Q14849
PR
Gene name |
STARD3 |
Protein name |
StAR-related lipid transfer protein 3 |
Names |
Metastatic lymph node gene 64 protein, MLN 64, Protein CAB1, START domain-containing protein 3, StARD3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10948 |
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
5 structures for Q14849
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1EM2 | X-ray | 220 A | A | 216-444 | PDB |
| 5I9J | X-ray | 174 A | A | 216-444 | PDB |
| 6TQR | X-ray | 185 A | E/F | 200-216 | PDB |
| 6TQU | X-ray | 240 A | C/D | 196-216 | PDB |
| AF-Q14849-F1 | Predicted | AlphaFoldDB |
392 variants for Q14849
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 3 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8532177 rs747611901 |
6 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA399280538 rs1448124939 |
7 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA399280540 rs1448124939 |
7 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8532178 rs771424762 |
9 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA290423789 rs929427176 |
10 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs929427176 CA290423787 |
10 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8532179 rs777019083 |
10 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290423801 rs1002891087 |
11 | D>E | No |
ClinGen TOPMed |
|
|
COSM3795559 CA399280603 rs1567857691 |
11 | D>N | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs527648918 CA8532180 |
13 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA8532181 rs765536882 |
14 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8532182 rs140311478 |
14 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399280719 rs140311478 |
14 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8532183 rs763015814 |
15 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs764244288 CA8532184 |
17 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237519672 CA399280815 |
18 | A>T | No |
ClinGen gnomAD |
|
|
rs200603860 CA8532186 |
19 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376528158 CA8532187 |
20 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371019835 CA8532189 |
22 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1466489541 CA399280940 |
23 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 23 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777409490 CA8532193 |
28 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA8532195 rs561208767 |
30 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8532194 rs746468450 |
30 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA399281254 rs1265456349 |
31 | S>N | No |
ClinGen TOPMed |
|
|
CA8532197 rs1555604885 |
32 | L>P | No |
ClinGen Ensembl |
|
|
rs781680172 CA8532196 |
32 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs770144965 CA8532200 |
33 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746332977 CA399281348 |
33 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746332977 CA8532199 |
33 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775654792 CA8532201 |
34 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs774114973 | 34 | S>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1425365868 CA399281407 |
35 | H>R | No |
ClinGen gnomAD |
|
|
rs768753466 CA8532203 |
35 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399281445 rs1403797716 |
36 | L>I | No |
ClinGen TOPMed |
|
|
CA8532204 rs774541743 |
38 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8532206 rs767668825 |
39 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765182185 CA8532209 |
41 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs954474892 CA399281701 |
43 | R>* | No |
ClinGen TOPMed |
|
|
CA290423866 rs954474892 |
43 | R>G | No |
ClinGen TOPMed |
|
|
rs149648909 CA8532211 |
43 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs965388051 CA290423875 |
45 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs758111062 CA8532212 |
45 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs975112902 CA290423878 |
46 | I>M | No |
ClinGen TOPMed |
|
|
rs1315910405 CA399281790 |
47 | S>P | No |
ClinGen gnomAD |
|
|
rs1212139256 CA399281923 |
50 | R>C | No |
ClinGen gnomAD |
|
|
rs201367431 CA8532213 |
50 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1482607550 CA399281945 |
51 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA399281944 rs1482607550 |
51 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8532215 rs751173622 |
51 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8532214 rs751173622 |
51 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780613788 CA8532216 |
53 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA290423889 rs983910413 |
54 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399282066 rs983910413 |
54 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA399282089 rs1267132336 |
55 | L>V | No |
ClinGen TOPMed |
|
|
rs1251317476 CA399282136 |
57 | V>I | No |
ClinGen gnomAD |
|
|
rs1221750137 CA399282166 |
58 | T>I | No |
ClinGen TOPMed |
|
|
rs749582349 COSM1749988 CA399282248 |
60 | D>N | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs749582349 CA8532220 |
60 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046272726 CA290423908 |
69 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1468781102 CA399282541 |
69 | I>V | No |
ClinGen gnomAD |
|
|
rs370238096 CA8532229 |
71 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8532230 rs762677727 |
72 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA8532259 rs137950697 |
74 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8532258 rs137950697 |
