Descriptions

Cbls are adaptor proteins with RING ubiquitin ligase activity, which function as a negative regulator of many signaling pathways. In human CBL, the phosphorylation of Y371 is essential in regulation of the E3 activity of CBL. When Y371 is unmodified, the RING domain is spatially restricted to regions distal from the TKBD substrate-binding site. Phosphorylation facilitates LHR (linker-loop1 (LL1), linker-helix (LH) and linker-loop2 (LL2)) conformational changes that enable the RING domain to approach the N-terminal tyrosine kinase-binding domain (TKBD) substrate-binding site, leading to an increased activity. Specifically, the absence of LH-TKBD contact enables dramatic movement of the RING domain, bringing E2 closer to the TKBD substrate-binding site. Restricting and freeing the RING domain may be a general mechanism for regulating other RING E3s.

Autoinhibitory domains (AIDs)

Target domain

9-323 (TKBD)

Relief mechanism

PTM

Assay

Target domain

11-321 (TKB domain)

Relief mechanism

PTM

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

7 structures for Q9ULV8

Entry ID Method Resolution Chain Position Source
3OP0 X-ray 252 A A/B 9-323 PDB
3VRN X-ray 164 A A 1-323 PDB
3VRO X-ray 180 A A 1-323 PDB
3VRP X-ray 152 A A 1-323 PDB
3VRQ X-ray 239 A A/B 1-323 PDB
3VRR X-ray 200 A A 1-323 PDB
AF-Q9ULV8-F1 Predicted AlphaFoldDB

