Nomenclature
Short Name:
COL4A3BP
Full Name:
Collagen type IV alpha-3-binding protein
Alias:
- Alpha 3 type IV collagen binding protein
- C43BP
- Goodpasture antigen-binding protein
- GPBP
- Lipid-transfer protein CERTL
- STARD11; StAR-related lipid transfer (START) domain containing 11; START domain containing 11
- Ceramide transporter
- CERT
- CERTL
- Collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
Classification
Type:
Protein-serine/threonine kinase
Group:
Atypical
Family:
SubFamily:
NA
Specific Links
Structure
Mol. Mass (Da):
70835
# Amino Acids:
624
# mRNA Isoforms:
3
mRNA Isoforms:
83,708 Da (752 AA; Q9Y5P4-3); 70,835 Da (624 AA; Q9Y5P4); 68,007 Da (598 AA; Q9Y5P4-2)
4D Structure:
1D Structure:
3D Image (rendered using PV Viewer):
PDB ID
Subfamily Alignment
Domain Distribution:
| Start | End | Domain |
|---|
Post-translation Modifications
For detailed information on phosphorylation of this kinase go to PhosphoNET
Acetylated:
K242.
Serine phosphorylated:
S12, S57, S119, S123, S125, S126, S132-, S135, S150, S156, S315, S373, S377, S380.
Threonine phosphorylated:
T117, T610.
Tyrosine phosphorylated:
Y121, Y143, Y372, Y579.
Ubiquitinated:
K344.
Distribution
Based on gene microarray analysis from the NCBI
Human Tissue Distribution
% Max Expression:
Mean Expression:
Number of Samples:
Standard Deviation:
% Max Expression:
Mean Expression:
Number of Samples:
Standard Deviation:
64
1472
31
783
7
159
11
43
4
97
18
68
15
335
137
344
43
996
44
702
5
118
64
61
5
105
45
34
32
739
43
1664
36
820
10
745
10
234
122
159
5
113
29
86
39
909
98
721
5
122
29
89
8
174
6
127
4
82
26
63
7
165
22
77
6
146
127
93
3
71
23
59
8
196
108
136
45
1041
140
724
5
112
25
98
7
160
27
107
5
112
19
84
9
200
23
143
6
146
25
131
34
777
99
732
6
127
32
77
4
87
23
60
4
89
23
59
5
119
56
118
39
910
18
597
26
604
36
1208
9
200
92
249
58
1327
104
819
100
2306
70
2275
Evolution
Species Conservation
PhosphoNET % Identity:
PhosphoNET % Similarity:
Homologene %
Identity:
PhosphoNET % Identity:
PhosphoNET % Similarity:
Homologene %
Identity:
100
100
100
0
0
100
-
-
86
-
-
98
-
-
-
98.4
99.3
97
-
-
-
96.6
98
97
96.3
97.5
96
-
-
-
-
-
-
93.3
96.1
96
87.1
91.5
88
75.9
86
85
-
-
-
43.7
63.7
42
46.3
65
-
-
-
28
49.8
69.2
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
For a wider analysis go to PhosphoNET Evolution in PhosphoNET
Regulation
Activation:
NA
Inhibition:
NA
Synthesis:
NA
Degradation:
NA
Known Upstream Kinases
For further details on these substrates click on the Substrate Short Name or UniProt ID. Phosphosite Location is hyperlinked to PhosphoNET
predictions.
Based on in vitro and/or in vivo phosphorylation data
| Kinase Short Name | UniProt ID (Human) | Phosphosite Location | Phosphosite Sequence | Effect of Phosphorylation |
|---|
Disease Linkage
General Disease Association:
Immune disorders
Specific Diseases (Non-cancerous):
Goodpasture syndrome; autosomal recessive alport syndrome
Comments:
COL4A3BP is also known as Goodpasture antigen-binding protein (GPBP) and was identified on the basis of its ability to phosphorylate the N-terminus of the Goodpasture antigen, which has been proposed as a potential causal factor in the pathogenesis of the disease due to its association with the Goodpasture syndrome phenotype. Therefore, alterations in the phosphorylation of the Goodpasture antigen by COL4A3BP may alter the ability of the immune system to recognize and stimulate an autoimmune response, implicating the COL4A3BP protein in the pathogenesis of Goodpasture syndrome. Goodpasture syndrome is an idiopathic autoimmune disease that specifically affects the lungs and kidneys. Common symptoms of the disease include pulmonary alveolar hemorrhage, glomerulonephritis, and the presence of anti-glomerular basement membrane (anti-GBM) antibodies in the blood. In Goodpasture syndrome, auto-antibodies are produced against the C-terminus of the alpha3 chain of collagen IV (referred to as the Goodpasture antigen), resulting in the common symptom of glomerulonephritis and pulmonary hemorrhage due to collagen IV destruction in blood vessels of the lungs and kidneys. Autosomal recessive Alport syndrome is a genetic disease characterized by kidney disease, loss of hearing, and eye abnormalities. The autosomal recessive form of the disease accounts for ~15% of all cases of Alport syndrome.
Gene Expression in Cancers:
TranscriptoNET (www.transcriptonet.ca) analysis with mRNA expression data retrieved from the National Center for Biotechnology Information's Gene Expression Omnibus (GEO) database, which was normalized against 60 abundantly and commonly found proteins, indicated altered expression for this protein kinase as shown here as the percent change from normal tissue controls (%CFC) as supported with the Student T-test in the following types of human cancers: Brain glioblastomas (%CFC= +222, p<0.093); Clear cell renal cell carcinomas (cRCC) (%CFC= +45, p<0.01); Clear cell renal cell carcinomas (cRCC) stage I (%CFC= +81, p<0.003); Prostate cancer - metastatic (%CFC= -50, p<0.0001); and Skin melanomas - malignant (%CFC= +187, p<0.0001).
Mutagenesis Experiments:
Insertional mutagenesis studies in mice have not yet revealed a role for this protein kinase in mouse cancer oncogenesis.
Mutation Rate in All Cancers:
Percent mutation rates per 100 amino acids length in human cancers: 0.05 % in 24433 diverse cancer specimens. This rate is only -28 % lower than the average rate of 0.075 % calculated for human protein kinases in general.
Mutation Rate in Specific Cancers:
Highest percent mutation rates per 100 amino acids length in human cancers: 0.28 % in 1270 large intestine cancers tested; 0.2 % in 942 upper aerodigestive tract cancers tested; 0.19 % in 864 skin cancers tested; 0.18 % in 273 cervix cancers tested.
Frequency of Mutated Sites:
Most frequent mutations with the number of reports indicated in brackets: T89P (11); T80A (8); .
Comments:
Only 2 deletions, 1 insertion, and no complex mutations are noted on the COSMIC website.