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Q6ZWL3 (CP4V2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 112. 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·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cytochrome P450 4V2

EC=1.14.13.-
Gene names
Name:CYP4V2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length525 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Catalyzes the omega-hydroxylation of medium-chain saturated fatty acids such as laurate, myristate and palmitate in an NADPH-dependent pathway. The substrate specificity is higher for myristate > laurate > palmitate (C14>C16>C12). May have a role in fatty acid and steroid metabolism in the eye. Ref.6

Cofactor

Heme group By similarity.

Enzyme regulation

Inhibited by N-hydroxy-N'-(4-n-butyl-2-methylphenyl formamidine)(HET0016) with an IC50 of 38 nM. Ref.6

Subcellular location

Endoplasmic reticulum membrane; Single-pass membrane protein Potential.

Tissue specificity

Broadly expressed. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, retina, retinal pigment epithelium (RPE) and lymphocytes. Ref.1

Involvement in disease

Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]: An autosomal recessive ocular disease characterized by retinal degeneration and marginal corneal dystrophy. Typical features include multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most patients have similar crystals at the corneoscleral limbus. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, they develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1

Sequence similarities

Belongs to the cytochrome P450 family.

Biophysicochemical properties

Kinetic parameters:

Vmax is the nearly the same for myristic acid and for lauric acid and reduced about 30% for palmitic acid.

KM=65 µM for myristic acid Ref.6

KM=140 µM for lauric acid

KM=430 µM for palmitic acid

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6ZWL3-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q6ZWL3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     42-63: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 525525Cytochrome P450 4V2
PRO_0000051859

Regions

Transmembrane13 – 3321Helical; Potential

Sites

Metal binding4671Iron (heme axial ligand) By similarity
Binding site3291Heme (covalent; via 1 link) By similarity

Natural variations

Alternative sequence42 – 6322Missing in isoform 2.
VSP_014918
Natural variant221L → V. Ref.3
Corresponds to variant rs1055138 [ dbSNP | Ensembl ].
VAR_038606
Natural variant441W → R in BCD. Ref.1
VAR_023084
Natural variant611G → S in BCD. Ref.1
VAR_023085
Natural variant791E → D in BCD. Ref.1
VAR_023086
Natural variant1111I → T in BCD. Ref.1
VAR_023087
Natural variant1231M → V in BCD. Ref.1
Corresponds to variant rs149684063 [ dbSNP | Ensembl ].
VAR_023088
Natural variant2131S → N. Ref.3
Corresponds to variant rs34331648 [ dbSNP | Ensembl ].
VAR_038607
Natural variant2591Q → K. Ref.1 Ref.2 Ref.5
Corresponds to variant rs13146272 [ dbSNP | Ensembl ].
VAR_033821
Natural variant2751E → K. Ref.3
Corresponds to variant rs34745240 [ dbSNP | Ensembl ].
VAR_055379
Natural variant3311H → P in BCD. Ref.1
VAR_023089
Natural variant3411S → P in BCD. Ref.1
VAR_023090
Natural variant3721V → I. Ref.3
Corresponds to variant rs61755911 [ dbSNP | Ensembl ].
VAR_055380
Natural variant4431R → Q. Ref.3
Corresponds to variant rs72646291 [ dbSNP | Ensembl ].
VAR_055381
Natural variant5081R → H in BCD. Ref.1
VAR_023091

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: A26F0A517C9569AD

FASTA52560,724
        10         20         30         40         50         60 
MAGLWLGLVW QKLLLWGAAS ALSLAGASLV LSLLQRVASY ARKWQQMRPI PTVARAYPLV 

        70         80         90        100        110        120 
GHALLMKPDG REFFQQIIEY TEEYRHMPLL KLWVGPVPMV ALYNAENVEV ILTSSKQIDK 

       130        140        150        160        170        180 
SSMYKFLEPW LGLGLLTSTG NKWRSRRKML TPTFHFTILE DFLDIMNEQA NILVKKLEKH 

       190        200        210        220        230        240 
INQEAFNCFF YITLCALDII CETAMGKNIG AQSNDDSEYV RAVYRMSEMI FRRIKMPWLW 

       250        260        270        280        290        300 
LDLWYLMFKE GWEHKKSLQI LHTFTNSVIA ERANEMNANE DCRGDGRGSA PSKNKRRAFL 

       310        320        330        340        350        360 
DLLLSVTDDE GNRLSHEDIR EEVDTFMFEG HDTTAAAINW SLYLLGSNPE VQKKVDHELD 

       370        380        390        400        410        420 
DVFGKSDRPA TVEDLKKLRY LECVIKETLR LFPSVPLFAR SVSEDCEVAG YRVLKGTEAV 

       430        440        450        460        470        480 
IIPYALHRDP RYFPNPEEFQ PERFFPENAQ GRHPYAYVPF SAGPRNCIGQ KFAVMEEKTI 

       490        500        510        520 
LSCILRHFWI ESNQKREELG LEGQLILRPS NGIWIKLKRR NADER 

« Hide

Isoform 2 [UniParc].

