O75674

SS
Gene name
TOM1L1 (SRCASM)
Protein name
TOM1-like protein 1
Names
Src-activating and signaling molecule protein , Target of Myb-like protein 1
Species
Homo sapiens (Human)
KEGG Pathway
hsa:10040
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)

335-342 (Autoinhibitory site in hinge region) SS

Target domain

11-154 (VHS domain)

Relief mechanism

PTM

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

2 structures for O75674

Entry ID Method Resolution Chain Position Source
3RRU X-ray 300 A A/B 9-150 PDB
AF-O75674-F1 Predicted AlphaFoldDB

504 variants for O75674

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 2 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs371309084 4 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs147666479 5 K>R No ESP
ExAC
TOPMed
gnomAD
rs2048312693 6 S>G No TOPMed
rs79320845 7 H>Y No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1339521564 8 R>Q No gnomAD
rs559411583 8 R>W No 1000Genomes
ExAC
TOPMed
gnomAD
rs2048312865 9 D>H No TOPMed
rs1219579940 10 P>A No gnomAD
rs1219579940 10 P>S No gnomAD
COSM706797
rs1198548608
 11 Y>* Variant assessed as Somatic; HIGH impact. lung [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
rs759634869 11 Y>C No ExAC
gnomAD
rs774330571 11 Y>H No ExAC
TOPMed
gnomAD
rs2048313077 12 A>T No TOPMed
gnomAD
rs1257159810 13 T>I No gnomAD
rs760817454 17 H>P No ExAC
TOPMed
gnomAD
rs760817454 17 H>R No ExAC
TOPMed
gnomAD
rs764454143 18 L>F No ExAC
TOPMed
gnomAD
rs764454143 18 L>V No ExAC
TOPMed
gnomAD
rs2048313471 19 I>M No TOPMed
rs1425461438 19 I>V No gnomAD
rs1169854023 20 E>K No gnomAD
rs1567817735 23 T>A No Ensembl
rs753638547 24 F>L No ExAC
gnomAD
rs1229080188 24 F>Y No TOPMed
gnomAD
rs757074106 26 G>A No ExAC
TOPMed
gnomAD
rs1219111154 27 V>I No gnomAD
rs2048364214 28 Q>* No Ensembl
rs552433032 28 Q>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs1458173297 29 T>I No gnomAD
rs1567817783 30 E>K No Ensembl
TCGA novel 31 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2048364461 31 D>Y No TOPMed
rs745833602 32 W>* No ExAC
TOPMed
gnomAD
rs2048364600 34 Q>H No TOPMed
rs2048364773 36 M>I No Ensembl
rs1567817797 36 M>L No Ensembl
rs1409108427 36 M>R No TOPMed
rs1567817797 36 M>V No Ensembl
rs1415600549 38 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1356051739 39 C>G No TOPMed
rs747060155 41 I>T No ExAC
TOPMed
gnomAD
rs780140517 41 I>V No ExAC
TOPMed
gnomAD
rs1597996642 43 N>H No Ensembl
rs1358746001 44 T>P No TOPMed
gnomAD
rs1467615278 45 T>I No gnomAD
rs1467615278 45 T>N No gnomAD
rs1467615278 45 T>S No gnomAD
rs1329972515 46 Q>L No TOPMed
gnomAD
rs776906245 47 D>G No ExAC
TOPMed
gnomAD
rs1555606644 47 D>Y No Ensembl
rs761872919 48 G>R No ExAC
gnomAD
rs758373066 49 P>L No ExAC
gnomAD
rs1279139551 50 K>E No gnomAD
rs779953187 51 D>N No ExAC
gnomAD
rs938714075 52 A>S No TOPMed
rs2048394820 52 A>V No gnomAD
TCGA novel 53 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs747158135 55 A>V No ExAC
TOPMed
gnomAD
rs896696737 59 R>K No TOPMed
rs896696737 59 R>M No TOPMed
