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 Q96PG1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96PG1-F1 | Predicted | AlphaFoldDB |
106 variants for Q96PG1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs138270146 CA6023350 |
4 | M>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6023352 rs138270146 |
4 | M>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6023351 rs138270146 |
4 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756529471 CA6023349 |
5 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA380594434 rs1308788539 |
5 | Q>R | No |
ClinGen gnomAD |
|
|
CA222762282 rs866651946 |
6 | G>E | No |
ClinGen gnomAD |
|
|
CA6023348 rs751095957 |
6 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA380594427 rs866651946 |
6 | G>V | No |
ClinGen gnomAD |
|
|
CA380594398 rs1368671931 |
10 | T>I | No |
ClinGen gnomAD |
|
|
rs765921315 CA6023347 |
11 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6023346 rs762551881 |
12 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA380594383 rs1222157052 |
13 | G>R | No |
ClinGen TOPMed |
|
|
rs773060077 CA380594379 |
14 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs773060077 CA6023345 |
14 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6023343 rs530396591 |
19 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6023342 rs776245882 |
21 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs768656888 CA6023341 |
22 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746860795 CA6023340 |
24 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1565127153 CA380594304 |
26 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 27 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380594295 rs1395389276 |
27 | I>T | No |
ClinGen gnomAD |
|
|
CA222762266 rs559816432 |
27 | I>V | No |
ClinGen 1000Genomes |
|
|
rs775551219 CA6023339 |
28 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1002851868 CA222762253 |
29 | S>A | No |
ClinGen Ensembl |
|
|
CA380594276 rs1199224823 |
30 | Y>* | No |
ClinGen gnomAD |
|
|
rs184351939 CA6023336 |
30 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs184351939 CA6023337 |
30 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA380594265 rs1565127110 |
32 | C>* | No |
ClinGen Ensembl |
|
|
CA6023335 rs757382273 |
32 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA6023334 rs749686890 |
32 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 33 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756650203 CA6023332 |
35 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380594229 rs1476299644 |
37 | E>D | No |
ClinGen TOPMed |
|
|
CA380594189 rs267603050 |
42 | R>S | No |
ClinGen gnomAD |
|
|
rs1393672902 CA380594182 |
43 | K>N | No |
ClinGen gnomAD |
|
|
CA6023329 rs758036118 |
44 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs768127105 CA6023330 |
44 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6023328 rs749925262 |
45 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377478597 CA380594154 |
48 | G>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 48 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 48 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380592965 rs1256776322 |
49 | V>F | No |
ClinGen gnomAD |
|
|
rs1321270393 CA380592948 |
50 | V>G | No |
ClinGen TOPMed |
|
|
CA222758757 rs781506574 |
50 | V>M | No |
ClinGen Ensembl |
|
|
CA380592946 rs757811258 |
51 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760436331 CA6023306 |
51 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6023307 rs757811258 |
51 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231368681 CA380592936 |
52 | I>V | No |
ClinGen gnomAD |
|
|
rs1322662199 CA380592891 |
55 | A>V | No |
ClinGen gnomAD |
|
|
CA222758699 rs1022411772 |
58 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6023304 rs767465758 |
58 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs752085691 CA222758684 |
59 | L>I | No |
ClinGen Ensembl |
|
|
rs1329289118 CA380592811 |
61 | M>I | No |
ClinGen gnomAD |
|
|
rs1419636122 CA380592754 |
65 | M>I | No |
