Q8N5I9
Gene name |
NOPCHAP1 |
Protein name |
NOP protein chaperone 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:121053 |
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 Q8N5I9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N5I9-F1 | Predicted | AlphaFoldDB |
180 variants for Q8N5I9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs749580288 | 1 | M>? | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs78938272 CA242596711 |
2 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs958676661 CA386352416 |
2 | E>G | No |
ClinGen TOPMed |
|
|
CA386352414 rs1179246349 |
2 | E>K | No |
ClinGen gnomAD |
|
|
CA242596704 rs958676661 |
2 | E>V | No |
ClinGen TOPMed |
|
|
rs1452414826 CA386352418 |
3 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6757077 rs368545818 |
4 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771638970 CA386352427 |
4 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6757078 rs771638970 |
4 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368545818 CA386352424 |
4 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386352431 rs1225201049 |
5 | G>D | No |
ClinGen gnomAD |
|
|
CA6757081 rs12580271 |
5 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6757080 VAR_056833 rs12580271 |
5 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA386352436 rs1308394065 |
6 | K>E | No |
ClinGen TOPMed |
|
|
CA242596734 CA386352440 rs776314525 |
6 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374254858 CA6757084 |
7 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374254858 CA6757083 |
7 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1215149969 CA386352442 |
7 | P>S | No |
ClinGen gnomAD |
|
|
rs1129593 CA386352446 |
8 | K>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1129593 CA386352445 |
8 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6757086 rs1129593 VAR_060438 |
8 | K>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA386352455 rs935241447 |
9 | A>D | No |
ClinGen gnomAD |
|
|
CA386352452 rs1368139956 |
9 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA242596764 rs935241447 |
9 | A>V | No |
ClinGen gnomAD |
|
|
CA6757089 rs371639910 |
10 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371639910 COSM3810843 CA6757088 |
10 | S>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA386352460 rs1193344182 |
10 | S>R | No |
ClinGen gnomAD |
|
|
CA6757087 rs371639910 |
10 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777900503 CA6757091 |
11 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6757092 rs535539364 |
11 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA242596788 rs535539364 |
11 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386352462 rs777900503 |
11 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777900503 CA6757090 |
11 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386352481 rs1309858163 |
14 | S>P | No |
ClinGen gnomAD |
|
|
CA386352491 rs1346481293 |
15 | S>L | No |
ClinGen gnomAD |
|
|
CA6757094 rs746380021 |
16 | P>L | Variant assessed as Somatic; 4.72e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA386352492 rs1419889053 |
16 | P>T | No |
ClinGen gnomAD |
|
|
rs374997946 CA6757096 |
17 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386352497 rs1592746602 |
17 | T>P | No |
ClinGen Ensembl |
|
|
rs746561893 CA6757099 |
18 | R>Q | No |
ClinGen ExAC |
|
|
CA386352503 rs1372485617 |
18 | R>W | No |
ClinGen gnomAD |
|
|
rs117368247 CA6757102 |
19 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs117368247 CA6757103 |
19 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6757104 rs201369478 |
19 | D>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs1355986071 CA386352524 |
22 | G>R | No |
ClinGen gnomAD |
|
|
CA6757105 rs371351832 |
23 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386352529 rs371351832 |
23 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA386352536 rs1345136814 |
24 | P>A | No |
ClinGen TOPMed |
|
|
CA6757107 rs766374958 |
27 | K>N | No |
ClinGen ExAC |
|
|
CA6757106 rs763003278 |
27 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6757108 rs751516011 |
29 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1470032125 CA386352576 |
31 | T>A | No |
ClinGen gnomAD |
|
|
CA386352584 rs1366246266 |
32 | A>V | No |
ClinGen TOPMed |
|
|
rs764224128 CA6757110 |
34 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410711100 CA386352615 |
37 | R>G | No |
ClinGen TOPMed |
|
|
CA6757111 rs754078464 |
37 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386352617 rs754078464 |
37 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386352894 rs1260434167 |
39 | G>D | No |
ClinGen gnomAD |
|
|
CA6757113 rs779264151 |
39 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA386352897 rs553044327 |
40 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1240681412 CA386352900 |
40 | I>T | No |