580 variants for Q9ULV8

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1441915381 3 L>V No TOPMed
gnomAD
rs772312798 4 A>G No ExAC
TOPMed
gnomAD
rs746098134 4 A>T No ExAC
TOPMed
gnomAD
rs772312798 4 A>V No ExAC
TOPMed
gnomAD
rs780884827 5 V>M No ExAC
TOPMed
gnomAD
rs1032029318 6 A>S No TOPMed
gnomAD
rs1032029318
COSM4079199
6 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1837663691 6 A>V No TOPMed
rs34932144 8 W>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2098979082 8 W>* No gnomAD
rs34932144 8 W>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1265333098 11 Q>* No TOPMed
gnomAD
rs1599853389 12 W>C No Ensembl
rs773289730 12 W>G No ExAC
TOPMed
gnomAD
rs762946724 13 E>K No ExAC
TOPMed
gnomAD
rs762946724 13 E>Q No ExAC
TOPMed
gnomAD
rs902236013 14 E>D No TOPMed
gnomAD
rs770372319
COSM4827065
14 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1967610568 15 A>V No gnomAD
rs1399017208 16 R>C No TOPMed
gnomAD
rs1331119853 16 R>L No TOPMed
gnomAD
rs773891788 17 A>P No ExAC
gnomAD
TCGA novel 17 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs759152258 17 A>V No ExAC
gnomAD
rs1369363757 20 R>Q No TOPMed
gnomAD
rs1967611091 20 R>W No gnomAD
rs1000666675 23 R>M No TOPMed
rs1225687611 24 M>V No TOPMed
gnomAD
rs767195128 25 L>P No ExAC
gnomAD
rs1341836439 26 Q>* No TOPMed
gnomAD
rs1366818760 26 Q>H No TOPMed
gnomAD
rs200348346 26 Q>R No ESP
ExAC
TOPMed
gnomAD
rs761041888 27 R>H No ExAC
TOPMed
gnomAD
rs761041888 27 R>L No ExAC
TOPMed
gnomAD
rs1418197452 27 R>S No gnomAD
rs757709044 30 E>K No ExAC
TOPMed
gnomAD
rs778906584 31 Q>* No ExAC
gnomAD
rs778906584 31 Q>E No ExAC
gnomAD
rs778906584 31 Q>K No ExAC
gnomAD
rs750480822 31 Q>R No ExAC
TOPMed
gnomAD
rs758611319 32 C>R No ExAC
TOPMed
gnomAD
rs758611319 32 C>S No ExAC
TOPMed
gnomAD
rs866606097 34 D>A No gnomAD
rs866606097 34 D>G No gnomAD
rs780339606 34 D>N No ExAC
gnomAD
rs1323687243 36 R>Q No gnomAD
rs1396002600 37 L>Q No TOPMed
gnomAD
rs1396002600 37 L>R No TOPMed
gnomAD
rs1239073449 38 S>F No TOPMed
gnomAD
rs1967614077 38 S>P No TOPMed
gnomAD
rs749288188 39 V>L No ExAC
TOPMed
gnomAD
rs749288188 39 V>M No ExAC
TOPMed
gnomAD
rs1967614459 40 S>N No TOPMed
rs1397115734 41 P>R No TOPMed
rs1445083270 41 P>S No TOPMed
gnomAD
rs1445083270 41 P>T No TOPMed
gnomAD
rs983411997 42 P>L No TOPMed
rs147885389 42 P>S No ESP
ExAC
TOPMed
gnomAD
rs1967615140
COSM3103348
43 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
gnomAD
rs1967615300 44 L>Q No TOPMed
rs931299718
COSM3971083
45 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1967615618 46 D>N No TOPMed
gnomAD
rs775127808 49 P>A No ExAC
TOPMed
gnomAD
rs148948759 49 P>H No ESP
ExAC
TOPMed
gnomAD
rs148948759 49 P>L No ESP
ExAC
TOPMed
gnomAD
rs775127808 49 P>S No ExAC
TOPMed
gnomAD
rs1446927956 50 R>G No gnomAD
rs776955522 50 R>H No ExAC
TOPMed
gnomAD
rs762265193 51 T>I No ExAC
TOPMed
gnomAD
rs1163724186 53 Q>K No gnomAD
COSM3535746 56 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs765766542 56 R>P No ExAC
TOPMed
gnomAD
rs765766542 56 R>Q No ExAC
TOPMed
gnomAD
rs1967616911 57 E>A No TOPMed
gnomAD
rs1455126115 57 E>D No gnomAD
rs943884863 57 E>Q No TOPMed
rs572115097 58 V>A No 1000Genomes
ExAC
gnomAD
rs541721336 59 A>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs1389009213 59 A>T No gnomAD
rs541721336 59 A>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1320747390 61 S>P No gnomAD
rs1967617790 62 R>P No TOPMed
TCGA novel 62 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1967617699 62 R>W No Ensembl
rs777753616 63 R>P No ExAC
TOPMed
gnomAD
rs777753616 63 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs115775900 63 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM4079200 64 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1967618769 66 G>D No Ensembl
