LOCUS       NM_173483               2609 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens cytochrome P450 family 4 subfamily F member 22
            (CYP4F22), mRNA.
ACCESSION   NM_173483
VERSION     NM_173483.4
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 2609)
  AUTHORS   Nohara,T., Ohno,Y. and Kihara,A.
  TITLE     Impaired production of the skin barrier lipid acylceramide by
            CYP4F22 ichthyosis mutations
  JOURNAL   J Dermatol Sci 101 (1), 69-71 (2021)
   PUBMED   33067036
  REMARK    GeneRIF: Impaired production of the skin barrier lipid acylceramide
            by CYP4F22 ichthyosis mutations.
REFERENCE   2  (bases 1 to 2609)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2609)
  AUTHORS   Esperon-Moldes,U., Ginarte-Val,M., Rodriguez-Pazos,L., Fachal,L.,
            Martin-Santiago,A., Vicente,A., Jimenez-Gallo,D.,
            Guillen-Navarro,E., Sampol,L.M., Gonzalez-Ensenat,M.A. and Vega,A.
  TITLE     Novel CYP4F22 mutations associated with autosomal recessive
            congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T
            founder mutation
  JOURNAL   PLoS One 15 (2), e0229025 (2020)
   PUBMED   32069299
  REMARK    GeneRIF: The present study reports five CYP4F22 mutations, two of
            them novel, increasing the number of CYP4F22 mutations currently
            listed. Additionally, our results suggest that the recurrent
            c.1303C>T change has a founder effect in Spanish population and
            c.1303C>T carrier families originated from a single ancestor with
            probable African ancestry.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2609)
  AUTHORS   Sayeb,M., Riahi,Z., Laroussi,N., Bonnet,C., Romdhane,L.,
            Mkaouar,R., Zaouak,A., Marrakchi,J., Abdessalem,G., Messaoud,O.,
            Bouchniba,O., Ghilane,N., Mokni,M., Besbes,G., Yacoub-Youssef,H.,
            Petit,C. and Abdelhak,S.
  TITLE     A Tunisian family with a novel mutation in the gene CYP4F22 for
            lamellar ichthyosis and co-occurrence of hearing loss in a child
            due to mutation in the SLC26A4 gene
  JOURNAL   Int J Dermatol 58 (12), 1439-1443 (2019)
   PUBMED   31020658
  REMARK    GeneRIF: Study reports a consanguineous family from Southern
            Tunisia including three members affected with congenital ichthyosis
            likely due to a novel missense mutation c.728G>T (p.Arg243Leu) in
            exon 8 of CYP4F2.
REFERENCE   5  (bases 1 to 2609)
  AUTHORS   Elias,P.M., Williams,M.L., Holleran,W.M., Jiang,Y.J. and Schmuth,M.
  TITLE     Pathogenesis of permeability barrier abnormalities in the
            ichthyoses: inherited disorders of lipid metabolism
  JOURNAL   J Lipid Res 49 (4), 697-714 (2008)
   PUBMED   18245815
  REMARK    Review article
REFERENCE   6  (bases 1 to 2609)
  AUTHORS   Lefevre,C., Bouadjar,B., Ferrand,V., Tadini,G., Megarbane,A.,
            Lathrop,M., Prud'homme,J.F. and Fischer,J.
  TITLE     Mutations in a new cytochrome P450 gene in lamellar ichthyosis type
            3
  JOURNAL   Hum Mol Genet 15 (5), 767-776 (2006)
   PUBMED   16436457
REFERENCE   7  (bases 1 to 2609)
  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   8  (bases 1 to 2609)
  AUTHORS   Virolainen,E., Wessman,M., Hovatta,I., Niemi,K.M., Ignatius,J.,
            Kere,J., Peltonen,L. and Palotie,A.
