LOCUS       NP_997235                525 aa            linear   PRI 08-OCT-2024
DEFINITION  cytochrome P450 4V2 [Homo sapiens].
ACCESSION   NP_997235
VERSION     NP_997235.3
DBSOURCE    REFSEQ: accession NM_207352.4
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  (residues 1 to 525)
  AUTHORS   Huang,K., Ma,T., Li,Q., Zhong,Z., Zhou,Y., Zhang,W., Qin,T.,
            Tang,S., Zhong,J. and Lu,S.
  TITLE     CYP4V2 rs56413992 C > T was associated with the risk of coronary
            heart disease in the Chinese Han population: a case-control study
  JOURNAL   BMC Med Genomics 16 (1), 322 (2023)
   PUBMED   38066650
  REMARK    GeneRIF: CYP4V2 rs56413992 C > T was associated with the risk of
            coronary heart disease in the Chinese Han population: a
            case-control study.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 525)
  AUTHORS   Hanany,M., Yang,R.R., Lam,C.M., Beryozkin,A., Sundaresan,Y. and
            Sharon,D.
  TITLE     An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic
            Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline
            Dystrophy
  JOURNAL   Transl Vis Sci Technol 12 (2), 27 (2023)
   PUBMED   36795063
  REMARK    GeneRIF: An In-Depth Single-Gene Worldwide Carrier Frequency and
            Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti
            Crystalline Dystrophy.
REFERENCE   3  (residues 1 to 525)
  AUTHORS   Triamchaisri,N., Toochinda,P. and Lawtrakul,L.
  TITLE     Structural Investigation of Beta-Cyclodextrin Complexes with
            Cannabidiol and Delta-9-Tetrahydrocannabinol in 1:1 and 2:1
            Host-Guest Stoichiometry: Molecular Docking and Density Functional
            Calculations
  JOURNAL   Int J Mol Sci 24 (2), 1525 (2023)
   PUBMED   36675035
  REMARK    GeneRIF: Structural Investigation of Beta-Cyclodextrin Complexes
            with Cannabidiol and Delta-9-Tetrahydrocannabinol in 1:1 and 2:1
            Host-Guest Stoichiometry: Molecular Docking and Density Functional
            Calculations.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 525)
  AUTHORS   Long,F., Wang,D., Su,Q., Zhang,Y., Li,J., Xia,S., Wang,H., Wu,Y.
            and Qu,Q.
  TITLE     CYP4 subfamily V member 2 (CYP4V2) polymorphisms were associated
            with ischemic stroke in Chinese Han population
  JOURNAL   BMC Med Genomics 15 (1), 246 (2022)
   PUBMED   36437455
  REMARK    GeneRIF: CYP4 subfamily V member 2 (CYP4V2) polymorphisms were
            associated with ischemic stroke in Chinese Han population.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 525)
  AUTHORS   Li,A., Jiao,X., Munier,F.L., Schorderet,D.F., Yao,W., Iwata,F.,
            Hayakawa,M., Kanai,A., Shy Chen,M., Alan Lewis,R., Heckenlively,J.,
            Weleber,R.G., Traboulsi,E.I., Zhang,Q., Xiao,X., Kaiser-Kupfer,M.,
            Sergeev,Y.V. and Hejtmancik,J.F.
  TITLE     Bietti crystalline corneoretinal dystrophy is caused by mutations
            in the novel gene CYP4V2
  JOURNAL   Am J Hum Genet 74 (5), 817-826 (2004)
   PUBMED   15042513
  REMARK    GeneRIF: Bietti crystalline corneoretinal dystrophy is caused by
            mutations in the novel gene CYP4V2
REFERENCE   6  (residues 1 to 525)
  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   7  (residues 1 to 525)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   8  (residues 1 to 525)
  AUTHORS   Jiao,X., Munier,F.L., Iwata,F., Hayakawa,M., Kanai,A., Lee,J.,
            Schorderet,D.F., Chen,M.S., Kaiser-Kupfer,M. and Hejtmancik,J.F.
  TITLE     Genetic linkage of Bietti crystallin corneoretinal dystrophy to
            chromosome 4q35
  JOURNAL   Am J Hum Genet 67 (5), 1309-1313 (2000)
   PUBMED   11001583
REFERENCE   9  (residues 1 to 525)
  AUTHORS   Vargas,M., Mitchell,A., Yang,P. and Weleber,R.
  TITLE     Bietti Crystalline Dystrophy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   22497028
REFERENCE   10 (residues 1 to 525)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY422002.1, BC060857.1,
            AC110771.3 and AA918796.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 13, 2008 this sequence version replaced NP_997235.2.
            
            Summary: This gene encodes a member of the cytochrome P450
            hemethiolate protein superfamily which are involved in oxidizing
            various substrates in the metabolic pathway. It is implicated in
            the metabolism of fatty acid precursors into n-3 polyunsaturated
            fatty acids. Mutations in this gene result in Bietti crystalline
            corneoretinal dystrophy. [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 :: SRR1803614.282586.1,
                                           SRR1803614.32044.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378802.5/ ENSP00000368079.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..525
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.1-q35.2"
     Protein         1..525
                     /product="cytochrome P450 4V2"
                     /EC_number="1.14.14.79"
                     /EC_number="1.14.14.80"
                     /note="docosahexaenoic acid omega-hydroxylase CYP4V2;
                     cytochrome P450, family 4, subfamily V, polypeptide 2;
                     long-chain fatty acid omega-monooxygenase"
                     /calculated_mol_wt=60593
     Site            13..33
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6ZWL3.2)"
     Region          76..515
                     /region_name="CYP4V"
                     /note="cytochrome P450 family 4, subfamily V; cd20680"
                     /db_xref="CDD:410773"
     Site            order(118,135..136,143,147,154,326,329..330,333,394,398,
                     459..461,465..469,472..473,477)
                     /site_type="other"
                     /note="heme binding site [chemical binding]"
                     /db_xref="CDD:410773"
     Site            order(136,328..329,333,397,399)
                     /site_type="other"
                     /note="putative chemical substrate binding pocket
                     [chemical binding]"
                     /db_xref="CDD:410773"
     CDS             1..525
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
                     /coded_by="NM_207352.4:258..1835"
                     /db_xref="CCDS:CCDS34119.1"
                     /db_xref="GeneID:285440"
                     /db_xref="HGNC:HGNC:23198"
                     /db_xref="MIM:608614"
ORIGIN      
        1 maglwlglvw qklllwgaas alslagaslv lsllqrvasy arkwqqmrpi ptvarayplv
       61 ghallmkpdg reffqqiiey teeyrhmpll klwvgpvpmv alynaenvev iltsskqidk
      121 ssmykflepw lglglltstg nkwrsrrkml tptfhftile dfldimneqa nilvkklekh
      181 inqeafncff yitlcaldii cetamgknig aqsnddseyv ravyrmsemi frrikmpwlw
      241 ldlwylmfke gwehkkslqi lhtftnsvia eranemnane dcrgdgrgsa psknkrrafl
      301 dlllsvtdde gnrlshedir eevdtfmfeg hdttaaainw slyllgsnpe vqkkvdheld
      361 dvfgksdrpa tvedlkklry lecviketlr lfpsvplfar svsedcevag yrvlkgteav
      421 iipyalhrdp ryfpnpeefq perffpenaq grhpyayvpf sagprncigq kfavmeekti
      481 lscilrhfwi esnqkreelg legqlilrps ngiwiklkrr nader
//