rs1226709242 66 G>R No TOPMed
gnomAD
rs1226709242 66 G>S No TOPMed
gnomAD
rs1159769841 67 G>* No Ensembl
rs749090451 67 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1330131412 68 G>A No TOPMed
gnomAD
rs1967619043 68 G>R No Ensembl
rs1207100126 69 G>S No gnomAD
rs778923243 71 G>E No ExAC
TOPMed
gnomAD
rs757201148 71 G>R No ExAC
TOPMed
gnomAD
rs778923243 71 G>V No ExAC
TOPMed
gnomAD
rs1967619915 72 G>C No gnomAD
rs949078334 72 G>D No gnomAD
COSM3892838 72 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1180878122 74 G>R No gnomAD
rs1180878122 74 G>S No gnomAD
rs1436824407 75 G>C No TOPMed
rs1436824407 75 G>R No TOPMed
rs1967620589 76 S>F No TOPMed
rs1967620512 76 S>P No TOPMed
rs530433110 78 D>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs1426068218 78 D>N No TOPMed
gnomAD
rs530433110 78 D>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1455042710 79 F>V No gnomAD
rs1000593338 81 L>F No TOPMed
gnomAD
rs1000593338 81 L>V No TOPMed
gnomAD
rs1032038079 83 Y>C No TOPMed
gnomAD
rs1967621273 83 Y>D No TOPMed
rs1032038079 83 Y>S No TOPMed
gnomAD
rs1260448016 85 A>D No TOPMed
gnomAD
rs1967621647 86 N>K No Ensembl
rs1212319676 86 N>S No TOPMed
gnomAD
rs746709240 87 L>V No ExAC
gnomAD
rs1967621877 88 E>G No Ensembl
rs1377862471 89 A>D No TOPMed
gnomAD
rs1277462108 89 A>T No TOPMed
gnomAD
rs548486447 90 K>E No gnomAD
rs768263588 90 K>R No ExAC
gnomAD
rs1336377385 91 S>N No gnomAD
rs1344052233 93 Q>H No TOPMed
gnomAD
rs1967622995 95 A>G No gnomAD
rs1599853907 96 A>T No TOPMed
rs1967623248 99 P>A No Ensembl
COSM3535748
rs1568554125
100 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs967594513 101 R>G No TOPMed
gnomAD
rs1401164342 101 R>P No TOPMed
gnomAD
rs1401164342 101 R>Q No TOPMed
gnomAD
rs967594513 101 R>W No TOPMed
gnomAD
rs765456312 102 G>C No ExAC
TOPMed
gnomAD
rs1204290245 103 R>* No gnomAD
COSM3535749
rs1035887672
104 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs1251944026 104 R>S No gnomAD
rs1035887672 104 R>T No TOPMed
rs1030666838 105 S>G No Ensembl
rs1568554186 106 A>T No gnomAD
rs1967624562 107 N>D No TOPMed
rs563733027 108 D>E No 1000Genomes
TOPMed
gnomAD
rs1967624648 108 D>N No Ensembl
rs773804002 109 E>D No ExAC
TOPMed
gnomAD
rs1196319108 109 E>K No TOPMed
gnomAD
rs1196319108 109 E>Q No TOPMed
gnomAD
rs1967624966 109 E>V No Ensembl
rs1421419024 110 L>F No TOPMed
gnomAD
rs919974224 110 L>P No TOPMed
gnomAD
COSM3990103 111 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs983465843 111 F>S No TOPMed
gnomAD
rs1174706035 112 R>P No gnomAD
rs1377633149 113 A>E No TOPMed
gnomAD
rs1967625763 114 G>S No Ensembl
rs952747717 115 S>F No TOPMed
gnomAD
rs1014912119 115 S>P No TOPMed
gnomAD
rs1014912119 115 S>T No TOPMed
gnomAD
rs1967626328 117 L>R No TOPMed
rs1465638279 117 L>V No TOPMed
gnomAD
rs1967626391 118 R>T No TOPMed
rs372975672 119 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201563104
COSM998051
119 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs935339144 120 Q>* No TOPMed
rs1967706738 120 Q>H No gnomAD
rs2965127 121 L>V No Ensembl
rs142893738 122 A>S No ESP
TOPMed
gnomAD
rs2122390654 123 K>N No Ensembl
rs774630684 123 K>R No ExAC
TOPMed
gnomAD
TCGA novel 123 K>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM3535750 126 I>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1170657904 129 S>N No gnomAD
rs1599857318 130 H>R No Ensembl
rs1967707940 131 M>I No TOPMed
rs140833100 132 H>L No ESP
ExAC
TOPMed
gnomAD
rs199953740 133 A>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs199953740 133 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765128314 134 E>K No ExAC
gnomAD
rs1967708704 136 H>Y No TOPMed
rs1289276617 137 A>P No TOPMed
gnomAD
rs1289276617 137 A>T No TOPMed