rs527597267 59 R>S No 1000Genomes
rs1567818589 60 I>T No Ensembl
rs1338683590 61 S>C No gnomAD
rs1276153895 61 S>P No gnomAD
rs1338683590 61 S>Y No gnomAD
rs2143730747 62 K>R No Ensembl
rs768725919 63 N>D No ExAC
TOPMed
gnomAD
rs1280167390 63 N>I No gnomAD
rs748421557 64 Y>C No ExAC
TOPMed
gnomAD
rs148960305 64 Y>D No ESP
ExAC
TOPMed
gnomAD
rs1263536977 65 N>S No gnomAD
rs2048395361 66 H>N No TOPMed
rs1489436216 66 H>R No gnomAD
rs2048395480 68 E>G No TOPMed
rs773662613 69 I>M No ExAC
TOPMed
gnomAD
rs1283394632 70 Q>R No gnomAD
rs1316703025 72 T>A No TOPMed
gnomAD
rs763383061 72 T>I No ExAC
gnomAD
rs763383061 72 T>S No ExAC
gnomAD
TCGA novel 73 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs749741346 75 L>F No ExAC
TOPMed
gnomAD
rs749741346 75 L>I No ExAC
TOPMed
gnomAD
rs749741346 75 L>V No ExAC
TOPMed
gnomAD
rs1212010996 76 I>T No gnomAD
rs2048515569 76 I>V No Ensembl
rs1227738060 77 D>E No TOPMed
gnomAD
TCGA novel 77 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs774802199 78 M>I No ExAC
TOPMed
gnomAD
rs1328126506 78 M>V No TOPMed
gnomAD
rs746401626 79 C>F No ExAC
TOPMed
gnomAD
rs746401626 79 C>Y No ExAC
TOPMed
gnomAD
TCGA novel 80 V>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM3691696
rs568678217
 81 Q>* Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
NCI-TCGA
TOPMed
gnomAD
rs568678217 81 Q>E No 1000Genomes
TOPMed
gnomAD
rs761208459 82 N>K No ExAC
gnomAD
rs1181356194 83 C>R No TOPMed
gnomAD
rs1181356194 83 C>S No TOPMed
gnomAD
rs1369273712 84 G>R No gnomAD
rs764999500 84 G>V No ExAC
gnomAD
rs912226703 85 P>A No TOPMed
rs1412033970 86 S>R No TOPMed
gnomAD
TCGA novel 89 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2048516375 91 I>T No TOPMed
rs1388832895 93 K>N No TOPMed
gnomAD
rs2048516497 94 K>E No Ensembl
rs1886139646 95 E>K No Ensembl
COSM5084869 96 F>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs778082988 98 K>E No TOPMed
TCGA novel 98 K>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel
rs2048516612
 98 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs377182495 99 E>D No ESP
ExAC
TOPMed
gnomAD
rs143746381 99 E>K No ESP
ExAC
TOPMed
gnomAD
rs143746381 99 E>Q No ESP
ExAC
TOPMed
gnomAD
rs374110866 102 V>F No ESP
ExAC
TOPMed
gnomAD
rs374110866 102 V>I No ESP
ExAC
TOPMed
gnomAD
rs189499259 103 K>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs1305769810 104 L>P No gnomAD
rs2048517215 105 L>N No Ensembl
rs2048517299 106 N>D No TOPMed
rs747422145 106 N>I No ExAC
TOPMed
gnomAD
rs548100172 107 P>L No 1000Genomes
ExAC
gnomAD
rs16955377
VAR_047469
 108 R>S No UniProt
TOPMed
dbSNP
rs1199796627 108 R>T No gnomAD
rs2048517623 109 Y>* No Ensembl
rs2048517732 111 L>V No TOPMed
rs2048517831 113 L>* No gnomAD
rs2048517973 118 R>I No Ensembl
rs1598009169 119 I>T No Ensembl
rs2048518061 122 F>V No TOPMed
gnomAD
COSM4934194 126 W>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2048536493 126 W>R No gnomAD
rs148143284 127 S>* No ESP
ExAC
TOPMed
gnomAD
rs779257155 128 Q>* No ExAC
TOPMed
gnomAD
