Q6ZVM7

SS
Gene name
TOM1L2
Protein name
TOM1-like protein 2
Names
Target of Myb-like protein 2
Species
Homo sapiens (Human)
KEGG Pathway
hsa:146691
EC number
Protein Class

Descriptions

The cytosolic adaptors GGA1-3 mediate sorting of transmembrane proteins. GGA1 contains an autoinhibitory region that is activated by the phosphorylation of a serine positioned three residues upstream of the DXXLL motif. Autoinhibition is achieved by the interaction between DXXLL site and the VHS domain in CGGA1, and the phosphoserine upstream of the DXXLL motif facilitates this interaction.

Autoinhibitory domains (AIDs)

373-380 (Autoinhibitory site in hinge region) SS

Target domain

9-156 (VHS domain)

Relief mechanism

PTM

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q6ZVM7

Entry ID Method Resolution Chain Position Source
AF-Q6ZVM7-F1 Predicted AlphaFoldDB

523 variants for Q6ZVM7

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1322613096 5 L>M No gnomAD
rs1388214807 7 N>S No gnomAD
rs994462976 8 P>L No gnomAD
rs994462976 8 P>R No gnomAD
rs2145137730 9 F>S No Ensembl
rs2042142733 13 V>L No TOPMed
rs1369344607 15 Q>H No gnomAD
rs779175296 17 L>F No ExAC
TOPMed
gnomAD
COSM1135887
COSM472375
 18 E>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1179016582 20 A>T No gnomAD
rs761266752 22 D>G No ExAC
gnomAD
rs1568234298 22 D>N No Ensembl
rs1207870258 24 S>F No gnomAD
rs145420007 24 S>P No ESP
ExAC
TOPMed
gnomAD
rs1331636916 26 Q>K No TOPMed
rs2039151839 28 E>G No Ensembl
rs2039151688 29 D>N No TOPMed
COSM1588638
COSM976152
 31 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs772748379 31 T>M No ExAC
TOPMed
gnomAD
rs1377776005 31 T>S No TOPMed
gnomAD
rs1809263007 32 L>V No TOPMed
rs528653796 33 N>I No TOPMed
gnomAD
rs528653796 33 N>T No TOPMed
gnomAD
rs771961539 34 M>T No ExAC
gnomAD
rs759595245 35 E>Q No ExAC
TOPMed
gnomAD
rs2039150055 36 I>T No gnomAD
rs2039149760 37 C>G No Ensembl
rs774380990
COSM3362009
COSM3362008
 39 I>T kidney [Cosmic] No cosmic curated
ExAC
gnomAD
rs2039149609 39 I>V No TOPMed
rs867591849 41 N>S No gnomAD
COSM5645161
COSM5645160
rs771164302
 43 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs386352375
CA232177
RCV000122484
 48 K>N No ClinGen
ClinVar
Ensembl
dbSNP
rs1389567152 51 I>V No TOPMed
rs139022042 52 R>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1720743
rs867644339
COSM1720744
 53 A>V NS [Cosmic] No cosmic curated
Ensembl
rs1443147537 54 L>P No TOPMed
gnomAD
COSM4917167
COSM4917166
 55 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1277991354 56 K>T No gnomAD
rs547421443 57 R>Q No ExAC
TOPMed
gnomAD
rs867464276 57 R>W No TOPMed
gnomAD
rs1339111033 58 L>F No TOPMed
gnomAD
rs769042756 59 N>S No ExAC
TOPMed
gnomAD
rs748480864 60 G>R No ExAC
TOPMed
gnomAD
rs759002706 62 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1348950356
COSM5149209
 62 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
COSM389901
rs746357732
 64 Y>C lung [Cosmic] No cosmic curated
ExAC
gnomAD
rs777391955 65 R>T No ExAC
TOPMed
gnomAD
rs2038693295 66 E>G No Ensembl
rs2038692855 68 M>I No TOPMed
rs2144293430 68 M>V No Ensembl
TCGA novel 70 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1388952005 72 T>I No gnomAD
rs375848127 73 V>M No ESP
ExAC
TOPMed
gnomAD
rs2144223464 79 K>* No Ensembl