gnomAD
rs376312238 137 A>V No TOPMed
gnomAD
rs1394255813 138 L>F No TOPMed
gnomAD
rs1394255813 138 L>V No TOPMed
gnomAD
rs981330867 139 F>L No gnomAD
rs865916210 140 P>A No TOPMed
rs751438592 140 P>L No ExAC
gnomAD
rs865916210 140 P>S No TOPMed
rs1967709870 141 G>E No TOPMed
rs377440313 141 G>R No ESP
ExAC
TOPMed
gnomAD
TCGA novel 141 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs747887583 142 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs747887583 142 G>V No ExAC
gnomAD
rs144857168 143 K>* No ESP
ExAC
TOPMed
gnomAD
rs144857168 143 K>E No ESP
ExAC
TOPMed
gnomAD
rs1217917009 143 K>M No gnomAD
rs1967710418 144 Y>N No gnomAD
rs1261713017 144 Y>S No gnomAD
rs1487014571 146 G>E No gnomAD
rs771366662 147 H>R No ExAC
TOPMed
gnomAD
rs749602901 147 H>Y No ExAC
gnomAD
rs1409817102 148 M>I No TOPMed
gnomAD
COSM4079201
rs1190196751
148 M>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs1967711103 148 M>T No Ensembl
rs775004600 150 Q>H No ExAC
TOPMed
gnomAD
rs1227040829 150 Q>R No TOPMed
gnomAD
rs1346752627 152 T>I No gnomAD
rs1568555756 152 T>P No Ensembl
rs1967711832 153 K>E No Ensembl
rs35106910 153 K>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs35106910 153 K>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775409459 154 A>P No ExAC
gnomAD
rs1283928118 155 P>T No TOPMed
rs764214326 156 A>T No ExAC
TOPMed
gnomAD
rs371124704 158 T>I No ESP
ExAC
TOPMed
gnomAD
rs371124704 158 T>N No ESP
ExAC
TOPMed
gnomAD
rs762748099 159 F>C No ExAC
gnomAD
rs1795223132 164 C>F No TOPMed
gnomAD
rs1967713309 164 C>G No TOPMed
rs1384229661 165 G>E No TOPMed
gnomAD
rs140442555 165 G>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752145860 167 R>G No ExAC
TOPMed
gnomAD
rs201807125 167 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752145860 167 R>W No ExAC
TOPMed
gnomAD
rs746229759 168 C>S No ExAC
TOPMed
gnomAD
rs1423933513 169 V>A No gnomAD
rs1967720004 169 V>M No TOPMed
gnomAD
rs1295857633 170 L>M No gnomAD
rs1967720388 171 P>S No TOPMed
rs2122394590 174 E>* No Ensembl
rs114569424 178 L>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1383499306 178 L>H No TOPMed
gnomAD
rs1967720892 180 G>S No TOPMed
rs137908794 181 T>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1599857841 181 T>P No Ensembl
rs200445340 185 V>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs200445340 185 V>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs2122394810 185 V>M No Ensembl
COSM3535751 186 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1274103082 187 P>R No gnomAD
rs770003480 188 G>A No ExAC
gnomAD
rs1399203802 188 G>R No gnomAD
rs759339597 190 T>I No ExAC
TOPMed
gnomAD
rs944222784 190 T>P No Ensembl
rs759339597 190 T>R No ExAC
TOPMed
gnomAD
COSM3535752 191 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1188155125 192 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1328874977 192 L>V No TOPMed
rs775321656 194 L>* No ExAC
gnomAD
rs775321656 194 L>S No ExAC
gnomAD
rs372310813 195 R>C No ESP
ExAC
gnomAD
rs372310813 195 R>G No ESP
ExAC
gnomAD
rs575600792 195 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs149481548 196 T>I No ESP
TOPMed
gnomAD
rs2122395288 197 T>A No Ensembl
rs868021585 198 I>T No TOPMed
gnomAD
rs764965728 199 D>Y No ExAC
gnomAD
rs1326165886 201 T>P No gnomAD
rs750033744 201 T>S No ExAC
gnomAD
rs1272373909 202 C>Y No gnomAD
rs1232819921 203 S>G No TOPMed
gnomAD
rs780423177 204 G>R No ExAC
TOPMed
gnomAD
rs755482665 205 H>Y No ExAC
gnomAD
rs781320503 206 V>M No ExAC
gnomAD
rs769807888 210 E>* No ExAC
TOPMed
gnomAD
rs769807888 210 E>K No ExAC
TOPMed
gnomAD
rs749488002 212 D>H No ExAC
TOPMed
gnomAD
rs749488002 212 D>N No ExAC
TOPMed
gnomAD
rs760567497 213 V>D No ExAC
gnomAD
rs557856786
COSM4382626