  TITLE     Assignment of a novel locus for autosomal recessive congenital
            ichthyosis to chromosome 19p13.1-p13.2
  JOURNAL   Am J Hum Genet 66 (3), 1132-1137 (2000)
   PUBMED   10712223
REFERENCE   9  (bases 1 to 2609)
  AUTHORS   Fischer,J., Faure,A., Bouadjar,B., Blanchet-Bardon,C.,
            Karaduman,A., Thomas,I., Emre,S., Cure,S., Ozguc,M., Weissenbach,J.
            and Prud'homme,J.F.
  TITLE     Two new loci for autosomal recessive ichthyosis on chromosomes 3p21
            and 19p12-q12 and evidence for further genetic heterogeneity
  JOURNAL   Am J Hum Genet 66 (3), 904-913 (2000)
   PUBMED   10712205
REFERENCE   10 (bases 1 to 2609)
  AUTHORS   Richard,G.
  TITLE     Autosomal Recessive Congenital Ichthyosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301593
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA874258.1, BC069351.1,
            AC011492.8 and AI341068.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_173483.3.
            
            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 gene is part of a cluster of cytochrome P450 genes on
            chromosome 19 and encodes an enzyme thought to play a role in the
            12(R)-lipoxygenase pathway. Mutations in this gene are the cause of
            ichthyosis lamellar type 3. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK096820.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144335
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000269703.8/ ENSP00000269703.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-63                DA874258.1         1-63
            64-1882             BC069351.1         1-1819
            1883-2222           AC011492.8         107570-107909
            2223-2609           AI341068.1         12-398              c
FEATURES             Location/Qualifiers
     source          1..2609
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.12"
     gene            1..2609
                     /gene="CYP4F22"
                     /gene_synonym="ARCI5; INLNE; LI3"
                     /note="cytochrome P450 family 4 subfamily F member 22"
                     /db_xref="GeneID:126410"
                     /db_xref="HGNC:HGNC:26820"
                     /db_xref="MIM:611495"
     exon            1..59
                     /gene="CYP4F22"
                     /gene_synonym="ARCI5; INLNE; LI3"
                     /inference="alignment:Splign:2.1.0"
     exon            60..166
                     /gene="CYP4F22"
                     /gene_synonym="ARCI5; INLNE; LI3"
                     /inference="alignment:Splign:2.1.0"
     exon            167..389
                     /gene="CYP4F22"
                     /gene_synonym="ARCI5; INLNE; LI3"
                     /inference="alignment:Splign:2.1.0"
     CDS             168..1763
                     /gene="CYP4F22"
                     /gene_synonym="ARCI5; INLNE; LI3"
                     /EC_number="1.14.14.177"
                     /note="cytochrome P450 4F22; cytochrome P450, family 2,
                     subfamily E, polypeptide 2 homolog; cytochrome P450,
                     family 4, subfamily F, polypeptide 22"
                     /codon_start=1
                     /product="ultra-long-chain fatty acid omega-hydroxylase"