74 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8532260 rs779211915 |
75 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1333205437 CA399284916 |
78 | I>V | No |
ClinGen gnomAD |
|
|
rs200525238 CA8532261 |
79 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758745055 CA8532262 |
79 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290425211 rs758745055 |
79 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399285038 rs1277240132 |
80 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1434859734 CA399285123 |
81 | N>K | No |
ClinGen gnomAD |
|
|
rs770919993 CA8532265 |
83 | E>G | No |
ClinGen ExAC |
|
|
CA8532264 rs142439753 |
83 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776715325 CA8532266 |
84 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA399285324 rs529470374 |
86 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399285354 rs1215741230 |
87 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs768630379 CA8532268 |
88 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399285450 rs1333579361 |
89 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA290425225 rs774167809 |
90 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259214152 CA399285525 |
90 | N>S | No |
ClinGen gnomAD |
|
|
rs1441187800 CA399285537 |
91 | F>L | No |
ClinGen TOPMed |
|
|
CA8532270 rs761571370 |
92 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs771816906 CA8532271 |
94 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8532272 rs772858527 |
95 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399285656 rs772858527 |
95 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290425262 rs370452295 |
97 | D>G | No |
ClinGen ESP TOPMed |
|
|
rs1473199967 CA399285744 |
97 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA399285740 rs1473199967 |
97 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA399285747 rs1473199967 |
97 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8532274 rs765867336 |
98 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs757457699 CA8532301 |
100 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8532300 rs751944635 |
100 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1278240757 CA399286192 |
101 | L>R | No |
ClinGen gnomAD |
|
|
CA290425697 rs999656773 |
104 | F>L | No |
ClinGen TOPMed |
|
|
rs368331751 CA8532302 |
105 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399286370 rs368331751 |
105 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399286505 rs1254754953 |
108 | G>R | No |
ClinGen TOPMed |
|
|
CA8532305 rs780053453 |
114 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392709613 CA399288354 |
115 | V>A | No |
ClinGen gnomAD |
|
|
CA8532307 rs771996903 |
115 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_027877 CA8532310 rs1877031 |
117 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA399288383 rs746798367 |
117 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399288417 rs140618662 |
119 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8532312 rs140618662 |
119 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776379242 CA8532311 |
119 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769438900 CA8532313 |
120 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1415944322 CA399288448 |
121 | W>* | No |
ClinGen TOPMed |
|
|
CA399288444 rs1295201436 |
121 | W>S | No |
ClinGen TOPMed |
|
|
rs1597797889 CA399288497 |
123 | V>G | No |
ClinGen Ensembl |
|
|
CA8532314 rs775123131 |
124 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA399288526 rs1301953548 |
125 | A>E | No |
ClinGen gnomAD |
|
|
CA399288532 rs1301953548 |
125 | A>V | No |
ClinGen gnomAD |
|
|
rs1356701624 CA399288633 |
126 | V>G | No |
ClinGen gnomAD |
|
|
CA290425845 rs974922251 |
127 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1212870502 CA399288667 |
127 | T>P | No |
ClinGen gnomAD |
|
|
rs775180395 CA8532334 |
128 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775180395 CA8532335 |
128 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192716707 CA399288786 |
130 | V>L | No |
ClinGen TOPMed |
|
|
rs1467331119 CA399288824 |
131 | S>C | No |
ClinGen TOPMed |
|
|
CA290425850 rs539903821 |
133 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA399289029 rs1472648638 |
138 | K>R | No |
ClinGen gnomAD |
|
|
CA399289132 rs1567859859 |
141 | L>H | No |
ClinGen Ensembl |
|
|
rs918338579 CA290425855 |
141 | L>V | No |
ClinGen Ensembl |
|
|
CA290425858 rs939006988 |
143 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs939006988 CA290425867 |
143 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs770151437 CA290426074 |
144 | L>V | No |
ClinGen Ensembl |
|
|
rs1175635264 CA399289347 |
145 | L>P | No |
ClinGen gnomAD |
|
|
rs778526778 CA8532371 |
148 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416270652 CA399289450 |
148 | G>R | No |
ClinGen gnomAD |
|
|
rs1258784003 CA399289486 |
149 | A>S | No |
ClinGen TOPMed |
|
|
CA399289501 rs1165352659 |
149 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 151 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399289581 rs1416944702 |
152 | Y>C | No |
ClinGen gnomAD |
|
|
rs771566450 CA8532373 |
155 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA399289693 rs1244186689 |
156 | I>V | No |
ClinGen TOPMed |
|
|
rs374855495 CA8532375 |
157 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 159 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1233568949 CA399289881 |
161 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1333228396 CA399289934 |
162 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM315640 rs1333228396 CA399289925 |