ClinGen gnomAD |
|
|
rs553044327 CA6757129 |
40 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386352909 rs765405252 |
41 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs765405252 CA6757130 |
41 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1287594745 CA386352922 |
43 | R>M | No |
ClinGen TOPMed |
|
|
CA6757131 rs369869604 |
43 | R>W | No |
ClinGen ESP ExAC TOPMed |
|
|
CA386352937 rs1229862203 |
45 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 46 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386352940 rs1285075238 |
46 | I>F | No |
ClinGen TOPMed |
|
|
rs752012117 CA6757135 |
50 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs752012117 CA6757134 |
50 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA242598184 rs187213332 |
50 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA386352987 rs1348793939 |
53 | R>T | No |
ClinGen TOPMed |
|
|
CA386352997 rs1400090256 |
54 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6757138 rs755650170 |
57 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1398436956 CA386353036 |
61 | V>I | No |
ClinGen gnomAD |
|
|
rs748939881 CA386353042 |
62 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770919118 CA6757141 |
62 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs748939881 CA6757140 |
62 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA242598236 rs201752109 COSM1729677 |
63 | I>T | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed gnomAD |
|
rs1347819210 CA386353052 |
64 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs745808467 CA6757143 |
65 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283003969 CA386353069 |
65 | R>T | No |
ClinGen gnomAD |
|
|
rs374019637 CA386353104 |
67 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6757145 rs776606163 |
67 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6757144 rs374019637 |
67 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1349109962 CA386353635 |
68 | L>* | No |
ClinGen TOPMed |
|
|
rs1160591371 CA386353651 |
70 | D>E | No |
ClinGen gnomAD |
|
|
rs756914491 CA6757161 |
70 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1424316795 CA386353657 |
71 | Q>H | No |
ClinGen gnomAD |
|
|
rs778597849 CA6757162 |
71 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA6757164 rs771733790 |
73 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA386353677 rs1241296847 |
74 | T>I | No |
ClinGen TOPMed |
|
|
CA6757165 rs373550337 |
76 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6757166 rs746944094 |
78 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs773217138 CA6757168 |
79 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6757167 rs769865983 |
79 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6757170 rs565928398 |
81 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6757169 rs377566774 |
81 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6757172 rs759991708 |
83 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA6757174 rs145611751 |
83 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6757173 rs145611751 |
83 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386353733 rs1565938719 |
84 | E>A | No |
ClinGen Ensembl |
|
|
rs761199161 CA6757175 |
84 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373230527 CA242600414 |
85 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753351037 CA6757177 |
88 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242600424 rs549921928 |
90 | M>I | No |
ClinGen Ensembl |
|
|
rs1467273417 CA386353776 |
90 | M>T | No |
ClinGen gnomAD |
|
|
CA386353780 rs1213146909 |
91 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs757002789 CA6757178 |
91 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA242600434 rs191930196 |
93 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA6757179 rs778667970 |
95 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 95 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6757181 rs758280475 |
96 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377084571 CA242600446 |
97 | R>C | No |
ClinGen ESP |
|
|
CA6757182 rs199516315 |
97 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 97 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6757183 rs200931216 |
103 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386353869 rs1347614516 |
105 | G>W | No |
ClinGen TOPMed |
|
|
CA6757184 rs768529525 |
106 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs777858752 CA386353881 |
107 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777858752 CA6757185 |
107 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749405652 CA6757186 |
109 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6757187 rs368287596 |
110 | V>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs999687757 CA242600511 |
111 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs746117924 CA6757207 |