                     /protein_id="NP_775754.2"
                     /db_xref="CCDS:CCDS12331.1"
                     /db_xref="GeneID:126410"
                     /db_xref="HGNC:HGNC:26820"
                     /db_xref="MIM:611495"
                     /translation="MLPITDRLLHLLGLEKTAFRIYAVSTLLLFLLFFLFRLLLRFLR
                     LCRSFYITCRRLRCFPQPPRRNWLLGHLGMYLPNEAGLQDEKKVLDNMHHVLLVWMGP
                     VLPLLVLVHPDYIKPLLGASAAIAPKDDLFYGFLKPWLGDGLLLSKGDKWSRHRRLLT
                     PAFHFDILKPYMKIFNQSADIMHAKWRHLAEGSAVSLDMFEHISLMTLDSLQKCVFSY
                     NSNCQEKMSDYISAIIELSALSVRRQYRLHHYLDFIYYRSADGRRFRQACDMVHHFTT
                     EVIQERRRALRQQGAEAWLKAKQGKTLDFIDVLLLARDEDGKELSDEDIRAEADTFMF
                     EGHDTTSSGISWMLFNLAKYPEYQEKCREEIQEVMKGRELEELEWDDLTQLPFTTMCI
                     KESLRQYPPVTLVSRQCTEDIKLPDGRIIPKGIICLVSIYGTHHNPTVWPDSKVYNPY
                     RFDPDNPQQRSPLAYVPFSAGPRNCIGQSFAMAELRVVVALTLLRFRLSVDRTRKVRR
                     KPELILRTENGLWLKVEPLPPRA"
     exon            390..534
                     /gene="CYP4F22"
                     /gene_synonym="ARCI5; INLNE; LI3"
                     /inference="alignment:Splign:2.1.0"
     exon            535..588
                     /gene="CYP4F22"
                     /gene_synonym="ARCI5; INLNE; LI3"
                     /inference="alignment:Splign:2.1.0"
     exon            589..716
                     /gene="CYP4F22"
                     /gene_synonym="ARCI5; INLNE; LI3"
                     /inference="alignment:Splign:2.1.0"
     exon            717..838
                     /gene="CYP4F22"
                     /gene_synonym="ARCI5; INLNE; LI3"
                     /inference="alignment:Splign:2.1.0"
     exon            839..1106
                     /gene="CYP4F22"
                     /gene_synonym="ARCI5; INLNE; LI3"
                     /inference="alignment:Splign:2.1.0"
     exon            1107..1173
                     /gene="CYP4F22"
                     /gene_synonym="ARCI5; INLNE; LI3"
                     /inference="alignment:Splign:2.1.0"
     exon            1174..1303
                     /gene="CYP4F22"
                     /gene_synonym="ARCI5; INLNE; LI3"
                     /inference="alignment:Splign:2.1.0"
     exon            1304..1437
                     /gene="CYP4F22"
                     /gene_synonym="ARCI5; INLNE; LI3"
                     /inference="alignment:Splign:2.1.0"
     exon            1438..1502
                     /gene="CYP4F22"
                     /gene_synonym="ARCI5; INLNE; LI3"
                     /inference="alignment:Splign:2.1.0"
     exon            1503..1585
                     /gene="CYP4F22"
                     /gene_synonym="ARCI5; INLNE; LI3"
                     /inference="alignment:Splign:2.1.0"
     exon            1586..2609
                     /gene="CYP4F22"
                     /gene_synonym="ARCI5; INLNE; LI3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2586..2591
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP4F22"
                     /gene_synonym="ARCI5; INLNE; LI3"
                     /note="hexamer: CATAAA"
     polyA_site      2609
                     /gene="CYP4F22"
                     /gene_synonym="ARCI5; INLNE; LI3"
                     /note="major polyA site"
ORIGIN      