162 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA399289993 rs1567860120 |
163 | W>C | No |
ClinGen Ensembl |
|
|
CA399290065 rs1313410093 |
166 | T>N | No |
ClinGen TOPMed |
|
|
CA399290115 rs1213907662 |
167 | W>C | No |
ClinGen TOPMed |
|
|
CA399290085 rs1220942380 |
167 | W>R | No |
ClinGen gnomAD |
|
|
CA399290144 rs1455842492 |
168 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1053054175 CA290426124 |
175 | P>R | No |
ClinGen Ensembl |
|
|
rs775684662 CA8532380 |
176 | Q>H | No |
ClinGen ExAC |
|
|
CA399290461 rs1174869857 |
177 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 178 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399290534 rs1290345941 |
179 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 181 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140933373 CA290426131 |
181 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs148577327 CA8532382 |
182 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148577327 CA399290671 |
182 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8532418 rs774624301 |
184 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772239501 CA8532420 |
187 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8532421 rs776441012 |
188 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399291146 rs1384626422 |
189 | V>L | No |
ClinGen gnomAD |
|
|
CA399291250 rs1395879303 |
192 | A>D | No |
ClinGen gnomAD |
|
|
rs765001493 CA8532424 |
193 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775353741 CA8532425 |
193 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399291286 rs1315231678 |
194 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs766946805 CA8532430 |
199 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8532429 rs761342749 |
199 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs147293747 CA290426359 |
200 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147293747 CA8532432 |
200 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1413612345 CA399291435 |
201 | A>T | No |
ClinGen TOPMed |
|
|
CA290426364 rs926969556 |
201 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA290426366 rs200068907 |
204 | E>K | No |
ClinGen gnomAD |
|
|
CA8532434 rs571653341 |
208 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1189476805 CA399291706 |
210 | P>H | No |
ClinGen TOPMed |
|
|
rs1324489328 CA399291700 |
210 | P>S | No |
ClinGen gnomAD |
|
|
CA399291715 rs1392071928 |
211 | P>A | No |
ClinGen gnomAD |
|
|
rs1334183018 CA399291757 |
212 | E>K | No |
ClinGen gnomAD |
|
|
CA8532456 rs11556624 VAR_027878 |
216 | G>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8532458 rs747086989 |
217 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1039617574 CA290426568 |
220 | E>Q | No |
ClinGen TOPMed |
|
|
rs770864914 CA8532459 |
221 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1597799135 CA399292185 |
223 | E>D | No |
ClinGen Ensembl |
|
|
rs749156593 CA8532462 |
225 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 229 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765188414 CA8532464 |
233 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765188414 CA399292392 |
233 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436663203 CA399292405 |
233 | A>V | No |
ClinGen gnomAD |
|
|
CA399292415 rs1280062163 |
234 | Q>* | No |
ClinGen TOPMed |
|
|
CA399292418 rs1280062163 |
234 | Q>K | No |
ClinGen TOPMed |
|
|
CA399292606 rs570723359 |
236 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs570723359 CA399292603 |
236 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs570723359 CA290426942 |
236 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8532476 rs199983873 |
236 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1368329064 CA399292609 |
237 | E>K | No |
ClinGen TOPMed |
|
|
rs140449782 CA8532479 |
239 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs544183170 COSM1382853 CA8532481 |
240 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA8532482 COSM978643 rs754903815 |
240 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1317852731 CA399292753 |
242 | G>E | No |
ClinGen gnomAD |
|
|
CA399292766 rs1430048449 |
243 | K>E | No |
ClinGen TOPMed |
|
|
CA399292827 rs747960154 |
244 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8532485 rs771727347 |
246 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399292899 rs1467204364 |
247 | A>V | No |
ClinGen gnomAD |
|
|
CA399292933 rs1409017222 |
249 | V>M | No |
ClinGen gnomAD |
|
|
CA290426981 rs11556625 |
250 | D>E | No |
ClinGen Ensembl |
|
|
rs1234198037 CA399292990 |
251 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8532488 rs770536388 |
251 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 255 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8532490 rs372857612 |
256 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399293333 rs1393014407 |
261 | F>S | No |
ClinGen gnomAD |
|
|
rs776088453 CA8532492 |
262 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 262 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399293455 rs1567861015 |
264 | N>I | No |
ClinGen Ensembl |
|
|
CA8532494 rs764294263 |
264 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386458696 CA399294831 |
267 | Y>C | No |
ClinGen TOPMed |
|
|
CA399294840 rs1434993440 |
268 | G>E | No |
ClinGen gnomAD |
|
|
CA8532526 rs148897013 |
270 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1433436554 CA399294860 |
271 | V>M | No |
ClinGen gnomAD |
|
|
rs145490382 CA399294892 |
272 | Y>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372769740 CA8532530 |
