LOCUS       NM_183075               4768 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens cytochrome P450 family 2 subfamily U member 1
            (CYP2U1), mRNA.
ACCESSION   NM_183075 XM_054492
VERSION     NM_183075.3
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 4768)
  AUTHORS   Nouri,K., Pietrancosta,N., Le Corre,L., Dansette,P.M., Mansuy,D.
            and Boucher,J.L.
  TITLE     Human Orphan Cytochrome P450 2U1 Catalyzes the omega-Hydroxylation
            of Leukotriene B4
  JOURNAL   Int J Mol Sci 23 (23), 14615 (2022)
   PUBMED   36498943
  REMARK    GeneRIF: Human Orphan Cytochrome P450 2U1 Catalyzes the
            omega-Hydroxylation of Leukotriene B4.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4768)
  AUTHORS   Leeson,H.C., Goh,D., Coman,D. and Wolvetang,E.J.
  TITLE     Generation of iPSC lines from hereditary spastic paraplegia 56
            (SPG56) patients and family members carrying CYP2U1 mutations
  JOURNAL   Stem Cell Res 64, 102917 (2022)
   PUBMED   36166872
  REMARK    GeneRIF: Generation of iPSC lines from hereditary spastic
            paraplegia 56 (SPG56) patients and family members carrying CYP2U1
            mutations.
REFERENCE   3  (bases 1 to 4768)
  AUTHORS   Pujol,C., Legrand,A., Parodi,L., Thomas,P., Mochel,F., Saracino,D.,
            Coarelli,G., Croon,M., Popovic,M., Valet,M., Villain,N.,
            Elshafie,S., Issa,M., Zuily,S., Renaud,M., Marelli-Tosi,C.,
            Legendre,M., Trimouille,A., Kemlin,I., Mathieu,S., Gleeson,J.G.,
            Lamari,F., Galatolo,D., Alkouri,R., Tse,C., Rodriguez,D.,
            Ewenczyk,C., Fellmann,F., Kuntzer,T., Blond,E., El Hachimi,K.H.,
            Darios,F., Seyer,A., Gazi,A.D., Giavalisco,P., Perin,S.,
            Boucher,J.L., Le Corre,L., Santorelli,F.M., Goizet,C., Zaki,M.S.,
            Picaud,S., Mourier,A., Steculorum,S.M., Mignot,C., Durr,A.,
            Trifunovic,A. and Stevanin,G.
  TITLE     Implication of folate deficiency in CYP2U1 loss of function
  JOURNAL   J Exp Med 218 (11) (2021)
   PUBMED   34546337
  REMARK    GeneRIF: Implication of folate deficiency in CYP2U1 loss of
            function.
REFERENCE   4  (bases 1 to 4768)
  AUTHORS   Bibi,F., Efthymiou,S., Bourinaris,T., Tariq,A., Zafar,F., Rana,N.,
            Salpietro,V., Houlden,H., Raja,G.K., Saeed,S. and Minhas,N.M.
  CONSRTM   SYNaPS Study Group
  TITLE     Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani
            families with spastic paraplegia
  JOURNAL   J Neurol Sci 411, 116669 (2020)
   PUBMED   32006740
  REMARK    GeneRIF: Rare novel CYP2U1 and ZFYVE26 variants identified in two
            Pakistani families with spastic paraplegia.
REFERENCE   5  (bases 1 to 4768)
  AUTHORS   Nelson,D.R.
  TITLE     'Frankenstein genes', or the Mad Magazine version of the human
            pseudogenome
  JOURNAL   Hum Genomics 1 (4), 310-316 (2004)
   PUBMED   15588491
REFERENCE   6  (bases 1 to 4768)
  AUTHORS   Karlgren,M., Backlund,M., Johansson,I., Oscarson,M. and
            Ingelman-Sundberg,M.
  TITLE     Characterization and tissue distribution of a novel human
            cytochrome P450-CYP2U1
  JOURNAL   Biochem Biophys Res Commun 315 (3), 679-685 (2004)
   PUBMED   14975754
REFERENCE   7  (bases 1 to 4768)
  AUTHORS   Chuang,S.S., Helvig,C., Taimi,M., Ramshaw,H.A., Collop,A.H.,
            Amad,M., White,J.A., Petkovich,M., Jones,G. and Korczak,B.
