Q2TAP0
Gene name |
GOLGA7B (C10orf132, C10orf133) |
Protein name |
Golgin subfamily A member 7B |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:401647 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q2TAP0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q2TAP0-F1 | Predicted | AlphaFoldDB |
126 variants for Q2TAP0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1384166085 CA377991262 |
8 | L>P | No |
ClinGen gnomAD |
|
|
rs746126130 CA5635795 |
10 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs531579996 CA5635794 |
10 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772148450 CA5635797 |
12 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772148450 CA5635796 |
12 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212714190 rs370419153 |
12 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5635799 rs768638204 |
13 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761671560 CA5635801 COSM261119 |
13 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs769589632 CA5635802 |
15 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5635803 rs374417789 |
15 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5635804 rs143455176 |
16 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1467247466 CA377991308 |
17 | L>P | No |
ClinGen gnomAD |
|
|
CA212714257 rs567531286 |
17 | L>V | No |
ClinGen Ensembl |
|
|
rs765913755 CA5635805 |
18 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5635806 rs751126796 |
21 | V>F | No |
ClinGen ExAC |
|
|
CA5635807 rs758951956 |
26 | D>G | No |
ClinGen ExAC |
|
|
CA377991364 rs199703901 |
26 | D>H | No |
ClinGen TOPMed |
|
|
rs199703901 CA212714283 |
26 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5635809 rs200719626 |
29 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1473072534 CA377991450 |
36 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 36 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377991468 rs1564865623 |
37 | T>N | No |
ClinGen Ensembl |
|
|
CA5635811 rs779454360 |
39 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs757794979 CA5635810 |
39 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212714328 rs1053715920 |
41 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 41 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757847652 CA5635813 |
41 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327248459 CA377991523 |
42 | E>G | No |
ClinGen gnomAD |
|
|
rs1393453223 CA377991516 |
42 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 42 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768728042 CA5635817 |
46 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5635816 rs768728042 |
46 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747181097 CA5635815 |
46 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372050656 CA5635833 |
49 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368130428 CA5635832 |
49 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377992270 rs1590163558 |
50 | Q>R | No |
ClinGen Ensembl |
|
|
CA5635834 rs781280819 |
51 | L>V | No |
ClinGen ExAC |
|
| TCGA novel | 54 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377992327 rs1230956728 |
54 | E>Q | No |
ClinGen TOPMed |
|
|
rs1314113158 CA377992353 |
56 | V>M | No |
ClinGen TOPMed |
|
|
rs748194897 CA5635835 |
58 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA212716986 rs1038989582 |
61 | G>E | No |
ClinGen TOPMed |
|
|
rs1466835263 CA377993203 |
61 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 63 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377092921 CA5635841 |
64 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771822768 CA377993291 |
66 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs771822768 CA5635842 |
66 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs760249871 CA5635844 |
69 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377993377 rs1258830973 |
71 | G>D | No |
ClinGen TOPMed |
|
|
CA212717009 rs1030482268 |
71 | G>S | No |
ClinGen TOPMed |
|
|
rs765840144 CA5635845 |
72 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA377993420 rs1183018218 |
74 | Y>C | No |
ClinGen TOPMed |
|
|
rs932282510 CA212717014 |
74 | Y>H | No |
ClinGen Ensembl |
|
|
rs1183018218 CA377993419 |
74 | Y>S | No |
ClinGen TOPMed |
|
|
rs773598891 CA5635847 |
75 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs773598891 CA5635846 |
75 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA5635848 rs766675204 |
76 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377993461 rs1325465104 |
77 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA377993458 rs1325465104 |
77 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755233805 COSM1253388 CA5635850 |
82 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1007342675 COSM173875 CA212717048 |
83 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1267548316 CA377993622 |
86 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 87 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 92 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323355778 CA377993741 |
93 | T>N | No |
ClinGen TOPMed |
|
|
CA5635855 rs777839323 |
93 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs759344235 CA212717094 |
94 | H>D | No |
ClinGen Ensembl |
|
|
CA5635856 rs749193011 |
96 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757195101 CA5635874 |
