Homo sapiens Protein: CYP4F22
Summary
InnateDB Protein IDBP-34784.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CYP4F22
Protein Name cytochrome P450, family 4, subfamily F, polypeptide 22
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000269703
InnateDB Gene IDBG-34782 (CYP4F22)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Endoplasmic reticulum membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Microsome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
Disease Associations 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. {ECO:0000269PubMed:16436457}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004497 monooxygenase activity
GO:0005506 iron ion binding
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0020037 heme binding
Biological Process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005789 endoplasmic reticulum membrane
Protein Structure and Domains
PDB ID
InterPro IPR001128 Cytochrome P450
IPR002401 Cytochrome P450, E-class, group I
IPR002402 Cytochrome P450, E-class, group II
IPR002403 Cytochrome P450, E-class, group IV
PFAM PF00067
PRINTS PR00385
PR00463
PR00464
PR00465
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q6NT55
PhosphoSite PhosphoSite-Q6NT55
TrEMBL
UniProt Splice Variant
Entrez Gene 126410
UniGene Hs.156452
RefSeq NP_775754
HUGO HGNC:26820
OMIM 611495
CCDS CCDS12331
HPRD 08256
IMGT
EMBL AK096820 BC069351 BC093894 BC093896
GenPept AAH69351 AAH93894 AAH93896 BAC04868