Q6NT55 (CP4FN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Cytochrome P450 4F22
EC=1.14.14.-

Gene names

Name:

CYP4F22

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	531 AA.
Sequence status	Complete.
Protein existence	Evidence 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, lamellar, 3 (LI3) [MIM:604777]: A non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. It is one the most severe forms of ichthyoses apparent at birth and persisting throughout life. LI patients are born encased in a tight, shiny, translucent covering called collodion membrane. Over the first weeks of life, the collodion membrane is gradually replaced by generalized large, dark brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat intolerance and recurrent ear infections. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3
Sequence similarities	Belongs to the cytochrome P450 family.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane Microsome
Coding sequence diversity	Polymorphism
Disease	Ichthyosis
Ligand	Heme Iron Metal-binding NADP
Molecular function	Monooxygenase Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	electron carrier activity Inferred from electronic annotation. Source: InterPro heme binding Inferred from electronic annotation. Source: InterPro iron ion binding Inferred from electronic annotation. Source: InterPro monooxygenase activity Inferred from electronic annotation. Source: UniProtKB-KW oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 531	531	Cytochrome P450 4F22		PRO_0000293731
Sites
	Metal binding	475	1	Iron (heme axial ligand) By similarity
	Binding site	335	1	Heme (covalent; via 1 link) By similarity
Natural variations
	Natural variant	59	1	F → L in LI3. Ref.3		VAR_037441
	Natural variant	178	1	S → C. Corresponds to variant rs16980531 [ dbSNP | Ensembl ].		VAR_033118
	Natural variant	243	1	R → H in LI3. Ref.3		VAR_037442
	Natural variant	372	1	R → W in LI3. Ref.3		VAR_037443
	Natural variant	435	1	H → Y in LI3. Ref.3		VAR_037444
	Natural variant	436	1	H → D in LI3. Ref.3		VAR_037445
	Natural variant	505	1	K → Q. Corresponds to variant rs7256787 [ dbSNP | Ensembl ].		VAR_033119
Experimental info
	Sequence conflict	125	1	I → T in BAC04868. Ref.1
	Sequence conflict	288	1	Q → R in BAC04868. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q6NT55 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 32E801893EB8C536	FASTA	531	61,958
	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

References

	« Hide 'large scale' referencesShow '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. , 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 LI3 LEU-59; HIS-243; TRP-372; TYR-435 AND ASP-436.
+	Additional computationally mapped references.

Web resources

GeneReviews

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.
IPI	IPI00182560.
RefSeq	NP_775754.2. NM_173483.3.
UniGene	Hs.156452.
3D structure databases
HSSP	HSSP built from PDB template 1SMI based on UniProtKB P14779.
ProteinModelPortal	Q6NT55.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000269703.
PTM databases
PhosphoSite	Q6NT55.
Polymorphism databases
DMDM	74748981.
Proteomic databases
PaxDb	Q6NT55.
PRIDE	Q6NT55.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000269703; ENSP00000269703; ENSG00000171954. ENST00000601005; ENSP00000469866; ENSG00000171954.
GeneID	126410.
KEGG	hsa:126410.
UCSC	uc002nbh.4. human.
Organism-specific databases
CTD	126410.
GeneCards	GC19P015619.
H-InvDB	HIX0014854.
HGNC	HGNC:26820. CYP4F22.
HPA	HPA029875.
MIM	604777. phenotype. 611495. gene.
neXtProt	NX_Q6NT55.
Orphanet	313. Lamellar ichthyosis.
PharmGKB	PA162383112.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2124.
HOGENOM	HOG000233833.
HOVERGEN	HBG000182.
InParanoid	Q6NT55.
KO	K00490.
OMA	AKWRRLA.
OrthoDB	EOG40CHGX.
PhylomeDB	Q6NT55.
Gene expression databases
Bgee	Q6NT55.
CleanEx	HS_CYP4F22.
Genevestigator	Q6NT55.
Family and domain databases
Gene3D	1.10.630.10. 1 hit.
InterPro	IPR001128. Cyt_P450. IPR017972. Cyt_P450_CS. IPR002401. Cyt_P450_E_grp-I. [Graphical view]
Pfam	PF00067. p450. 1 hit. [Graphical view]
PRINTS	PR00463. EP450I. PR00385. P450.
SUPFAM	SSF48264. Cytochrome_P450. 1 hit.
PROSITE	PS00086. CYTOCHROME_P450. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	126410.
NextBio	81824.
SOURCE	Search...

Entry information

Entry name

CP4FN_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 87 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.