P30040
Gene name |
ERP29 (C12orf8, ERP28) |
Protein name |
Endoplasmic reticulum resident protein 29 |
Names |
ERp29, Endoplasmic reticulum resident protein 28, ERp28, Endoplasmic reticulum resident protein 31, ERp31 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10961 |
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
4 structures for P30040
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2QC7 | X-ray | 290 A | A/B | 34-261 | PDB |
| 5V8Z | X-ray | 210 A | A/C | 158-261 | PDB |
| 5V90 | X-ray | 325 A | A/C | 158-261 | PDB |
| AF-P30040-F1 | Predicted | AlphaFoldDB |
223 variants for P30040
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs754475719 CA6794070 |
3 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs754475719 CA386758404 |
3 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1460610600 CA386758413 |
4 | A>G | No |
ClinGen gnomAD |
|
|
rs752354151 CA6794072 |
4 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA386758415 rs1460610600 |
4 | A>V | No |
ClinGen gnomAD |
|
|
rs1236120791 CA386758420 |
5 | V>L | No |
ClinGen gnomAD |
|
|
COSM3792200 rs772553444 CA6794076 |
6 | P>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs772553444 CA386758436 |
6 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368334361 CA6794075 |
6 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6794074 rs368334361 |
6 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1464192555 CA386758440 |
7 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386758445 rs1325791288 |
7 | R>H | No |
ClinGen TOPMed |
|
| TCGA novel | 7 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6794079 rs369530971 |
8 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6794078 rs375049550 |
8 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6794080 rs141517360 |
9 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6794082 rs553491906 |
10 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553491906 CA6794083 |
10 | F>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762655268 CA6794084 |
11 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751471173 CA6794086 |
12 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1565985855 CA386758495 |
12 | S>T | No |
ClinGen Ensembl |
|
|
rs1047440176 CA243690417 |
13 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6794087 rs759574747 |
14 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6794088 rs767084110 |
15 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA6794089 rs752231140 |
16 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542501885 CA243690428 |
17 | L>F | No |
ClinGen 1000Genomes |
|
|
CA6794091 rs763648928 |
17 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs780409590 CA6794094 |
23 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs367717851 CA6794096 |
24 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367717851 CA6794095 |
24 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367717851 CA243690446 |
24 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243690453 rs373057753 |
26 | A>P | No |
ClinGen Ensembl |
|
|
CA243690454 rs373057753 |
26 | A>S | No |
ClinGen Ensembl |
|
|
CA6794097 COSM935128 rs781692469 |
26 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs748152416 CA386758674 |
28 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA6794098 rs748152416 |
28 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6794100 rs773298381 |
29 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386759038 rs1278227057 |
30 | G>S | No |
ClinGen gnomAD |
|
|
CA386759043 rs1311479545 |
31 | S>R | No |
ClinGen TOPMed |
|
|
CA6794102 rs770804673 |
32 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6794103 rs774322037 |
34 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA243690477 rs886272772 |
34 | H>Y | No |
ClinGen TOPMed |
|
|
rs200299339 CA243690500 |
36 | K>E | No |
ClinGen 1000Genomes gnomAD |
|
|
CA386759086 rs1284011921 |
38 | A>T | No |
ClinGen gnomAD |
|
|
CA386759096 rs1593720230 |
39 | L>P | No |
ClinGen Ensembl |
|
|
CA6794105 rs767542071 |
39 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1003499004 CA243690508 |
40 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1003499004 CA386759097 |
40 | P>T | No |
ClinGen gnomAD |
|
|
CA386759105 rs1362818389 |
41 | L>P | No |
ClinGen TOPMed |
|
|
CA243690534 rs149494744 |
42 | D>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs137981237 CA243690519 |
42 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6794106 rs143957874 |
43 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6794107 rs1300496866 |
43 | T>M | No |
ClinGen TOPMed |
|
|
rs1300496866 CA386759122 |
43 | T>R | No |
ClinGen TOPMed |
|
|
CA386759130 rs1173196781 |
44 | V>I | No |
ClinGen TOPMed |
|
|
rs763665909 CA6794110 |
46 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6794139 rs756678846 |
56 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461097844 CA386760415 |
59 | K>N | No |
