6041"
                     /db_xref="MIM:605770"
     exon            1..131
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /inference="alignment:Splign:2.1.0"
     exon            132..276
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /inference="alignment:Splign:2.1.0"
     CDS             142..2040
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /EC_number="2.2.1.-"
                     /note="acetolactate synthase homolog; acetolactate
                     synthase-like protein; ilvB-like protein; ilvB (bacterial
                     acetolactate synthase)-like; 2-hydroxyacyl-CoA lyase 1
                     like"
                     /codon_start=1
                     /product="2-hydroxyacyl-CoA lyase 2"
                     /protein_id="NP_006835.2"
                     /db_xref="CCDS:CCDS12325.1"
                     /db_xref="GeneID:10994"
                     /db_xref="HGNC:HGNC:6041"
                     /db_xref="MIM:605770"
                     /translation="METPAAAAPAGSLFPSFLLLACGTLVAALLGAAHRLGLFYQLLH
                     KVDKASVRHGGENVAAVLRAHGVRFIFTLVGGHISPLLVACEKLGIRVVDTRHEVTAV
                     FAADAMARLSGTVGVAAVTAGPGLTNTVTAVKNAQMAQSPILLLGGAASTLLQNRGAL
                     QAVDQLSLFRPLCKFCVSVRRVRDIVPTLRAAMAAAQSGTPGPVFVELPVDVLYPYFM
                     VQKEMVPAKPPKGLVGRVVSWYLENYLANLFAGAWEPQPEGPLPLDIPQASPQQVQRC
                     VEILSRAKRPLMVLGSQALLTPTSADKLRAAVETLGVPCFLGGMARGLLGRNHPLHIR
                     ENRSAALKKADVIVLAGTVCDFRLSYGRVLSHSSKIIIVNRNREEMLLNSDIFWKPQE
                     AVQGDVGSFVLKLVEGLQGQTWAPDWVEELREADRQKEQTFREKAAMPVAQHLNPVQV
                     LQLVEETLPDNSILVVDGGDFVGTAAHLVQPRGPLRWLDPGAFGTLGVGAGFALGAKL
                     CRPDAEVWCLFGDGAFGYSLIEFDTFVRHKIPVMALVGNDAGWTQISREQVPSLGSNV
                     ACGLAYTDYHKAAMGLGARGLLLSRENEDQVVKVLHDAQQQCRDGHPVVVNILIGRTD
                     FRDGSIAV"
     exon            277..478
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /inference="alignment:Splign:2.1.0"
     exon            479..606
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /inference="alignment:Splign:2.1.0"
     exon            607..745
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /inference="alignment:Splign:2.1.0"
     exon            746..857
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /inference="alignment:Splign:2.1.0"
     exon            858..957
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /inference="alignment:Splign:2.1.0"
     exon            958..1055
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /inference="alignment:Splign:2.1.0"
     exon            1056..1192
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /inference="alignment:Splign:2.1.0"
     exon            1193..1327
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /inference="alignment:Splign:2.1.0"
     exon            1328..1442
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /inference="alignment:Splign:2.1.0"
     exon            1443..1612
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /inference="alignment:Splign:2.1.0"
     exon            1613..1683
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /inference="alignment:Splign:2.1.0"
     exon            1684..1755
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /inference="alignment:Splign:2.1.0"
     exon            1756..1861