COSM3519698 131 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1171285931 132 G>R No gnomAD
rs758686781 133 G>D No ExAC
TOPMed
gnomAD
rs1374488408 133 G>R No gnomAD
rs758686781 133 G>V No ExAC
TOPMed
gnomAD
rs199899001 134 V>L No 1000Genomes
ExAC
gnomAD
rs199899001 134 V>M No 1000Genomes
ExAC
gnomAD
rs777302888 135 D>G No ExAC
gnomAD
rs769110292 135 D>H No ExAC
gnomAD
rs770623498 137 S>N No ExAC
TOPMed
gnomAD
rs770623498 137 S>T No ExAC
TOPMed
gnomAD
COSM6081408 138 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1037089869
COSM1230061
 138 E>K Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs2048537512 139 V>I No TOPMed
rs759164376 140 K>E No ExAC
gnomAD
rs2048537680 142 V>E No gnomAD
TCGA novel 143 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1754499434 144 L>F No Ensembl
rs1484800503 145 D>N No TOPMed
gnomAD
rs1484800503 145 D>Y No TOPMed
gnomAD
rs2143775941 146 L>V No Ensembl
rs760563503 147 V>I No ExAC
gnomAD
rs2048538101 148 K>E No Ensembl
rs2048538042 148 K>N No TOPMed
rs959439226 150 G>D No TOPMed
rs959439226 150 G>V No TOPMed
COSM1230062
rs754022108
 151 V>I large_intestine [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs2048538368 152 Q>H No Ensembl
TCGA novel 152 Q>V Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs372586768 154 P>A No ESP
ExAC
TOPMed
gnomAD
rs1419891918 154 P>L No TOPMed
gnomAD
rs576138079 155 P>A No 1000Genomes
ExAC
gnomAD
rs1166135943 155 P>L No TOPMed
gnomAD
rs2048538650 157 E>Q No Ensembl
rs2048538937 161 E>K No TOPMed
TCGA novel 163 A>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1050944304 163 A>T No TOPMed
gnomAD
rs200659319 164 R>G No ESP
ExAC
TOPMed
gnomAD
rs371117920 164 R>S No ESP
ExAC
TOPMed
gnomAD
rs753220120 167 T>I No ExAC
gnomAD
rs2048557056 168 A>V No TOPMed
rs756568791 170 I>M No ExAC
TOPMed
gnomAD
rs2048557211 171 S>L No TOPMed
rs745355707 173 N>D No ExAC
gnomAD
rs2048557321 174 P>L No TOPMed
rs751976511 176 T>I No ExAC
gnomAD
rs1202647646 180 T>I No TOPMed
gnomAD
rs1354051887 181 A>S No TOPMed
gnomAD
rs1354051887 181 A>T No TOPMed
gnomAD
rs2048557607 181 A>V No Ensembl
rs1449002863 182 P>A No gnomAD
rs374563045 182 P>R No ESP
TOPMed
rs779745600 184 L>V No ExAC
gnomAD
rs141975497 185 S>Y No ESP
ExAC
gnomAD
rs1349838449 187 V>A No TOPMed
gnomAD
rs2048558005 187 V>I No Ensembl
rs776517242 189 A>D No ExAC
TOPMed
rs2143781401 189 A>P No Ensembl
rs776517242 189 A>V No ExAC
TOPMed
rs748126742 191 K>N No ExAC
gnomAD
rs769737403 193 S>L No ExAC
gnomAD
rs1270240599 193 S>T No gnomAD
rs2048558704 195 V>A No TOPMed
gnomAD
rs763072230 195 V>I No ExAC
rs763072230 195 V>L No ExAC
rs766574996 196 T>I No ExAC
gnomAD
rs1484858289 199 P>S No TOPMed
gnomAD
rs1484858289 199 P>T No TOPMed
gnomAD
TCGA novel 200 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1187699723 201 Q>E No TOPMed
gnomAD
rs1187699723 201 Q>K No TOPMed
gnomAD
rs774633571 201 Q>R No ExAC
TOPMed
gnomAD
rs2048576774 202 I>M No TOPMed
gnomAD
rs973326878 202 I>T No TOPMed
gnomAD
rs2048576822 203 G>E No Ensembl
