LOCUS       NM_019885               4556 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens cytochrome P450 family 26 subfamily B member 1
            (CYP26B1), transcript variant 1, mRNA.
ACCESSION   NM_019885
VERSION     NM_019885.4
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 4556)
  AUTHORS   Silveira,K.C., Fonseca,I.C., Oborn,C., Wengryn,P., Ghafoor,S.,
            Beke,A., Dreseris,E.S., Wong,C., Iacovone,A., Soltys,C.L.,
            Babul-Hirji,R., Artigalas,O., Antolini-Tavares,A., Gingras,A.C.,
            Campos,E., Cavalcanti,D.P. and Kannu,P.
  TITLE     CYP26B1-related disorder: expanding the ends of the spectrum
            through clinical and molecular evidence
  JOURNAL   Hum Genet 142 (11), 1571-1586 (2023)
   PUBMED   37755482
  REMARK    GeneRIF: CYP26B1-related disorder: expanding the ends of the
            spectrum through clinical and molecular evidence.
REFERENCE   2  (bases 1 to 4556)
  AUTHORS   Sarma,A.S., Peter Mathew,R., Dalal,A., Bhat,V. and Patil,S.J.
  TITLE     Familial monoallelic CYP26B1 truncating variant causes a syndromic
            craniosynostosis due to haploinsufficiency ?
  JOURNAL   Eur J Med Genet 66 (7), 104772 (2023)
   PUBMED   37100236
  REMARK    GeneRIF: Familial monoallelic CYP26B1 truncating variant causes a
            syndromic craniosynostosis due to haploinsufficiency ?
REFERENCE   3  (bases 1 to 4556)
  AUTHORS   Niu,S., Shi,K., Yue,X., Pan,M., Song,L., Gu,L., Tan,Y., Miao,X.,
            Tian,J. and Chang,J.
  TITLE     A variant in CYP26B1 associated with esophageal squamous cell
            carcinoma risk by affecting retinoic acid metabolism
  JOURNAL   Mol Carcinog 62 (7), 991-1000 (2023)
   PUBMED   37042568
  REMARK    GeneRIF: A variant in CYP26B1 associated with esophageal squamous
            cell carcinoma risk by affecting retinoic acid metabolism.
REFERENCE   4  (bases 1 to 4556)
  AUTHORS   Khosasih,V., Liu,K.M., Huang,C.M., Liou,L.B., Hsieh,M.S., Lee,C.H.,
            Tsai,C.Y., Kuo,S.Y., Hwa,S.Y., Yu,C.L., Chang,C.H., Lin,C.J.,
            Hsieh,S.C., Cheng,C.Y., Chen,W.M., Chen,L.K., Chuang,H.P.,
            Chen,Y.T., Tsai,P.C., Lu,L.S., H'ng,W.S., Zhang,Y., Chen,H.C.,
            Chen,C.H., Lee,M.T.M. and Wu,J.Y.
  TITLE     A Functional Polymorphism Downstream of Vitamin A Regulator Gene
            CYP26B1 Is Associated with Hand Osteoarthritis
  JOURNAL   Int J Mol Sci 24 (3), 3021 (2023)
   PUBMED   36769350
  REMARK    GeneRIF: A Functional Polymorphism Downstream of Vitamin A
            Regulator Gene CYP26B1 Is Associated with Hand Osteoarthritis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4556)
  AUTHORS   Elmabsout,A.A., Kumawat,A., Saenz-Mendez,P., Krivospitskaya,O.,
            Savenstrand,H., Olofsson,P.S., Eriksson,L.A., Strid,A., Valen,G.,
            Torma,H. and Sirsjo,A.
  TITLE     Cloning and functional studies of a splice variant of CYP26B1
            expressed in vascular cells
  JOURNAL   PLoS One 7 (5), e36839 (2012)
   PUBMED   22666329
  REMARK    GeneRIF: Vascular cells express the spliced variant of CYP26B1
            lacking exon 2 and it is also increased in atherosclerotic lesions
REFERENCE   6  (bases 1 to 4556)
  AUTHORS   Taimi,M., Helvig,C., Wisniewski,J., Ramshaw,H., White,J., Amad,M.,
            Korczak,B. and Petkovich,M.
