LOCUS       NM_001367502            5082 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens cytochrome P450 family 27 subfamily C member 1
            (CYP27C1), transcript variant 3, mRNA.
ACCESSION   NM_001367502 XM_017003960
VERSION     NM_001367502.1
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 5082)
  AUTHORS   Mo,H.Y., Wei,Q.Y., Zhong,Q.H., Zhao,X.Y., Guo,D., Han,J.,
            Noracharttiyapot,W., Visser,L., van den Berg,A., Xu,Y.M. and
            Lau,A.T.Y.
  TITLE     Cytochrome P450 27C1 Level Dictates Lung Cancer Tumorigenicity and
            Sensitivity towards Multiple Anticancer Agents and Its Potential
            Interplay with the IGF-1R/Akt/p53 Signaling Pathway
  JOURNAL   Int J Mol Sci 23 (14), 7853 (2022)
   PUBMED   35887201
  REMARK    GeneRIF: Cytochrome P450 27C1 Level Dictates Lung Cancer
            Tumorigenicity and Sensitivity towards Multiple Anticancer Agents
            and Its Potential Interplay with the IGF-1R/Akt/p53 Signaling
            Pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5082)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   3  (bases 1 to 5082)
  AUTHORS   Johnson,K.M., Phan,T.T.N., Albertolle,M.E. and Guengerich,F.P.
  TITLE     Human mitochondrial cytochrome P450 27C1 is localized in skin and
            preferentially desaturates trans-retinol to 3,4-dehydroretinol
  JOURNAL   J Biol Chem 292 (33), 13672-13687 (2017)
   PUBMED   28701464
  REMARK    GeneRIF: Data suggest that the most likely catalytic mechanism for
            conversion of all-trans-retinol to 3,4-dehydroretinol by CYP27C1
            begins with abstraction of a hydrogen atom from C-4 (or possibly
            C-3) initiating desaturation pathway, followed by sequential
            abstraction of a hydrogen atom or proton-coupled electron transfer.
            CYP27C1 appears to be localized to skin.
REFERENCE   4  (bases 1 to 5082)
  AUTHORS   Kramlinger,V.M., Nagy,L.D., Fujiwara,R., Johnson,K.M., Phan,T.T.,
            Xiao,Y., Enright,J.M., Toomey,M.B., Corbo,J.C. and Guengerich,F.P.
  TITLE     Human cytochrome P450 27C1 catalyzes 3,4-desaturation of retinoids
  JOURNAL   FEBS Lett 590 (9), 1304-1312 (2016)
   PUBMED   27059013
REFERENCE   5  (bases 1 to 5082)
  AUTHORS   Munir,M.S., Weng,L.C., Tang,W., Basu,S., Pankow,J.S., Matijevic,N.,
            Cushman,M., Boerwinkle,E. and Folsom,A.R.
  TITLE     Genetic markers associated with plasma protein C level in African
            Americans: the atherosclerosis risk in communities (ARIC) study
  JOURNAL   Genet Epidemiol 38 (8), 709-713 (2014)
   PUBMED   25376901
REFERENCE   6  (bases 1 to 5082)
  AUTHORS   Mosing,M.A., Verweij,K.J., Medland,S.E., Painter,J., Gordon,S.D.,
            Heath,A.C., Madden,P.A., Montgomery,G.W. and Martin,N.G.
  TITLE     A genome-wide association study of self-rated health
  JOURNAL   Twin Res Hum Genet 13 (4), 398-403 (2010)
   PUBMED   20707712
REFERENCE   7  (bases 1 to 5082)
  AUTHORS   Nelson,D.R., Zeldin,D.C., Hoffman,S.M., Maltais,L.J., Wain,H.M. and
            Nebert,D.W.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC110926.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 5, 2018 this sequence version replaced XM_017003960.1.