TCGA novel 203 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1285086292 206 H>P No TOPMed
gnomAD
rs781172915 206 H>Y No ExAC
TOPMed
gnomAD
rs769674017 207 S>I No ExAC
gnomAD
rs769674017 207 S>N No ExAC
gnomAD
rs1471134624 208 E>D No TOPMed
gnomAD
rs2048577118 208 E>V No gnomAD
rs987598736 210 D>G No Ensembl
rs773194129 211 M>T No ExAC
gnomAD
rs2048577315 211 M>V No gnomAD
rs1434310946 212 V>A No TOPMed
gnomAD
rs749108320 212 V>L No ExAC
TOPMed
gnomAD
rs749108320 212 V>M No ExAC
TOPMed
gnomAD
rs2048577675 214 M>I No TOPMed
rs1385388292 214 M>L No gnomAD
rs771053348
COSM5178863
 217 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771053348 217 R>G No ExAC
TOPMed
gnomAD
COSM1384550 217 R>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs138523968 217 R>Q No ESP
ExAC
TOPMed
gnomAD
COSM76784 218 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs759789156 219 M>I No ExAC
TOPMed
gnomAD
rs775884635 221 A>P No ExAC
TOPMed
gnomAD
rs775884635 221 A>T No ExAC
TOPMed
gnomAD
rs1368208600 221 A>V No gnomAD
rs1462414835 222 I>M No TOPMed
gnomAD
rs372934741 222 I>T No ESP
TOPMed
gnomAD
rs1249335063 222 I>V No TOPMed
TCGA novel 223 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs762171181 224 M>I No ExAC
rs369648190 224 M>L No ESP
ExAC
gnomAD
rs146206619 224 M>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369648190 224 M>V No ESP
ExAC
gnomAD
rs1452728449 225 E>D No TOPMed
gnomAD
COSM1384551
rs1284121497
 225 E>G Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs2048578629 226 N>S No Ensembl
rs751080690 227 T>N No ExAC
TOPMed
gnomAD
rs760404329 228 P>L No TOPMed
gnomAD
rs2048578916 233 H>N No Ensembl
rs1365765370 233 H>R No gnomAD
rs2048579082 235 D>N No TOPMed
gnomAD
rs2048579130 235 D>V No Ensembl
rs149485998 236 I>T No ESP
ExAC
TOPMed
gnomAD
rs1598013011 236 I>V No Ensembl
rs772144124 242 L>P No ExAC
gnomAD
rs780053276 243 Y>C No ExAC
TOPMed
gnomAD
rs1171117098 243 Y>H No TOPMed
gnomAD
rs1199554358 244 K>E No TOPMed
TCGA novel 244 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs747279255 245 T>A No ExAC
gnomAD
rs1014736735 246 G>D No Ensembl
rs777100387 247 R>G No ExAC
TOPMed
gnomAD
COSM1384552
rs748448745
 247 R>Q large_intestine [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs777100387 247 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs2048833686 248 E>* No Ensembl
COSM1130229 249 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs371016437 250 Q>K No ESP
ExAC
TOPMed
gnomAD
rs2048833779 252 R>S No TOPMed
rs773856127 253 I>V No ExAC
TOPMed
gnomAD
rs2143855973 254 M>V No Ensembl
rs1328308292 255 D>Y No TOPMed
TCGA novel 256 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs763491827 257 L>P No ExAC
TOPMed
gnomAD
rs2048834002 258 V>A No TOPMed
rs2143856035 260 V>L No Ensembl
rs2048834127 261 E>D No gnomAD
rs75347411 261 E>G No TOPMed
gnomAD
rs75347411 261 E>V No TOPMed
gnomAD
rs143987970 262 N>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs563743062 263 E>K No 1000Genomes
ExAC
gnomAD
rs375679599 265 V>I No ESP
ExAC
TOPMed
gnomAD
rs898848980 266 T>I No TOPMed