  TITLE     A novel human cytochrome P450, CYP26C1, involved in metabolism of
            9-cis and all-trans isomers of retinoic acid
  JOURNAL   J Biol Chem 279 (1), 77-85 (2004)
   PUBMED   14532297
REFERENCE   7  (bases 1 to 4556)
  AUTHORS   Trofimova-Griffin,M.E. and Juchau,M.R.
  TITLE     Developmental expression of cytochrome CYP26B1 (P450RAI-2) in human
            cephalic tissues
  JOURNAL   Brain Res Dev Brain Res 136 (2), 175-178 (2002)
   PUBMED   12101034
  REMARK    GeneRIF: CYP26B1 mRNA levels were approximately twice the level in
            adult cerebellum compared to adult whole brain samples. CYP26B1
            levels were 10x higher in earlier gestational times than in later
            gestational times.
REFERENCE   8  (bases 1 to 4556)
  AUTHORS   Abu-Abed,S., MacLean,G., Fraulob,V., Chambon,P., Petkovich,M. and
            Dolle,P.
  TITLE     Differential expression of the retinoic acid-metabolizing enzymes
            CYP26A1 and CYP26B1 during murine organogenesis
  JOURNAL   Mech Dev 110 (1-2), 173-177 (2002)
   PUBMED   11744378
  REMARK    GeneRIF: Mouse studies identified different expression patterns of
            the retinoic acid-metabolizing enzymes CYP26A1 and CYP26B1 during
            development.
REFERENCE   9  (bases 1 to 4556)
  AUTHORS   White,J.A., Ramshaw,H., Taimi,M., Stangle,W., Zhang,A.,
            Everingham,S., Creighton,S., Tam,S.P., Jones,G. and Petkovich,M.
  TITLE     Identification of the human cytochrome P450, P450RAI-2, which is
            predominantly expressed in the adult cerebellum and is responsible
            for all-trans-retinoic acid metabolism
  JOURNAL   Proc Natl Acad Sci U S A 97 (12), 6403-6408 (2000)
   PUBMED   10823918
REFERENCE   10 (bases 1 to 4556)
  AUTHORS   Nelson,D.R.
  TITLE     A second CYP26 P450 in humans and zebrafish: CYP26B1
  JOURNAL   Arch Biochem Biophys 371 (2), 345-347 (1999)
   PUBMED   10545224
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007002.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 21, 2020 this sequence version replaced NM_019885.3.
            
            Summary: This gene encodes a member of the cytochrome P450
            superfamily. The cytochrome P450 proteins are monooxygenases which
            catalyze many reactions involved in drug metabolism and synthesis
            of cholesterol, steroids and other lipids. The encoded protein is
            localized to the endoplasmic reticulum, and functions as a critical
            regulator of all-trans retinoic acid levels by the specific
            inactivation of all-trans retinoic acid to hydroxylated forms.