        1 agatcccagg tagtggcgcc ggtggatccg gatcgagggc aggaggctga gacccgcggg
       61 agctggccct aaagcaagga cctgagtgca agtaattttt ttgggaagta ataacagaaa
      121 ataccagcaa ggaagaagac agtgaaccca aaagaattga aaacaggatg ctgcccatca
      181 cagaccgcct gctgcacctc ctggggctgg agaagacggc gttccgcata tacgcggtgt
      241 ccacccttct cctcttcctg ctcttcttcc tgttccgcct gctgctgcgg ttcctgaggc
      301 tctgcaggag cttctacatc acctgccgcc ggctgcgctg cttcccccag cctccccggc
      361 gcaactggct gctgggccac ctgggcatgt accttccaaa tgaggcgggc cttcaagatg
      421 agaagaaggt actggacaac atgcaccatg tactcttggt atggatggga cctgtcctgc
      481 cgctgttggt tctggtgcac cctgattaca tcaaacccct tttgggagcc tcagctgcca
      541 tcgcccccaa ggatgacctc ttctatggct tcctaaaacc ttggctaggg gatgggctgc
      601 tgctcagcaa aggtgacaag tggagccggc accgtcgcct gctgacaccc gccttccact
      661 ttgacatcct gaagccttac atgaagatct tcaaccagag cgctgacatt atgcatgcta
      721 aatggcggca tctggcagag ggctcagcgg tctcccttga tatgtttgag catatcagcc
      781 tcatgaccct ggacagtctt cagaaatgtg tcttcagcta caacagcaac tgccaagaga
      841 agatgagtga ttatatctcc gctatcattg aactgagcgc tctgtctgtc cggcgccagt
      901 atcgcttgca ccactacctc gacttcattt actaccgctc ggcggatggg cggaggttcc
      961 ggcaggcctg tgacatggtg caccacttca ccactgaagt catccaggaa cggcggcggg
     1021 cactgcgtca gcagggggcc gaggcctggc ttaaggccaa gcaggggaag accttggact
     1081 ttattgatgt gctgctcctg gccagggatg aagatggaaa ggaactgtca gacgaggata
     1141 tccgagccga agcagacacc ttcatgtttg agggtcacga cacaacatcc agtgggatct
     1201 cttggatgct gttcaatttg gcaaagtatc cggaatacca ggagaaatgc cgagaagaga
     1261 ttcaggaagt catgaaaggc cgggagctgg aggagctgga gtgggacgat ctgactcagc
     1321 tgccctttac aactatgtgc attaaggaga gcctgcgcca gtacccacct gtcactcttg
     1381 tctctcgcca atgcacggag gacatcaagc tcccagatgg gcgcatcatc cccaaaggaa
     1441 tcatctgctt ggtcagcatc tatggaaccc accacaaccc cacagtgtgg cctgactcca
     1501 aggtgtacaa cccctaccgc tttgacccgg acaacccaca gcagcgctct ccactggcct
     1561 atgtgccctt ctctgcagga cccaggaatt gcatcggaca gagcttcgcc atggccgagt
     1621 tgcgcgtggt tgtggcacta acactgctac gtttccgcct gagcgtggac cgaacgcgca
     1681 aggtgcggcg gaagccggag ctcatactgc gcacggagaa cgggctctgg ctcaaggtgg
     1741 agccgctgcc tccgcgggcc tgagcgtggg cgcgcccctg cggctcccga gggtccaggc
     1801 cccgccccca aaggaccagg actcgcccca aagatcccga gggcataggc cacccccctc
     1861 gaagttcagg ttcagctcct ggatgaccag gcaccgctgt tgagcagcct ggtggtactg
     1921 gccacgcccc tcaaggcaag gctcctcccc ttagggggcc tgatcccgcc ccttgaggct
     1981 taggtcccgc cccctgactt ctcgcacctg tcctgtttga gggaccaggg tcgaccctgc
     2041 ccccttgggc tcaggccccg cccccaggat cctacggatt gaggtcctca ggccacgccc
     2101 ctgcagatcc aggtctccag gccttgccca ctgagccttc agaggaccta agacccacct
     2161 atgactcagg gcccaccaca ccccaccccc ccccaactgg ctgaacccct ggcaggcttc
     2221 caaactgagg aaagctggag cctgacgtca gagcttttaa ctcggacatc accctcctga
     2281 ggccctcagc tcatacgggc agactgctca ggcgtgaggc tggatcgtag ggttcgaggc
     2341 tgcttgcttt tgttgttgtt ttgtaaactc agacccttgt aagccccttc cttcctccct
     2401 tgcccaaaga tcctttgctg agtgttctgt ttttgcagaa taaaagcaaa ggatgcagac
     2461 ttaccccacc ctccacccct agctcagcca gatccttaca cgtggagccc ccagcatggg
     2521 aatgaggggc tctgcaactg agcgaagctg cgggctagga ggctggaaag ccatttatcc
     2581 taggacataa actcagattt tgggggtca
//
