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Q6NT55

- CP4FN_HUMAN

UniProt

Q6NT55 - CP4FN_HUMAN

Protein

Cytochrome P450 4F22

Gene

CYP4F22

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    Cofactori

    Heme group.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei335 – 3351Heme (covalent; via 1 link)By similarity
    Metal bindingi475 – 4751Iron (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

    Keywords - Molecular functioni

    Monooxygenase, Oxidoreductase

    Keywords - Ligandi

    Heme, Iron, Metal-binding, NADP

    Enzyme and pathway databases

    ReactomeiREACT_13425. Miscellaneous substrates.
    REACT_13645. Eicosanoids.
    REACT_13814. Fatty acids.
    REACT_150420. Synthesis of Leukotrienes (LT) and Eoxins (EX).

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytochrome P450 4F22 (EC:1.14.14.-)
    Gene namesi
    Name:CYP4F22
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:26820. CYP4F22.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Microsome

    Pathology & Biotechi

    Involvement in diseasei

    Ichthyosis, congenital, autosomal recessive 5 (ARCI5) [MIM:604777]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti59 – 591F → L in ARCI5. 1 Publication
    VAR_037441
    Natural varianti243 – 2431R → H in ARCI5. 1 Publication
    VAR_037442
    Natural varianti372 – 3721R → W in ARCI5. 1 Publication
    VAR_037443
    Natural varianti435 – 4351H → Y in ARCI5. 1 Publication
    VAR_037444
    Natural varianti436 – 4361H → D in ARCI5. 1 Publication
    VAR_037445

    Keywords - Diseasei

    Ichthyosis

    Organism-specific databases

    MIMi604777. phenotype.
    Orphaneti313. Lamellar ichthyosis.
    PharmGKBiPA162383112.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 531531Cytochrome P450 4F22PRO_0000293731Add
    BLAST

    Proteomic databases

    PaxDbiQ6NT55.
    PRIDEiQ6NT55.

    PTM databases

    PhosphoSiteiQ6NT55.

    Expressioni

    Gene expression databases

    BgeeiQ6NT55.
    CleanExiHS_CYP4F22.
    GenevestigatoriQ6NT55.

    Organism-specific databases

    HPAiHPA029875.

    Interactioni

    Protein-protein interaction databases

    BioGridi125990. 1 interaction.
    STRINGi9606.ENSP00000269703.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6NT55.
    SMRiQ6NT55. Positions 92-530.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the cytochrome P450 family.Curated

    Phylogenomic databases

    eggNOGiCOG2124.
    HOGENOMiHOG000233833.
    HOVERGENiHBG000182.
    InParanoidiQ6NT55.
    KOiK17731.
    OMAiHHVILVW.
    OrthoDBiEOG7CNZFK.
    PhylomeDBiQ6NT55.
    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]

    Sequencei

    Sequence statusi: Complete.

    Q6NT55-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLPITDRLLH LLGLEKTAFR IYAVSTLLLF LLFFLFRLLL RFLRLCRSFY    50
    ITCRRLRCFP QPPRRNWLLG HLGMYLPNEA GLQDEKKVLD NMHHVLLVWM 100
    GPVLPLLVLV HPDYIKPLLG ASAAIAPKDD LFYGFLKPWL GDGLLLSKGD 150
    KWSRHRRLLT PAFHFDILKP YMKIFNQSAD IMHAKWRHLA EGSAVSLDMF 200
    EHISLMTLDS LQKCVFSYNS NCQEKMSDYI SAIIELSALS VRRQYRLHHY 250
    LDFIYYRSAD GRRFRQACDM VHHFTTEVIQ ERRRALRQQG AEAWLKAKQG 300
    KTLDFIDVLL LARDEDGKEL SDEDIRAEAD TFMFEGHDTT SSGISWMLFN 350
    LAKYPEYQEK CREEIQEVMK GRELEELEWD DLTQLPFTTM CIKESLRQYP 400
    PVTLVSRQCT EDIKLPDGRI IPKGIICLVS IYGTHHNPTV WPDSKVYNPY 450
    RFDPDNPQQR SPLAYVPFSA GPRNCIGQSF AMAELRVVVA LTLLRFRLSV 500
    DRTRKVRRKP ELILRTENGL WLKVEPLPPR A 531
    Length:531
    Mass (Da):61,958
    Last modified:July 5, 2004 - v1
    Checksum:i32E801893EB8C536
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti125 – 1251I → T in BAC04868. (PubMed:14702039)Curated
    Sequence conflicti288 – 2881Q → R in BAC04868. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti59 – 591F → L in ARCI5. 1 Publication
    VAR_037441
    Natural varianti178 – 1781S → C.
    Corresponds to variant rs16980531 [ dbSNP | Ensembl ].
    VAR_033118
    Natural varianti243 – 2431R → H in ARCI5. 1 Publication
    VAR_037442
    Natural varianti372 – 3721R → W in ARCI5. 1 Publication
    VAR_037443
    Natural varianti435 – 4351H → Y in ARCI5. 1 Publication
    VAR_037444
    Natural varianti436 – 4361H → D in ARCI5. 1 Publication
    VAR_037445
    Natural varianti505 – 5051K → Q.
    Corresponds to variant rs7256787 [ dbSNP | Ensembl ].
    VAR_033119