            Mutations in this gene are associated with radiohumeral fusions and
            other skeletal and craniofacial anomalies, and increased levels of
            the encoded protein are associated with atherosclerotic lesions.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Apr 2013].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: AF252297.1, SRR14038196.3132215.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000001146.7/ ENSP00000001146.2
            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
            1-232               AC007002.3         121057-121288       c
            233-457             AC007002.3         117415-117639       c
            458-733             AC007002.3         108570-108845       c
            734-889             AC007002.3         108187-108342       c
            890-1174            AC007002.3         106449-106733       c
            1175-4556           AC007002.3         102664-106045       c
FEATURES             Location/Qualifiers
     source          1..4556
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.2"
     gene            1..4556
                     /gene="CYP26B1"
                     /gene_synonym="CYP26A2; P450RAI-2; P450RAI2; RHFCA"
                     /note="cytochrome P450 family 26 subfamily B member 1"
                     /db_xref="GeneID:56603"
                     /db_xref="HGNC:HGNC:20581"
                     /db_xref="MIM:605207"
     exon            1..232
                     /gene="CYP26B1"
                     /gene_synonym="CYP26A2; P450RAI-2; P450RAI2; RHFCA"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..1567
                     /gene="CYP26B1"
                     /gene_synonym="CYP26A2; P450RAI-2; P450RAI2; RHFCA"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cytochrome P450 retinoid metabolizing protein; cytochrome
                     P450 26B1; retinoic acid-metabolizing cytochrome;
                     cytochrome P450, subfamily XXVIB, polypeptide 1;
                     cytochrome P450 retinoic acid-inactivating 2; cytochrome
                     P450, family 26, subfamily B, polypeptide 1; cytochrome
                     P450 family 26 subfamily A member 1"
                     /codon_start=1
                     /product="cytochrome P450 26B1 isoform 1"
                     /protein_id="NP_063938.1"
                     /db_xref="CCDS:CCDS1919.1"
                     /db_xref="GeneID:56603"
                     /db_xref="HGNC:HGNC:20581"
                     /db_xref="MIM:605207"
                     /translation="MLFEGLDLVSALATLAACLVSVTLLLAVSQQLWQLRWAATRDKS
                     CKLPIPKGSMGFPLIGETGHWLLQGSGFQSSRREKYGNVFKTHLLGRPLIRVTGAENV
                     RKILMGEHHLVSTEWPRSTRMLLGPNTVSNSIGDIHRNKRKVFSKIFSHEALESYLPK
                     IQLVIQDTLRAWSSHPEAINVYQEAQKLTFRMAIRVLLGFSIPEEDLGHLFEVYQQFV
                     DNVFSLPVDLPFSGYRRGIQARQILQKGLEKAIREKLQCTQGKDYLDALDLLIESSKE
                     HGKEMTMQELKDGTLELIFAAYATTASASTSLIMQLLKHPTVLEKLRDELRAHGILHS
                     GGCPCEGTLRLDTLSGLRYLDCVIKEVMRLFTPISGGYRTVLQTFELDGFQIPKGWSV
                     MYSIRDTHDTAPVFKDVNVFDPDRFSQARSEDKDGRFHYLPFGGGVRTCLGKHLAKLF
                     LKVLAVELASTSRFELATRTFPRITLVPVLHPVDGLSVKFFGLDSNQNEILPETEAML
                     SATV"
     exon            233..457
                     /gene="CYP26B1"
                     /gene_synonym="CYP26A2; P450RAI-2; P450RAI2; RHFCA"
                     /inference="alignment:Splign:2.1.0"