rs2144223408 82 G>V No Ensembl
rs775641202 83 H>Q No ExAC
TOPMed
gnomAD
rs371535609 83 H>Y No ESP
ExAC
TOPMed
gnomAD
rs772516795 84 R>C No ExAC
TOPMed
gnomAD
rs759751295 84 R>H No ExAC
gnomAD
rs771396440 87 I>F No ExAC
TOPMed
gnomAD
rs771396440 87 I>V No ExAC
TOPMed
gnomAD
rs749804679 89 V>A No ExAC
TOPMed
gnomAD
rs1002369021 91 N>S No TOPMed
rs905363686 92 R>Q No TOPMed
gnomAD
rs1245254871 93 D>Y No TOPMed
gnomAD
rs2038413623 94 F>V No Ensembl
rs746685451 95 I>M No ExAC
gnomAD
rs768263789 95 I>V No ExAC
gnomAD
rs1427544991 96 D>G No gnomAD
rs779535298 96 D>N No ExAC
TOPMed
gnomAD
rs2038412564 97 S>R No TOPMed
rs2038412306 99 L>V No Ensembl
rs1191923763 100 V>A No TOPMed
gnomAD
rs1267197992 102 I>T No gnomAD
rs758219410 102 I>V No ExAC
TOPMed
gnomAD
rs750130496 103 I>L No ExAC
TOPMed
gnomAD
rs778757730 103 I>M No ExAC
gnomAD
rs1598282423 103 I>T No Ensembl
rs750130496 103 I>V No ExAC
TOPMed
gnomAD
rs375361037 104 S>F No ESP
ExAC
TOPMed
gnomAD
rs2038409724 105 P>L No Ensembl
rs1201854247 107 N>H No gnomAD
rs1247326711 107 N>S No gnomAD
rs930406175 108 N>D No TOPMed
gnomAD
rs753745234 108 N>K No ExAC
TOPMed
gnomAD
rs764180348 109 P>H No ExAC
gnomAD
rs1265849696 110 P>L No TOPMed
gnomAD
rs760704865 110 P>S No ExAC
gnomAD
rs767575657 112 I>V No ExAC
gnomAD
rs1464114114 113 V>A No TOPMed
gnomAD
rs1568189086 114 Q>E No Ensembl
rs759787784 115 D>E No ExAC
TOPMed
gnomAD
rs2038407532 115 D>Y No TOPMed
rs774642358 116 K>E No ExAC
TOPMed
gnomAD
rs771387359 116 K>R No ExAC
TOPMed
gnomAD
rs771387359 116 K>T No ExAC
TOPMed
gnomAD
rs2144220874 122 Q>* No Ensembl
TCGA novel 122 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs755576657 127 A>D No ExAC
TOPMed
gnomAD
rs755576657 127 A>G No ExAC
TOPMed
gnomAD
rs779521366 127 A>T No ExAC
TOPMed
gnomAD
rs763374689 128 F>L No ExAC
TOPMed
gnomAD
rs773862235
COSM976148
COSM1588639
 129 R>* Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1003640600
COSM1588640
COSM976147
 129 R>Q Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
rs1464712946 130 S>R No TOPMed
rs774932395 132 P>A No ExAC
gnomAD
rs2037906298 133 D>A No TOPMed
gnomAD
rs745557175 134 L>F No ExAC
gnomAD
rs2037905815 135 T>A No gnomAD
rs903590011 135 T>S No Ensembl
rs1568164106 136 G>S No TOPMed
gnomAD
COSM1658928
COSM1658929
rs200120270
 137 V>I salivary_gland Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777529542 138 V>A No ExAC
TOPMed
gnomAD
rs1322878085 139 H>R No gnomAD
rs1188970007 139 H>Y No TOPMed
rs151155378 140 I>L No ESP
ExAC
TOPMed
rs376386507 140 I>M No Ensembl
rs151155378 140 I>V No ESP
ExAC
TOPMed
TCGA novel 140 I>Y Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2037903976 141 Y>H No gnomAD
rs1436067803 142 E>K No gnomAD
rs931615840 145 K>E No Ensembl
rs748084321 148 G>R No ExAC
gnomAD
rs143220830 149 V>A No ESP
ExAC
TOPMed
gnomAD
COSM285864 150 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs751763566 150 E>K No ExAC
TOPMed
gnomAD
rs368309703 151 F>I No ESP
ExAC
gnomAD
rs2037902157 152 P>S No TOPMed
rs1012287828 153 M>V No 1000Genomes
TOPMed
rs374413505 154 A>V No ESP
ExAC
TOPMed
gnomAD
rs765694471 155 D>Y No ExAC
TOPMed
gnomAD
rs1211442725 156 L>S No TOPMed
gnomAD
rs139869743 157 D>E No ESP
ExAC
TOPMed
gnomAD
rs1488653951 157 D>N No gnomAD
rs983267767 158 A>T No gnomAD