ClinGen gnomAD |
|
|
rs778187023 CA386760454 |
60 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200676577 CA243693129 |
61 | D>G | No |
ClinGen 1000Genomes |
|
|
rs1401945138 CA386760471 |
61 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs753934196 CA6794141 |
62 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1479371074 CA386760530 |
63 | Q>* | No |
ClinGen TOPMed |
|
|
CA6794143 rs757471812 |
66 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs879118935 CA243693151 |
67 | G>C | No |
ClinGen TOPMed |
|
|
rs879118935 CA243693145 |
67 | G>R | No |
ClinGen TOPMed |
|
|
rs879118935 CA386760623 |
67 | G>S | No |
ClinGen TOPMed |
|
|
CA243693159 rs996973780 |
69 | K>Q | No |
ClinGen TOPMed |
|
|
CA386760722 rs1256238880 |
70 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 70 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771935142 CA6794147 |
71 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs529253196 COSM1205659 CA6794148 |
75 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs913695833 CA243693173 |
77 | A>T | No |
ClinGen Ensembl |
|
|
CA386760870 rs1565988931 |
78 | E>K | No |
ClinGen Ensembl |
|
|
CA386760920 rs200713981 |
80 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6794150 rs200713981 |
80 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1183521751 CA386760913 |
80 | S>T | No |
ClinGen gnomAD |
|
|
CA386760922 rs200713981 |
80 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749020999 CA6794152 |
83 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175321123 CA386760989 |
84 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1175321123 CA386760986 |
84 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA386760988 rs1175321123 |
84 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA386761000 rs1308957376 |
85 | D>N | No |
ClinGen gnomAD |
|
|
CA6794154 rs772780822 |
88 | V>M | No |
ClinGen ExAC |
|
|
rs1593726962 CA386761085 |
89 | A>T | No |
ClinGen Ensembl |
|
|
CA243693201 rs770918866 |
90 | E>Q | No |
ClinGen Ensembl |
|
|
CA386761138 rs1196346207 |
91 | V>L | No |
ClinGen gnomAD |
|
|
CA6794155 rs550719981 |
92 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 93 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1593726971 CA386761175 |
93 | I>V | No |
ClinGen Ensembl |
|
|
CA243693204 rs1007170753 |
94 | S>A | No |
ClinGen Ensembl |
|
|
CA386750240 rs1365707665 |
96 | Y>C | No |
ClinGen gnomAD |
|
|
CA6794185 rs751793734 |
96 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6794186 rs754731938 |
97 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1352771033 CA386750266 |
99 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6794187 rs780975580 |
102 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs184215050 CA6794188 |
103 | E>K | No |
ClinGen 1000Genomes ExAC |
|
|
CA6794189 rs201886997 |
104 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1593728453 CA386750312 |
105 | S>R | No |
ClinGen Ensembl |
|
|
rs1220096040 CA386750333 |
108 | Y>C | No |
ClinGen gnomAD |
|
|
CA6794192 rs748785895 |
109 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6794193 rs770417320 |
110 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA386750360 rs1396035416 |
112 | K>R | No |
ClinGen gnomAD |
|
|
rs769016601 CA6794196 |
113 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1439540555 CA386750368 |
113 | E>G | No |
ClinGen gnomAD |
|
|
CA386750365 rs1388345466 |
113 | E>Q | No |
ClinGen TOPMed |
|
|
CA6794197 rs777167354 |
114 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6794198 rs762307012 |
114 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765817231 CA6794199 |
116 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA386750437 rs1348261147 |
117 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs763082456 CA6794201 |
118 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6794202 rs766370416 |
118 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1045932440 CA243649880 |
119 | Y>C | No |
ClinGen TOPMed |
|
|
COSM1358812 rs146674309 CA6794203 |
120 | L>F | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA386750496 rs146674309 |
120 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755173279 CA243649896 |
122 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386750537 rs1463418907 |
122 | R>Q | No |
ClinGen TOPMed |
|
|
COSM430347 rs755173279 CA6794204 |
122 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA386750554 rs1354274865 |
123 | D>G | No |
ClinGen gnomAD |
|
|
CA243649899 rs937640190 |
123 | D>H | No |
ClinGen TOPMed |
|
|
rs1323038694 CA386750635 |
127 | E>G | No |
ClinGen gnomAD |
|
|
rs1237250754 CA386750671 |
129 | P>R | No |
ClinGen gnomAD |
|
|
CA243649931 rs1056433471 |
130 | V>L | No |
ClinGen TOPMed |
|
|
CA6794206 rs752470142 |
137 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA386750820 rs1411716624 |
138 | V>A | No |
ClinGen gnomAD |
|
|
CA386750842 rs1165770208 |
141 | I>M | No |
ClinGen gnomAD |