  TITLE     CYP2U1, a novel human thymus- and brain-specific cytochrome P450,
            catalyzes omega- and (omega-1)-hydroxylation of fatty acids
  JOURNAL   J Biol Chem 279 (8), 6305-6314 (2004)
   PUBMED   14660610
  REMARK    GeneRIF: CYP2U1 plays an important physiological role in fatty acid
            signaling processes in both cerebellum and thymus
REFERENCE   8  (bases 1 to 4768)
  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
REFERENCE   9  (bases 1 to 4768)
  AUTHORS   Wistow,G., Bernstein,S.L., Ray,S., Wyatt,M.K., Behal,A.,
            Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of adult human iris for the NEIBank
            Project: steroid-response factors and similarities with retinal
            pigment epithelium
  JOURNAL   Mol Vis 8, 185-195 (2002)
   PUBMED   12107412
  REMARK    Publication Status: Online-Only
REFERENCE   10 (bases 1 to 4768)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC096564.3, BX437421.2,
            AY343323.1, BX354124.2, AK026498.1, CD672608.1, BU838483.1 and
            AC114733.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_183075.2.
            
            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.
            This enzyme is a hydroxylase that metabolizes arachidonic acid,
            docosahexaenoic acid, and other long chain fatty acids. [provided
            by RefSeq, Jul 2008].
            
            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 :: SRR1803611.135482.1,
                                           SRR1803617.264842.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332884.11/ ENSP00000333212.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AC096564.3         144994-145005
            13-62               BX437421.2         193-242
            63-749              AY343323.1         7-693
            750-978             BX354124.2         675-903
            979-2734            AY343323.1         923-2678
            2735-3564           AK026498.1         748-1577
            3565-3805           CD672608.1         395-635
            3806-4352           BU838483.1         85-631
            4353-4764           AK026498.1         2366-2777
            4765-4768           AC114733.4         5586-5589
FEATURES             Location/Qualifiers
     source          1..4768
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q25"
     gene            1..4768
                     /gene="CYP2U1"
                     /gene_synonym="P450TEC; SPG49; SPG56"
                     /note="cytochrome P450 family 2 subfamily U member 1"
                     /db_xref="GeneID:113612"
                     /db_xref="HGNC:HGNC:20582"
                     /db_xref="MIM:610670"
     exon            1..585
                     /gene="CYP2U1"
                     /gene_synonym="P450TEC; SPG49; SPG56"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..1730
                     /gene="CYP2U1"
                     /gene_synonym="P450TEC; SPG49; SPG56"
                     /EC_number="1.14.14.80"
                     /note="spastic paraplegia 49; cytochrome P450, family 2,
                     subfamily U, polypeptide 1; spastic paraplegia 56
                     (autosomal dominant); long-chain fatty acid
                     omega-monooxygenase"
                     /codon_start=1
                     /product="cytochrome P450 2U1"
                     /protein_id="NP_898898.1"
                     /db_xref="CCDS:CCDS34047.1"
                     /db_xref="GeneID:113612"
                     /db_xref="HGNC:HGNC:20582"
                     /db_xref="MIM:610670"
                     /translation="MSSPGPSQPPAEDPPWPARLLRAPLGLLRLDPSGGALLLCGLVA
                     LLGWSWLRRRRARGIPPGPTPWPLVGNFGHVLLPPFLRRRSWLSSRTRAAGIDPSVIG
                     PQVLLAHLARVYGSIFSFFIGHYLVVVLSDFHSVREALVQQAEVFSDRPRVPLISIVT
                     KEKGVVFAHYGPVWRQQRKFSHSTLRHFGLGKLSLEPKIIEEFKYVKAEMQKHGEDPF
