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Q6NT55 (CP4FN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cytochrome P450 4F22

EC=1.14.14.-
Gene names
Name:CYP4F22
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length531 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Cofactor

Heme group By similarity.

Subcellular location

Endoplasmic reticulum membrane; Peripheral membrane protein By similarity. Microsome membrane; Peripheral membrane protein By similarity.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3

Sequence similarities

Belongs to the cytochrome P450 family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 531531Cytochrome P450 4F22
PRO_0000293731

Sites

Metal binding4751Iron (heme axial ligand) By similarity
Binding site3351Heme (covalent; via 1 link) By similarity

Natural variations

Natural variant591F → L in ARCI5. Ref.3
VAR_037441
Natural variant1781S → C.
Corresponds to variant rs16980531 [ dbSNP | Ensembl ].
VAR_033118
Natural variant2431R → H in ARCI5. Ref.3
VAR_037442
Natural variant3721R → W in ARCI5. Ref.3
VAR_037443
Natural variant4351H → Y in ARCI5. Ref.3
VAR_037444
Natural variant4361H → D in ARCI5. Ref.3
VAR_037445
Natural variant5051K → Q.
Corresponds to variant rs7256787 [ dbSNP | Ensembl ].
VAR_033119

Experimental info

Sequence conflict1251I → T in BAC04868. Ref.1
Sequence conflict2881Q → R in BAC04868. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q6NT55 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: 32E801893EB8C536

FASTA53161,958
        10         20         30         40         50         60 
MLPITDRLLH LLGLEKTAFR IYAVSTLLLF LLFFLFRLLL RFLRLCRSFY ITCRRLRCFP 

        70         80         90        100        110        120 
QPPRRNWLLG HLGMYLPNEA GLQDEKKVLD NMHHVLLVWM GPVLPLLVLV HPDYIKPLLG 

       130        140        150        160        170        180 
ASAAIAPKDD LFYGFLKPWL GDGLLLSKGD KWSRHRRLLT PAFHFDILKP YMKIFNQSAD 

       190        200        210        220        230        240 
IMHAKWRHLA EGSAVSLDMF EHISLMTLDS LQKCVFSYNS NCQEKMSDYI SAIIELSALS 

       250        260        270        280        290        300 
VRRQYRLHHY LDFIYYRSAD GRRFRQACDM VHHFTTEVIQ ERRRALRQQG AEAWLKAKQG 

       310        320        330        340        350        360 
KTLDFIDVLL LARDEDGKEL SDEDIRAEAD TFMFEGHDTT SSGISWMLFN LAKYPEYQEK 

       370        380        390        400        410        420 
CREEIQEVMK GRELEELEWD DLTQLPFTTM CIKESLRQYP PVTLVSRQCT EDIKLPDGRI 

       430        440        450        460        470        480 
IPKGIICLVS IYGTHHNPTV WPDSKVYNPY RFDPDNPQQR SPLAYVPFSA GPRNCIGQSF 

       490        500        510        520        530 
AMAELRVVVA LTLLRFRLSV DRTRKVRRKP ELILRTENGL WLKVEPLPPR A 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3."
Lefevre C., Bouadjar B., Ferrand V., Tadini G., Megarbane A., Lathrop M., Prud'homme J.-F., Fischer J.
Hum. Mol. Genet. 15:767-776(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ARCI5 LEU-59; HIS-243; TRP-372; TYR-435 AND ASP-436.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK096820 mRNA. Translation: BAC04868.1.
BC069351 mRNA. Translation: AAH69351.1.
BC093894 mRNA. Translation: AAH93894.1.
BC093896 mRNA. Translation: AAH93896.1.
RefSeqNP_775754.2. NM_173483.3.
UniGeneHs.156452.

3D structure databases

ProteinModelPortalQ6NT55.
SMRQ6NT55. Positions 59-530.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125990. 1 interaction.
STRING9606.ENSP00000269703.

PTM databases

PhosphoSiteQ6NT55.

Polymorphism databases

DMDM74748981.

Proteomic databases

PaxDbQ6NT55.
PRIDEQ6NT55.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000269703; ENSP00000269703; ENSG00000171954.
ENST00000601005; ENSP00000469866; ENSG00000171954.
GeneID126410.
KEGGhsa:126410.
UCSCuc002nbh.4. human.

Organism-specific databases

CTD126410.
GeneCardsGC19P015619.
H-InvDBHIX0014854.
HGNCHGNC:26820. CYP4F22.
HPAHPA029875.
MIM604777. phenotype.
611495. gene.
neXtProtNX_Q6NT55.
Orphanet313. Lamellar ichthyosis.
PharmGKBPA162383112.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2124.
HOGENOMHOG000233833.
HOVERGENHBG000182.
InParanoidQ6NT55.
KOK17731.
OMAHHVILVW.
OrthoDBEOG7CNZFK.
PhylomeDBQ6NT55.
TreeFamTF105088.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

BgeeQ6NT55.
CleanExHS_CYP4F22.
GenevestigatorQ6NT55.

Family and domain databases

Gene3D1.10.630.10. 1 hit.
InterProIPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002401. Cyt_P450_E_grp-I.
[Graphical view]
PfamPF00067. p450. 1 hit.
[Graphical view]
PRINTSPR00463. EP450I.
PR00385. P450.
SUPFAMSSF48264. SSF48264. 1 hit.
PROSITEPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCYP4F22.
GenomeRNAi126410.
NextBio81824.
PROQ6NT55.
SOURCESearch...

Entry information

Entry nameCP4FN_HUMAN
AccessionPrimary (citable) accession number: Q6NT55
Secondary accession number(s): Q8N8H4
Entry history
Integrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: July 5, 2004
Last modified: March 19, 2014
This is version 96 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM