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Q6ZWL3

- CP4V2_HUMAN

UniProt

Q6ZWL3 - CP4V2_HUMAN

Protein

Cytochrome P450 4V2

Gene

CYP4V2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    Functioni

    Catalyzes the omega-hydroxylation of medium-chain saturated fatty acids such as laurate, myristate and palmitate in an NADPH-dependent pathway. The substrate specificity is higher for myristate > laurate > palmitate (C14>C16>C12). May have a role in fatty acid and steroid metabolism in the eye.1 Publication

    Cofactori

    Heme group.By similarity

    Enzyme regulationi

    Inhibited by N-hydroxy-N'-(4-n-butyl-2-methylphenyl formamidine)(HET0016) with an IC50 of 38 nM.1 Publication

    Kineticsi

    Vmax is the nearly the same for myristic acid and for lauric acid and reduced about 30% for palmitic acid.

    1. KM=65 µM for myristic acid1 Publication
    2. KM=140 µM for lauric acid1 Publication
    3. KM=430 µM for palmitic acid1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei329 – 3291Heme (covalent; via 1 link)By similarity
    Metal bindingi467 – 4671Iron (heme axial ligand)By similarity

    GO - Molecular functioni

    1. heme binding Source: InterPro
    2. iron ion binding Source: InterPro
    3. monooxygenase activity Source: UniProtKB-KW
    4. oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen Source: InterPro

    GO - Biological processi

    1. fatty acid omega-oxidation Source: UniProtKB
    2. response to stimulus Source: UniProtKB-KW
    3. visual perception Source: UniProtKB-KW

    Keywords - Molecular functioni

    Monooxygenase, Oxidoreductase

    Keywords - Biological processi

    Sensory transduction, Vision

    Keywords - Ligandi

    Heme, Iron, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytochrome P450 4V2 (EC:1.14.13.-)
    Gene namesi
    Name:CYP4V2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:23198. CYP4V2.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]: An autosomal recessive ocular disease characterized by retinal degeneration and marginal corneal dystrophy. Typical features include multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most patients have similar crystals at the corneoscleral limbus. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, they develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti44 – 441W → R in BCD. 1 Publication
    VAR_023084
    Natural varianti61 – 611G → S in BCD. 1 Publication
    VAR_023085
    Natural varianti79 – 791E → D in BCD. 1 Publication
    VAR_023086
    Natural varianti111 – 1111I → T in BCD. 1 Publication
    VAR_023087
    Natural varianti123 – 1231M → V in BCD. 1 Publication
    Corresponds to variant rs149684063 [ dbSNP | Ensembl ].
    VAR_023088
    Natural varianti331 – 3311H → P in BCD. 1 Publication
    VAR_023089
    Natural varianti341 – 3411S → P in BCD. 1 Publication
    VAR_023090
    Natural varianti508 – 5081R → H in BCD. 1 Publication
    VAR_023091

    Keywords - Diseasei

    Corneal dystrophy, Disease mutation

    Organism-specific databases

    MIMi210370. phenotype.
    Orphaneti41751. Bietti crystalline dystrophy.
    791. Retinitis pigmentosa.
    PharmGKBiPA134912942.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 525525Cytochrome P450 4V2PRO_0000051859Add
    BLAST

    Proteomic databases

    MaxQBiQ6ZWL3.
    PaxDbiQ6ZWL3.
    PRIDEiQ6ZWL3.

    PTM databases

    PhosphoSiteiQ6ZWL3.

    Expressioni

    Tissue specificityi

    Broadly expressed. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, retina, retinal pigment epithelium (RPE) and lymphocytes.1 Publication

    Gene expression databases

    ArrayExpressiQ6ZWL3.
    BgeeiQ6ZWL3.
    GenevestigatoriQ6ZWL3.

    Organism-specific databases

    HPAiHPA029122.

    Interactioni

    Protein-protein interaction databases

    BioGridi130113. 3 interactions.
    IntActiQ6ZWL3. 1 interaction.
    STRINGi9606.ENSP00000368079.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6ZWL3.
    SMRiQ6ZWL3. Positions 85-520.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei13 – 3321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the cytochrome P450 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG2124.
    HOGENOMiHOG000233834.
    HOVERGENiHBG000182.
    InParanoidiQ6ZWL3.
    KOiK07427.
    OMAiMSEMIFR.
    OrthoDBiEOG7CNZFK.
    PhylomeDBiQ6ZWL3.
    TreeFamiTF105088.

