LOCUS       NM_014324               4108 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens alpha-methylacyl-CoA racemase (AMACR), transcript
            variant 1, mRNA.
ACCESSION   NM_014324
VERSION     NM_014324.6
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 4108)
  AUTHORS   Rotterova,P., Alaghehbandan,R., Skopal,J., Rogala,J.,
            Slisarenko,M., Strakova Peterikova,A., Michalova,K., Montiel,D.P.,
            Farcas,M., Ulamec,M., Stransky,P. Jr., Fiala,O., Pitra,T., Hora,M.,
            Michal,M., Pivovarcikova,K. and Hes,O.
  TITLE     Alpha-methyl CoA racemase (AMACR) reactivity across the spectrum of
            clear cell renal cell neoplasms
  JOURNAL   Ann Diagn Pathol 71, 152297 (2024)
   PUBMED   38579443
  REMARK    GeneRIF: Alpha-methyl CoA racemase (AMACR) reactivity across the
            spectrum of clear cell renal cell neoplasms.
REFERENCE   2  (bases 1 to 4108)
  AUTHORS   Lerner,G., Tang,H., Singh,K., Golestani,R., St Claire,S.,
            Humphrey,P.A., Lannin,D., Janostiak,R. and Harigopal,M.
  TITLE     AMACR Expression is a Potential Diagnostic Marker in Apocrine
            Lesions of Breast, and is Associated with High Histologic Grade and
            Lymph Node Metastases in Some Invasive Apocrine Breast Cancers
  JOURNAL   Clin Breast Cancer 23 (2), 199-210 (2023)
   PUBMED   36577560
  REMARK    GeneRIF: AMACR Expression is a Potential Diagnostic Marker in
            Apocrine Lesions of Breast, and is Associated with High Histologic
            Grade and Lymph Node Metastases in Some Invasive Apocrine Breast
            Cancers.
REFERENCE   3  (bases 1 to 4108)
  AUTHORS   Chen,W., Wu,W., Zhao,J., Yu,C., Liu,W., Jiang,A. and Zhang,J.
  TITLE     Molecular cloning and preliminary analysis of the human
            alpha-methylacyl-CoA racemase promoter
  JOURNAL   Mol Biol Rep 36 (3), 423-430 (2009)
   PUBMED   18080842
  REMARK    GeneRIF: promoter function of AMACR is independent of androgen
            receptor-mediated signaling
REFERENCE   4  (bases 1 to 4108)
  AUTHORS   Mubiru,J.N., Shen-Ong,G.L., Valente,A.J. and Troyer,D.A.
  TITLE     Alternative spliced variants of the alpha-methylacyl-CoA racemase
            gene and their expression in prostate cancer
  JOURNAL   Gene 327 (1), 89-98 (2004)
   PUBMED   14960364
REFERENCE   5  (bases 1 to 4108)
  AUTHORS   Rubin,M.A., Zhou,M., Dhanasekaran,S.M., Varambally,S.,
            Barrette,T.R., Sanda,M.G., Pienta,K.J., Ghosh,D. and
            Chinnaiyan,A.M.
  TITLE     alpha-Methylacyl coenzyme A racemase as a tissue biomarker for
            prostate cancer
  JOURNAL   JAMA 287 (13), 1662-1670 (2002)
   PUBMED   11926890
  REMARK    GeneRIF: AMACR was shown to be overexpressed in prostate cancer
REFERENCE   6  (bases 1 to 4108)
  AUTHORS   Ferdinandusse,S., Denis,S., IJlst,L., Dacremont,G., Waterham,H.R.
            and Wanders,R.J.
  TITLE     Subcellular localization and physiological role of
            alpha-methylacyl-CoA racemase
  JOURNAL   J Lipid Res 41 (11), 1890-1896 (2000)
   PUBMED   11060359
REFERENCE   7  (bases 1 to 4108)
  AUTHORS   Amery,L., Fransen,M., De Nys,K., Mannaerts,G.P. and Van
            Veldhoven,P.P.
  TITLE     Mitochondrial and peroxisomal targeting of 2-methylacyl-CoA
            racemase in humans
  JOURNAL   J Lipid Res 41 (11), 1752-1759 (2000)
   PUBMED   11060344
REFERENCE   8  (bases 1 to 4108)
  AUTHORS   Ferdinandusse,S., Denis,S., Clayton,P.T., Graham,A., Rees,J.E.,
            Allen,J.T., McLean,B.N., Brown,A.Y., Vreken,P., Waterham,H.R. and
            Wanders,R.J.