rs766958630 159 L>M No ExAC
gnomAD
COSM4064420
COSM4064419
 160 S>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1326103673 160 S>F No gnomAD
rs2037899434 162 I>M No Ensembl
rs1316428930 162 I>R No gnomAD
rs774005970 163 H>Y No ExAC
TOPMed
gnomAD
rs1489894555 164 T>S No gnomAD
rs770625527 165 P>A No ExAC
TOPMed
gnomAD
rs2144091084 165 P>L No 1000Genomes
rs770625527 165 P>S No ExAC
TOPMed
gnomAD
rs773028858 167 R>P No ExAC
TOPMed
gnomAD
rs773028858 167 R>Q No ExAC
TOPMed
gnomAD
rs1027041802 167 R>W No gnomAD
rs1278376881 170 P>A No gnomAD
rs772799062 172 V>G No ExAC
TOPMed
gnomAD
TCGA novel
rs762640105
 172 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
NCI-TCGA
rs762640105 172 V>M No ExAC
TOPMed
gnomAD
rs1164955701 173 D>A No TOPMed
gnomAD
rs2037801047 173 D>E No Ensembl
rs142581994 173 D>N No ESP
TOPMed
gnomAD
rs769503926 174 P>L No ExAC
gnomAD
rs148462085 174 P>S No ESP
rs770869564 175 A>S No ExAC
TOPMed
gnomAD
rs776451196 176 A>V No ExAC
TOPMed
gnomAD
rs2037799579 177 T>I No Ensembl
rs1305956046 178 M>I No TOPMed
gnomAD
rs2037798971 178 M>T No gnomAD
rs2144061715 178 M>V No Ensembl
rs746942840 179 P>S No ExAC
gnomAD
COSM1381253
COSM1381254
rs1270944554
 180 R>G Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs2037798182 180 R>T No Ensembl
rs144591677 181 S>F No ESP
ExAC
TOPMed
gnomAD
rs2037797367 184 Q>K No TOPMed
rs779157435 185 Q>H No ExAC
gnomAD
rs1352648192 186 R>G No gnomAD
rs1352648192 186 R>W No gnomAD
rs200715176 188 S>N No Ensembl
rs149335483 189 A>T No ESP
ExAC
TOPMed
gnomAD
rs1038317699 190 G>S No Ensembl
rs2037796088 192 Y>C No TOPMed
gnomAD
rs2037795937 193 S>Y No TOPMed
rs199563013 194 S>L No ExAC
TOPMed
gnomAD
rs1442094533 194 S>T No gnomAD
rs756682926 195 P>A No ExAC
TOPMed
gnomAD
rs138147144 195 P>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762405956 196 P>L No ExAC
gnomAD
rs370279147 197 P>L No ESP
ExAC
TOPMed
gnomAD
rs2037794548 197 P>S No Ensembl
rs764890724 198 A>S No ExAC
gnomAD
rs2037794070 198 A>V No gnomAD
rs1382920456 199 P>R No TOPMed
gnomAD
rs776559462 200 Y>C No ExAC
gnomAD
rs1239092795 200 Y>H No gnomAD
rs1356221251 201 S>A No TOPMed
gnomAD
rs1461782638 201 S>F No gnomAD
rs775520074 202 A>S No ExAC
TOPMed
gnomAD
rs775520074 202 A>T No ExAC
TOPMed
gnomAD
rs2037792113 202 A>V No Ensembl
rs745885112 203 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs745885112 203 P>Q No ExAC
TOPMed
gnomAD
rs745885112 203 P>R No ExAC
TOPMed
gnomAD
rs866923102 205 A>V No Ensembl
rs139158330 206 P>L No ESP
ExAC
TOPMed
gnomAD
rs139158330 206 P>R No ESP
ExAC
TOPMed
gnomAD
rs929538302
COSM1664628
COSM1664629
 206 P>S kidney [Cosmic] No cosmic curated
TOPMed
gnomAD
rs756419453 207 A>P No ExAC
TOPMed
gnomAD
rs756419453 207 A>S No ExAC
TOPMed
gnomAD
rs2037789131 209 S>C No TOPMed
rs748681398 210 V>A No ExAC
TOPMed
gnomAD
rs142515051 213 P>L No ESP
ExAC
TOPMed
gnomAD
rs146710625 213 P>S No ESP
ExAC
TOPMed
gnomAD
rs146710625 213 P>T No ESP
ExAC
TOPMed
gnomAD
rs77916160 214 I>N No gnomAD
rs77916160 214 I>T No gnomAD
rs756977667 214 I>V No ExAC
gnomAD
rs1163706261 215 T>P No gnomAD
rs753411232 217 N>S No ExAC
TOPMed
gnomAD
rs763971752 218 S>* No ExAC
gnomAD
rs760507746 219 E>Q No ExAC
gnomAD
rs941795814 219 E>V No gnomAD
rs1205255326 220 Q>R No TOPMed
rs1294492433 221 I>M No gnomAD