|
|
rs1363420587 CA386750843 |
142 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs532086881 CA6794208 |
142 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749188876 CA6794209 |
143 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs895507250 CA243649967 |
143 | R>H | No |
ClinGen Ensembl |
|
|
rs1013931699 CA243649983 |
144 | W>C | No |
ClinGen Ensembl |
|
|
CA6794210 rs756736294 |
145 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs149787238 CA6794211 |
147 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6794212 rs145773903 |
149 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243650010 rs145773903 |
149 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6794213 rs771592614 |
151 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA386750916 rs1398024209 |
153 | G>S | No |
ClinGen TOPMed |
|
|
rs1400262815 CA386750940 |
154 | M>T | No |
ClinGen TOPMed |
|
|
CA386750965 rs1228336476 |
155 | P>L | No |
ClinGen gnomAD |
|
|
CA386750974 rs1281351844 |
156 | G>A | No |
ClinGen gnomAD |
|
|
CA6794214 rs200774449 |
157 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1302336697 CA386751024 |
159 | P>L | No |
ClinGen TOPMed |
|
|
CA243650066 rs967675451 |
161 | Y>H | No |
ClinGen TOPMed |
|
|
CA6794220 rs201620890 |
162 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6794221 rs759714503 |
162 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1033170199 CA243650100 |
163 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs752987002 COSM1205660 CA6794223 |
163 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6794225 rs202069025 |
166 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386751135 rs1593728702 |
167 | E>K | No |
ClinGen Ensembl |
|
|
CA6794226 rs753761490 |
169 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6794228 rs201100555 |
171 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6794229 rs749877798 |
172 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1483124068 CA386751256 |
173 | G>D | No |
ClinGen TOPMed |
|
|
CA6794231 rs34441328 |
175 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243650147 rs955603932 |
175 | E>G | No |
ClinGen TOPMed |
|
|
CA6794232 rs145232105 |
176 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145232105 CA6794233 |
176 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6794234 rs375311941 |
177 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs367904459 CA6794235 |
177 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367904459 CA243650186 |
177 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749758716 CA6794236 |
179 | A>G | No |
ClinGen ExAC |
|
|
rs771308412 CA6794237 |
181 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6794238 rs147970597 |
182 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243650206 rs759534955 |
183 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1276993419 CA386751430 |
186 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1276993419 CA386751431 |
186 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386751441 rs1444582830 |
187 | N>K | No |
ClinGen gnomAD |
|
|
CA386751456 rs1312342367 |
190 | S>C | No |
ClinGen TOPMed |
|
|
CA386751455 rs1312342367 |
190 | S>G | No |
ClinGen TOPMed |
|
|
CA6794240 rs772146162 |
191 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs867986030 CA243650208 |
195 | Q>* | No |
ClinGen Ensembl |
|
|
rs1262523991 CA386751492 |
195 | Q>R | No |
ClinGen gnomAD |
|
|
rs1196097238 CA386751525 |
199 | A>G | No |
ClinGen gnomAD |
|
|
CA6794243 rs539717665 |
200 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763836393 CA6794244 |
201 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6794245 rs753546254 |
201 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA386751560 rs866051165 |
204 | K>N | No |
ClinGen gnomAD |
|
|
CA6794247 rs765072647 |
206 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA386751579 rs1318416259 |
207 | G>E | No |
ClinGen gnomAD |
|
| rs754819048 | 208 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1298921 rs200946700 CA243650282 |
208 | K>N | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA6794249 rs370592993 |
210 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757913655 CA6794250 |
212 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1345674422 CA386751612 |
212 | Q>R | No |
ClinGen gnomAD |
|
|
CA386751629 rs1235658447 |
214 | E>D | No |
ClinGen gnomAD |
|
|
CA6794252 rs779720718 |
214 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751205381 CA386751639 |
216 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751205381 CA6794253 |
216 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6794255 rs754704655 |
217 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6794256 rs140712353 |
218 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749606802 CA6794257 |
221 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6794258 rs192249992 |
222 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746390284 CA6794260 |