100 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5635875 rs778985189 |
104 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5635876 rs750311602 COSM258706 |
104 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs941612201 CA212717260 |
107 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA377994047 rs1177081301 |
108 | E>G | No |
ClinGen gnomAD |
|
|
rs779939304 CA5635878 |
108 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1453615679 CA377994093 |
111 | E>D | No |
ClinGen TOPMed |
|
|
CA377994120 rs1303405931 |
114 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746683484 CA5635881 |
115 | A>V | No |
ClinGen ExAC |
|
|
CA377994140 rs1417305151 |
116 | P>T | No |
ClinGen gnomAD |
|
|
CA5635883 rs780606484 |
117 | R>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 117 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA212717298 rs141259574 |
117 | R>Q | No |
ClinGen ESP |
|
|
CA377994160 rs1172889732 |
118 | G>A | No |
ClinGen gnomAD |
|
|
rs1347058184 CA377994166 |
119 | L>F | No |
ClinGen gnomAD |
|
|
rs1352530107 CA377994196 |
122 | T>K | No |
ClinGen gnomAD |
|
|
CA5635884 rs200808621 |
123 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 123 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377994220 rs1428701656 |
125 | V>M | No |
ClinGen TOPMed |
|
|
CA377994231 rs1303319248 |
126 | E>A | No |
ClinGen gnomAD |
|
|
CA212717321 rs750443345 |
127 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs375682387 CA5635886 |
127 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5635919 rs752404058 |
132 | I>T | No |
ClinGen ExAC TOPMed |
|
|
CA5635920 rs755711919 |
134 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755711919 CA377994384 |
134 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748777328 CA5635922 |
136 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377994415 rs375513503 |
137 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377994419 rs1156816203 |
138 | E>G | No |
ClinGen gnomAD |
|
|
rs901352162 CA212718266 |
138 | E>K | No |
ClinGen gnomAD |
|
|
rs1461522376 CA377994430 |
139 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs780609461 CA5635924 |
139 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs747412494 CA377994433 |
140 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212718274 rs1010380728 |
140 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs747412494 CA5635925 |
140 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776814365 CA5635928 |
141 | C>Y | No |
ClinGen ExAC |
|
|
rs1216116056 CA377994450 |
142 | S>T | No |
ClinGen TOPMed |
|
|
rs770107830 CA5635930 |
144 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1280400545 CA5635936 |
149 | G>S | No |
ClinGen TOPMed |
|
|
rs1332938134 CA377994516 |
150 | S>G | No |
ClinGen gnomAD |
|
|
rs773473661 CA5635938 |
151 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA377994543 rs1166496220 |
153 | G>D | No |
ClinGen gnomAD |
|
|
CA5635940 rs766490550 |
153 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA377994556 rs1564868055 |
155 | G>S | No |
ClinGen Ensembl |
|
|
CA212718387 rs530051798 |
157 | S>R | No |
ClinGen 1000Genomes |
|
|
CA5635942 rs759330644 |
159 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327387471 CA377994600 |
160 | G>E | No |
ClinGen gnomAD |
|
|
CA5635943 rs767364497 |
160 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs767364497 CA377994599 |
160 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA212718443 rs958327725 |
163 | G>R | No |
ClinGen gnomAD |
|
|
CA377994635 rs373874556 |
164 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1458392408 CA377994633 |
164 | A>P | No |
ClinGen TOPMed |
|
|
CA5635945 rs373874556 |
164 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753416888 CA5635947 |
165 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1013968355 CA212718471 |
166 | A>T | No |
ClinGen TOPMed |
|
|
rs756768647 CA377994658 |
167 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756768647 CA377994657 |
167 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5635948 rs756768647 |
167 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193888972 CA377994654 |
167 | R>W | No |
ClinGen gnomAD |
No associated diseases with Q2TAP0
1 regional properties for Q2TAP0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Golgin subfamily A member 7/ERF4 | 21 - 133 | IPR019383 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| palmitoyltransferase complex | A protein complex with palmitoyltransferase activity. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| peptidyl-L-cysteine S-palmitoylation | The covalent attachment of a palmitoyl group to a sulfur (S) atom within a cysteine residue to form peptidyl-S-palmitoyl-L-cysteine. |
| protein targeting to membrane | The process of directing proteins towards a membrane, usually using signals contained within the protein. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9D428 | GOLGA7B | Golgin subfamily A member 7B | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATEVHNLQE | LRRSASLATK | VFIQRDYSDG | TICQFQTKFP | PELDSRIERQ | LFEETVKTLN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GFYAEAEKIG | GSSYLEGCLA | CATAYFIFLC | METHYEKVLK | KISRYIQEQN | EKIFAPRGLL |
| 130 | 140 | 150 | 160 | ||
| LTDPVERGMR | VIEISIYEDR | CSSGSSSSGS | SSGSGSSSGG | GGGAGAR |