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK096820 mRNA. Translation: BAC04868.1.
    BC069351 mRNA. Translation: AAH69351.1.
    BC093894 mRNA. Translation: AAH93894.1.
    BC093896 mRNA. Translation: AAH93896.1.
    CCDSiCCDS12331.1.
    RefSeqiNP_775754.2. NM_173483.3.
    UniGeneiHs.156452.

    Genome annotation databases

    EnsembliENST00000269703; ENSP00000269703; ENSG00000171954.
    ENST00000601005; ENSP00000469866; ENSG00000171954.
    GeneIDi126410.
    KEGGihsa:126410.
    UCSCiuc002nbh.4. human.

    Polymorphism databases

    DMDMi74748981.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK096820 mRNA. Translation: BAC04868.1 .
    BC069351 mRNA. Translation: AAH69351.1 .
    BC093894 mRNA. Translation: AAH93894.1 .
    BC093896 mRNA. Translation: AAH93896.1 .
    CCDSi CCDS12331.1.
    RefSeqi NP_775754.2. NM_173483.3.
    UniGenei Hs.156452.

    3D structure databases

    ProteinModelPortali Q6NT55.
    SMRi Q6NT55. Positions 92-530.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125990. 1 interaction.
    STRINGi 9606.ENSP00000269703.

    PTM databases

    PhosphoSitei Q6NT55.

    Polymorphism databases

    DMDMi 74748981.

    Proteomic databases

    PaxDbi Q6NT55.
    PRIDEi Q6NT55.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000269703 ; ENSP00000269703 ; ENSG00000171954 .
    ENST00000601005 ; ENSP00000469866 ; ENSG00000171954 .
    GeneIDi 126410.
    KEGGi hsa:126410.
    UCSCi uc002nbh.4. human.

    Organism-specific databases

    CTDi 126410.
    GeneCardsi GC19P015619.
    H-InvDB HIX0014854.
    HGNCi HGNC:26820. CYP4F22.
    HPAi HPA029875.
    MIMi 604777. phenotype.
    611495. gene.
    neXtProti NX_Q6NT55.
    Orphaneti 313. Lamellar ichthyosis.
    PharmGKBi PA162383112.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2124.
    HOGENOMi HOG000233833.
    HOVERGENi HBG000182.
    InParanoidi Q6NT55.
    KOi K17731.
    OMAi HHVILVW.
    OrthoDBi EOG7CNZFK.
    PhylomeDBi Q6NT55.
    TreeFami TF105088.

    Enzyme and pathway databases

    Reactomei REACT_13425. Miscellaneous substrates.
    REACT_13645. Eicosanoids.
    REACT_13814. Fatty acids.
    REACT_150420. Synthesis of Leukotrienes (LT) and Eoxins (EX).

    Miscellaneous databases

    GeneWikii CYP4F22.
    GenomeRNAii 126410.
    NextBioi 81824.
    PROi Q6NT55.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q6NT55.
    CleanExi HS_CYP4F22.
    Genevestigatori Q6NT55.

    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. "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].
      Tissue: Prostate.
    2. "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].
    3. Cited for: VARIANTS ARCI5 LEU-59; HIS-243; TRP-372; TYR-435 AND ASP-436.

    Entry informationi

    Entry nameiCP4FN_HUMAN
    AccessioniPrimary (citable) accession number: Q6NT55
    Secondary accession number(s): Q8N8H4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 10, 2007
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 101 of the entry and version 1 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 19
      Human chromosome 19: 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