            
            Summary: This gene encodes a member of the cytochrome P450
            superfamily of enzymes. The cytochrome P450 proteins are
            monooxygenases which catalyze many reactions involved in drug
            metabolism and synthesis of cholesterol, steroids and other lipids.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2147596,
                              SAMEA2156099 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            inferred exon combination        :: based on alignments, homology
            MANE Ensembl match               :: ENST00000664447.2/
                                                ENSP00000499243.1
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression,
                                                longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-311               AC110926.5         92730-93040         c
            312-502             AC110926.5         78641-78831         c
            503-702             AC110926.5         76113-76312         c
            703-912             AC110926.5         73863-74072         c
            913-1076            AC110926.5         72117-72280         c
            1077-1243           AC110926.5         68076-68242         c
            1244-1322           AC110926.5         66530-66608         c
            1323-1526           AC110926.5         65835-66038         c
            1527-5082           AC110926.5         56573-60128         c
FEATURES             Location/Qualifiers
     source          1..5082
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q14.3"
     gene            1..5082
                     /gene="CYP27C1"
                     /note="cytochrome P450 family 27 subfamily C member 1"
                     /db_xref="GeneID:339761"
                     /db_xref="HGNC:HGNC:33480"
                     /db_xref="MIM:620605"
     exon            1..311
                     /gene="CYP27C1"
                     /inference="alignment:Splign:2.1.0"
     CDS             30..1643
                     /gene="CYP27C1"
                     /EC_number="1.14.19.53"
                     /note="isoform 2 is encoded by transcript variant 3;
                     cytochrome P450, family 27, subfamily C, polypeptide 13;
                     cytochrome P450 27C1; all-trans retinol 3,4-desaturase"
                     /codon_start=1
                     /product="cytochrome P450 27C1 isoform 2"
                     /protein_id="NP_001354431.1"
                     /db_xref="CCDS:CCDS92857.1"
                     /db_xref="GeneID:339761"
                     /db_xref="HGNC:HGNC:33480"
                     /db_xref="MIM:620605"
                     /translation="MALLARILRAGLRPAPERGGLLGGGAPRRPQPAGARLPAGARAE
                     DKGAGRPGSPPGGGRAEGPRSLAAMPGPRTLANLAEFFCRDGFSRIHEIQQKHTREYG
                     KIFKSHFGPQFVVSIADRDMVAQVLRAEGAAPQRANMESWREYRDLRGRATGLISAEG
                     EQWLKMRSVLRQRILKPKDVAIYSGEVNQVIADLIKRIYLLRSQAEDGETVTNVNDLF
                     FKYSMEGVATILYESRLGCLENSIPQLTVEYIEALELMFSMFKTSMYAGAIPRWLRPF
                     IPKPWREFCRSWDGLFKFSQIHVDNKLRDIQYQMDRGRRVSGGLLTYLFLSQALTLQE
                     IYANVTEMLLAGVDTTSFTLSWTVYLLARHPEVQQTVYREIVKNLGERHVPTAADVPK
                     VPLVRALLKETLRLFPVLPGNGRVTQEDLVIGGYLIPKGTQLALCHYATSYQDENFPR
                     AKEFRPERWLRKGDLDRVDNFGSIPFGHGVRSCIGRRIAELEIHLVVIQLLQHFEIKT
                     SSQTNAVHAKTHGLLTPGGPIHVRFVNRK"
     exon            312..502
                     /gene="CYP27C1"
                     /inference="alignment:Splign:2.1.0"
     exon            503..702
                     /gene="CYP27C1"
                     /inference="alignment:Splign:2.1.0"
