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Q6ZWL3

- CP4V2_HUMAN

UniProt

Q6ZWL3 - CP4V2_HUMAN

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Protein
Cytochrome P450 4V2
Gene
CYP4V2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.1 Publication

Cofactori

Heme group By similarity.

Enzyme regulationi

Inhibited by N-hydroxy-N'-(4-n-butyl-2-methylphenyl formamidine)(HET0016) with an IC50 of 38 nM.1 Publication

Kineticsi

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

  1. KM=65 µM for myristic acid1 Publication
  2. KM=140 µM for lauric acid
  3. KM=430 µM for palmitic acid

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei329 – 3291Heme (covalent; via 1 link) By similarity
Metal bindingi467 – 4671Iron (heme axial ligand) By similarity

GO - Molecular functioni

  1. heme binding Source: InterPro
  2. iron ion binding Source: InterPro
  3. monooxygenase activity Source: UniProtKB-KW
  4. oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen Source: InterPro
Complete GO annotation...

GO - Biological processi

  1. fatty acid omega-oxidation Source: UniProtKB
  2. response to stimulus Source: UniProtKB-KW
  3. visual perception Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Monooxygenase, Oxidoreductase

Keywords - Biological processi

Sensory transduction, Vision

Keywords - Ligandi

Heme, Iron, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome P450 4V2 (EC:1.14.13.-)
Gene namesi
Name:CYP4V2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:23198. CYP4V2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei13 – 3321Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti44 – 441W → R in BCD. 1 Publication
VAR_023084
Natural varianti61 – 611G → S in BCD. 1 Publication
VAR_023085
Natural varianti79 – 791E → D in BCD. 1 Publication
VAR_023086
Natural varianti111 – 1111I → T in BCD. 1 Publication
VAR_023087
Natural varianti123 – 1231M → V in BCD. 1 Publication
Corresponds to variant rs149684063 [ dbSNP | Ensembl ].
VAR_023088
Natural varianti331 – 3311H → P in BCD. 1 Publication
VAR_023089
Natural varianti341 – 3411S → P in BCD. 1 Publication
VAR_023090
Natural varianti508 – 5081R → H in BCD. 1 Publication
VAR_023091

Keywords - Diseasei

Corneal dystrophy, Disease mutation

Organism-specific databases

MIMi210370. phenotype.
Orphaneti41751. Bietti crystalline dystrophy.
791. Retinitis pigmentosa.
PharmGKBiPA134912942.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 525525Cytochrome P450 4V2
PRO_0000051859Add
BLAST

Proteomic databases

MaxQBiQ6ZWL3.
PaxDbiQ6ZWL3.
PRIDEiQ6ZWL3.

PTM databases

PhosphoSiteiQ6ZWL3.

Expressioni

Tissue specificityi

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

Gene expression databases

ArrayExpressiQ6ZWL3.
BgeeiQ6ZWL3.
GenevestigatoriQ6ZWL3.

Organism-specific databases

HPAiHPA029122.

Interactioni

Protein-protein interaction databases

BioGridi130113. 3 interactions.
IntActiQ6ZWL3. 1 interaction.
STRINGi9606.ENSP00000368079.

Structurei

3D structure databases

ProteinModelPortaliQ6ZWL3.
SMRiQ6ZWL3. Positions 85-520.

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG2124.
HOGENOMiHOG000233834.
HOVERGENiHBG000182.
InParanoidiQ6ZWL3.
KOiK07427.
OMAiMSEMIFR.
OrthoDBiEOG7CNZFK.
PhylomeDBiQ6ZWL3.
TreeFamiTF105088.

Family and domain databases

Gene3Di1.10.630.10. 1 hit.
InterProiIPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002401. Cyt_P450_E_grp-I.
[Graphical view]
PfamiPF00067. p450. 1 hit.
[Graphical view]
PRINTSiPR00463. EP450I.
PR00385. P450.
SUPFAMiSSF48264. SSF48264. 1 hit.
PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q6ZWL3-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MAGLWLGLVW QKLLLWGAAS ALSLAGASLV LSLLQRVASY ARKWQQMRPI    50
PTVARAYPLV GHALLMKPDG REFFQQIIEY TEEYRHMPLL KLWVGPVPMV 100
ALYNAENVEV ILTSSKQIDK SSMYKFLEPW LGLGLLTSTG NKWRSRRKML 150
TPTFHFTILE DFLDIMNEQA NILVKKLEKH INQEAFNCFF YITLCALDII 200
CETAMGKNIG AQSNDDSEYV RAVYRMSEMI FRRIKMPWLW LDLWYLMFKE 250
GWEHKKSLQI LHTFTNSVIA ERANEMNANE DCRGDGRGSA PSKNKRRAFL 300
DLLLSVTDDE GNRLSHEDIR EEVDTFMFEG HDTTAAAINW SLYLLGSNPE 350
VQKKVDHELD DVFGKSDRPA TVEDLKKLRY LECVIKETLR LFPSVPLFAR 400
SVSEDCEVAG YRVLKGTEAV IIPYALHRDP RYFPNPEEFQ PERFFPENAQ 450
GRHPYAYVPF SAGPRNCIGQ KFAVMEEKTI LSCILRHFWI ESNQKREELG 500
LEGQLILRPS NGIWIKLKRR NADER 525
Length:525
Mass (Da):60,724
Last modified:May 18, 2010 - v2
Checksum:iA26F0A517C9569AD
GO
Isoform 2 (identifier: Q6ZWL3-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     42-63: Missing.

