NB5R3_HUMAN
Source:
hRBCD
; ID:
IPI00328415
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Integral membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
CYB5R3
, DIA1
Protein names and data:
NB5R3_HUMAN
, NADH-cytochrome b5 reductase 3; B5R; Cytochrome b5 reductase; 1.6.2.2
, Diaphorase-1; NADH-cytochrome b5 reductase 3 membrane-bound form; NADH-cytochrome b5 reductase 3 soluble form
Lenght: 301 a.a.
Mass: 34235 Da
fasta formatted sequence
Function:
Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.
Catalytic activity:
NADH + 2 ferricytochrome b5 = NAD(+) + H(+) + 2 ferrocytochrome b5.
Disease:
( OMIM:
250800
613213
)
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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
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.
Tissue specificity:
Isoform 2 is expressed at late stages of erythroid maturation.
Genetic variants
Ser-117 seems to only be found in persons of African origin. The allele frequency is 0.23 in African Americans. It was not found in Caucasians, Asians, Indo-Aryans, or Arabs. There seems to be no effect on the enzyme activity.
58 - 58
R -> Q (in METHB-CYB5R3; type 1; 62% of activity). VAR_004619
66 - 66
S -> P (in dbSNP:rs1130706). VAR_018419
1130706
73 - 73
L -> P (in METHB-CYB5R3; type 1). VAR_010750
106 - 106
V -> M (in METHB-CYB5R3; type 1; 77% of activity; dbSNP:rs121965009). VAR_004620
121965009
117 - 117
T -> S (in dbSNP:rs1800457). VAR_010751
1800457
128 - 128
S -> P (in METHB-CYB5R3; type 2; Hiroshima). VAR_004621
149 - 149
L -> P (in METHB-CYB5R3). VAR_004622
179 - 179
A -> V (in METHB-CYB5R3; type 1; dbSNP:rs201232518). VAR_010752
201232518
204 - 204
C -> R (in METHB-CYB5R3; type 2). VAR_010753
204 - 204
C -> Y (in METHB-CYB5R3; type 1). VAR_010754
256 - 256
Missing (in METHB-CYB5R3; type 1; retains approximately 38% of residual diaphorase activity). VAR_037315
273 - 273
Missing (in METHB-CYB5R3; type 2). VAR_010755
292 - 292
G -> D (in METHB-CYB5R3; type 1; retains approximately 58% of residual diaphorase activity). VAR_037316
299 - 299
Missing (in METHB-CYB5R3; type2; almost complete loss of activity). VAR_004623
Database cross-references
UniProt:
P00387
Ensembl:
ENST00000352397
Ensembl:
ENST00000361740
Ensembl:
ENST00000396303
Ensembl:
ENST00000402438
Ensembl:
ENST00000407332
Ensembl:
ENST00000407623
MIM:
250800
MIM:
613213
neXtProt:
NX_P00387
Antibodypedia:
P00387
(may not find the protein thus also not any antibody)
Local full text data:
click here
Users' comments
Login to add a comment.