                     CPFSIISNAVSNIICSLCFGQRFDYTNSEFKKMLGFMSRGLEICLNSQVLLVNICPWL
                     YYLPFGPFKELRQIEKDITSFLKKIIKDHQESLDRENPQDFIDMYLLHMEEERKNNSN
                     SSFDEEYLFYIIGDLFIAGTDTTTNSLLWCLLYMSLNPDVQEKVHEEIERVIGANRAP
                     SLTDKAQMPYTEATIMEVQRLTVVVPLAIPHMTSENTVLQGYTIPKGTLILPNLWSVH
                     RDPAIWEKPEDFYPNRFLDDQGQLIKKETFIPFGIGKRVCMGEQLAKMELFLMFVSLM
                     QSFAFALPEDSKKPLLTGRFGLTLAPHPFNITISRR"
     exon            586..1221
                     /gene="CYP2U1"
                     /gene_synonym="P450TEC; SPG49; SPG56"
                     /inference="alignment:Splign:2.1.0"
     exon            1222..1383
                     /gene="CYP2U1"
                     /gene_synonym="P450TEC; SPG49; SPG56"
                     /inference="alignment:Splign:2.1.0"
     exon            1384..1551
                     /gene="CYP2U1"
                     /gene_synonym="P450TEC; SPG49; SPG56"
                     /inference="alignment:Splign:2.1.0"
     exon            1552..4768
                     /gene="CYP2U1"
                     /gene_synonym="P450TEC; SPG49; SPG56"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3559..3564
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2U1"
                     /gene_synonym="P450TEC; SPG49; SPG56"
                     /note="hexamer: ATTAAA"
     polyA_site      3581
                     /gene="CYP2U1"
                     /gene_synonym="P450TEC; SPG49; SPG56"
                     /note="major polyA site"
     regulatory      4750..4755
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP2U1"
                     /gene_synonym="P450TEC; SPG49; SPG56"
                     /note="hexamer: ATTAAA"
     polyA_site      4768
                     /gene="CYP2U1"
                     /gene_synonym="P450TEC; SPG49; SPG56"
                     /note="major polyA site"
ORIGIN      
        1 agagcagagc aggacactgg cgccgcgggt caggcagctg cgtgcgcgtc tcctccaggc
       61 agcaagggga acccgaggcc gccggcgccc ggaccatgtc gtctccgggg ccgtcgcagc
      121 cgccggccga ggacccgccc tggcccgcgc gcctcctgcg tgcgcctctg gggctgctgc
      181 ggctggaccc cagcgggggc gcgctgctgc tatgcggcct cgtagcgctg ctgggctgga
      241 gctggctgcg gaggcgccgg gcgcggggca tcccgcccgg gcccacgccc tggcctctgg
      301 tgggcaactt cggtcacgtg ctgctgcctc ccttcctccg gcggcggagc tggctgagca
      361 gcaggaccag ggccgcaggg attgatccct cggtcatagg cccgcaggtg ctcctggctc
      421 acctagcccg cgtgtacggc agcatcttca gcttctttat cggccactac ctggtggtgg
      481 tcctcagcga cttccacagc gtgcgcgagg cgctggtgca gcaggccgag gtcttcagcg
      541 accgcccgcg ggtgccgctc atctccatcg tgaccaagga gaagggggtt gtgtttgcac
      601 attatggtcc cgtctggaga caacaaagga agttctctca ttcaactctt cgtcattttg
      661 ggttgggaaa acttagcttg gagcccaaga ttattgagga gttcaaatat gtgaaagcag
      721 aaatgcaaaa gcacggagaa gaccccttct gccctttctc catcatcagc aatgccgtct
      781 ctaacatcat ttgctccttg tgctttggcc agcgctttga ttacactaat agtgagttca
      841 agaaaatgct tggttttatg tcacgaggcc tagaaatctg tctgaacagt caagtcctcc
      901 tggtcaacat atgcccttgg ctttattacc ttccctttgg accatttaag gaattaagac
      961 aaattgaaaa ggatataacc agtttcctta aaaaaatcat caaagaccat caagagtctc
     1021 tggatagaga gaaccctcag gacttcatag acatgtacct tctccacatg gaagaggaga
     1081 ggaaaaataa tagtaacagc agttttgatg aagagtactt attttatatc attggggatc
     1141 tctttattgc tgggactgat accacaacta actctttgct ctggtgcctg ctgtatatgt
     1201 cgctgaaccc cgatgtacaa gaaaaggttc atgaagaaat tgaaagagtc attggcgcca
     1261 accgagctcc ttccctcaca gacaaggccc agatgcccta cacagaagcc accatcatgg
     1321 aagtgcagag gctaactgtg gtggtgccgc ttgccattcc tcatatgacc tcagagaaca
     1381 cagtgctcca agggtatacc attcctaaag gcacattgat cttacccaac ctgtggtcag
     1441 tacatagaga cccagccatt tgggagaaac cggaggattt ctaccctaat cgatttctgg
     1501 atgaccaagg acaactaatt aaaaaagaaa cctttattcc ttttgggata gggaagcggg
     1561 tgtgtatggg agaacaactg gcaaagatgg aattattcct aatgtttgtg agcctaatgc