rs1028789047 221 I>T No Ensembl
rs753560204 222 A>S No ExAC
gnomAD
rs753560204 222 A>T No ExAC
gnomAD
rs763773589 222 A>V No ExAC
gnomAD
rs767388904 225 R>Q No ExAC
TOPMed
gnomAD
rs752605260 225 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs2037615138 226 S>N No TOPMed
rs1431708325 228 L>V No gnomAD
TCGA novel 229 D>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs369984263 230 V>I No ESP
ExAC
TOPMed
gnomAD
rs773493334 231 V>I No ExAC
TOPMed
gnomAD
rs143816562 232 R>* No ESP
ExAC
gnomAD
rs1480281935 232 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs762021018 234 N>S No ExAC
gnomAD
rs777024931 236 K>E No ExAC
TOPMed
gnomAD
rs768989668 237 V>F No ExAC
TOPMed
gnomAD
rs1202059213 238 M>I No gnomAD
rs1326829489 238 M>V No gnomAD
rs2037612872 239 S>P No gnomAD
rs552793390 239 S>Y No 1000Genomes
ExAC
gnomAD
rs1411562529 240 E>K No gnomAD
COSM3932497
COSM3932496
 240 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1329504819 241 M>I No TOPMed
rs1263321281 241 M>L No gnomAD
rs1321064158 243 T>A No TOPMed
gnomAD
rs770481247 243 T>I No ExAC
TOPMed
gnomAD
rs765936175 244 E>G No ExAC
TOPMed
gnomAD
rs1391882632 244 E>K No TOPMed
gnomAD
rs1391882632 244 E>Q No TOPMed
gnomAD
rs752374687 248 G>A No ExAC
TOPMed
gnomAD
rs752374687 248 G>E No ExAC
TOPMed
gnomAD
rs755869161 248 G>R No ExAC
TOPMed
gnomAD
rs752374687 248 G>V No ExAC
TOPMed
gnomAD
rs1175431247 249 Q>* No TOPMed
gnomAD
rs2037610345 249 Q>H No TOPMed
rs1468445668 250 E>K No gnomAD
rs926275423 251 D>Y No Ensembl
rs1177338439 252 S>* No gnomAD
rs2037609870 252 S>P No TOPMed
rs781156044 253 S>P No ExAC
gnomAD
rs1162063872 256 E>D No gnomAD
rs1192505143 257 L>S No TOPMed
rs766168764 258 L>V No ExAC
TOPMed
gnomAD
rs2037039836 260 E>G No TOPMed
rs1297928954 261 L>I No gnomAD
rs1568112760 262 N>K No TOPMed
gnomAD
rs764167124 262 N>S No ExAC
gnomAD
rs760939410 263 R>K No ExAC
gnomAD
rs1598221611 264 T>P No Ensembl
rs1365705483 265 C>G No gnomAD
rs767900512 266 R>Q No ExAC
TOPMed
gnomAD
rs775756759 266 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs759982924 267 A>V No ExAC
TOPMed
gnomAD
rs2046762602 269 Q>* No TOPMed
rs769430448 270 Q>E No ExAC
gnomAD
rs769430448 270 Q>K No ExAC
gnomAD
rs2037037030 270 Q>P No TOPMed
COSM3818954
COSM3818953
 271 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2143841974 271 R>S No Ensembl
rs1357291759 272 I>M No gnomAD
rs747599352 273 V>M No ExAC
TOPMed
gnomAD
rs1206594445 274 E>V No TOPMed
gnomAD
rs1053760343 275 L>F No TOPMed
gnomAD
rs2037035322 276 I>L No TOPMed
rs768256975 276 I>M No ExAC
TOPMed
gnomAD
rs1598221339 277 S>P No Ensembl
rs2037034797 277 S>Y No TOPMed
rs578191280 278 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs578191280 278 R>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs1303005080
COSM1230064
COSM1230063
 278 R>H large_intestine [Cosmic] No cosmic curated
gnomAD
rs779766547 279 V>M No ExAC
TOPMed
gnomAD
rs1568111972 281 N>H No gnomAD
rs537305430 281 N>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1370940561 282 E>* No gnomAD
rs1201339578 282 E>G No gnomAD
rs1480610218 283 E>* No TOPMed
gnomAD
rs2037032322 284 V>D No TOPMed
gnomAD
rs199832973 285 T>A No 1000Genomes
ExAC
gnomAD
rs764201570 286 E>K No ExAC
TOPMed
gnomAD
rs371612900 287 E>D No ESP
ExAC
TOPMed
gnomAD