gnomAD
rs1187037669 267 V>I No gnomAD
rs1480729285 268 E>A No TOPMed
rs1480729285 268 E>G No TOPMed
rs2048834706 271 Q>* No Ensembl
rs1263773177 271 Q>H No gnomAD
rs1426162171 274 E>D No TOPMed
gnomAD
COSM4817453
rs2048834894
 274 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs780140638 275 D>V No ExAC
gnomAD
rs369435808 275 D>Y No ESP
ExAC
gnomAD
rs1437552271 276 L>S No gnomAD
rs2048835276 277 N>K No Ensembl
rs1167767034 279 A>V No TOPMed
rs755284445 280 I>V No ExAC
gnomAD
rs549780654 281 L>F No ExAC
TOPMed
gnomAD
rs549780654 281 L>V No ExAC
TOPMed
gnomAD
rs979169257 287 T>I No Ensembl
rs748336478 287 T>P No ExAC
gnomAD
rs748336478 287 T>S No ExAC
gnomAD
rs1309310091 288 R>G No TOPMed
rs756362736 288 R>K No ExAC
gnomAD
rs756362736 288 R>T No ExAC
gnomAD
rs749651390 289 N>S No ExAC
gnomAD
rs1469369978 290 Q>E No gnomAD
rs771626423 291 Q>L No ExAC
gnomAD
rs771626423 291 Q>R No ExAC
gnomAD
rs1480736699 292 R>S No gnomAD
rs2048951900 293 I>L No TOPMed
rs2048951952
COSM4401531
 293 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs2048952123 295 E>K No TOPMed
gnomAD
rs779287471 296 Q>H No ExAC
gnomAD
rs1392581452 297 N>I No TOPMed
gnomAD
rs1392581452 297 N>S No TOPMed
gnomAD
rs746323997 300 Q>E No ExAC
TOPMed
gnomAD
rs1166201882 300 Q>R No gnomAD
rs1459896821 303 A>G No gnomAD
rs2048952676 303 A>S No Ensembl
rs1412841448 307 T>I No TOPMed
gnomAD
rs1250577186 308 S>G No TOPMed
rs2143896425 308 S>I No Ensembl
rs757570993 308 S>R No ExAC
TOPMed
gnomAD
rs1361960759 310 P>A No TOPMed
gnomAD
rs1361960759 310 P>S No TOPMed
gnomAD
COSM4067939 312 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2048961988 313 P>A No Ensembl
rs2048962034 314 S>F No gnomAD
rs779280060 316 D>E No ExAC
gnomAD
rs1010929596 316 D>Y No TOPMed
gnomAD
COSM3795829 317 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1270389053 317 L>P No gnomAD
rs746384666 318 L>F No ExAC
gnomAD
rs762534676 319 D>E No ExAC
gnomAD
rs142215434 319 D>H No ESP
ExAC
TOPMed
gnomAD
rs142215434 319 D>N No ESP
ExAC
TOPMed
gnomAD
rs142215434 319 D>Y No ESP
ExAC
TOPMed
gnomAD
rs902349276 321 S>G No Ensembl
TCGA novel 323 S>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs770650363 323 S>R No ExAC
TOPMed
gnomAD
rs1184885288 324 P>A No gnomAD
rs774152325 324 P>H No ExAC
gnomAD
COSM1750171
rs774152325
 324 P>L urinary_tract [Cosmic] No cosmic curated
ExAC
gnomAD
rs1184885288 324 P>T No gnomAD
rs199889989 325 R>P No ExAC
TOPMed
gnomAD
rs199889989 325 R>Q No ExAC
TOPMed
gnomAD
rs147858585 325 R>W No ESP
ExAC
TOPMed
gnomAD
rs1175824041 328 R>T No gnomAD
rs2143896804 329 A>V No Ensembl
rs2048963183 330 T>A No TOPMed
rs377190007 330 T>I No ESP
TOPMed
gnomAD
rs752885399 331 L>P No ExAC
TOPMed
gnomAD
rs1345738751 333 E>* No gnomAD
rs1012298012 333 E>V No TOPMed
gnomAD
rs2048963493 334 L>H No TOPMed
rs760836452 335 N>S No ExAC
TOPMed
gnomAD
rs764207036 337 M>L No ExAC
gnomAD
rs1027341429 337 M>T No TOPMed
TCGA novel 337 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2048963736 338 N>K No TOPMed
rs2048963687 338 N>S No TOPMed