     exon            458..733
                     /gene="CYP26B1"
                     /gene_synonym="CYP26A2; P450RAI-2; P450RAI2; RHFCA"
                     /inference="alignment:Splign:2.1.0"
     exon            734..889
                     /gene="CYP26B1"
                     /gene_synonym="CYP26A2; P450RAI-2; P450RAI2; RHFCA"
                     /inference="alignment:Splign:2.1.0"
     exon            890..1174
                     /gene="CYP26B1"
                     /gene_synonym="CYP26A2; P450RAI-2; P450RAI2; RHFCA"
                     /inference="alignment:Splign:2.1.0"
     exon            1175..4556
                     /gene="CYP26B1"
                     /gene_synonym="CYP26A2; P450RAI-2; P450RAI2; RHFCA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4537..4542
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP26B1"
                     /gene_synonym="CYP26A2; P450RAI-2; P450RAI2; RHFCA"
                     /note="hexamer: AATAAA"
     polyA_site      4556
                     /gene="CYP26B1"
                     /gene_synonym="CYP26A2; P450RAI-2; P450RAI2; RHFCA"
                     /note="major polyA site"
ORIGIN      
        1 acagccaatc ccccgagcgg ccgccaacat gctctttgag ggcttggatc tggtgtcggc
       61 gctggccacc ctcgccgcgt gcctggtgtc cgtgacgctg ctgctggccg tgtcgcagca
      121 gctgtggcag ctgcgctggg ccgccactcg cgacaagagc tgcaagctgc ccatccccaa
      181 gggatccatg ggcttcccgc tcatcggaga gaccggccac tggctgctgc agggttctgg
      241 cttccagtcg tcgcggaggg agaagtatgg caacgtgttc aagacgcatt tgttggggcg
      301 gccgctgata cgcgtgaccg gcgcggagaa cgtgcgcaag atcctcatgg gcgagcacca
      361 cctcgtgagc accgagtggc ctcgcagcac ccgcatgttg ctgggcccca acacggtgtc
      421 caattccatt ggcgacatcc accgcaacaa gcgcaaggtc ttctccaaga tcttcagcca
      481 cgaggccctg gagagttacc tgcccaagat ccagctggtg atccaggaca cactgcgcgc
      541 ctggagcagc caccccgagg ccatcaacgt gtaccaggag gcgcagaagc tgaccttccg
      601 catggccatc cgggtgctgc tgggcttcag catccctgag gaggaccttg ggcacctctt
      661 tgaggtctac cagcagtttg tggacaatgt cttctccctg cctgtcgacc tgcccttcag
      721 tggctaccgg cggggcattc aggctcggca gatcctgcag aaggggctgg agaaggccat
      781 ccgggagaag ctgcagtgca cacagggcaa ggactacttg gacgccctgg acctcctcat
      841 tgagagcagc aaggagcacg ggaaggagat gaccatgcag gagctgaagg acgggaccct
      901 ggagctgatc tttgcggcct atgccaccac ggccagcgcc agcacctcac tcatcatgca
      961 gctgctgaag caccccactg tgctggagaa gctgcgggat gagctgcggg ctcatggcat
     1021 cctgcacagt ggcggctgcc cctgcgaggg cacactgcgc ctggacacgc tcagtgggct
     1081 gcgctacctg gactgcgtca tcaaggaggt catgcgcctg ttcacgccca tttccggcgg
     1141 ctaccgcact gtgctgcaga ccttcgagct tgatggtttc cagatcccca aaggctggag
     1201 tgtcatgtat agcatccggg acacccatga cacagcgccc gtgttcaaag acgtgaacgt
     1261 gttcgacccc gatcgcttca gccaggcgcg gagcgaggac aaggatggcc gcttccatta
     1321 cctcccgttc ggtggcggtg tccggacctg cctgggcaag cacctggcca agctgttcct
     1381 gaaggtgctg gcggtggagc tggctagcac cagccgcttt gagctggcca cacggacctt
     1441 cccccgcatc accttggtcc ccgtcctgca ccccgtggat ggcctcagcg tcaagttctt
     1501 tggcctggac tccaaccaga acgagatcct gccggagacg gaggccatgc tgagcgccac
     1561 agtctaaccc aagacccacc cgcctcagcc cagcccaggc agcggggtgg tggttgtggg
     1621 aggtagaaac ctgtgtgtgg gagggggccg gaacggggag ggcgagtggc ccccatactt
     1681 gccctccctt gctccccctc cctggcaaac cctacccaaa gccagtgggc cccattccta
     1741 gggctgggct ccccttctgg ctccagcttc cctccagcca ctccccattt accatcagct