rs752915063 290 H>R No ExAC
gnomAD
rs1225740489 291 V>M No gnomAD
rs2037029927 293 D>H No Ensembl
rs2037029927 293 D>N No Ensembl
rs2037029544 294 D>N No Ensembl
TCGA novel 294 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs536434387 296 N>K No 1000Genomes
ExAC
TOPMed
gnomAD
COSM4064418
COSM4064417
rs1034038096
 298 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs2037028553 299 F>L No TOPMed
gnomAD
rs746666657 300 L>F No ExAC
gnomAD
rs745605701 301 R>L No ExAC
TOPMed
gnomAD
rs745605701 301 R>P No ExAC
TOPMed
gnomAD
rs745605701 301 R>Q No ExAC
TOPMed
gnomAD
rs145438922 302 Y>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1026905220 302 Y>* No TOPMed
TCGA novel 302 Y>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs778667027 302 Y>H No ExAC
gnomAD
rs1364271756 303 E>D No gnomAD
rs547369838 303 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs547369838 303 E>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs2036879817 305 F>I No gnomAD
TCGA novel 305 F>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs759206629 306 E>K No ExAC
TOPMed
gnomAD
rs372470867 307 R>* No ESP
TOPMed
gnomAD
rs770717113 307 R>L No ExAC
TOPMed
gnomAD
rs770717113 307 R>Q No ExAC
TOPMed
gnomAD
rs2036878554 308 Y>S No Ensembl
rs762750960 309 R>G No ExAC
TOPMed
gnomAD
rs1315595947 309 R>K No TOPMed
gnomAD
rs1315595947 309 R>M No TOPMed
gnomAD
rs930707964 309 R>S No TOPMed
gnomAD
rs769833356 312 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs748001425 312 R>Q No ExAC
TOPMed
gnomAD
rs2036876293 313 S>C No TOPMed
TCGA novel 313 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1287368983 313 S>P No TOPMed
gnomAD
rs768809501 314 V>F No ExAC
TOPMed
gnomAD
rs768809501 314 V>I No ExAC
TOPMed
gnomAD
rs1362445170 315 Q>H No TOPMed
gnomAD
rs747269852 317 A>G No ExAC
gnomAD
TCGA novel 317 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs899598049 318 S>G No TOPMed
TCGA novel 318 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1303614072 319 N>D No gnomAD
rs2143800995 320 G>A No Ensembl
rs747032744 323 N>D No ExAC
gnomAD
rs775698263 323 N>I No ExAC
gnomAD
rs746047482 323 N>K No ExAC
gnomAD
rs2036852315 326 T>S No gnomAD
rs757520450 327 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs757520450 327 E>Q No ExAC
gnomAD
rs576894860 328 D>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs2036851561 329 N>S No TOPMed
TCGA novel 334 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1192074612 336 G>V No TOPMed
rs1471172897 337 S>Y No TOPMed
rs369187930 339 A>S No ESP
ExAC
TOPMed
gnomAD
rs751132404 340 V>M No ExAC
TOPMed
gnomAD
rs1310393787 342 S>I No gnomAD
rs758116852 344 M>V No ExAC
TOPMed
gnomAD
rs749992298 346 G>R No ExAC
gnomAD
rs146446650 347 N>D No ESP
ExAC
TOPMed
gnomAD
rs761451871 348 T>I No ExAC
TOPMed
gnomAD
rs375083600 349 A>V No ESP
ExAC
TOPMed
gnomAD
rs2036848014 350 P>L No gnomAD
rs775753326 351 P>S No ExAC
gnomAD
COSM3514814
rs978993333
COSM3514813
 353 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs2036847066 354 L>P No Ensembl
rs1161907104 355 S>F No gnomAD
rs1357929540 355 S>P No gnomAD
rs772024120 358 L>P No ExAC
gnomAD
rs1176443207 360 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1176443207 360 G>V No gnomAD
rs1598213131 361 L>I No TOPMed
rs1598213131 361 L>V No TOPMed
