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Protein basic information

LiverAtlas Protein ID

HuLPr16154

Uniprot ID

CP4V2_HUMAN

Uniprot Acc

Q6ZWL3;B7U6W2;Q6ZTM4;

Protein name

Cytochrome P450 4V2

Comment

FUNCTION:Unknown. May have a role in fatty acid and steroid metabolism.||COFACTOR:Heme group (By similarity).||SUBCELLULAR LOCATION:Endoplasmic reticulum membrane; Single-pass membrane protein (Potential).||ALTERNATIVE PRODUCTS:Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6ZWL3-1; Sequence=Displayed; Name=2; IsoId=Q6ZWL3-2; Sequence=VSP 014918; Note=No experimental confirmation available;||TISSUE SPECIFICITY:Broadly expressed. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, retina, retinal pigment epithelium (RPE) and lymphocytes.||DISEASE:Defects in CYP4V2 are a cause of Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]. BCD is an autosomal recessive retinal dystrophy characterized by 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 visua

Subcellular localization

Endoplasmic reticulum membrane;Single-pass membrane protein(Potential).

Gene name

cytochrome P450, family 4, subfamily V, polypeptide 2

Protein sequence

MAGLWLGLVWQKLLLWGAASALSLAGASLVLSLLQRVASY ARKWQQMRPIPTVARAYPLVGHALLMKPDGREFFQQIIE YTEEYRHMPLLKLWVGPVPMVALYNAENVEVILTSSKQI DKSSMYKFLEPWLGLGLLTSTGNKWRSRRKMLTPTFHFT ILEDFLDIMNEQANILVKKLEKHINQEAFNCFFYITLCA LDIICETAMGKNIGAQSNDDSEYVRAVYRMSEMIFRRIK MPWLWLDLWYLMFKEGWEHKKSLQILHTFTNSVIAERAN EMNANEDCRGDGRGSAPSKNKRRAFLDLLLSVTDDEGNR LSHEDIREEVDTFMFEGHDTTAAAINWSLYLLGSNPEVQ KKVDHELDDVFGKSDRPATVEDLKKLRYLECVIKETLRL FPSVPLFARSVSEDCEVAGYRVLKGTEAVIIPYALHRDP RYFPNPEEFQPERFFPENAQGRHPYAYVPFSAGPRNCIG QKFAVMEEKTILSCILRHFWIESNQKREELGLEGQLILR PSNGIWIKLKRRNADER

Database cross reference

RefSeq Protein accession:NP_997235
RefSeq Protein gi:187960086

Liver relevance

HLPP validation

Yes/No

Yes

Project name

Chinese Liver;Human Liver Organelles;

Ontology annotation

GO-C

GO:0005789;C:endoplasmic reticulum membrane;IEA:UniProtKB-SubCell. GO:0016021;C:integral to membrane;IEA:UniProtKB-KW.

GO-F

GO:0009055;F:electron carrier activity;IEA:InterPro. GO:0020037;F:heme binding;IEA:InterPro. GO:0004497;F:monooxygenase activity;IEA:UniProtKB-KW.

GO-P

GO:0055114;P:oxidation-reduction process;IEA:UniProtKB-KW. GO:0050896;P:response to stimulus;IEA:UniProtKB-KW. GO:0007601;P:visual perception;IEA:UniProtKB-KW.