PDB ID | 1U81 | CHAIN | A |
---|---|---|---|
Protein name | ADP-ribosylation factor 1 | ||
Uniprot Accession | P84077 | ||
The number of similar proteins | 20 | ||
The number of binding states | 7 | ||
The number of binding partners | 6 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1U81 (CHAIN: A) | |
1 | Monomeric state |
2 | P47102 |
3 | P84079 |
4 | Q8ZPY9 |
5 | Q8NI19 |
6 | Q9UJY5 |
7 | 6II6 |
Only interaction residues |
|
||||||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
19_ARG | CYS |
ClinVar chr1:228284870 |
rs2124857065
|
Likely pathogenic | - | Periventricular nodular heterotopia 8 [MONDO:MONDO:0032588,MedGen:C4748602,OMIM:618185] | |
32_THR | ASN |
ClinVar chr12:49334784 |
-
|
Pathogenic | - | Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]; Kyphosis [Human Phenotype Ontology:HP:0002769,Human Phenotype Ontology:HP:0002808,Human Phenotype Ontology:HP:0003314,MedGen:C0022821]; Atrophy/Degeneration affecting the central nervous system [Human Phenotype Ontology:HP:0007367,MedGen:C4024899] | |
33_ILE | VAL |
8.3kJPN chr7:127229166 |
rs767832041
|
- | 0.0001 | - | |
35_TYR | HIS | VAR_081272 |
rs879036238
|
LP/P | - | Periventricular nodular heterotopia 8 (PVNH8) [MIM:618185] | |
35_TYR | HIS |
ClinVar chr1:228284918 |
rs879036238
|
Pathogenic | - | Periventricular nodular heterotopia 8 [MONDO:MONDO:0032588,MedGen:C4748602,OMIM:618185] | |
35_TYR | ASP |
ClinVar chr1:228284918 |
rs879036238
|
Pathogenic | - | Periventricular nodular heterotopia 8 [MONDO:MONDO:0032588,MedGen:C4748602,OMIM:618185] | |
36_LYS | ARG |
8.3kJPN chr7:127229176 |
-
|
- | 0.0001 | - | |
48_THR | ILE |
ClinVar chr1:228284958 |
rs1571844539
|
Likely pathogenic | - | Periventricular nodular heterotopia 8 [MONDO:MONDO:0032588,MedGen:C4748602,OMIM:618185] | |
51_PHE | LEU |
ClinVar chr1:228285047 |
rs2124857427
|
Pathogenic | - | Periventricular nodular heterotopia 8 [MONDO:MONDO:0032588,MedGen:C4748602,OMIM:618185] | |
51_PHE | LEU |
ClinVar chr1:228285045 |
rs2124857424
|
Pathogenic | - | Periventricular nodular heterotopia 8 [MONDO:MONDO:0032588,MedGen:C4748602,OMIM:618185] | |
60_ASN | HIS |
8.3kJPN chr3:57569705 |
-
|
- | 0.0001 | - | |
67_ASP | VAL |
ClinVar chr12:49333839 |
-
|
Pathogenic | - | Microcephaly [Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563]; Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]; Scoliosis [Human Phenotype Ontology:HP:0002650,Human Phenotype Ontology:HP:0002770,Human Phenotype Ontology:HP:0003303,Human Phenotype Ontology:HP:0003317,Human Phenotype Ontology:HP:0003415,MONDO:MONDO:0005392,MedGen:C0036439]; Dystonic disorder [Human Phenotype Ontology:HP:0001332,Human Phenotype Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421]; Atrophy/Degeneration affecting the central nervous system [Human Phenotype Ontology:HP:0007367,MedGen:C4024899] | |
83_GLN | ARG |
8.3kJPN chr7:127229638 |
-
|
- | 0.0001 | - | |
93_ASP | ASN |
ClinVar chr12:49333545 |
-
|
Pathogenic/Likely pathogenic | - | Hypotonia [Human Phenotype Ontology:HP:0001252,MedGen:C0026827]; Microcephaly [Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563]; Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]; Atrophy/Degeneration affecting the central nervous system [Human Phenotype Ontology:HP:0007367,MedGen:C4024899]; Pectus excavatum|12 conditions [Human Phenotype Ontology:HP:0000767,Human Phenotype Ontology:HP:0006613,Human Phenotype Ontology:HP:0006617,MONDO:MONDO:0008213,MedGen:C2051831,OMIM:169300|12 conditions] | |
97_ARG | TRP |
8.3kJPN chr7:127230150 |
rs367999369
|
- | 0.0001 | - | |
99_ARG | HIS | VAR_081273 |
-
|
US | - | Periventricular nodular heterotopia 8 (PVNH8) [MIM:618185] | |
99_ARG | HIS |
ClinVar chr1:228285328 |
rs1558087712
|
Pathogenic/Likely pathogenic | - | Periventricular nodular heterotopia 8|not provided [MONDO:MONDO:0032588,MedGen:C4748602,OMIM:618185|MedGen:C3661900] | |
99_ARG | CYS |
ClinVar chr1:228285327 |
rs2124857939
|
Likely pathogenic | - | Periventricular nodular heterotopia 8 [MONDO:MONDO:0032588,MedGen:C4748602,OMIM:618185] | |
102_GLU | LYS |
8.3kJPN chr3:57563069 |
-
|
- | 0.0001 | - | |
117_ARG | GLN |
8.3kJPN chr12:49333472 |
rs752332270
|
- | 0.0001 | - | |
125_ALA | THR |
8.3kJPN chr1:228285405 |
rs1382592951
|
- | 0.0001 | - | |
127_LYS | GLU | VAR_081274 |
-
|
LP/P | - | Periventricular nodular heterotopia 8 (PVNH8) [MIM:618185] | |
127_LYS | GLU |
ClinVar chr1:228285411 |
rs1558087795
|
Pathogenic | - | Periventricular nodular heterotopia 8 [MONDO:MONDO:0032588,MedGen:C4748602,OMIM:618185] | |
127_LYS | GLU |
ClinVar chr12:49333443 |
-
|
Pathogenic | - | 7 conditions [7 conditions] | |
131_PRO | ARG |
ClinVar chr1:228285560 |
rs2124858360
|
Pathogenic | - | Periventricular nodular heterotopia 8 [MONDO:MONDO:0032588,MedGen:C4748602,OMIM:618185] | |
131_PRO | LEU |
ClinVar chr1:228285560 |
rs2124858360
|
Pathogenic | - | Periventricular nodular heterotopia 8 [MONDO:MONDO:0032588,MedGen:C4748602,OMIM:618185] | |
133_ALA | THR |
8.3kJPN chr7:127231083 |
rs201108741
|
- | 0.0001 | - | |
140_THR | PRO |
8.3kJPN chr3:57561313 |
-
|
- | 0.0001 | - | |
144_GLY | ALA |
8.3kJPN chr7:127231117 |
-
|
- | 0.0001 | - | |
149_ARG | HIS |
8.3kJPN chr3:57561285 |
rs777379437
|
- | 0.0001 | - | |
149_ARG | CYS |
8.3kJPN chr3:57561286 |
rs747265204
|
- | 0.001 | - |