RBCC Red Blood Cell Collection

BIEA_HUMAN

Source: hRBCD ; ID: IPI00294158
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: BLVRA , BLVR, BVR
Protein names and data: BIEA_HUMAN , Biliverdin reductase A; BVR A; 1.3.1.24 , Biliverdin-IX alpha-reductase; Flags: Precursor Lenght: 296 a.a.
Mass: 33428 Da
fasta formatted sequence
Function: Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IX alpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor.
Catalytic activity: Bilirubin + NAD(P)(+) = biliverdin + NAD(P)H.
Pathway: Porphyrin-containing compound metabolism; protoheme degradation.
Disease: ( OMIM: 109750 614156 ) Hyperbiliverdinemia (HBLVD) [MIM:614156]: A condition characterized by a green discoloration of the skin, urine, serum, and other bodily fluids. It is due to increased biliverdin resulting from inefficient conversion to bilirubin. Affected individuals appear to have symptoms only in the context of obstructive cholestasis and/or liver failure. In some cases, green jaundice can resolve after resolution of obstructive cholestasis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm.
Tissue specificity: Liver.

Genetic variants

3 - 3 A -> T (in dbSNP:rs699512). VAR_019230 699512
37 - 37 L -> V (in dbSNP:rs17245918). VAR_019231 17245918
56 - 56 Q -> R (in dbSNP:rs1050916). VAR_014851 1050916

Database cross-references

UniProt: P53004
Ensembl: ENST00000265523
Ensembl: ENST00000402924
MIM: 109750
MIM: 614156
neXtProt: NX_P53004
Antibodypedia: P53004 (may not find the protein thus also not any antibody)
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