    Family and domain databases

    Gene3Di1.10.630.10. 1 hit.
    InterProiIPR001128. Cyt_P450.
    IPR017972. Cyt_P450_CS.
    IPR002401. Cyt_P450_E_grp-I.
    [Graphical view]
    PfamiPF00067. p450. 1 hit.
    [Graphical view]
    PRINTSiPR00463. EP450I.
    PR00385. P450.
    SUPFAMiSSF48264. SSF48264. 1 hit.
    PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6ZWL3-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAGLWLGLVW QKLLLWGAAS ALSLAGASLV LSLLQRVASY ARKWQQMRPI    50
    PTVARAYPLV GHALLMKPDG REFFQQIIEY TEEYRHMPLL KLWVGPVPMV 100
    ALYNAENVEV ILTSSKQIDK SSMYKFLEPW LGLGLLTSTG NKWRSRRKML 150
    TPTFHFTILE DFLDIMNEQA NILVKKLEKH INQEAFNCFF YITLCALDII 200
    CETAMGKNIG AQSNDDSEYV RAVYRMSEMI FRRIKMPWLW LDLWYLMFKE 250
    GWEHKKSLQI LHTFTNSVIA ERANEMNANE DCRGDGRGSA PSKNKRRAFL 300
    DLLLSVTDDE GNRLSHEDIR EEVDTFMFEG HDTTAAAINW SLYLLGSNPE 350
    VQKKVDHELD DVFGKSDRPA TVEDLKKLRY LECVIKETLR LFPSVPLFAR 400
    SVSEDCEVAG YRVLKGTEAV IIPYALHRDP RYFPNPEEFQ PERFFPENAQ 450
    GRHPYAYVPF SAGPRNCIGQ KFAVMEEKTI LSCILRHFWI ESNQKREELG 500
    LEGQLILRPS NGIWIKLKRR NADER 525
    Length:525
    Mass (Da):60,724
    Last modified:May 18, 2010 - v2
    Checksum:iA26F0A517C9569AD
    GO
    Isoform 2 (identifier: Q6ZWL3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         42-63: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:503
    Mass (Da):58,166
    Checksum:i117B6B2EC969AF96
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti22 – 221L → V.1 Publication
    Corresponds to variant rs1055138 [ dbSNP | Ensembl ].
    VAR_038606
    Natural varianti44 – 441W → R in BCD. 1 Publication
    VAR_023084
    Natural varianti61 – 611G → S in BCD. 1 Publication
    VAR_023085
    Natural varianti79 – 791E → D in BCD. 1 Publication
    VAR_023086
    Natural varianti111 – 1111I → T in BCD. 1 Publication
    VAR_023087
    Natural varianti123 – 1231M → V in BCD. 1 Publication
    Corresponds to variant rs149684063 [ dbSNP | Ensembl ].
    VAR_023088
    Natural varianti213 – 2131S → N.1 Publication
    Corresponds to variant rs34331648 [ dbSNP | Ensembl ].
    VAR_038607
    Natural varianti259 – 2591Q → K.3 Publications
    Corresponds to variant rs13146272 [ dbSNP | Ensembl ].
    VAR_033821
    Natural varianti275 – 2751E → K.1 Publication
    Corresponds to variant rs34745240 [ dbSNP | Ensembl ].
    VAR_055379
    Natural varianti331 – 3311H → P in BCD. 1 Publication
    VAR_023089
    Natural varianti341 – 3411S → P in BCD. 1 Publication
    VAR_023090
    Natural varianti372 – 3721V → I.1 Publication
    Corresponds to variant rs61755911 [ dbSNP | Ensembl ].
    VAR_055380
    Natural varianti443 – 4431R → Q.1 Publication
    Corresponds to variant rs72646291 [ dbSNP | Ensembl ].
    VAR_055381
    Natural varianti508 – 5081R → H in BCD. 1 Publication
    VAR_023091

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei42 – 6322Missing in isoform 2. 1 PublicationVSP_014918Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY422002 mRNA. Translation: AAR31180.1.
    AK122600 mRNA. Translation: BAC85487.1.
    AK126473 mRNA. Translation: BAC86562.1.
    FJ440682 Genomic DNA. Translation: ACK44069.1.
    AC110771 Genomic DNA. No translation available.
    BC060857 mRNA. Translation: AAH60857.1.
    CCDSiCCDS34119.1. [Q6ZWL3-1]
    RefSeqiNP_997235.3. NM_207352.3. [Q6ZWL3-1]
    UniGeneiHs.587231.