273 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372769740 CA8532529 |
273 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1207156591 CA399294918 |
274 | I>T | No |
ClinGen Ensembl |
|
|
rs1238865716 CA399294945 |
276 | V>I | No |
ClinGen TOPMed |
|
|
CA399294962 rs1183755592 |
277 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 277 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305778409 CA399294972 |
278 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 280 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8532532 rs191775850 |
280 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762116328 CA8532534 |
281 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs772356642 CA8532535 |
281 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8532537 rs760874642 |
282 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773438356 CA8532536 |
282 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA399295055 rs1475072395 |
283 | F>I | No |
ClinGen gnomAD |
|
|
rs761848052 CA8532540 |
284 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 286 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763964472 CA8532541 |
286 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA399295210 rs1366640336 |
287 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 288 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8532571 rs766071568 |
289 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748722348 CA8532570 |
289 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8532572 rs267604834 |
290 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399295250 rs1334870489 |
290 | P>S | No |
ClinGen gnomAD |
|
|
CA399295265 rs1439186812 |
291 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1182146480 CA399295270 |
291 | C>Y | No |
ClinGen gnomAD |
|
|
rs35673246 CA8532573 |
293 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376382705 CA8532574 |
293 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1161531737 CA399295378 |
296 | V>A | No |
ClinGen gnomAD |
|
|
CA290427526 rs200494007 |
296 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200494007 CA8532577 |
296 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399295410 rs1398804631 |
298 | Q>R | No |
ClinGen gnomAD |
|
|
CA399295430 rs1269385139 |
299 | E>D | No |
ClinGen TOPMed |
|
|
CA399295441 rs1204214123 |
300 | V>A | No |
ClinGen TOPMed |
|
|
rs761881442 CA8532578 |
301 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 302 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399295493 rs767537907 |
305 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8532579 rs767537907 |
305 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399295491 rs767537907 |
305 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 305 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8532580 rs773234200 |
306 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs760577089 CA8532581 |
306 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA399295555 rs1209422034 |
309 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA399295609 rs1244056536 |
311 | N>K | No |
ClinGen gnomAD |
|
|
CA399295843 rs1340872458 |
316 | A>T | No |
ClinGen gnomAD |
|
|
rs368208825 CA8532605 |
319 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 320 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399296036 rs1382748332 |
320 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8532607 rs372826992 |
321 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8532609 rs763532329 |
322 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA8532608 rs763532329 |
322 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8532610 rs757775646 |
323 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA290427765 rs775738757 |
324 | E>* | No |
ClinGen Ensembl |
|
|
CA399296134 rs1311930594 |
324 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA290427767 rs950338754 |
326 | N>D | No |
ClinGen Ensembl |
|
|
CA399296219 rs1231502401 |
328 | L>F | No |
ClinGen gnomAD |
|
|
CA399296246 rs1262913607 |
329 | I>V | No |
ClinGen gnomAD |
|
|
CA399296274 rs1352032672 |
330 | S>P | No |
ClinGen gnomAD |
|
|
CA399296308 rs1208711353 |
331 | Y>C | No |
ClinGen gnomAD |
|
|
CA290427773 rs1045873498 |
333 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA399296393 rs1194456914 |
335 | A>T | No |
ClinGen gnomAD |
|
|
rs749454211 CA8532615 |
337 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs565032635 CA8532617 |
338 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565032635 CA8532616 |
338 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770881714 CA8532619 |
339 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs770881714 CA399296517 |
339 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs759409887 CA8532621 |
340 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA399296551 rs1326057698 |
340 | G>D | No |
ClinGen gnomAD |
|
|
rs759409887 CA399296542 |
340 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs201876420 CA8532622 |
341 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775141864 CA8532623 |
343 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 344 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290427910 rs930419257 |
348 | V>M | No |
ClinGen Ensembl |
|
|
rs775258400 CA8532641 |
350 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768273573 CA8532643 |
351 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8532642 rs748976068 |
351 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8532645 rs761416520 |
352 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs34408242 CA8532646 |