rs2048963788 339 N>D No TOPMed
rs1391107491 340 Q>* No TOPMed
rs754130279 341 L>I No ExAC
gnomAD
rs1234557885 342 S>* No TOPMed
gnomAD
rs1234557885 342 S>L No TOPMed
gnomAD
TCGA novel 342 S>Q Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs140689063 345 N>D No ESP
ExAC
TOPMed
gnomAD
rs140689063 345 N>H No ESP
ExAC
TOPMed
gnomAD
rs777215365 345 N>K No ExAC
TOPMed
gnomAD
rs144588217 347 S>G No ESP
gnomAD
rs147880312 347 S>R No ESP
ExAC
gnomAD
rs770583334 348 L>F No ExAC
TOPMed
gnomAD
rs1284439844 348 L>P No Ensembl
rs774060611 349 P>A No ExAC
TOPMed
gnomAD
rs745664277 349 P>L No ExAC
TOPMed
gnomAD
rs536666057 350 S>N No 1000Genomes
ExAC
gnomAD
TCGA novel 351 S>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM981539 351 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs542984667 354 T>* No 1000Genomes
ExAC
TOPMed
gnomAD
rs1045035511 354 T>A No TOPMed
rs1381207379 355 N>I No TOPMed
rs2048994655 357 L>V No TOPMed
rs775577326 359 P>L No ExAC
TOPMed
gnomAD
rs2048994707 359 P>S No TOPMed
rs1447298793 361 L>V No TOPMed
gnomAD
rs2143906734 362 H>L No Ensembl
TCGA novel
rs2048994870
 363 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs760636317 364 Q>E No ExAC
gnomAD
TCGA novel 364 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM460289 365 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1215660682 365 M>L No gnomAD
rs1215660682 365 M>V No gnomAD
rs2048995149 369 A>S No TOPMed
rs776813107 369 A>V No ExAC
gnomAD
rs1228352535 371 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1228352535 371 E>Q No TOPMed
gnomAD
rs376669389 372 N>S No ESP
ExAC
TOPMed
gnomAD
rs765477906 373 T>I No ExAC
TOPMed
gnomAD
rs1355341271 374 E>A No TOPMed
gnomAD
TCGA novel 374 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs750818010 375 I>L No ExAC
gnomAD
rs2048995704 376 P>L No Ensembl
rs115766743 377 P>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs937318864 380 Q>* No TOPMed
gnomAD
rs778232108 381 R>G No ExAC
gnomAD
rs1598052674 382 T>P No Ensembl
rs750117676 382 T>S No ExAC
gnomAD
rs2049135835 383 S>R No Ensembl
rs758083578 384 Q>L No ExAC
gnomAD
rs758083578 384 Q>R No ExAC
gnomAD
rs113954121 386 L>P No Ensembl
rs2049136109 388 S>A No Ensembl
rs1055974893 389 S>G No TOPMed
gnomAD
rs1363183298 390 H>L No gnomAD
rs375184120 391 A>T No ESP
ExAC
TOPMed
gnomAD
rs1203671042 392 Y>* No TOPMed
gnomAD
rs750513044 392 Y>C No Ensembl
rs544602385 392 Y>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs544602385 392 Y>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs1454747524 393 D>E No TOPMed
gnomAD
rs773126009 394 N>S No ExAC
TOPMed
gnomAD
rs769587863 396 L>V No ExAC
TOPMed
gnomAD
rs777954406 397 E>D No ExAC
rs1010324919 399 S>* No TOPMed
gnomAD
rs1010324919 399 S>L No TOPMed
gnomAD
rs2049177008 400 N>K No Ensembl
rs1471097810 400 N>S No gnomAD
rs370162717 402 V>E No ESP
ExAC
gnomAD
rs771207641 404 L>P No ExAC
gnomAD
rs2049177330 405 Q>* No Ensembl
rs2049177330 405 Q>E No Ensembl
rs1434564208 405 Q>H No gnomAD
rs774557737 406 P>S No ExAC
gnomAD