     exon            703..912
                     /gene="CYP27C1"
                     /inference="alignment:Splign:2.1.0"
     exon            913..1076
                     /gene="CYP27C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1077..1243
                     /gene="CYP27C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1244..1322
                     /gene="CYP27C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1323..1526
                     /gene="CYP27C1"
                     /inference="alignment:Splign:2.1.0"
     exon            1527..5082
                     /gene="CYP27C1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5057..5062
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP27C1"
                     /note="hexamer: AATAAA"
     polyA_site      5082
                     /gene="CYP27C1"
                     /note="major polyA site"
ORIGIN      
        1 agacaaacaa gccgatgcag acgagcgcca tggccctgct ggcgcggatc ctgagagccg
       61 ggctgcggcc ggcgcccgag cggggtgggc tcctgggcgg cggggccccg cggcggcctc
      121 aacccgcggg cgcacggctc ccggcggggg cgcgggccga ggacaaaggc gccgggcggc
      181 cggggtcgcc gccgggaggg ggccgagccg agggtccccg gagcctcgcc gccatgccgg
      241 ggccgaggac cctcgccaac ctggcggagt tcttctgcag ggacggcttc agccgcatcc
      301 acgagatcca gcagaagcac acacgggaat atggaaaaat cttcaagtct cactttggtc
      361 ctcagtttgt agtatctatt gcagaccgcg atatggtggc tcaggtgctc cgggcggagg
      421 gcgctgcgcc ccagagagcc aacatggagt cctggcggga gtaccgagac ttgcggggga
      481 gagccaccgg gctcatctcg gcggagggtg aacagtggct caagatgaga agcgtattga
      541 gacaaagaat tctgaaaccg aaagatgtgg ccatttattc tggagaagtc aaccaagtta
      601 ttgctgactt aattaaaaga atctacctcc tcaggagcca ggcagaagat ggagaaaccg
      661 tgaccaatgt caatgatctt ttcttcaaat attcaatgga aggagtggcc accatccttt
      721 atgagagtcg tttgggctgc ctggaaaaca gcatcccaca gctgactgtg gaatacatcg
      781 aggccctgga gctcatgttt agcatgttca agacctccat gtatgcaggc gccatcccca
      841 gatggcttcg ccccttcatc ccaaagccct ggcgggaatt ctgcaggtcc tgggatggac
      901 tcttcaaatt cagccaaatt catgttgaca acaagttgag ggacatacag taccaaatgg
      961 accgaggccg gagggtgagc gggggacttc tcacatacct cttccttagc caggctctga
     1021 cgctgcagga gatctacgcc aacgtgactg agatgctgct ggccggcgtc gacacgacgt
     1081 ccttcacctt gtcttggact gtgtacctcc tggcaaggca cccagaagtg cagcagacgg
     1141 tgtaccggga gattgtgaag aatttagggg aaaggcatgt tccaactgca gctgatgtcc
     1201 ccaaggtccc gctggtcaga gctctcctta aggaaaccct gaggctgttt ccagtgctgc
     1261 cagggaacgg ccgggtcacc caggaagacc tggttattgg cgggtatctg attccgaaag
     1321 gcacccagct ggccctttgc cactatgcca catcgtacca ggatgagaac ttccctcggg
     1381 ccaaggagtt ccggcctgag cgctggctgc ggaaaggaga cttagataga gttgacaatt
     1441 ttggatccat cccctttggt catggggttc gcagctgcat agggcggaga attgcagaac
     1501 tggagattca cctcgtcgtg atccagttgc ttcaacattt tgagatcaaa acatcttctc
     1561 agaccaatgc tgttcatgca aaaacccacg ggctcctgac gccagggggg cccatccacg
     1621 tgcgatttgt taacagaaag taagcctaga ttttaaacct gggctgatgt agcagaccag
     1681 ctcgccgaca cacagtgggt atttgtgttc gctgatcacc gtggagaagg aaagcgatgt
     1741 cgctaaaggc tgtcttgtta tagactggcc tcccaggtcc tgggacactt gtaaatcttt
     1801 atgcaaagta atgtaaaaag gttgctattt tactggtgca taccagaagt tgccctttct
     1861 ttgggggaaa cagctgttta aaaaccagtg gcagtgaatt tttatgcttc atacattgtg
     1921 ctagactcaa tatttaatga ctggcagtat cctgtgcatt tacttgtaca gggaaatggt
     1981 ggtttactta caaattcagt tcttcaatat atgttctcta atactggcat ctgggctcaa
     2041 attgccatca acagtaagtt gaaggcaatt tcaacttact gtttctaatt tgaagaggga
     2101 acattaagaa tgcctctgta atactgtaat tatgggaaga aagcaccaga ggcaacattt