  TITLE     Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA
            racemase cause adult-onset sensory motor neuropathy
  JOURNAL   Nat Genet 24 (2), 188-191 (2000)
   PUBMED   10655068
REFERENCE   9  (bases 1 to 4108)
  AUTHORS   Schmitz,W., Albers,C., Fingerhut,R. and Conzelmann,E.
  TITLE     Purification and characterization of an alpha-methylacyl-CoA
            racemase from human liver
  JOURNAL   Eur J Biochem 231 (3), 815-822 (1995)
   PUBMED   7649182
REFERENCE   10 (bases 1 to 4108)
  AUTHORS   Amendola,M. and Squires,J.E.
  TITLE     Pediatric Genetic Cholestatic Liver Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36108118
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC139783.3 and AA969512.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014324.5.
            
            Summary: This gene encodes a racemase. The encoded enzyme
            interconverts pristanoyl-CoA and C27-bile acylCoAs between their
            (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers
            is necessary for degradation of these substrates by peroxisomal
            beta-oxidation. Encoded proteins from this locus localize to both
            mitochondria and peroxisomes. Mutations in this gene may be
            associated with adult-onset sensorimotor neuropathy, pigmentary
            retinopathy, and adrenomyeloneuropathy due to defects in bile acid
            synthesis. Alternatively spliced transcript variants have been
            described. Read-through transcription also exists between this gene
            and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor
            related protein 3) gene. [provided by RefSeq, Mar 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes isoform 1, also referred to as AMACR IA.
            
            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 :: SRR1803614.198374.1,
                                           SRR1803616.183681.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 11060344; reported by
                                                  MitoCarta
            MANE Ensembl match                 :: ENST00000335606.11/
                                                  ENSP00000334424.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-278               AC139783.3         117622-117899       c
            279-422             AC139783.3         115605-115748       c
            423-583             AC139783.3         114423-114583       c
            584-770             AC139783.3         108490-108676       c
            771-3066            AC139783.3         97056-99351         c
            3067-3287           AA969512.1         4-224               c
            3288-4108           AC139783.3         96014-96834         c
FEATURES             Location/Qualifiers
     source          1..4108
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.2"
     gene            1..4108
                     /gene="AMACR"
                     /gene_synonym="AMACRD; CBAS4; P504S; RACE; RM"
                     /note="alpha-methylacyl-CoA racemase"
                     /db_xref="GeneID:23600"
                     /db_xref="HGNC:HGNC:451"
                     /db_xref="MIM:604489"
     exon            1..278
                     /gene="AMACR"
                     /gene_synonym="AMACRD; CBAS4; P504S; RACE; RM"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..1180
                     /gene="AMACR"
                     /gene_synonym="AMACRD; CBAS4; P504S; RACE; RM"
                     /EC_number="5.1.99.4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     2-methylacyl-CoA racemase"
                     /codon_start=1
                     /product="alpha-methylacyl-CoA racemase isoform 1"
                     /protein_id="NP_055139.4"
                     /db_xref="CCDS:CCDS3902.1"
                     /db_xref="GeneID:23600"
                     /db_xref="HGNC:HGNC:451"
                     /db_xref="MIM:604489"
                     /translation="MALQGISVVELSGLAPGPFCAMVLADFGARVVRVDRPGSRYDVS