223 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA386751683 rs1157844138 |
223 | R>W | No |
ClinGen gnomAD |
|
|
CA386751693 rs1158594765 |
225 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1389445913 CA386751705 |
226 | R>S | No |
ClinGen gnomAD |
|
|
CA243650378 rs1056002430 |
228 | I>F | No |
ClinGen TOPMed |
|
|
CA6794262 rs775580113 |
229 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243650380 rs867013003 |
229 | E>K | No |
ClinGen TOPMed |
|
|
CA6794263 CA6794264 rs747131827 |
230 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs748312022 CA243650412 |
232 | K>Q | No |
ClinGen Ensembl |
|
|
CA386751745 rs1373628299 |
233 | M>V | No |
ClinGen gnomAD |
|
|
CA386751755 rs1355979030 |
234 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs765083552 CA6794267 |
236 | G>E | No |
ClinGen ExAC |
|
|
CA6794266 rs377230317 |
236 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs1352097022 | 238 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772964573 CA6794268 |
238 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367709685 CA6794271 |
239 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765945493 CA6794270 |
239 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs763003414 CA6794269 |
239 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs754580189 CA6794272 |
240 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6794273 rs767076764 |
241 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs752403892 CA6794274 |
244 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1014400414 CA243650463 |
246 | N>I | No |
ClinGen Ensembl |
|
|
CA243650471 rs997584842 |
246 | N>K | No |
ClinGen TOPMed |
|
|
rs1457450905 CA386751891 |
251 | F>V | No |
ClinGen TOPMed |
|
|
rs1051778649 CA243650480 |
251 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6794277 rs746335215 |
257 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6794276 rs779360111 |
257 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386752011 rs1331041379 |
257 | E>V | No |
ClinGen gnomAD |
|
|
rs561392506 CA6794280 |
259 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs561392506 CA386752053 |
259 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1041395932 CA243650549 |
261 | L>V | No |
ClinGen Ensembl |
No associated diseases with P30040
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell surface | The external part of the cell wall and/or plasma membrane. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
| melanosome | A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| smooth endoplasmic reticulum | The smooth endoplasmic reticulum (smooth ER or SER) has no ribosomes attached to it. The smooth ER is the recipient of the proteins synthesized in the rough ER. Those proteins to be exported are passed to the Golgi complex, the resident proteins are returned to the rough ER and the lysosomal proteins after phosphorylation of their mannose residues are passed to the lysosomes. Glycosylation of the glycoproteins also continues. The smooth ER is the site of synthesis of lipids, including the phospholipids. The membranes of the smooth ER also contain enzymes that catalyze a series of reactions to detoxify both lipid-soluble drugs and harmful products of metabolism. Large quantities of certain compounds such as phenobarbital cause an increase in the amount of the smooth ER. |
| transport vesicle | Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| chaperone binding | Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| negative regulation of protein secretion | Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a protein from a cell. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of MAP kinase activity | Any process that activates or increases the frequency, rate or extent of MAP kinase activity. |
| positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
| protein folding | The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure. |
| protein secretion | The controlled release of proteins from a cell. |
| protein unfolding | The process of assisting in the disassembly of non-covalent linkages in a protein or protein aggregate, often where the proteins are in a non-functional or denatured state. |
| regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | Any process that modulates the frequency, rate or extent of an endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAVPRAAF | LSPLLPLLLG | FLLLSAPHGG | SGLHTKGALP | LDTVTFYKVI | PKSKFVLVKF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DTQYPYGEKQ | DEFKRLAENS | ASSDDLLVAE | VGISDYGDKL | NMELSEKYKL | DKESYPVFYL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FRDGDFENPV | PYTGAVKVGA | IQRWLKGQGV | YLGMPGCLPV | YDALAGEFIR | ASGVEARQAL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LKQGQDNLSS | VKETQKKWAE | QYLKIMGKIL | DQGEDFPASE | MTRIARLIEK | NKMSDGKKEE |
| 250 | 260 | ||||
| LQKSLNILTA | FQKKGAEKEE | L |