     2161 tatcctgagc accagattta gatcctgtta aagggctcaa acttaaaagg gctggccggg
     2221 tgcggtggct cacgcctgta atcccagcac tttgggaggt caaggtggga ggattgcttg
     2281 agccagaagt tcgagaccag cctgagcaac atggtgaaac cctgtctcta ccaaaaatac
     2341 aaaaattagc cgggcgtggt ggtgcacacc tatggtccta gttactcgga agactgaggc
     2401 aggaggatcg tttgagctca ggaggttggg tctgcagtga gctatctatg atggcaccac
     2461 tgcacttcag cctgggtgac agagtgagac cctttctcaa aaataaaata aaataaaata
     2521 aaataaaata aaataaaata aaatggctgt ataagaatac ttttctctcc acaacgagtg
     2581 cttaattttc tagtcataat gcctaatgaa gttgactatt agtttttatt tggaagaaat
     2641 aaataataaa taaataataa ataaataaaa aagaaagctc ctggtgaaat caagaataat
     2701 cagattttct aaccaaatct aaatacagag tagagcagac gtataagaac tggaaatatg
     2761 atgacgtaaa attttgttgc ctaagttgtg agaagtaata aaacaggcag catggaaaac
     2821 aatgtaactt tagaacattt ttatttcaag ggaaaataaa tacataaata gagatgctac
     2881 agatacaaca atatttttat cttgatggtg ttgttttaaa tatccacaca agaaccctca
     2941 cccagttgtg tgcctgtgcc aggctctctg ggaagccgtg gctccgggag tgctgggtcc
     3001 tgaggagttc tgttgccttt cctgctgctc accggttgct aagaggaaac accgtgattt
     3061 cctgatgctc ttgccttgtc atcatgcctg aaacagctta ttcccaattc tgtaattcct
     3121 tttacataat ccttctccaa aaattacttt cttactaata tagaccatac agtttttttt
     3181 ccatttagta agtcactctg caaaataacc cttaagtaaa tagacataat atccatttca
     3241 cataccattt ttgttaaagt atataataaa gttgaaatct ctgtgtggta gcagaataac
     3301 tctagtatga atgctgtaaa tgtacaggta aatgtgaaat taggtcatat taactggcca
     3361 agtgttggat tgattacttt gaggtagcag tatacgtata ttaagtttta taaactagat
     3421 gaaattgcat tctgtttgag actgaaattt aaaaatattg agaataacta agcgacttga
     3481 agtgacctct tattccctgg gtatacatac agtgtgaccc tctcgtgaag tgtggctctg
     3541 cctggggatc agcacagggt gaatagcaaa gtgcgggctg ggggtagcac ctgtgcccgc
     3601 tgctgagtct cactgaacag gaagggaagc agccagacac gggggcctcc tggtgtgatg
     3661 tagcaggaag tgcagggcgc cacccaggaa gcatccacgc caaagaaatg gagattcagc
     3721 tggacaagtt tctaggttcg ctactggttt ataggaaata tgtggtatac agggagatgt
     3781 caaaactcca tgggggctgg gcgtggtggc tcacacctgt aatttcagca ctctggggag
     3841 gttgaggcag gaggattgct tgaggccagg agtttgagac aagcttgggc aacacagtga
     3901 gatcctgtct actaaaaatc aaaaaactta gctgagtgtg gtggtgcatg cctgtagtcc
     3961 tagctatttg ggaggctgag gctggaggat tgcttaagtc tgggaggttg aggctgcagt
     4021 gagctgtgat ccgccattac actccagcct gggtgacaga gcaagacttc ataacaaaca
     4081 aacacacaaa caaactccat ggggatgcag tcagcaaaat ccagaataga gtgaggtcta
     4141 taggaccaat gtctcgggtt tccaacaaaa caaatacgtg acaggcaaaa aacaagagga
     4201 ggggccaggc gaggtggctc atgcctgtaa tcccagcact ttgggaggcc aaggcgggcg
     4261 gataacctga ggtcaggggt tccagaccag cctggccaac atggtgaaac cccatctcta
     4321 ctaaaaatac agaaattatc caggcatggt ggcgggcttc tgtaattcca gctacttggg
     4381 aggctgaggc aggagaattg cttgaacctg ggaggcagtt tgcagtgagc tgagatcacg
     4441 ccactgcact ccacctgggc aacaagaacg aaactccgta tctaaaaaaa acaaaaacca
     4501 aaaagcaaaa aaaaaaccaa ggggagagga gaactgttac agatgaagca atataggaga
     4561 catattaacc aagtacaatg ctggacttcg tttgaatcag attcaaataa accacttgta
     4621 aaaagacatt taagagataa tttttaaaaa taaaataaaa gccaaaaata ttaattcttc
     4681 caatgcatga aaaaaagaga gcaactcggg gaaatttgaa tgctgactgt gtgtatttga
     4741 tgatatttgg gaattactgt taattttttt gttgtgataa tggtagttat gttttaaaaa
     4801 aagagacttt atctcttgga gatagctctt aaagatataa atgtttatgg ctgaaatgtt
     4861 atggcatctt ggatttgctt taaaataacc cagcttgctg caggaggtgg gtattgtgtg
     4921 tgtgggaagg tggggaggct gcgggaggaa gagatgaccc aagattaggc agatgttgtt
     4981 aactgtggaa gcagggtggt gagtgggggc tcatgacatt atgctctcta ctttgtgtac
     5041 gtgtgaacat ttccgtaata aaagatgcct tcagaaacaa aa
//