                     RLGRGKRSLVLDLKQPRGAAVLRRLCKRSDVLLEPFRRGVMEKLQLGPEILQRENPRL
                     IYARLSGFGQSGSFCRLAGHDINYLALSGVLSKIGRSGENPYAPLNLLADFAGGGLMC
                     ALGIIMALFDRTRTGKGQVIDANMVEGTAYLSSFLWKTQKLSLWEAPRGQNMLDGGAP
                     FYTTYRTADGEFMAVGAIEPQFYELLIKGLGLKSDELPNQMSMDDWPEMKKKFADVFA
                     EKTKAEWCQIFDGTDACVTPVLTFEEVVHHDHNKERGSFITSEEQDVSPRPAPLLLNT
                     PAIPSFKRDPFIGEHTEEILEEFGFSREEIYQLNSDKIIESNKVKASL"
     exon            279..422
                     /gene="AMACR"
                     /gene_synonym="AMACRD; CBAS4; P504S; RACE; RM"
                     /inference="alignment:Splign:2.1.0"
     exon            423..583
                     /gene="AMACR"
                     /gene_synonym="AMACRD; CBAS4; P504S; RACE; RM"
                     /inference="alignment:Splign:2.1.0"
     exon            584..770
                     /gene="AMACR"
                     /gene_synonym="AMACRD; CBAS4; P504S; RACE; RM"
                     /inference="alignment:Splign:2.1.0"
     exon            771..4108
                     /gene="AMACR"
                     /gene_synonym="AMACRD; CBAS4; P504S; RACE; RM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1585..1590
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMACR"
                     /gene_synonym="AMACRD; CBAS4; P504S; RACE; RM"
                     /note="hexamer: GATAAA"
     polyA_site      1606
                     /gene="AMACR"
                     /gene_synonym="AMACRD; CBAS4; P504S; RACE; RM"
                     /note="major polyA site"
     regulatory      1961..1966
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMACR"
                     /gene_synonym="AMACRD; CBAS4; P504S; RACE; RM"
                     /note="hexamer: AATAAA"
     polyA_site      1983
                     /gene="AMACR"
                     /gene_synonym="AMACRD; CBAS4; P504S; RACE; RM"
                     /note="major polyA site"
     regulatory      3254..3259
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMACR"
                     /gene_synonym="AMACRD; CBAS4; P504S; RACE; RM"
                     /note="hexamer: AATAAT"
     regulatory      3263..3268
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMACR"
                     /gene_synonym="AMACRD; CBAS4; P504S; RACE; RM"
                     /note="hexamer: AATAAA"
     polyA_site      3271
                     /gene="AMACR"
                     /gene_synonym="AMACRD; CBAS4; P504S; RACE; RM"
     polyA_site      3287
                     /gene="AMACR"
                     /gene_synonym="AMACRD; CBAS4; P504S; RACE; RM"
     regulatory      4088..4093
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMACR"
                     /gene_synonym="AMACRD; CBAS4; P504S; RACE; RM"
                     /note="hexamer: TATAAA"
     polyA_site      4108
                     /gene="AMACR"
                     /gene_synonym="AMACRD; CBAS4; P504S; RACE; RM"
ORIGIN      
        1 agtttccttc agcggggcac tgggaagcgc catggcactg cagggcatct cggtcgtgga
       61 gctgtccggc ctggccccgg gcccgttctg tgctatggtc ctggctgact tcggggcgcg
      121 tgtggtacgc gtggaccggc ccggctcccg ctacgacgtg agccgcttgg gccggggcaa
      181 gcgctcgcta gtgctggacc tgaagcagcc gcggggagcc gccgtgctgc ggcgtctgtg
      241 caagcggtcg gatgtgctgc tggagccctt ccgccgcggt gtcatggaga aactccagct
      301 gggcccagag attctgcagc gggaaaatcc aaggcttatt tatgccaggc tgagtggatt
      361 tggccagtca ggaagcttct gccggttagc tggccacgat atcaactatt tggctttgtc
      421 aggtgttctc tcaaaaattg gcagaagtgg tgagaatccg tatgccccgc tgaatctcct
      481 ggctgacttt gctggtggtg gccttatgtg tgcactgggc attataatgg ctctttttga
      541 ccgcacacgc actggcaagg gtcaggtcat tgatgcaaat atggtggaag gaacagcata
      601 tttaagttct tttctgtgga aaactcagaa attgagtctg tgggaagcac ctcgaggaca
      661 gaacatgttg gatggtggag cacctttcta tacgacttac aggacagcag atggggaatt
      721 catggctgtt ggagcaatag aaccccagtt ctacgagctg ctgatcaaag gacttggact
      781 aaagtctgat gaacttccca atcagatgag catggatgat tggccagaaa tgaagaagaa
      841 gtttgcagat gtatttgcag agaagacgaa ggcagagtgg tgtcaaatct ttgacggcac
