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Protein

Cytochrome P450 4F22

Gene

CYP4F22

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

Functioni

Cofactori

hemeBy 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

GO - Biological processi

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).
REACT_268441. Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5).

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 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:26820. CYP4F22.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Involvement in diseasei

Ichthyosis, congenital, autosomal recessive 5 (ARCI5)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:604777
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.

Polymorphism and mutation databases

BioMutaiCYP4F22.
DMDMi74748981.

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.
GenevisibleiQ6NT55. HS.

Organism-specific databases

HPAiHPA029875.
HPA058960.

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.
OMAiIWLKVEP.
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:
EMBLi
GenBanki
DDBJi
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.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi125990. 1 interaction.
STRINGi9606.ENSP00000269703.

PTM databases

PhosphoSiteiQ6NT55.

Polymorphism and mutation databases

BioMutaiCYP4F22.
DMDMi74748981.

Proteomic databases

PaxDbiQ6NT55.
PRIDEiQ6NT55.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi126410.
GeneCardsiGC19P015619.
H-InvDBHIX0014854.
HGNCiHGNC:26820. CYP4F22.
HPAiHPA029875.
HPA058960.
MIMi604777. phenotype.
611495. gene.
neXtProtiNX_Q6NT55.
Orphaneti313. Lamellar ichthyosis.
PharmGKBiPA162383112.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG2124.
GeneTreeiENSGT00760000118816.
HOGENOMiHOG000233833.
HOVERGENiHBG000182.
InParanoidiQ6NT55.
KOiK17731.
OMAiIWLKVEP.
OrthoDBiEOG7CNZFK.
PhylomeDBiQ6NT55.
TreeFamiTF105088.

Enzyme and pathway databases

ReactomeiREACT_13425. Miscellaneous substrates.
REACT_13645. Eicosanoids.
REACT_13814. Fatty acids.
REACT_150420. Synthesis of Leukotrienes (LT) and Eoxins (EX).
REACT_268441. Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5).

Miscellaneous databases

GeneWikiiCYP4F22.
GenomeRNAii126410.
NextBioi81824.
PROiQ6NT55.
SOURCEiSearch...

Gene expression databases

BgeeiQ6NT55.
CleanExiHS_CYP4F22.
GenevisibleiQ6NT55. HS.

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]
ProtoNetiSearch...

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: June 24, 2015
This is version 108 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.