rs550794811 407 V>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs550794811 407 V>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs2049177685 409 L>R No TOPMed
rs1227758379 410 Q>E No TOPMed
gnomAD
rs377527400 412 I>F No ESP
ExAC
TOPMed
gnomAD
rs150430773 414 A>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1218834646 414 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs889843852 419 Q>H No TOPMed
gnomAD
rs1290196082 419 Q>R No TOPMed
gnomAD
rs1472539089 420 S>G No gnomAD
rs762550272 420 S>N No ExAC
gnomAD
rs1472539089 420 S>R No gnomAD
rs2143958756 420 S>R No Ensembl
rs762550272 420 S>T No ExAC
gnomAD
rs536580241 421 L>P No 1000Genomes
gnomAD
rs536580241 421 L>Q No 1000Genomes
gnomAD
rs1416050380 423 P>R No gnomAD
rs2049178726 423 P>T No TOPMed
rs2049178882 424 L>* No gnomAD
rs1476512700 425 P>S No Ensembl
rs1164279252 427 N>I No gnomAD
rs912253438 430 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs961034037 432 T>A No gnomAD
rs961034037 432 T>S No gnomAD
rs1294954042 433 K>E No gnomAD
rs1341829314 433 K>N No gnomAD
rs2049190221 433 K>R No Ensembl
rs965086792 434 S>G No Ensembl
rs1235513046
COSM473064
 435 D>G kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs975604746 436 L>V No gnomAD
rs1441164008 437 Q>K No gnomAD
rs762358009 438 P>A No ExAC
TOPMed
gnomAD
rs545805013 438 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs762358009 438 P>T No ExAC
TOPMed
gnomAD
rs773964226 439 P>S No ExAC
TOPMed
gnomAD
rs759278870 441 Y>* No ExAC
TOPMed
gnomAD
rs752604183 442 Y>* No ExAC
TOPMed
gnomAD
rs767062857 442 Y>C No ExAC
gnomAD
rs1389805162 442 Y>H No gnomAD
rs368958913 443 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs1412672918 445 M>V No TOPMed
gnomAD
rs1333505428 446 E>G No gnomAD
rs1436665010 449 P>R No gnomAD
TCGA novel 449 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1318065113 450 L>S No gnomAD
rs2049191607 451 A>P No TOPMed
rs757146925 454 V>D No ExAC
gnomAD
rs2049191753 454 V>I No TOPMed
rs1343390879 455 T>A No gnomAD
rs2049192019 455 T>I No Ensembl
rs1168073388 457 E>V No gnomAD
TCGA novel 459 I>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs888855114 459 I>T No TOPMed
rs758415657 461 E>K No ExAC
gnomAD
rs1473520827 461 E>V No TOPMed
gnomAD
TCGA novel 462 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs192825168 463 I>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs751759102 464 D>G No ExAC
gnomAD
rs1428267139 465 A>T No TOPMed
gnomAD
COSM981542 467 Q>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2077094943 468 H>N No gnomAD
rs1567852519 468 H>P No Ensembl
rs1457978646 468 H>Q No TOPMed
gnomAD
rs1164588105 470 G>E No gnomAD
COSM981543 472 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs945596923 473 N>I No Ensembl
rs1404436142 473 N>Y No gnomAD
rs781722088 474 D>N No ExAC
gnomAD
rs748506597 475 G>S No ExAC
gnomAD
rs770489876 476 D>A No ExAC
TOPMed
gnomAD
rs770489876 476 D>G No ExAC
TOPMed
gnomAD
rs752061150 477 D>G No ExAC
TOPMed
gnomAD
rs752061150 477 D>R No ExAC
TOPMed
gnomAD

