Homo sapiens Protein: CYP4F22 | |||||||||||||||||||
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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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF00067
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PRINTS |
PR00385
PR00463 PR00464 PR00465 |
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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 | ||||||||||||||||||