CO3_HUMAN
Source:
hRBCD
; ID:
IPI00164623
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:
C3
, CPAMD1
Protein names and data:
CO3_HUMAN
, Complement C3
, C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1; Complement C3 beta chain; Complement C3 alpha chain; C3a anaphylatoxin; Acylation stimulating protein; ASP; C3adesArg; Complement C3b alpha' chain; Complement C3c alpha' chain fragment 1; Complement C3dg fragment; Complement C3g fragment; Complement C3d fragment; Complement C3f fragment; Complement C3c alpha' chain fragment 2; Flags: Precursor
Lenght: 1663 a.a.
Mass: 187148 Da
fasta formatted sequence
Function:
C3 plays a central role in the activation of the complement system. Its processing by C3 convertase is the central reaction in both classical and alternative complement pathways. After activation C3b can bind covalently, via its reactive thioester, to cell surface carbohydrates or immune aggregates. Derived from proteolytic degradation of complement C3, C3a anaphylatoxin is a mediator of local inflammatory process. It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes. Acylation stimulating protein (ASP): adipogenic hormone that stimulates triglyceride (TG) synthesis and glucose transport in adipocytes, regulating fat storage and playing a role in postprandial TG clearance. Appears to stimulate TG synthesis via activation of the PLC, MAPK and AKT signaling pathways. Ligand for C5AR2. Promotes the phosphorylation, ARRB2-mediated internalization and recycling of C5AR2.
Disease:
( OMIM:
120700
611378
612925
613779
)
Complement component 3 deficiency (C3D) [MIM:613779]: A rare defect of the complement classical pathway. Patients develop recurrent, severe, pyogenic infections because of ineffective opsonization of pathogens. Some patients may also develop autoimmune disorders, such as arthralgia and vasculitic rashes, lupus-like syndrome and membranoproliferative glomerulonephritis. Note=The disease is caused by mutations affecting the gene represented in this entry. Macular degeneration, age-related, 9 (ARMD9) [MIM:611378]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]: An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype. Note=Increased levels of C3 and its cleavage product ASP, are associated with obesity, diabetes and coronary heart disease. Short-term endurance training reduces baseline ASP levels and subsequently fat storage.
Cellular location:
Secreted.
Tissue specificity:
Plasma. The acylation stimulating protein (ASP) is expressed in adipocytes and released into the plasma during both the fasting and postprandial periods.
Genetic variants
There are two alleles: C3S (C3 slow), the most common allele in all races and C3F (C3 fast), relatively frequent in Caucasians, less common in Black Americans, extremely rare in Orientals.
102 - 102
R -> G (in allele C3F; associated with ARMD9; dbSNP:rs2230199). VAR_001983
2230199
314 - 314
P -> L (in dbSNP:rs1047286). VAR_001984
1047286
469 - 469
E -> D (in dbSNP:rs11569422). VAR_020262
11569422
549 - 549
D -> N (in C3D; impairs secretion; variant confirmed at protein level). VAR_001985
592 - 592
R -> Q (in AHUS5; leads to impaired binding to the regulator CD46/MCP and resistance to cleavage by factor I). VAR_063213
592 - 592
R -> W (in AHUS5; leads to impaired binding to the regulator CD46/MCP and resistance to cleavage by factor I). VAR_063214
603 - 603
F -> V (in AHUS5). VAR_063654
735 - 735
R -> W (in AHUS5; dbSNP:rs117793540). VAR_063215
117793540
863 - 863
R -> K (in dbSNP:rs11569472). VAR_019206
11569472
1042 - 1042
R -> L (in AHUS5). VAR_063655
1094 - 1094
A -> V (in AHUS5; leads to impaired binding to the regulator CD46/MCP and resistance to cleavage by factor I). VAR_063216
1115 - 1115
D -> N (in AHUS5; leads to impaired binding to the regulator CD46/MCP and resistance to cleavage by factor I). VAR_063217
1158 - 1158
C -> W (in AHUS5). VAR_063218
1161 - 1161
Q -> K (in AHUS5; leads to impaired binding to the regulator CD46/MCP and resistance to cleavage by factor I). VAR_063219
1216 - 1216
D -> N (in C3S). VAR_022761
1224 - 1224
G -> D (in dbSNP:rs11569534). VAR_019207
11569534
1320 - 1320
R -> Q (in C3D; allotype C3'F02'; may inhibit IC3B synthesis). VAR_001986
1367 - 1367
I -> T (in dbSNP:rs11569541). VAR_019208
11569541
1464 - 1464
H -> D (in AHUS5). VAR_063220
1521 - 1521
Q -> R (in dbSNP:rs7256789). VAR_029792
7256789
1601 - 1601
H -> N (in dbSNP:rs1803225). VAR_029793
1803225
1619 - 1619
S -> R (in dbSNP:rs2230210). VAR_029326
2230210
Database cross-references
UniProt:
P01024
Ensembl:
ENST00000245907
MIM:
120700
MIM:
611378
MIM:
612925
MIM:
613779
neXtProt:
NX_P01024
Antibodypedia:
P01024
(may not find the protein thus also not any antibody)
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