rs763953806 364 G>E No ExAC
gnomAD
rs753756874 364 G>R No ExAC
gnomAD
rs752635967 366 E>D No ExAC
gnomAD
rs760746771 366 E>K No ExAC
TOPMed
gnomAD
rs144061121 367 S>N No ESP
ExAC
TOPMed
gnomAD
rs144061121 367 S>T No ESP
ExAC
TOPMed
gnomAD
rs2036633405 368 V>A No gnomAD
rs774472699 368 V>F No ExAC
TOPMed
gnomAD
rs774472699 368 V>I No ExAC
TOPMed
gnomAD
rs774472699 368 V>L No ExAC
TOPMed
gnomAD
rs763131283 369 S>N No ExAC
TOPMed
gnomAD
rs763131283 369 S>T No ExAC
TOPMed
gnomAD
rs2036632886 370 G>D No TOPMed
rs773614320 371 T>N No ExAC
TOPMed
gnomAD
COSM1588643
COSM976144
 374 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2036632407 376 Q>K No TOPMed
rs2036632242 377 Q>E No TOPMed
rs139141212 378 C>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs897638691 381 R>C No TOPMed
gnomAD
COSM976143
rs375549455
COSM1153033
 381 R>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs375549455 381 R>L No ESP
ExAC
TOPMed
gnomAD
rs757014791 382 D>G No ExAC
gnomAD
rs1050660895 383 G>A No TOPMed
gnomAD
rs1232150695 383 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
COSM976142
COSM1588644
 385 D>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1477334598 386 M>T No gnomAD
rs1267623734 386 M>V No TOPMed
gnomAD
rs1261020499 388 A>D No gnomAD
rs563051881 390 T>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs563051881 390 T>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs2036628576 394 S>Y No gnomAD
rs2036628405 395 L>F No TOPMed
gnomAD
rs1486206873 397 E>G No TOPMed
COSM4064413
COSM4064414
rs763182884
 399 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs770151031
COSM3514811
COSM3514812
 399 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs770151031 399 R>L No ExAC
TOPMed
gnomAD
rs1489425999 400 K>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs574247504 400 K>M No 1000Genomes
ExAC
gnomAD
rs574247504 400 K>R No 1000Genomes
ExAC
gnomAD
COSM4064412
COSM4064411
 401 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs769111096 401 T>M No ExAC
TOPMed
gnomAD
rs867950133 404 Y>C No TOPMed
gnomAD
rs867950133 404 Y>F No TOPMed
gnomAD
rs1338194353 404 Y>H No TOPMed
gnomAD
rs1323137249 406 D>G No TOPMed
gnomAD
rs1261447179 407 P>S No TOPMed
gnomAD
rs1261447179 407 P>T No TOPMed
gnomAD
rs761112529 408 Q>H No ExAC
gnomAD
rs748862321 411 G>R No ExAC
TOPMed
gnomAD
rs1029007401 412 G>R No TOPMed
rs772840957 416 A>V No ExAC
gnomAD
rs2036558433 418 D>E No TOPMed
rs2036558262 419 N>D No gnomAD
rs974715100 419 N>S No TOPMed
gnomAD
rs1385530930 420 R>* No TOPMed
gnomAD
COSM316072
COSM1588645
rs769606765
 420 R>Q lung Variant assessed as Somatic; MODERATE impact. endometrium [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747813834 422 Q>R No ExAC
gnomAD
rs1185640622 425 E>V No TOPMed
gnomAD
rs958547512 426 G>A No TOPMed
gnomAD
rs2035939554 427 I>L No Ensembl
rs756282247 427 I>N No ExAC
gnomAD
COSM4064407
COSM4064408
rs150784633
 429 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1302469
COSM1302468
rs1209314216
 430 A>V Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs2035938135 431 Q>* No TOPMed
rs775992105 432 P>S No ExAC
TOPMed
gnomAD
rs775992105 432 P>T No ExAC
TOPMed
gnomAD
rs972472710 435 M>L No TOPMed
gnomAD
rs972472710 435 M>V No TOPMed
gnomAD
rs775314255 437 D>N No ExAC
TOPMed
gnomAD