     1621 agagtttcgc atttgcttta cctgaggatt ctaagaagcc cctcctgact ggaagatttg
     1681 gtctaacttt agccccacat ccatttaata taactatttc aaggagatga agagcatctc
     1741 caagaagaga tggtaaaaag atatataaat acatatcctt ctaagcagat tcttcctact
     1801 gcaaaggaca gtgaatccag caactcagtg gatccaagct gggctcagag gtcggaagga
     1861 gggtagagca cactgggagg tttcatcttg gaggattcct cagcaggata cttcagccat
     1921 tttagtaatg caggtctgtg atttggggga tagaaaacaa agtacctatg aaacgggata
     1981 tctggatttt acttgcagtg gcttccaccg atgggccaat cttctcattt cttagtgcct
     2041 cagacatccc atatgtaaaa tgagagtaat aaaacttggc ttctctctac ctctcagcac
     2101 taatgatggt caaatgcctt acatcttttc tgatatctct aaaatgctgt taagttctgg
     2161 agaagaactt caggagaaga agatctatca gctggctttt aaagacctat gacaacatga
     2221 aagtggtgtt cagcctggaa tgctttgtca gagatgggtg tggatttagg ttatactggg
     2281 ggagaacttt tctcagcaca gattctatgc cagcttcttt gggcttgttc tgtcactatc
     2341 tttttgttta tgattttagt ttttactttt tgtagatgtg ggatgaagtg gactctgtcg
     2401 tgtatattga ggaaaaaaga aattataatt ttaaaaaatc ccttgtagga ttattatcta
     2461 aatttatatg tctaacttct actacaacta caggaacagt gagccttgct acttctttag
     2521 tagcttcttg gcagaattcc tttctactga gttatttgca aagatgcagc tctacctttt
     2581 tacttaaggc ctgaatggtg agcatgggga ttttgatact gggactcatc aggaaaggat
     2641 tctgctttca aactatactg aacattcctg tcctagcgtc cctgccacca ggcccaatgc
     2701 atctgatcct tgaatatact ctcaaagaat tcactctctt tttattaaga gaactaaatt
     2761 gtttctaaat gtagatggtc cctctggaaa agcagttttc agcaggggtg gtaacccctt
     2821 cagagggagt ttggaaatgt gtgggtatga ttcttggtta tcataatgat gggggtgcta
     2881 ctggccttct gctgccatgg gaccaggatg ctaaatgtca aggtagtcct atacagtgaa
     2941 gaattgtcct gctcaagatg ccaggatttc ccccagtgag aacatgctct aaggaatgac
     3001 cacccctttc ttttattctc ccacagtgct ccatgtacag aagtaagcat agcagtcata
     3061 tgagcaacca cattcctgaa cctttcctca tgctggctct acacttaatc ctttacttgt
     3121 atgtttctgt aattcttaca taaattctat taagagggtg gcatactgta gtggatgaag
     3181 ctgaggctta tagtaggtaa ggcacaaagt taaaaagtaa catcactggg tttcaaacct
     3241 actggtctct gtgactaaag aacactttca gaaccacttc ttgattctgc caccacttga
     3301 tcccataaca ggctacccct tggcctcatg ctggagttgt gtgtgtctgt cttcatccca
     3361 ggctgagctc cttgaggtga ggatgttgtg ctgtttgcct ccctcacagt gccttggtct
     3421 tagtggatgc ccagttgtct tgtgaatgac ttttaagaag tgtacttaag agaaaaatcc
     3481 taccttattt gaataattac aagtcatgtt tttgttgctt aaaggtgata aatcagtgta
     3541 tattatttgt taatgtccat taaagccagt ttttaaaaaa atcactggac ttttgtgttt
     3601 accatttaaa acaaccattt taaacaaact tagaacgatg ccttagctgt ttataggtaa
     3661 cagaatgtaa actcccacca cctggagact aggccatatc cagggacctc acactgactt
     3721 tcctaaagga gagaagcagc tacgctgttc atactgatag agaagagggc aagaaaagat
     3781 ccagagtggc tgttactttg aaaattaaac gaaagatgaa attctgaact taaaacactt
     3841 ctgtttggcc ttctataact gatcaccctt ctttgctctg ttttccagat aaatggagac
     3901 accagatctc cctaacctct gacttctgcc gttagccata ctctgtgtag ttagatctca
     3961 gtctgggaat ggcattccag ggcaattgtg aacatgaggc tagatttttc ctttgattta
     4021 gcacattcct aggcagactt ttgcaagctc aaaaaatgaa aataatatct gcttaaccaa
     4081 aacataatca taggaagaag aaaaatttta aaatgattga tttttgactc tacattcttt
     4141 atctaccata ctgctctttt cctttttaga aatattacta agcactttcc gtatagataa
     4201 atgaaataca ggctaatctt taggtgtctt aggaattttt gctttttgaa aaagaaaagc
     4261 taatagccta actgcagagg aactgagtgg atggggtagc tgctgtatag atttttagat
     4321 gagatgatac agtgtggatt acactgtacc ttgggcggga gagtttgttc ttgatatgga
     4381 attcatatgc ttttgaattg cactaataac tcagcattaa caagtatatt actccttaaa
     4441 ttatacatgc attttcaata ttcctaacca aatagtttat agcttattga gaagaagtct
     4501 gttcttggag agatgttgaa attagatgtt tattaaactt taaaatataa tgccttaagc
     4561 tgtggcactt taaaaacatc tttatatata aattgctaaa aggactgtta atgcttttct
     4621 cagacacatt ggcattttac aattttgcac atggtttatt tgaaatcaaa aaataactat
     4681 actttgtttt ataagtctac ctaatatctc atttttgatt ctcatcgtta gcacagtttt
     4741 gttgctttta ttaaactatt ttaactga
//