352 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34408242 CA399296979 |
352 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399296977 rs761416520 |
352 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773783186 CA8532647 |
353 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA399297078 rs775939365 |
355 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA290427931 rs775939365 |
355 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs761260206 CA8532648 |
355 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA8532649 rs138344582 |
356 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200528083 CA8532650 |
356 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200528083 CA399297096 |
356 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755347541 CA8532651 |
359 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290427938 rs949724845 |
359 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8532652 rs765589654 |
360 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399297181 rs765589654 |
360 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399297215 rs1285117235 |
362 | S>P | No |
ClinGen TOPMed |
|
|
rs1349704244 CA399297267 |
364 | G>E | No |
ClinGen TOPMed |
|
|
rs376946622 CA8532657 |
366 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779869525 CA8532658 |
367 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA399297345 rs1333695320 |
369 | H>D | No |
ClinGen TOPMed |
|
|
CA8532659 rs370707047 |
370 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1272146520 CA399297385 |
370 | S>R | No |
ClinGen gnomAD |
|
|
CA290427968 rs1055061072 |
371 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 371 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8532660 rs768398418 |
372 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1236855416 CA399297446 |
373 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1597801154 CA399297438 |
373 | P>S | No |
ClinGen Ensembl |
|
|
rs571348195 CA8532662 |
374 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs571348195 CA8532661 |
374 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1390319437 CA399297484 |
375 | T>A | No |
ClinGen gnomAD |
|
|
rs200708532 CA8532665 |
375 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200708532 CA8532664 COSM560489 |
375 | T>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs147310768 CA8532667 |
377 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147310768 CA399297530 |
377 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399297542 rs1459640632 |
377 | K>R | No |
ClinGen TOPMed |
|
|
CA625937666 rs1463567254 |
378 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8532668 rs140920637 |
380 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1333980718 CA399297599 |
380 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8532694 rs761884220 |
381 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399299303 rs761884220 |
381 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290428647 rs889851632 |
382 | E>G | No |
ClinGen TOPMed |
|
|
CA399299399 rs1408810931 |
384 | G>S | No |
ClinGen TOPMed |
|
|
rs767526939 CA8532695 |
386 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA8532697 rs143167128 |
390 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8532698 rs778817399 |
391 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA399299596 rs147486789 |
392 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147486789 CA8532699 |
392 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375047157 CA8532700 |
393 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290428672 rs1021326686 |
394 | A>S | No |
ClinGen gnomAD |
|
|
CA399299664 rs1226563841 |
396 | N>H | No |
ClinGen gnomAD |
|
|
rs549105940 CA8532703 |
397 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs148526353 CA8532705 |
398 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs188330170 CA8532706 |
398 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769000375 CA8532709 |
401 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8532711 rs139432375 |
402 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1281736274 CA399299762 |
402 | F>V | No |
ClinGen TOPMed |
|
|
CA290428720 rs1025898277 |
403 | V>I | No |
ClinGen TOPMed |
|
|
rs1369063181 CA399299780 |
404 | W>* | No |
ClinGen gnomAD |
|
|
rs1369310729 CA399299812 |
408 | T>I | No |
ClinGen TOPMed |
|
|
CA8532712 rs562962022 |
409 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA290428738 rs965509022 |
411 | K>R | No |
ClinGen Ensembl |
|
|
CA8532734 rs775344130 |
412 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs373816766 CA8532735 |
413 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764017032 CA8532736 |
413 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399299903 rs764017032 |
413 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399299902 rs764017032 |
413 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8532737 rs751381330 |
414 | L>Q | No |
ClinGen ExAC |
|
|
CA8532740 rs767312991 |
416 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8532739 rs757073495 |
416 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8532741 rs750028028 |
417 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749828666 CA8532745 |
424 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399299990 rs749828666 |
424 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs949535071 CA290429133 |
424 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs749828666 CA8532744 COSM186257 |
424 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 425 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399300002 rs1597802795 |