Note: No experimental confirmation available.

Show »
Length:503
Mass (Da):58,166
Checksum:i117B6B2EC969AF96
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221L → V.1 Publication
Corresponds to variant rs1055138 [ dbSNP | Ensembl ].
VAR_038606
Natural varianti44 – 441W → R in BCD. 1 Publication
VAR_023084
Natural varianti61 – 611G → S in BCD. 1 Publication
VAR_023085
Natural varianti79 – 791E → D in BCD. 1 Publication
VAR_023086
Natural varianti111 – 1111I → T in BCD. 1 Publication
VAR_023087
Natural varianti123 – 1231M → V in BCD. 1 Publication
Corresponds to variant rs149684063 [ dbSNP | Ensembl ].
VAR_023088
Natural varianti213 – 2131S → N.1 Publication
Corresponds to variant rs34331648 [ dbSNP | Ensembl ].
VAR_038607
Natural varianti259 – 2591Q → K.3 Publications
Corresponds to variant rs13146272 [ dbSNP | Ensembl ].
VAR_033821
Natural varianti275 – 2751E → K.1 Publication
Corresponds to variant rs34745240 [ dbSNP | Ensembl ].
VAR_055379
Natural varianti331 – 3311H → P in BCD. 1 Publication
VAR_023089
Natural varianti341 – 3411S → P in BCD. 1 Publication
VAR_023090
Natural varianti372 – 3721V → I.1 Publication
Corresponds to variant rs61755911 [ dbSNP | Ensembl ].
VAR_055380
Natural varianti443 – 4431R → Q.1 Publication
Corresponds to variant rs72646291 [ dbSNP | Ensembl ].
VAR_055381
Natural varianti508 – 5081R → H in BCD. 1 Publication
VAR_023091

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei42 – 6322Missing in isoform 2.
VSP_014918Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS34119.1. [Q6ZWL3-1]
RefSeqiNP_997235.3. NM_207352.3. [Q6ZWL3-1]
UniGeneiHs.587231.

Genome annotation databases

EnsembliENST00000378802; ENSP00000368079; ENSG00000145476. [Q6ZWL3-1]
GeneIDi285440.
KEGGihsa:285440.
UCSCiuc003iyw.4. human. [Q6ZWL3-1]

Polymorphism databases

DMDMi296434466.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS34119.1. [Q6ZWL3-1 ]
RefSeqi NP_997235.3. NM_207352.3. [Q6ZWL3-1 ]
UniGenei Hs.587231.

3D structure databases

ProteinModelPortali Q6ZWL3.
SMRi Q6ZWL3. Positions 85-520.
ModBasei Search...

Protein-protein interaction databases

BioGridi 130113. 3 interactions.
IntActi Q6ZWL3. 1 interaction.
STRINGi 9606.ENSP00000368079.

PTM databases

PhosphoSitei Q6ZWL3.

Polymorphism databases

DMDMi 296434466.

Proteomic databases

MaxQBi Q6ZWL3.
PaxDbi Q6ZWL3.
PRIDEi Q6ZWL3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000378802 ; ENSP00000368079 ; ENSG00000145476 . [Q6ZWL3-1 ]
GeneIDi 285440.
KEGGi hsa:285440.
UCSCi uc003iyw.4. human. [Q6ZWL3-1 ]

Organism-specific databases

CTDi 285440.
GeneCardsi GC04P187112.
GeneReviewsi CYP4V2.
H-InvDBi HIX0004688.
HGNCi HGNC:23198. CYP4V2.
HPAi HPA029122.
MIMi 210370. phenotype.
608614. gene.
neXtProti NX_Q6ZWL3.
Orphaneti 41751. Bietti crystalline dystrophy.
791. Retinitis pigmentosa.
PharmGKBi PA134912942.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2124.
HOGENOMi HOG000233834.
HOVERGENi HBG000182.
InParanoidi Q6ZWL3.
KOi K07427.
OMAi MSEMIFR.
OrthoDBi EOG7CNZFK.
PhylomeDBi Q6ZWL3.
TreeFami TF105088.

Miscellaneous databases

GeneWikii CYP4V2.
GenomeRNAii 285440.
NextBioi 95523.
PROi Q6ZWL3.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q6ZWL3.
Bgeei Q6ZWL3.
Genevestigatori Q6ZWL3.

Family and domain databases

Gene3Di 1.10.630.10. 1 hit.
InterProi IPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002401. Cyt_P450_E_grp-I.
[Graphical view ]
Pfami PF00067. p450. 1 hit.
[Graphical view ]
PRINTSi PR00463. EP450I.
PR00385. P450.
SUPFAMi SSF48264. SSF48264. 1 hit.
PROSITEi PS00086. CYTOCHROME_P450. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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.
    , 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.

Entry informationi

Entry nameiCP4V2_HUMAN
AccessioniPrimary (citable) accession number: Q6ZWL3
Secondary accession number(s): B7U6W2, Q6ZTM4
Entry historyi
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 statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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