InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CYB5R3

Summary

InnateDB Protein

IDBP-293053.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CYB5R3

Protein Name

cytochrome b5 reductase 3

Synonyms

B5R; DIA1;

Species

Homo sapiens

Ensembl Protein

ENSP00000384834

InnateDB Gene

IDBG-10149 (CYB5R3)

Protein Structure

UniProt Annotation

Function

Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.

Subcellular Localization

Isoform 1: Endoplasmic reticulum membrane; Lipid-anchor; Cytoplasmic side. Mitochondrion outer membrane; Lipid-anchor; Cytoplasmic side.Isoform 2: Cytoplasm. Note=Produces the soluble form found in erythrocytes.

Disease Associations

Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]: A form of methemoglobinemia, a hematologic disease characterized by the presence of excessive amounts of methemoglobin in blood cells, resulting in decreased oxygen carrying capacity of the blood, cyanosis and hypoxia. There are two types of methemoglobinemia CYB5R3-related. In type 1, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type 2, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes and all body tissues. Type 2 methemoglobinemia is associated with mental deficiency and other neurologic symptoms. {ECO:0000269PubMed:10807796, ECO:0000269PubMed:12393396, ECO:0000269PubMed:1400360, ECO:0000269PubMed:15622768, ECO:0000269PubMed:1707593, ECO:0000269PubMed:1898726, ECO:0000269PubMed:7718898, ECO:0000269PubMed:8119939, ECO:0000269PubMed:9695975, ECO:0000269PubMed:9886302}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Isoform 2 is expressed at late stages of erythroid maturation.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004128	cytochrome-b5 reductase activity, acting on NAD(P)H
GO:0016491	oxidoreductase activity
GO:0071949	FAD binding

Biological Process

GO:0006695	cholesterol biosynthetic process
GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0008015	blood circulation
GO:0019852	L-ascorbic acid metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005741	mitochondrial outer membrane
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0005811	lipid particle
GO:0005833	hemoglobin complex
GO:0016020	membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR001433 Oxidoreductase FAD/NAD(P)-binding
IPR001709 Flavoprotein pyridine nucleotide cytochrome reductase
IPR001834 NADH:cytochrome b5 reductase (CBR)
IPR008333 Oxidoreductase, FAD-binding domain
IPR017938 Riboflavin synthase-like beta-barrel

PFAM

PF00175
PF00970

PRINTS

PR00371
PR00406

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P00387