426 | T>P | No |
ClinGen Ensembl |
|
|
CA399300012 rs748542443 |
427 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA8532747 rs748542443 |
427 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1354262582 CA399300025 |
428 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs772354583 CA8532748 |
429 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773318576 CA8532749 |
431 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs747238609 CA8532751 |
432 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA290429170 rs1045318279 |
433 | H>D | No |
ClinGen TOPMed |
|
|
CA399300065 rs1319361294 |
433 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 434 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1382856 CA8532752 rs770979719 |
435 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8532753 rs562900538 |
435 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8532754 rs151032154 |
437 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764153976 CA8532755 |
437 | R>H | No |
ClinGen ExAC gnomAD |
|
|
COSM3387842 CA8532757 rs368839197 |
440 | E>K | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8532758 rs146010122 |
441 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399300126 rs146010122 |
441 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1000525268 CA290429271 |
442 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8532759 rs139221372 |
443 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765847238 CA8532761 |
444 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8532760 rs188080925 |
444 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754445327 CA8532763 |
445 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA399300161 rs1472915739 |
446 | A>G | No |
ClinGen gnomAD |
|
|
rs1157755704 CA399300162 |
446 | A>L | No |
ClinGen gnomAD |
No associated diseases with Q14849
Functions
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum-endosome membrane contact site | A contact site between the endoplasmic reticulum membrane and the endosome membrane. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| late endosome membrane | The lipid bilayer surrounding a late endosome. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| organelle membrane contact site | A zone of apposition between the membranes of an organelle with another membrane, either another membrane of the same organelle, a membrane of another organelle, or the plasma membrane. Membrane contact sites (MCSs) are structured by bridging complexes. They are specialized for communication, including the efficient traffic of small molecules such as Ca2+ ions and lipids, as well as enzyme-substrate interactions. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| cholesterol binding | Binding to cholesterol (cholest-5-en-3-beta-ol); the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
| cholesterol transfer activity | Removes cholesterol from a membrane or a monolayer lipid particle, transports it through the aqueous phase while protected in a hydrophobic pocket, and brings it to an acceptor membrane or lipid particle. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cholesterol metabolic process | The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. |
| cholesterol transport | The directed movement of cholesterol, cholest-5-en-3-beta-ol, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
| mitochondrial transport | Transport of substances into, out of or within a mitochondrion. |
| progesterone biosynthetic process | The chemical reactions and pathways resulting in the formation of progesterone, a steroid hormone produced in the ovary which prepares and maintains the uterus for pregnancy. Also found in plants. |
| steroid metabolic process | The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. |
| vesicle tethering to endoplasmic reticulum | The initial, indirect interaction between a transport vesicle membrane and the membrane of the endoplasmic reticulum. This interaction is mediated by tethering factors (or complexes), which interact with both membranes. Interaction can occur via direct binding to membrane phospholipids or membrane proteins, or via binding to vesicle coat proteins. This process is distinct from and prior fusion. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O95772 | STARD3NL | STARD3 N-terminal-like protein | Homo sapiens (Human) | PR |
| Q9DCI3 | Stard3nl | STARD3 N-terminal-like protein | Mus musculus (Mouse) | PR |
| Q61542 | Stard3 | StAR-related lipid transfer protein 3 | Mus musculus (Mouse) | PR |
| O17883 | strl-1 | Steroidogenic acute regulatory-like protein 1 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSKLPRELTR | DLERSLPAVA | SLGSSLSHSQ | SLSSHLLPPP | EKRRAISDVR | RTFCLFVTFD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLFISLLWII | ELNTNTGIRK | NLEQEIIQYN | FKTSFFDIFV | LAFFRFSGLL | LGYAVLRLRH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| WWVIAVTTLV | SSAFLIVKVI | LSELLSKGAF | GYLLPIVSFV | LAWLETWFLD | FKVLPQEAEE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ERWYLAAQVA | VARGPLLFSG | ALSEGQFYSP | PESFAGSDNE | SDEEVAGKKS | FSAQEREYIR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QGKEATAVVD | QILAQEENWK | FEKNNEYGDT | VYTIEVPFHG | KTFILKTFLP | CPAELVYQEV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ILQPERMVLW | NKTVTACQIL | QRVEDNTLIS | YDVSAGAAGG | VVSPRDFVNV | RRIERRRDRY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LSSGIATSHS | AKPPTHKYVR | GENGPGGFIV | LKSASNPRVC | TFVWILNTDL | KGRLPRYLIH |
| 430 | 440 | ||||
| QSLAATMFEF | AFHLRQRISE | LGARA |