No associated diseases with O75674

8 regional properties for O75674

Type Name Position InterPro Accession
domain Protein kinase domain 191 - 450 IPR000719
domain SH2 domain 76 - 170 IPR000980
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 192 - 441 IPR001245
domain SH3 domain 8 - 72 IPR001452
active_site Tyrosine-protein kinase, active site 308 - 320 IPR008266
binding_site Protein kinase, ATP binding site 197 - 219 IPR017441
domain Tyrosine-protein kinase, catalytic domain 191 - 441 IPR020635
domain PTK6, SH2 domain 75 - 174 IPR035846

Functions

Description
EC Number
Subcellular Localization
  • Golgi apparatus, Golgi stack
  • Endosome membrane
  • Cytoplasm
  • Membrane ; Peripheral membrane protein ; Cytoplasmic side
  • A small proportion is membrane-associated
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 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.
endosome A vacuole to which materials ingested by endocytosis are delivered.
endosome membrane The lipid bilayer surrounding an endosome.
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.
Golgi stack The set of thin, flattened membrane-bounded compartments, called cisternae, that form the central portion of the Golgi complex. The stack usually comprises cis, medial, and trans cisternae; the cis- and trans-Golgi networks are not considered part of the stack.
lysosome A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.

6 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 activator activity Binds to and increases the activity of a protein kinase, an enzyme which phosphorylates a protein.
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.
SH3 domain binding Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.
ubiquitin binding Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation.

6 GO annotations of biological process

Name Definition
activation of protein kinase activity Any process that initiates the activity of an inactive protein kinase.
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.
positive regulation of protein autophosphorylation Any process that activates or increases the frequency, rate or extent of the phosphorylation by a protein of one or more of its own residues.
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.
ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway The chemical reactions and pathways resulting in the breakdown of a protein or peptide covalently tagged with ubiquitin, via the multivesicular body (MVB) sorting pathway; ubiquitin-tagged proteins are sorted into MVBs, and delivered to a lysosome/vacuole for degradation.

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
Q6ZVM7 TOM1L2 TOM1-like protein 2 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
MAFGKSHRDP YATSVGHLIE KATFAGVQTE DWGQFMHICD IINTTQDGPK DAVKALKKRI
70 80 90 100 110 120
SKNYNHKEIQ LTLSLIDMCV QNCGPSFQSL IVKKEFVKEN LVKLLNPRYN LPLDIQNRIL
130 140 150 160 170 180
NFIKTWSQGF PGGVDVSEVK EVYLDLVKKG VQFPPSEAEA ETARQETAQI SSNPPTSVPT
190 200 210 220 230 240
APALSSVIAP KNSTVTLVPE QIGKLHSELD MVKMNVRVMS AILMENTPGS ENHEDIELLQ
250 260 270 280 290 300
KLYKTGREMQ ERIMDLLVVV ENEDVTVELI QVNEDLNNAI LGYERFTRNQ QRILEQNKNQ
310 320 330 340 350 360
KEATNTTSEP SAPSQDLLDL SPSPRMPRAT LGELNTMNNQ LSGLNFSLPS SDVTNNLKPS
370 380 390 400 410 420
LHPQMNLLAL ENTEIPPFAQ RTSQNLTSSH AYDNFLEHSN SVFLQPVSLQ TIAAAPSNQS
430 440 450 460 470
LPPLPSNHPA MTKSDLQPPN YYEVMEFDPL APAVTTEAIY EEIDAHQHKG AQNDGD