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /inference="alignment:Splign:2.1.0"
     exon            1862..2305
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2272..2277
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /note="hexamer: AATAAA"
     polyA_site      2305
                     /gene="ILVBL"
                     /gene_synonym="209L8; AHAS; HACL1L; HACL2; ILV2H"
                     /note="major polyA site"
ORIGIN      
        1 atgcgcatcg ggccggacta cggggcgccg ctgagccaag tgggccaccc gggcacggcc
       61 acgctcccgg gtcacgtgac acggaggggg ccgaattctg ctggaggcag cgccatatcc
      121 tggaggtgaa ggtaccacct catggagacc cccgcggccg ccgcccccgc tgggagctta
      181 ttcccctcct tcctgctcct ggcctgcggg acgctggtgg ccgccttgct gggcgccgct
      241 caccgcctgg ggctcttcta tcagctgctg cacaaggtgg acaaggcaag cgtccggcat
      301 ggcggagaga acgtggccgc tgtgctgagg gcccatggtg tgcggttcat cttcacgctg
      361 gtcggtgggc acatttcccc gctgctggtg gcctgtgaga aactgggcat ccgtgtggtg
      421 gacacacgcc atgaggtcac ggccgtcttt gctgctgatg ctatggcccg cctgtccggg
      481 acggtgggcg tggcggcagt gacagcaggc cctggcctca ccaacacggt gactgcggtg
      541 aagaatgctc agatggctca gtccccaatc ctgcttctgg gtggggctgc cagcactctg
      601 ctgcagaacc ggggtgcgct ccaggctgtt gatcagctgt cccttttccg gccactctgt
      661 aagttttgtg tgtctgtgcg gagggtgcgg gacattgtgc ccaccctgag ggccgcgatg
      721 gctgccgccc agtcgggcac cccaggtccg gtgtttgtgg agctgcccgt tgacgtgctg
      781 tacccctact tcatggtcca gaaggagatg gtgccagcca agccacccaa gggcctcgtg
      841 ggccgagtgg tctcctggta tttagagaat tacctggcca acctctttgc aggagcctgg
      901 gagcctcagc ccgagggacc gctgcccctg gacatccccc aggcttcccc gcagcaggtt
      961 cagcgctgtg tggagatcct gagccgggcc aagaggcctc tgatggtgct ggggagtcag
     1021 gccctgctca ccccaacgtc tgccgacaag cttcgggctg ccgtggagac cttgggtgtt
     1081 ccctgcttcc ttggagggat ggcacggggg ctgttaggcc gcaaccaccc cctccacatc
     1141 cgggagaacc gcagtgcggc cctgaagaag gcggatgtca ttgtcctagc aggaactgtg
     1201 tgtgacttcc gcctatccta tggccgtgtc ctcagccaca gcagcaagat catcatcgtc
     1261 aatcgtaatc gggaagagat gttgctcaac tcagacatct tctggaagcc ccaggaggct
     1321 gtgcagggag atgtgggttc cttcgtgctg aagttagtgg agggccttca gggccagacc
     1381 tgggccccag actgggtgga ggagctgcgg gaagccgacc ggcagaagga gcagaccttt
     1441 cgggagaagg cagcgatgcc tgtggcccag cacctgaacc cagtgcaggt gctgcagctg
     1501 gtggaggaaa cgctacctga caactcaatt ctggtggtgg atggcgggga cttcgtgggc
     1561 actgctgccc atctggtaca gccccgcggc cccctgcgct ggctcgatcc tggggccttt
     1621 gggactctgg gagttggtgc aggatttgca cttggggcca agctgtgccg gccagatgct
     1681 gaggtctggt gcctgtttgg ggacggagct tttggctaca gcctcatcga atttgataca
     1741 ttcgtcagac acaagatccc agtgatggcc ttggtaggga atgatgctgg ctggacacag
     1801 atttctcggg agcaggtgcc ctctctgggc agcaacgtgg cctgtggcct ggcctacact
     1861 gattatcaca aggcagccat gggtctgggg gcccggggct tgctgctctc acgggagaac
     1921 gaggatcagg tggtcaaggt gctgcacgat gcccagcagc agtgccgaga cggccacccg
     1981 gttgtggtca acatcctcat tgggaggacg gacttccgcg atggctccat tgctgtatag
     2041 ggccttgtgg gtcaggacgc ttggctgcct tcctgcccct ggactgtgtc cagctggttt
     2101 ggagtctcat cattgcttgc cctgggccta tcccatgagg cccagtgact ccacaacctc
     2161 cctgaggagg ggatggaggg gtcaaatctc agagaggctc tcttgtgagc tcttggaccc
     2221 tcctcttcac ggacccaact gtgccgtttg tcccctctct tatggagact gaataaacca
     2281 cctctggccc atgtaggccc aagta
//
