CYB5R3
entrez
1727
canonical
uniprot
P00387
canonical
ensembl
ENSG00000100243
resolver
ensp
ENSP00000338461
resolver
ensp
ENSP00000384834
resolver
ensp
ENSP00000385679
resolver
ensp
ENSP00000508492
resolver
ensp
ENSP00000509015
resolver
genesymbol
CYB5R3
resolver
genesymbol_syn
DIA1
resolver
hgnc
HGNC:2873
resolver
uniprot
B1AHF2
resolver
uniprot
B7Z7L3
resolver
uniprot
O75675
resolver
uniprot
Q8TDL8
resolver
uniprot
Q8WTS8
resolver
uniprot
Q9UEN4
resolver
uniprot
Q9UEN5
resolver
uniprot
Q9UL55
resolver
uniprot
Q9UL56
resolver
uniprot_entry
NB5R3_HUMAN
resolver
uniprot_sec
B1AHF2
resolver
uniprot_sec
B7Z7L3
resolver
uniprot_sec
O75675
resolver
uniprot_sec
Q8TDL8
resolver
uniprot_sec
Q8WTS8
resolver
uniprot_sec
Q9UEN4
resolver
uniprot_sec
Q9UEN5
resolver
uniprot_sec
Q9UL55
resolver
uniprot_sec
Q9UL56
resolver
amino_acid_sequence
MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:10807796, ECO:0000269|PubMed:12393396, ECO:0000269|PubMed:1400360, ECO:0000269|PubMed:15622768, ECO:0000269|PubMed:15953014, ECO:0000269|PubMed:1707593, ECO:0000269|PubMed:1898726, ECO:0000269|PubMed:7718898, ECO:0000269|PubMed:8119939, ECO:0000269|PubMed:9695975, ECO:0000269|PubMed:9886302}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.6.2.2
uniprot
proteins
function
FUNCTION: Catalyzes the reduction of two molecules of cytochrome b5 using NADH as the electron donor. {ECO:0000269|PubMed:10807796, ECO:0000269|PubMed:1400360, ECO:0000269|PubMed:15953014, ECO:0000269|PubMed:1898726, ECO:0000269|PubMed:2019583, ECO:0000269|PubMed:8119939, ECO:0000269|PubMed:9639531}.
uniprot
proteins
mass_dalton
34235
uniprot
proteins
mutagenesis
MUTAGEN 128; /note="S->A: Decreased NADH-cytochrome b5 reductase activity, highly increases Km for NADH and decreases Kcat."; /evidence="ECO:0000269|PubMed:1898726"; MUTAGEN 204; /note="C->S: No effect on NADH-cytochrome b5 reductase activity."; /evidence="ECO:0000269|PubMed:2019583"; MUTAGEN 274; /note="C->A: Loss of 30% of NADH-cytochrome b5 reductase activity."; /evidence="ECO:0000269|PubMed:2019583"; MUTAGEN 274; /note="C->A: Loss of 80% of NADH-cytochrome b5 reductase activity."; /evidence="ECO:0000269|PubMed:2019583"; MUTAGEN 274; /note="C->S: No effect on NADH-cytochrome b5 reductase activity."; /evidence="ECO:0000269|PubMed:2019583"; MUTAGEN 284; /note="C->S: No effect on NADH-cytochrome b5 reductase activity."; /evidence="ECO:0000269|PubMed:2019583"; MUTAGEN 298; /note="C->S: No effect on NADH-cytochrome b5 reductase activity."; /evidence="ECO:0000269|PubMed:2019583"; MUTAGEN 299..301; /note="FVF->LVL: No effect on protein stability and NADH-cytochrome b5 reductase activity."; /evidence="ECO:0000269|PubMed:8119939"; MUTAGEN 299; /note="F->A: Decreases protein stability and slightly decreases NADH-cytochrome b5 reductase activity."; /evidence="ECO:0000269|PubMed:8119939"; MUTAGEN 299; /note="F->L: No effect on protein stability and NADH-cytochrome b5 reductase activity."; /evidence="ECO:0000269|PubMed:8119939"; MUTAGEN 301; /note="F->A: Decreases protein stability and slightly decreases NADH-cytochrome b5 reductase activity."; /evidence="ECO:0000269|PubMed:8119939"; MUTAGEN 301; /note="F->L: No effect on protein stability and NADH-cytochrome b5 reductase activity."; /evidence="ECO:0000269|PubMed:8119939
uniprot
proteins
protein_family
Flavoprotein pyridine nucleotide cytochrome reductase family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
10807796
uniprot
proteins
pubmed
12393396
uniprot
proteins
pubmed
1400360
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15502298
uniprot
proteins
pubmed
15622768
uniprot
proteins
pubmed
15953014
uniprot
proteins
pubmed
1707593
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
1898726
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
2019583
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2479590
uniprot
proteins
pubmed
2498303
uniprot
proteins
pubmed
25255805
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
3035541
uniprot
proteins
pubmed
3700359
uniprot
proteins
pubmed
6389526
uniprot
proteins
pubmed
7718898
uniprot
proteins
pubmed
8119939
uniprot
proteins
pubmed
9048929
uniprot
proteins
pubmed
9639531
uniprot
proteins
pubmed
9695975
uniprot
proteins
pubmed
9886302
uniprot
proteins
sequence_length
301
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Endoplasmic reticulum membrane {ECO:0000269|PubMed:9639531}; Lipid-anchor {ECO:0000250|UniProtKB:P20070}; Cytoplasmic side {ECO:0000250|UniProtKB:P20070}. Mitochondrion outer membrane {ECO:0000305|PubMed:9639531}; Lipid-anchor {ECO:0000250|UniProtKB:P20070}; Cytoplasmic side {ECO:0000250|UniProtKB:P20070}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:9639531}.
uniprot
proteins