SODC_HUMAN
Source:
hRBCD
; ID:
IPI00218733
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:
SOD1
Protein names and data:
SODC_HUMAN
, Superoxide dismutase [Cu-Zn]; 1.15.1.1
, Superoxide dismutase 1; hSod1
Lenght: 154 a.a.
Mass: 15936 Da
fasta formatted sequence
Function:
Destroys radicals which are normally produced within the cells and which are toxic to biological systems.
Catalytic activity:
2 superoxide + 2 H(+) = O(2) + H(2)O(2).
Disease:
( OMIM:
105400
147450
)
Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm. Nucleus. Note=Predominantly cytoplasmic; the pathogenic variants ALS1 Arg-86 and Ala-94 gradually aggregates and accumulates in mitochondria.
Genetic variants
5 - 5
A -> S (in ALS1). VAR_013518
5 - 5
A -> T (in ALS1). VAR_007130
5 - 5
A -> V (in ALS1; severe form; reduces structural stability and enzyme activity; increases tendency to form fibrillar aggregates). VAR_007131
7 - 7
C -> F (in ALS1). VAR_008717
8 - 8
V -> E (in ALS1). VAR_007132
9 - 9
L -> Q (in ALS1). VAR_013519
9 - 9
L -> V (in ALS1). VAR_013520
13 - 13
G -> R (in ALS1). VAR_013521
15 - 15
V -> G (in ALS1). VAR_013522
15 - 15
V -> M (in ALS1). VAR_007133
17 - 17
G -> S (in ALS1; sporadic young onset). VAR_007134
21 - 21
F -> C (in ALS1). VAR_045876
22 - 22
E -> G (in ALS1). VAR_013523
22 - 22
E -> K (in ALS1). VAR_007135
23 - 23
Q -> L (in ALS1). VAR_045877
38 - 38
G -> R (in ALS1; mild form; ubiquitinated by RNF19A. Ubiquitinated by MARCH5; leading to the degradation of mitochondrial SOD1). VAR_007136
39 - 39
L -> R (in ALS1). VAR_013524
39 - 39
L -> V (in ALS1). VAR_007137
42 - 42
G -> D (in ALS1). VAR_007139
42 - 42
G -> S (in ALS1). VAR_007138
44 - 44
H -> R (in ALS1; reduces structural stability and enzyme activity; increases tendency to form fibrillar aggregates). VAR_007140
46 - 46
F -> C (in ALS1; slow progression). VAR_013525
47 - 47
H -> R (in ALS1; "benign" form; 80% of wild-type activity; ubiquitinated by RNF19A). VAR_007141
49 - 49
H -> Q (in ALS1). VAR_007142
49 - 49
H -> R (in ALS1). VAR_045878
50 - 50
E -> K (in ALS1). VAR_013526
55 - 55
T -> R (in ALS1; reduces tendency to form fibrillar aggregates). VAR_045879
66 - 66
N -> S (in ALS1). VAR_013527
68 - 68
L -> P (in ALS1). VAR_065560
68 - 68
L -> R (in ALS1). VAR_013528
73 - 73
G -> S (in ALS1). VAR_008718
77 - 77
D -> Y (in ALS1). VAR_013529
81 - 81
H -> A (in ALS1; sporadic form; interferes with zinc binding; requires 2 nucleotide substitutions). VAR_016874
85 - 85
L -> F (in ALS1). VAR_013530
85 - 85
L -> V (in ALS1). VAR_007143
86 - 86
G -> R (in ALS1; ubiquitinated by RNF19A; interferes with zinc-binding. Ubiquitinated by MARCH5; leading to the degradation of mitochondrial SOD1). VAR_007144
87 - 87
N -> S (in ALS1; dbSNP:rs11556620). VAR_013531
11556620
88 - 88
V -> A (in ALS1). VAR_045880
90 - 90
A -> T (in ALS1). VAR_045881
90 - 90
A -> V (in ALS1). VAR_013532
91 - 91
D -> A (in ALS1; does not seem to be linked with a decrease in activity; dbSNP:rs80265967). VAR_007145
80265967
91 - 91
D -> V (in ALS1). VAR_013533
94 - 94
G -> A (in ALS1; increases tendency to form fibrillar aggregates; ubiquitinated by RNF19A). VAR_007146
94 - 94
G -> C (in ALS1). VAR_007147
94 - 94
G -> D (in ALS1). VAR_007148
94 - 94
G -> R (in ALS1; 30% of wild-type activity). VAR_007149
94 - 94
G -> V (in ALS1). VAR_008719
96 - 96
A -> G (in ALS1). VAR_065194
98 - 98
V -> M (in ALS1; increases tendency to form fibrillar aggregates). VAR_045882
101 - 101
E -> G (in ALS1). VAR_007150
101 - 101
E -> K (in ALS1). VAR_013534
102 - 102
D -> G (in ALS1). VAR_007151
102 - 102
D -> N (in ALS1). VAR_007152
105 - 105
I -> F (in ALS1). VAR_008720
106 - 106
S -> L (in ALS1). VAR_013535
107 - 107
L -> V (in ALS1). VAR_007153
109 - 109
G -> V (in ALS1). VAR_013536
113 - 113
I -> M (in ALS1). VAR_013537
113 - 113
I -> T (in ALS1). VAR_007154
114 - 114
I -> T (in ALS1; destabilizes dimeric protein structure and increases tendency to form fibrillar aggregates). VAR_007155
115 - 115
G -> A (in ALS1). VAR_013538
116 - 116
R -> G (in ALS1). VAR_007156
119 - 119
V -> L (in ALS1). VAR_045883
119 - 119
V -> VFLQ (in ALS1). VAR_008721
125 - 125
D -> G (in ALS1). VAR_045884
125 - 125
D -> V (in ALS1). VAR_008722
126 - 126
D -> H (in ALS1). VAR_007157
127 - 127
L -> S (in ALS1). VAR_013539
134 - 134
Missing (in ALS). VAR_008723
135 - 135
S -> N (in ALS1; reduced metal binding; increases tendency to form fibrillar aggregates). VAR_007158
140 - 140
N -> K (in ALS1). VAR_007159
145 - 145
L -> F (in ALS1). VAR_007160
145 - 145
L -> S (in ALS1). VAR_008724
146 - 146
A -> T (in ALS1). VAR_008725
147 - 147
C -> R (in ALS1). VAR_013540
148 - 148
G -> R (in ALS1). VAR_045885
149 - 149
V -> G (in ALS1). VAR_007161
149 - 149
V -> I (in ALS1). VAR_007162
150 - 150
I -> T (in ALS1). VAR_007163
152 - 152
I -> T (in ALS1; seems to affect formation of homodimer). VAR_007164
Database cross-references
UniProt:
P00441
Ensembl:
ENST00000270142
MIM:
105400
MIM:
147450
neXtProt:
NX_P00441
Antibodypedia:
P00441
(may not find the protein thus also not any antibody)
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