rs1568045038 438 I>T No Ensembl
rs1268895163 438 I>V No TOPMed
gnomAD
rs1381767405 440 V>M No gnomAD
rs771808887 441 W>C No ExAC
gnomAD
rs1568044943 441 W>S No Ensembl
rs372626043 442 L>F No ESP
ExAC
gnomAD
TCGA novel 442 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs770932579 445 D>H No ExAC
TOPMed
gnomAD
rs770932579 445 D>N No ExAC
TOPMed
gnomAD
rs1214475621 448 G>C No gnomAD
rs1224315397 449 D>G No TOPMed
rs1489596178 449 D>Y No gnomAD
rs747446015 452 E>K No ExAC
gnomAD
rs2035802411 453 E>D No gnomAD
rs1320275314 453 E>K No TOPMed
gnomAD
rs1280705025 454 G>R No TOPMed
gnomAD
rs1280705025 454 G>S No TOPMed
gnomAD
rs1219751199 454 G>V No TOPMed
gnomAD
rs926879365 456 T>K No TOPMed
gnomAD
rs2035801112 457 S>T No TOPMed
rs200566614 458 E>D No TOPMed
gnomAD
rs1174232191 461 D>H No TOPMed
gnomAD
rs1467689959 462 K>R No gnomAD
rs1467689959 462 K>T No gnomAD
rs1378246708 465 E>D No gnomAD
TCGA novel 467 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1198204191 467 R>K No gnomAD
rs1354242684 468 A>G No TOPMed
gnomAD
rs766989418 469 K>E No ExAC
TOPMed
gnomAD
rs200243623 471 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs908488984 474 V>A No TOPMed
rs908488984 474 V>D No TOPMed
rs751129069 475 P>A No ExAC
gnomAD
rs766199692 475 P>R No ExAC
gnomAD
rs1598162302 476 D>A No Ensembl
rs761812249 476 D>E No ExAC
gnomAD
rs761903481 476 D>N No ExAC
TOPMed
gnomAD
rs2035727447 477 L>F No TOPMed
gnomAD
rs768807403 478 P>L No ExAC
TOPMed
gnomAD
rs768807403 478 P>R No ExAC
TOPMed
gnomAD
rs1230358121 478 P>S No gnomAD
rs370628988 479 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
NCI-TCGA
TOPMed
gnomAD
rs1442039712 480 P>S No TOPMed
rs2143428660 481 P>A No Ensembl
rs746278350 481 P>L No ExAC
TOPMed
gnomAD
rs780707839 482 M>I No ExAC
TOPMed
gnomAD
rs1568033566 482 M>L No Ensembl
rs749744673 482 M>R No ExAC
gnomAD
rs749744673 482 M>T No ExAC
gnomAD
rs1382475008 483 E>K No gnomAD
rs2035723883 484 A>D No Ensembl
rs1439525637 484 A>S No TOPMed
gnomAD
rs1231557027 485 P>S No gnomAD
rs1443507502 486 A>P No TOPMed
gnomAD
rs202079010 487 P>T No ExAC
TOPMed
gnomAD
rs750224529 488 A>T No ExAC
TOPMed
gnomAD
rs2143427256 488 A>V No Ensembl
rs765104318 492 S>F No ExAC
gnomAD
rs2035721993 493 G>A No TOPMed
gnomAD
rs761867100 493 G>S No ExAC
gnomAD
rs2035721993 493 G>V No TOPMed
gnomAD
rs371456416 494 R>L No ESP
ExAC
TOPMed
gnomAD
rs371456416 494 R>Q No ESP
ExAC
TOPMed
gnomAD
COSM1679614
COSM1679613
rs539750130
 494 R>W large_intestine [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs775631393 495 K>N No ExAC
TOPMed
gnomAD
rs2035721277 495 K>Q No gnomAD
TCGA novel 497 P>Q Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1022295863 498 E>G No Ensembl
rs1332115184 499 R>P No TOPMed
gnomAD
COSM1381250
rs1332115184
COSM1381251
 499 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs772252818 499 R>W No ExAC
TOPMed
gnomAD
rs774716816 501 E>A No ExAC
gnomAD
rs1419348668 501 E>D No TOPMed
gnomAD
rs2035719286 502 D>V No TOPMed
rs1332145908 503 A>V No TOPMed
gnomAD
rs2035718540 504 L>F No TOPMed
rs778194590 505 F>V No ExAC
gnomAD
rs746566696 506 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1263313471 506 A>V No gnomAD
rs886209868 507 L>P No gnomAD
rs886209868 507 L>R No gnomAD
rs200990292 507 L>V No ExAC
TOPMed
gnomAD