    Genome annotation databases

    EnsembliENST00000378802; ENSP00000368079; ENSG00000145476. [Q6ZWL3-1]
    GeneIDi285440.
    KEGGihsa:285440.
    UCSCiuc003iyw.4. human. [Q6ZWL3-1]

    Polymorphism databases

    DMDMi296434466.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY422002 mRNA. Translation: AAR31180.1 .
    AK122600 mRNA. Translation: BAC85487.1 .
    AK126473 mRNA. Translation: BAC86562.1 .
    FJ440682 Genomic DNA. Translation: ACK44069.1 .
    AC110771 Genomic DNA. No translation available.
    BC060857 mRNA. Translation: AAH60857.1 .
    CCDSi CCDS34119.1. [Q6ZWL3-1 ]
    RefSeqi NP_997235.3. NM_207352.3. [Q6ZWL3-1 ]
    UniGenei Hs.587231.

    3D structure databases

    ProteinModelPortali Q6ZWL3.
    SMRi Q6ZWL3. Positions 85-520.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 130113. 3 interactions.
    IntActi Q6ZWL3. 1 interaction.
    STRINGi 9606.ENSP00000368079.

    PTM databases

    PhosphoSitei Q6ZWL3.

    Polymorphism databases

    DMDMi 296434466.

    Proteomic databases

    MaxQBi Q6ZWL3.
    PaxDbi Q6ZWL3.
    PRIDEi Q6ZWL3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378802 ; ENSP00000368079 ; ENSG00000145476 . [Q6ZWL3-1 ]
    GeneIDi 285440.
    KEGGi hsa:285440.
    UCSCi uc003iyw.4. human. [Q6ZWL3-1 ]

    Organism-specific databases

    CTDi 285440.
    GeneCardsi GC04P187112.
    GeneReviewsi CYP4V2.
    H-InvDB HIX0004688.
    HGNCi HGNC:23198. CYP4V2.
    HPAi HPA029122.
    MIMi 210370. phenotype.
    608614. gene.
    neXtProti NX_Q6ZWL3.
    Orphaneti 41751. Bietti crystalline dystrophy.
    791. Retinitis pigmentosa.
    PharmGKBi PA134912942.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2124.
    HOGENOMi HOG000233834.
    HOVERGENi HBG000182.
    InParanoidi Q6ZWL3.
    KOi K07427.
    OMAi MSEMIFR.
    OrthoDBi EOG7CNZFK.
    PhylomeDBi Q6ZWL3.
    TreeFami TF105088.

    Miscellaneous databases

    GeneWikii CYP4V2.
    GenomeRNAii 285440.
    NextBioi 95523.
    PROi Q6ZWL3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6ZWL3.
    Bgeei Q6ZWL3.
    Genevestigatori Q6ZWL3.

    Family and domain databases

    Gene3Di 1.10.630.10. 1 hit.
    InterProi IPR001128. Cyt_P450.
    IPR017972. Cyt_P450_CS.
    IPR002401. Cyt_P450_E_grp-I.
    [Graphical view ]
    Pfami PF00067. p450. 1 hit.
    [Graphical view ]
    PRINTSi PR00463. EP450I.
    PR00385. P450.
    SUPFAMi SSF48264. SSF48264. 1 hit.
    PROSITEi PS00086. CYTOCHROME_P450. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANTS BCD ARG-44; SER-61; ASP-79; THR-111; VAL-123; LYS-259; PRO-331; PRO-341 AND HIS-508.
      Tissue: Retina.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT LYS-259.
      Tissue: Kidney and Uterus.
    3. NIEHS SNPs program
      Submitted (NOV-2008) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-22; ASN-213; LYS-275; ILE-372 AND GLN-443.
    4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LYS-259.
      Tissue: Placenta.
    6. "Expression and characterization of CYP4V2 as a fatty acid omega-hydroxylase."
      Nakano M., Kelly E.J., Rettie A.E.
      Drug Metab. Dispos. 37:2119-2122(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: CATALYTIC ACTIVITY, FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, SUBSTRATE SPECIFICITY, ENZYME REGULATION.

    Entry informationi

    Entry nameiCP4V2_HUMAN
    AccessioniPrimary (citable) accession number: Q6ZWL3
    Secondary accession number(s): B7U6W2, Q6ZTM4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 2, 2005
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 113 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3