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Q6NT55

- CP4FN_HUMAN

UniProt

Q6NT55 - CP4FN_HUMAN

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Protein

Cytochrome P450 4F22

Gene

CYP4F22

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli

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
Complete GO annotation...

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 Source: UniProtKB-KW
  2. membrane Source: UniProtKB-KW
Complete GO annotation...

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.
GeneTreeiENSGT00760000118816.
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

        10         20         30         40         50
MLPITDRLLH LLGLEKTAFR IYAVSTLLLF LLFFLFRLLL RFLRLCRSFY
60 70 80 90 100
ITCRRLRCFP QPPRRNWLLG HLGMYLPNEA GLQDEKKVLD NMHHVLLVWM
110 120 130 140 150
GPVLPLLVLV HPDYIKPLLG ASAAIAPKDD LFYGFLKPWL GDGLLLSKGD
160 170 180 190 200
KWSRHRRLLT PAFHFDILKP YMKIFNQSAD IMHAKWRHLA EGSAVSLDMF
210 220 230 240 250
EHISLMTLDS LQKCVFSYNS NCQEKMSDYI SAIIELSALS VRRQYRLHHY
260 270 280 290 300
LDFIYYRSAD GRRFRQACDM VHHFTTEVIQ ERRRALRQQG AEAWLKAKQG
310 320 330 340 350
KTLDFIDVLL LARDEDGKEL SDEDIRAEAD TFMFEGHDTT SSGISWMLFN
360 370 380 390 400
LAKYPEYQEK CREEIQEVMK GRELEELEWD DLTQLPFTTM CIKESLRQYP
410 420 430 440 450
PVTLVSRQCT EDIKLPDGRI IPKGIICLVS IYGTHHNPTV WPDSKVYNPY
460 470 480 490 500
RFDPDNPQQR SPLAYVPFSA GPRNCIGQSF AMAELRVVVA LTLLRFRLSV
510 520 530
DRTRKVRRKP ELILRTENGL WLKVEPLPPR A
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.
GeneTreei ENSGT00760000118816.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 102 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