No associated diseases with Q6ZVM7

3 regional properties for Q6ZVM7

Type Name Position InterPro Accession
domain Ubiquitin-like domain 13 - 90 IPR000626
domain Rad60/SUMO-like domain 15 - 84 IPR022617
domain Small ubiquitin-related modifier 1, Ubl domain 14 - 89 IPR046332

Functions

Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
endosome A vacuole to which materials ingested by endocytosis are delivered.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.

4 GO annotations of molecular function

Name Definition
clathrin binding Binding to a clathrin heavy or light chain, the main components of the coat of coated vesicles and coated pits, and which also occurs in synaptic vesicles.
phosphatidylinositol binding Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
ubiquitin binding Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation.

3 GO annotations of biological process

Name Definition
negative regulation of mitotic nuclear division Any process that stops, prevents or reduces the rate or extent of mitosis. Mitosis is the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother.
protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9NZ52 GGA3 ADP-ribosylation factor-binding protein GGA3 Homo sapiens (Human) EV
O75674 TOM1L1 TOM1-like protein 1 Homo sapiens (Human) SS
Q8BMI3 Gga3 ADP-ribosylation factor-binding protein GGA3 Mus musculus (Mouse) SS
O88746 Tom1 Target of Myb1 membrane trafficking protein Mus musculus (Mouse) PR
10 20 30 40 50 60
MEFLLGNPFS TPVGQCLEKA TDGSLQSEDW TLNMEICDII NETEEGPKDA IRALKKRLNG
70 80 90 100 110 120
NRNYREVMLA LTVLETCVKN CGHRFHILVA NRDFIDSVLV KIISPKNNPP TIVQDKVLAL
130 140 150 160 170 180
IQAWADAFRS SPDLTGVVHI YEELKRKGVE FPMADLDALS PIHTPQRSVP EVDPAATMPR
190 200 210 220 230 240
SQSQQRTSAG SYSSPPPAPY SAPQAPALSV TGPITANSEQ IARLRSELDV VRGNTKVMSE
250 260 270 280 290 300
MLTEMVPGQE DSSDLELLQE LNRTCRAMQQ RIVELISRVS NEEVTEELLH VNDDLNNVFL
310 320 330 340 350 360
RYERFERYRS GRSVQNASNG VLNEVTEDNL IDLGPGSPAV VSPMVGNTAP PSSLSSQLAG
370 380 390 400 410 420
LDLGTESVSG TLSSLQQCNP RDGFDMFAQT RGNSLAEQRK TVTYEDPQAV GGLASALDNR
430 440 450 460 470 480
KQSSEGIPVA QPSVMDDIEV WLRTDLKGDD LEEGVTSEEF DKFLEERAKA AEMVPDLPSP
490 500
PMEAPAPASN PSGRKKPERS EDALFAL