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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)DescriptionActionsGraphical viewLength
Binding sitei335Heme (covalent; via 1 link)By similarity1
Metal bindingi475Iron (heme axial ligand)By similarity1

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

ReactomeiR-HSA-211935. Fatty acids.
R-HSA-211958. Miscellaneous substrates.
R-HSA-211979. Eicosanoids.
R-HSA-2142691. Synthesis of Leukotrienes (LT) and Eoxins (EX).

Chemistry databases

SwissLipidsiSLP:000001622.

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
Proteomesi
  • UP000005640 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_03744159F → L in ARCI5. 1 PublicationCorresponds to variant rs118091316dbSNPEnsembl.1
Natural variantiVAR_037442243R → H in ARCI5. 1 PublicationCorresponds to variant rs118203937dbSNPEnsembl.1
Natural variantiVAR_037443372R → W in ARCI5. 1 PublicationCorresponds to variant rs201129618dbSNPEnsembl.1
Natural variantiVAR_037444435H → Y in ARCI5. 1 PublicationCorresponds to variant rs118203935dbSNPEnsembl.1
Natural variantiVAR_037445436H → D in ARCI5. 1 PublicationCorresponds to variant rs118203936dbSNPEnsembl.1

Keywords - Diseasei

Ichthyosis

Organism-specific databases

DisGeNETi126410.
MalaCardsiCYP4F22.
MIMi604777. phenotype.
OpenTargetsiENSG00000171954.
Orphaneti313. Lamellar ichthyosis.
PharmGKBiPA162383112.

Polymorphism and mutation databases

BioMutaiCYP4F22.
DMDMi74748981.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002937311 – 531Cytochrome P450 4F22Add BLAST531

Proteomic databases

MaxQBiQ6NT55.
PaxDbiQ6NT55.
PeptideAtlasiQ6NT55.
PRIDEiQ6NT55.

PTM databases

iPTMnetiQ6NT55.
PhosphoSitePlusiQ6NT55.

Expressioni

Gene expression databases

BgeeiENSG00000171954.
CleanExiHS_CYP4F22.
GenevisibleiQ6NT55. HS.

Organism-specific databases

HPAiHPA029875.
HPA058960.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000269703.

Structurei

3D structure databases

ProteinModelPortaliQ6NT55.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Phylogenomic databases

eggNOGiKOG0157. Eukaryota.
COG2124. LUCA.
GeneTreeiENSGT00760000118816.
HOGENOMiHOG000233833.
HOVERGENiHBG000182.
InParanoidiQ6NT55.
KOiK17731.
OMAiRLCRSFY.
OrthoDBiEOG091G06KN.
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)DescriptionActionsGraphical viewLength
Sequence conflicti125I → T in BAC04868 (PubMed:14702039).Curated1
Sequence conflicti288Q → R in BAC04868 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03744159F → L in ARCI5. 1 PublicationCorresponds to variant rs118091316dbSNPEnsembl.1
Natural variantiVAR_033118178S → C.Corresponds to variant rs16980531dbSNPEnsembl.1
Natural variantiVAR_037442243R → H in ARCI5. 1 PublicationCorresponds to variant rs118203937dbSNPEnsembl.1
Natural variantiVAR_037443372R → W in ARCI5. 1 PublicationCorresponds to variant rs201129618dbSNPEnsembl.1
Natural variantiVAR_037444435H → Y in ARCI5. 1 PublicationCorresponds to variant rs118203935dbSNPEnsembl.1
Natural variantiVAR_037445436H → D in ARCI5. 1 PublicationCorresponds to variant rs118203936dbSNPEnsembl.1
Natural variantiVAR_033119505K → Q.Corresponds to variant rs7256787dbSNPEnsembl.1

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.
XP_011525994.1. XM_011527692.2.
XP_011525995.1. XM_011527693.2.
UniGeneiHs.156452.

Genome annotation databases

EnsembliENST00000269703; ENSP00000269703; ENSG00000171954.
ENST00000601005; ENSP00000469866; ENSG00000171954.
GeneIDi126410.
KEGGihsa:126410.
UCSCiuc002nbh.5. 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.
XP_011525994.1. XM_011527692.2.
XP_011525995.1. XM_011527693.2.
UniGeneiHs.156452.

3D structure databases

ProteinModelPortaliQ6NT55.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000269703.

Chemistry databases

SwissLipidsiSLP:000001622.

PTM databases

iPTMnetiQ6NT55.
PhosphoSitePlusiQ6NT55.

Polymorphism and mutation databases

BioMutaiCYP4F22.
DMDMi74748981.

Proteomic databases

MaxQBiQ6NT55.
PaxDbiQ6NT55.
PeptideAtlasiQ6NT55.
PRIDEiQ6NT55.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000269703; ENSP00000269703; ENSG00000171954.
ENST00000601005; ENSP00000469866; ENSG00000171954.
GeneIDi126410.
KEGGihsa:126410.
UCSCiuc002nbh.5. human.

Organism-specific databases

CTDi126410.
DisGeNETi126410.
GeneCardsiCYP4F22.
H-InvDBHIX0014854.
HGNCiHGNC:26820. CYP4F22.
HPAiHPA029875.
HPA058960.
MalaCardsiCYP4F22.
MIMi604777. phenotype.
611495. gene.
neXtProtiNX_Q6NT55.
OpenTargetsiENSG00000171954.
Orphaneti313. Lamellar ichthyosis.
PharmGKBiPA162383112.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0157. Eukaryota.
COG2124. LUCA.
GeneTreeiENSGT00760000118816.
HOGENOMiHOG000233833.
HOVERGENiHBG000182.
InParanoidiQ6NT55.
KOiK17731.
OMAiRLCRSFY.
OrthoDBiEOG091G06KN.
PhylomeDBiQ6NT55.
TreeFamiTF105088.

Enzyme and pathway databases

ReactomeiR-HSA-211935. Fatty acids.
R-HSA-211958. Miscellaneous substrates.
R-HSA-211979. Eicosanoids.
R-HSA-2142691. Synthesis of Leukotrienes (LT) and Eoxins (EX).

Miscellaneous databases

GeneWikiiCYP4F22.
GenomeRNAii126410.
PROiQ6NT55.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171954.
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...

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: November 30, 2016
This is version 121 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

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 one 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.