      901 agatgcctgt gtgactccgg ttctgacttt tgaggaggtt gttcatcatg atcacaacaa
      961 ggaacggggc tcgtttatca ccagtgagga gcaggacgtg agcccccgcc ctgcacctct
     1021 gctgttaaac accccagcca tcccttcttt caaaagggat cctttcatag gagaacacac
     1081 tgaggagata cttgaagaat ttggattcag ccgcgaagag atttatcagc ttaactcaga
     1141 taaaatcatt gaaagtaata aggtaaaagc tagtctctaa cttccaggcc cacggctcaa
     1201 gtgaatttga atactgcatt tacagtgtag agtaacacat aacattgtat gcatggaaac
     1261 atggaggaac agtattacag tgtcctacca ctctaatcaa gaaaagaatt acagactctg
     1321 attctacagt gatgattgaa ttctaaaaat ggttatcatt agggcttttg atttataaaa
     1381 ctttgggtac ttatactaaa ttatggtagt tattctgcct tccagtttgc ttgatatatt
     1441 tgttgatatt aagattcttg acttatattt tgaatgggtt ctagtgaaaa aggaatgata
     1501 tattcttgaa gacatcgata tacatttatt tacactcttg attctacaat gtagaaaatg
     1561 aggaaatgcc acaaattgta tggtgataaa agtcacgtga aacagagtga ttggttgcat
     1621 ccaggccttt tgtcttggtg ttcatgatct ccctctaagc acattccaaa ctttagcaac
     1681 agttatcaca ctttgtaatt tgcaaagaaa agtttcacct gtattgaatc agaatgcctt
     1741 caactgaaaa aaacatatcc aaaataatga ggaaatgtgt tggctcacta cgtagagtcc
     1801 agagggacag tcagttttag ggttgcctgt atccagtaac tcggggcctg tttccccgtg
     1861 ggtctctggg ctgtcagctt tcctttctcc atgtgtttga tttctcctca ggctggtagc
     1921 aagttctgga tcttataccc aacacacagc aacatccaga aataaagatc tcaggacccc
     1981 ccagcaagtc gttttgtgtc tccttggact gagttaagtt acaagccttt cttatacctg
     2041 tctttgacaa agaagacggg attgtcttta cataaaacca gcctgctcct ggagcttccc
     2101 tggactcaac ttcctaaagg catgtgagga aggggtagat tccacaatct aatccgggtg
     2161 ccatcagagt agagggagta gagaatggat gttgggtagg ccatcaataa ggtccattct
     2221 gcgcagtatc tcaactgccg ttcaacaatc gcaagaggaa ggtggagcag gtttcttcat
     2281 cttacagttg agaaaacaga gactcagaag ggcttcttag ttcatgtttc ccttagcgcc
     2341 tcagtgattt tttcatggtg gcttaggcca aaagaaatat ctaaccattc aatttataaa
     2401 taattaggtc cccaacgaat taaatattat gtcctaccaa cttattagct gcttgaaaaa
     2461 tataatacac ataaataaaa aaatatattt ttcatttcta tttcattgtt aatcacaact
     2521 acttactaag gagatgtatg cacctattgg acactgtgca acttctcacc tggaatgaga
     2581 ttggacactg ctgccctcat tttctgctcc atgttggtgt ccatatagta cttgattttt
     2641 tatcagatgg cctggaaaac ccagtctcac aaaaatatga aattatcaga aggattatag
     2701 tgcaatctta tgttgaaaga atgaactacc tcactagtag ttcacgtgat gtctgacaga
     2761 tgttgagttt cattgtgttt gtgtgttcaa atttttaaat attctgagat actcttgtga
     2821 ggtcactcta atgccctggg tgccttggca cagttttaga aataccagtt gaaaatattt
     2881 gctcaggaat atgcaactag gaaggggcag aatcagaatt taagctttca tattctagcc
     2941 ttcagtcttg ttcttcaacc atttttagga actttcccat aaggttatgt tttccagccc
     3001 aggcatggag gatcacttga ggccaagagt tcgagaccag cctggggaac ttggctggac
     3061 ctccgtttct acgaaataaa aataaaaaaa ttatccaggt atggtggtgt gtgcctgtag
     3121 tcctatctac tcaagggtgg ggcaggagga tcacttgagc ccaggaattt gaggccacag
     3181 tgaattagga ttgcaccact gcactctagc ccaggcaaca gaacaagaac ctgtctctaa
     3241 ataaataaat aaaaataata ataataaaaa agatgttttc cctacaactc agacttttca
     3301 tttgaactcg gtccagcaag gaaaatataa cccactcgaa gtctttaaaa cagaggaaat
     3361 ttaatataaa gaattccact ggtgacgaaa gagcagagaa gcccagaaga tagtgaggca
     3421 accctgatag gaacataact aggaagccaa gaccactcct atggttgcag gggtgatggg
     3481 aaagctggtg tacttggacc cagaagccaa agttgctgca cccaccttgg agacatagac
     3541 actggcagta atacctcagg gagaagaaag aaatctaggg aaatatcctg gcttctttcc
     3601 ttctctctct cccctagtct tcctaccagt gtctcccatt agccaaatct acctagaagc
     3661 cagaaaacaa gggaaccctg gaaatgtagc cccataagat aaagagcacc aaaggaaata
     3721 gatctgagca gacaggcagc acaaaatgca gtgtgtatgg tttattcact cagtaattcc
     3781 tttagcaaat gtttattgag gatctactag gtgccaggta tcatgatact tgctggggat
     3841 accataatga acaaaacaga cctgttctcc gctcttgagg aaatcaaaga caaacacagg
     3901 atatggaata aacccagaat tatctcattg taaaatgtgt taagtaccac gaggagaaat
     3961 atcagggcga tctgacacag ctaatgattt gaagaagggt gtgacctgcc accattttaa
     4021 atctagttat ttcactcctg agctgtgtgt gtggaaaact tgtagtaaaa aatagaatgt
     4081 ctatatttat aaaaagttta tgaaaaga
//