Checksum: 117B6B2EC969AF96
Show »

FASTA50358,166

References

« Hide 'large scale' references
[1]"Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2."
Li A., Jiao X., Munier F.L., Schorderet D.F., Yao W., Iwata F., Hayakawa M., Kanai A., Shy Chen M., Alan Lewis R., Heckenlively J., Weleber R.G., Traboulsi E.I., Zhang Q., Xiao X., Kaiser-Kupfer M., Sergeev Y.V., Hejtmancik J.F.
Am. J. Hum. Genet. 74:817-826(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANTS BCD ARG-44; SER-61; ASP-79; THR-111; VAL-123; LYS-259; PRO-331; PRO-341 AND HIS-508.
Tissue: Retina.
[2]"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] (ISOFORMS 1 AND 2), VARIANT LYS-259.
Tissue: Kidney and Uterus.
[3]NIEHS SNPs program
Submitted (NOV-2008) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-22; ASN-213; LYS-275; ILE-372 AND GLN-443.
[4]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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] (ISOFORM 1), VARIANT LYS-259.
Tissue: Placenta.
[6]"Expression and characterization of CYP4V2 as a fatty acid omega-hydroxylase."
Nakano M., Kelly E.J., Rettie A.E.
Drug Metab. Dispos. 37:2119-2122(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: CATALYTIC ACTIVITY, FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, SUBSTRATE SPECIFICITY, ENZYME REGULATION.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY422002 mRNA. Translation: AAR31180.1.
AK122600 mRNA. Translation: BAC85487.1.
AK126473 mRNA. Translation: BAC86562.1.
FJ440682 Genomic DNA. Translation: ACK44069.1.
AC110771 Genomic DNA. No translation available.
BC060857 mRNA. Translation: AAH60857.1.
CCDSCCDS34119.1. [Q6ZWL3-1]
RefSeqNP_997235.3. NM_207352.3. [Q6ZWL3-1]
UniGeneHs.587231.

3D structure databases

ProteinModelPortalQ6ZWL3.
SMRQ6ZWL3. Positions 85-520.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid130113. 3 interactions.
IntActQ6ZWL3. 1 interaction.
STRING9606.ENSP00000368079.

PTM databases

PhosphoSiteQ6ZWL3.

Polymorphism databases

DMDM296434466.

Proteomic databases

MaxQBQ6ZWL3.
PaxDbQ6ZWL3.
PRIDEQ6ZWL3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000378802; ENSP00000368079; ENSG00000145476. [Q6ZWL3-1]
GeneID285440.
KEGGhsa:285440.
UCSCuc003iyw.4. human. [Q6ZWL3-1]

Organism-specific databases

CTD285440.
GeneCardsGC04P187112.
GeneReviewsCYP4V2.
H-InvDBHIX0004688.
HGNCHGNC:23198. CYP4V2.
HPAHPA029122.
MIM210370. phenotype.
608614. gene.
neXtProtNX_Q6ZWL3.
Orphanet41751. Bietti crystalline dystrophy.
791. Retinitis pigmentosa.
PharmGKBPA134912942.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2124.
HOGENOMHOG000233834.
HOVERGENHBG000182.
InParanoidQ6ZWL3.
KOK07427.
OMAMSEMIFR.
OrthoDBEOG7CNZFK.
PhylomeDBQ6ZWL3.
TreeFamTF105088.

Gene expression databases

ArrayExpressQ6ZWL3.
BgeeQ6ZWL3.
GenevestigatorQ6ZWL3.

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

GeneWikiCYP4V2.
GenomeRNAi285440.
NextBio95523.
PROQ6ZWL3.
SOURCESearch...

Entry information

Entry nameCP4V2_HUMAN
AccessionPrimary (citable) accession number: Q6ZWL3
Secondary accession number(s): B7U6W2, Q6ZTM4
Entry history
Integrated into UniProtKB/Swiss-Prot: August 2, 2005
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 112 of the entry and version 2 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 4

Human chromosome 4: entries, gene names and cross-references to MIM