ClinGen gnomAD |
|
|
rs1035256442 CA222758668 |
65 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA380592760 rs1035256442 |
65 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA380592741 rs1350499963 |
66 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA380592751 rs1169225772 |
66 | M>L | No |
ClinGen gnomAD |
|
|
CA380592731 rs1298101260 |
67 | C>Y | No |
ClinGen TOPMed |
|
|
rs777618703 CA222758662 |
68 | V>I | No |
ClinGen Ensembl |
|
|
rs1417010161 CA380592678 |
71 | S>N | No |
ClinGen TOPMed |
|
|
CA380592608 rs1194640979 |
74 | E>G | No |
ClinGen gnomAD |
|
|
CA380592596 rs1470146576 |
75 | E>K | No |
ClinGen gnomAD |
|
|
CA380592575 rs1378647739 |
76 | H>Y | No |
ClinGen TOPMed |
|
|
CA222758647 rs905396267 |
77 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs757858978 CA6023302 |
77 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs763078306 CA6023299 |
80 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199719139 CA6023300 |
80 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA380592504 rs199719139 |
80 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380592476 rs1344578059 |
81 | Y>C | No |
ClinGen gnomAD |
|
|
CA380592463 rs1304524824 |
82 | V>L | No |
ClinGen gnomAD |
|
|
CA6023298 rs540496332 |
83 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1306923686 CA380592414 |
84 | Y>C | No |
ClinGen gnomAD |
|
|
CA222758616 rs930727058 |
87 | W>* | No |
ClinGen Ensembl |
|
|
CA380592351 rs1354545289 |
87 | W>S | No |
ClinGen gnomAD |
|
|
CA380592291 rs1236536963 |
91 | M>I | No |
ClinGen TOPMed |
|
|
rs1214779402 CA380590097 |
92 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1242586753 CA380590103 |
92 | Y>H | No |
ClinGen TOPMed |
|
|
CA6023289 rs777330289 |
93 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1178909024 CA380590085 |
93 | P>S | No |
ClinGen TOPMed |
|
|
rs1405636346 CA380590067 |
94 | Y>* | No |
ClinGen TOPMed |
|
|
rs936719850 CA222751061 |
96 | L>F | No |
ClinGen gnomAD |
|
|
rs1226558147 CA380590027 |
97 | Q>* | No |
ClinGen gnomAD |
|
|
rs1333451911 CA380590011 |
98 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs925241608 CA222751050 |
101 | E>V | No |
ClinGen Ensembl |
|
|
CA380589946 rs1293380340 |
102 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA380589950 rs1293380340 |
102 | Q>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 103 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174946556 CA380589927 |
103 | Q>R | No |
ClinGen gnomAD |
|
|
rs1407926260 CA380589896 |
105 | V>F | No |
ClinGen TOPMed |
|
|
CA380589898 rs1407926260 |
105 | V>I | No |
ClinGen TOPMed |
|
|
rs1416163433 CA380589880 |
106 | W>* | No |
ClinGen gnomAD |
|
|
CA380589886 rs1335550843 |
106 | W>R | No |
ClinGen TOPMed |
|
|
CA222750191 rs572064639 |
109 | L>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA380589542 rs1234574117 |
111 | N>H | No |
ClinGen gnomAD |
|
|
CA222750190 rs928074121 |
111 | N>S | No |
ClinGen Ensembl |
|
|
CA222750188 rs867642964 |
114 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 114 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA222750184 rs980840838 |
115 | R>G | No |
ClinGen Ensembl |
|
|
rs1294361049 CA380589483 |
118 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA380589470 rs1216887056 |
119 | S>L | No |
ClinGen gnomAD |
|
|
CA380589474 rs1214823113 |
119 | S>T | No |
ClinGen gnomAD |
|
|
CA380589445 rs1440699018 |
122 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 124 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146621810 CA6023280 |
125 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA222750172 rs944320658 |
132 | L>R | No |
ClinGen TOPMed |
No associated diseases with Q96PG1
No regional properties for Q96PG1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96PG1 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTTMQGMEQT | TPGAGPDVPQ | LGNIDVIHSY | LCKGLQEKFF | KRKPKVLGVV | RILIALMSLS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MGIIMMCVAF | SSYEEHPIFV | YVAYTIWGSV | MYPYQLQQEL | EQQKVWNYLK | NLSWRIMGSY |
| 130 | |||||
| LCFGERSELK | PL |