     1801 cagcccctgg gaagggcgtg gcaggggctc tgcatgcccg tgacagtgtt aggtgtcagc
     1861 gcgtgctaca gtgtttttgt gatgttctga actgctccct tccctccgtt cctttcggac
     1921 ccttttagct ggggttgggg gacgggaaga gccgtgcccc cttgggcgca ctcttcagcg
     1981 tctcctcctc ctgcgccccc actgcgtctg cccaggaaca gcatcctggg tagcagaaca
     2041 ggagtcaacc ttggcggggc gggggctgcg tccaacctgg agattgccct tccctatgcc
     2101 acggttccca ccctccctca ccagtttgga caatttgaaa ttacctattg ctgctacttg
     2161 ttctgtcctc tgaccttggg gcaaaggagc cccaggccct gtctccccag catcctccct
     2221 ggtggccctg ggcaggtgca ctgacacccc caccttccca tcccctgctg aaccaggccc
     2281 tgttacacac agccgcctaa ggcccgcggc tcatgtgctg cccgccccca tatttattca
     2341 ctgatagaga atcttgggga tgctggggtc tggagtgaac atctcctccc cttcatgccc
     2401 tagcctgtgt tctagctgtc ctggcgagac ttctgtgagt gaagaggaag gggtctctgg
     2461 tcaaacccag cccccagggc ctagggttga aagccttccc cggctccggg cattatttgg
     2521 gtttaatctc ggagcctcac tcctggactg aagtccggtg cctctgcctt atccctggtg
     2581 gagatggaat gtggcccatt gcctcctccc tctcctgtca aaaaccctga tcaggtagat
     2641 ttggaggcgg ccacgatttc ctgtttggcc cctgttcacc ccagtgcact ggccctgact
     2701 ccaggcgtga gtatggggaa ggatacgggt tcttctgacg gggagcaagg gcctccgtct
     2761 tcccttcctt aactctcccc ctttgccctc cgccctgaaa aaggtgtcct tgaagtccct
     2821 tccacctcta tgccactgtc tgcttagccc agctcagggg tggggaagag gcgaaagcgt
     2881 gggggaggtg agcgcagcgg cagttctgcc tcggagctga ttgcagggcc ctgtgtggtc
     2941 tccggacagc tgcgggaagg ctgccgcagc tgaagctgaa gaggcggcta cgtgcggttt
     3001 gtcaggggga ttgggttgaa aactggccag tcgggatgac tgggtgaaag aggagtagct
     3061 cctgccactg gcgttttgag tgttggcaat ttgggatgcc tcctggggaa ggtttccggg
     3121 cgtttggtga gtctctagat ttttccttgc tttctgtgtt tattggtttt tgatgttgta
     3181 aaagcaatga atccccttta caagaaaatc gaaaacacag aagaatgaag gacatgccag
     3241 tccccgatcg ctgctgtgag cacctcagtg gctccctcag accagatccc gtaggcagcc
     3301 ccacagaccg accctgaccc cactcacagc caccctgaag atagactata ggaacgggcc
     3361 cataccacac agactgctct ccaatccctg agtctcagat gtttcattta tttcctactt
     3421 ttccactact aaaaaacagt gtggaataga cattattggc aaaattgctc atccctaatc
     3481 ctgaaaaaca ggccagaatg ggtaaagact tgtcaaagct tgcaacatag ctacatggtg
     3541 cacccggacc tgtaccccct ccccccaaca caaaaccagt gtctgggagg ttcattttcc
     3601 tttaaactga tccagctggc cctgaaccaa ttgtttttga ctgagtatct aggagagcag
     3661 taagtggaac ttcagacaag cccactgggt ctggtccagg tgaggggcag ggggcatggg
     3721 gctgggaggt ctcaggggcc ttccctgggg gtggccagcc tggtaggggg cagagaagga
     3781 aaagctgagg ggggtccctg tgagggagga aagaaggatc atttgccccg ctgggtctca
     3841 aaggcagtga gaagagagct gaagaaagct ctggctggct gacaggatcc ctgtgttgta
     3901 attggtccct cctttcagct ctctagtgag atgcccgtgt ctgtgcgtgt gcgtgtgtgt
     3961 ttcatacagc tagcattaga tgggtgatgt ttcttactta tcatccctaa ctattgcaac
     4021 ttgaccttaa aaagacaaaa ccccacaaaa ctcttcctgc cacgggcttg cagattgaag
     4081 cactttcgat gttgggcgct ggcgtttgtg ttctgggcac caccgtgacc ctgcccagat
     4141 ggctataata ttattttata cacaaacctt ttttttcata aatgttataa ttttgtgtct
     4201 gtctttataa actattataa gtactatttt tgttataatt caaaatagat atttagtata
     4261 aagtttttgc tgttaaatat ttgttattta gtaaaatatg aattttgctc tattgtaaac
     4321 atggttcaaa atattaatat gtttttatca cagtcgtttt aatattgaaa aagcacttgt
     4381 gtgttttgtt ttgatatgaa actggtaccg tgtgagtgtt tttgctgtcg tggttttaat
     4441 ctgtatataa tattccatgt tgcatattaa aaacatgaat gttgtgcatt ttgtgatttt
     4501 ggaaatactc aatgtggctc ttctataggc ttctagaata aaccgtgggg acccgc
//
