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Protein

Cytochrome P450 4F22

Gene

CYP4F22

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionMonooxygenase, Oxidoreductase
LigandHeme, Iron, Metal-binding

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)
R-HSA-5579005 Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5)

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

EuPathDBiHostDB:ENSG00000171954.12
HGNCiHGNC:26820 CYP4F22
MIMi611495 gene
neXtProtiNX_Q6NT55

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs118091316EnsemblClinVar.1
Natural variantiVAR_037442243R → H in ARCI5. 1 PublicationCorresponds to variant dbSNP:rs118203937EnsemblClinVar.1
Natural variantiVAR_037443372R → W in ARCI5. 1 PublicationCorresponds to variant dbSNP:rs201129618EnsemblClinVar.1
Natural variantiVAR_037444435H → Y in ARCI5. 1 PublicationCorresponds to variant dbSNP:rs118203935EnsemblClinVar.1
Natural variantiVAR_037445436H → D in ARCI5. 1 PublicationCorresponds to variant dbSNP:rs118203936EnsemblClinVar.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
ProteomicsDBi66660

PTM databases

iPTMnetiQ6NT55
PhosphoSitePlusiQ6NT55

Expressioni

Gene expression databases

BgeeiENSG00000171954 Expressed in 60 organ(s), highest expression level in lower esophagus mucosa
CleanExiHS_CYP4F22
GenevisibleiQ6NT55 HS

Organism-specific databases

HPAiHPA058960

Interactioni

Protein-protein interaction databases

IntActiQ6NT55, 4 interactors
STRINGi9606.ENSP00000269703

Structurei

3D structure databases

ProteinModelPortaliQ6NT55
SMRiQ6NT55
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Phylogenomic databases

eggNOGiKOG0157 Eukaryota
COG2124 LUCA
GeneTreeiENSGT00900000140829
HOGENOMiHOG000233833
HOVERGENiHBG000182
InParanoidiQ6NT55
KOiK17731
OMAiFNQCTDI
OrthoDBiEOG091G06KN
PhylomeDBiQ6NT55
TreeFamiTF105088

Family and domain databases

Gene3Di1.10.630.10, 1 hit
InterProiView protein in InterPro
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002401 Cyt_P450_E_grp-I
IPR036396 Cyt_P450_sf
PfamiView protein in Pfam
PF00067 p450, 1 hit
PRINTSiPR00463 EP450I
PR00385 P450
SUPFAMiSSF48264 SSF48264, 1 hit
PROSITEiView protein in PROSITE
PS00086 CYTOCHROME_P450, 1 hit

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 dbSNP:rs118091316EnsemblClinVar.1
Natural variantiVAR_033118178S → C. Corresponds to variant dbSNP:rs16980531EnsemblClinVar.1
Natural variantiVAR_037442243R → H in ARCI5. 1 PublicationCorresponds to variant dbSNP:rs118203937EnsemblClinVar.1
Natural variantiVAR_037443372R → W in ARCI5. 1 PublicationCorresponds to variant dbSNP:rs201129618EnsemblClinVar.1
Natural variantiVAR_037444435H → Y in ARCI5. 1 PublicationCorresponds to variant dbSNP:rs118203935EnsemblClinVar.1
Natural variantiVAR_037445436H → D in ARCI5. 1 PublicationCorresponds to variant dbSNP:rs118203936EnsemblClinVar.1
Natural variantiVAR_033119505K → Q. Corresponds to variant dbSNP:rs7256787EnsemblClinVar.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

Similar proteinsi

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
SMRiQ6NT55
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ6NT55, 4 interactors
STRINGi9606.ENSP00000269703

Chemistry databases

SwissLipidsiSLP:000001622

PTM databases

iPTMnetiQ6NT55
PhosphoSitePlusiQ6NT55

Polymorphism and mutation databases

BioMutaiCYP4F22
DMDMi74748981

Proteomic databases

MaxQBiQ6NT55
PaxDbiQ6NT55
PeptideAtlasiQ6NT55
PRIDEiQ6NT55
ProteomicsDBi66660

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
EuPathDBiHostDB:ENSG00000171954.12
GeneCardsiCYP4F22
H-InvDBiHIX0014854
HGNCiHGNC:26820 CYP4F22
HPAiHPA058960
MalaCardsiCYP4F22
MIMi604777 phenotype
611495 gene
neXtProtiNX_Q6NT55
OpenTargetsiENSG00000171954
Orphaneti313 Lamellar ichthyosis
PharmGKBiPA162383112
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0157 Eukaryota
COG2124 LUCA
GeneTreeiENSGT00900000140829
HOGENOMiHOG000233833
HOVERGENiHBG000182
InParanoidiQ6NT55
KOiK17731
OMAiFNQCTDI
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)
R-HSA-5579005 Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5)

Miscellaneous databases

GeneWikiiCYP4F22
GenomeRNAii126410
PROiPR:Q6NT55
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171954 Expressed in 60 organ(s), highest expression level in lower esophagus mucosa
CleanExiHS_CYP4F22
GenevisibleiQ6NT55 HS

Family and domain databases

Gene3Di1.10.630.10, 1 hit
InterProiView protein in InterPro
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002401 Cyt_P450_E_grp-I
IPR036396 Cyt_P450_sf
PfamiView protein in Pfam
PF00067 p450, 1 hit
PRINTSiPR00463 EP450I
PR00385 P450
SUPFAMiSSF48264 SSF48264, 1 hit
PROSITEiView protein in PROSITE
PS00086 CYTOCHROME_P450, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCP4FN_HUMAN
AccessioniPrimary (citable) accession number: Q6NT55
Secondary accession number(s): Q8N8H4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: July 5, 2004
Last modified: November 7, 2018
This is version 134 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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