116 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1257882494 CA386354129 |
118 | F>S | No |
ClinGen gnomAD |
|
|
CA386354138 rs1490595824 |
119 | E>A | No |
ClinGen TOPMed |
|
|
CA386354143 rs1401833748 |
120 | M>L | No |
ClinGen gnomAD |
|
|
CA242602036 rs911291904 |
120 | M>R | No |
ClinGen Ensembl |
|
|
CA6757209 rs371748784 |
122 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776031032 CA6757210 |
122 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6757211 rs747421151 |
123 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA386354165 rs1479016857 |
123 | S>P | No |
ClinGen gnomAD |
|
|
CA386354167 rs747421151 |
123 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs777336739 CA6757213 |
128 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs777336739 CA386354198 |
128 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1592748896 CA386354204 |
129 | D>H | No |
ClinGen Ensembl |
|
|
CA6757215 rs764815193 |
130 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386354212 rs764815193 |
130 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386354223 rs1452519363 |
131 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1295976440 CA386354226 |
132 | E>K | No |
ClinGen gnomAD |
|
|
CA386354253 rs1222938914 |
135 | S>L | No |
ClinGen TOPMed |
|
|
CA386354255 rs1362127730 |
136 | Q>* | No |
ClinGen gnomAD |
|
|
CA6757217 rs374710696 |
137 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1204234999 CA386354270 |
138 | S>G | No |
ClinGen Ensembl |
|
|
rs766056750 CA6757219 |
138 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA6757218 rs766056750 |
138 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA242602120 rs11554636 |
142 | S>G | No |
ClinGen Ensembl |
|
|
CA386354312 rs1285365196 |
144 | E>* | No |
ClinGen TOPMed |
|
|
CA6757220 rs367786401 |
144 | E>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs138936935 CA6757221 |
145 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1303453153 CA386354330 |
147 | D>N | No |
ClinGen gnomAD |
|
|
rs755952301 CA6757223 |
148 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779076625 CA6757224 |
149 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745896625 CA6757225 |
151 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA386354368 rs1246541660 |
152 | I>V | No |
ClinGen gnomAD |
|
|
rs376760830 CA242602152 |
153 | P>S | No |
ClinGen ESP |
|
|
CA6757226 rs758473392 |
157 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6757228 rs747222960 |
158 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6757227 rs780475223 |
158 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs769146367 CA6757229 |
159 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1203090211 CA386354446 |
164 | P>S | No |
ClinGen gnomAD |
|
|
rs369460633 CA6757231 |
165 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386354459 rs1302246468 |
166 | S>P | No |
ClinGen gnomAD |
|
|
CA386354495 rs1430795723 |
171 | G>D | No |
ClinGen TOPMed |
|
|
rs202087919 CA6757233 |
175 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1477281685 CA386354540 |
177 | D>E | No |
ClinGen TOPMed |
|
|
rs184257841 CA6757234 |
178 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6757236 rs765859693 |
181 | S>N | No |
ClinGen ExAC |
|
|
rs377159683 CA6757239 |
182 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6757240 rs759124890 |
184 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs759124890 CA242602207 |
184 | K>E | No |
ClinGen ExAC gnomAD |
|
| rs777032057 | 184 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs777032057 | 185 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6757241 rs767316407 |
185 | K>T | No |
ClinGen ExAC |
|
|
rs369173579 CA242602213 |
186 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6757242 rs369173579 |
186 | K>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386354598 rs369173579 |
186 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6757243 rs756111844 |
186 | K>Y | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q8N5I9
No regional properties for Q8N5I9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8N5I9 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| box C/D snoRNP complex binding | Binding to a box C/D snoRNP complex. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| box C/D snoRNP assembly | The aggregation, arrangement and bonding together of proteins and a box C/D snoRNA to form a box C/D small nucleolar ribonucleoprotein (snoRNP) complex. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEVHGKPKAS | PSCSSPTRDS | SGVPVSKELL | TAGSDGRGGI | WDRLLINSQP | KSRKTSTLQT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VRIERSPLLD | QVQTFLPQMA | RANEKLRKEM | AAAPPGRFNI | ENIDGPHSKV | IQMDVALFEM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NQSDSKEVDS | SEESSQDSSE | NSSESEDEDD | SIPSEVTIDN | IKLPNSEGGK | GKIEVLDSPA |
| SKKKK |