213 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM474903 213 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs768709346 214 F>L No ExAC
rs1967725365 215 T>P No TOPMed
rs776338309 217 L>F No ExAC
gnomAD
rs761418172 217 L>P No ExAC
rs1967725891 218 F>V No Ensembl
TCGA novel 220 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs759899304 221 W>* No ExAC
gnomAD
rs1967772777 223 T>A No Ensembl
rs1483170598 223 T>I No TOPMed
rs953975785 224 L>H No Ensembl
rs1418805363 227 N>S No TOPMed
gnomAD
rs767829298 228 W>S No ExAC
gnomAD
rs753226393 230 L>F No ExAC
TOPMed
gnomAD
rs753226393 230 L>V No ExAC
TOPMed
gnomAD
rs373513195 232 A>V No ESP
ExAC
TOPMed
gnomAD
rs1204850508 234 N>H No TOPMed
COSM1394498
COSM5135618
236 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs764196556 236 P>T No ExAC
gnomAD
rs753946761 237 G>D No ExAC
TOPMed
gnomAD
rs1324057395 238 Y>C No gnomAD
rs757478241 238 Y>H No ExAC
TOPMed
gnomAD
rs2122409934 239 M>K No Ensembl
rs1369996784 239 M>V No gnomAD
rs1321205852 240 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1291457488 242 L>R No TOPMed
rs779208700 245 D>G No ExAC
gnomAD
rs779208700 245 D>V No ExAC
gnomAD
rs1599859761 246 E>K No Ensembl
COSM5833772
COSM3823385
247 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs148127553
COSM3103362
247 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM998053 247 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1226540961 248 Q>P No gnomAD
rs781082374 249 E>G No ExAC
rs141956736 250 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs147316311 250 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs147316311 250 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141956736 250 R>S No ESP
ExAC
TOPMed
gnomAD
rs1392563549 252 Q>P No Ensembl
rs1392563549 252 Q>R No Ensembl
rs138510701 254 C>F No 1000Genomes
ExAC
gnomAD
rs1269891319 255 R>G No gnomAD
rs759141229 256 D>E No ExAC
gnomAD
TCGA novel 256 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 257 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1967776739 257 K>E No Ensembl
rs1463540514 259 G>D No gnomAD
rs767920193 259 G>S No ExAC
TOPMed
gnomAD
rs1162871941 260 S>T No gnomAD
rs1967826418 261 Y>F No TOPMed
rs1489569438 263 F>L No gnomAD
rs761040194 264 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1568558009 264 R>W No TOPMed
rs777222729 265 P>R No ExAC
gnomAD
rs1486005385 265 P>S No TOPMed
gnomAD
rs765404486 266 S>N No ExAC
gnomAD
rs1224709577 266 S>R No TOPMed
gnomAD
rs558587668 266 S>R No 1000Genomes
ExAC
gnomAD
rs1350362593 267 C>R No TOPMed
gnomAD
rs1350362593 267 C>S No TOPMed
gnomAD
rs750497513
COSM998055
269 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201207715 269 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs201207715 269 R>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs780929631 270 L>Q No Ensembl
rs995111410 271 G>E No TOPMed
gnomAD
rs751768100 271 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1295944061 272 Q>* No gnomAD
rs1967828297 272 Q>R No TOPMed
rs1351479922 273 W>* No Ensembl
rs1967828447 274 A>P No Ensembl
rs753864374 275 I>M No ExAC
gnomAD
rs777383264 275 I>N No ExAC
gnomAD
rs755972476 275 I>V No ExAC
gnomAD
rs778549620 276 G>A No ExAC
gnomAD
rs143342303 276 G>S No ESP
ExAC
TOPMed
gnomAD
rs1280307994 277 Y>C No TOPMed
gnomAD
rs1967829312 278 V>A No Ensembl
rs1399897724 278 V>L No TOPMed
rs1405445288 279 S>N No TOPMed
gnomAD
rs745367240 280 S>P No ExAC
TOPMed
gnomAD
rs1967829584 281 D>H No Ensembl
rs1231229315 283 S>N No gnomAD
rs1239786858 287 T>A No gnomAD
rs1251878645 287 T>I No TOPMed
gnomAD
rs1452277500 288 I>T No gnomAD
rs1967830276 289 P>S No Ensembl
rs746620893 290 A>T No ExAC
TOPMed
gnomAD
rs1395689292 291 N>K No gnomAD
rs769084079 293 P>H No ExAC
TOPMed
gnomAD
TCGA novel 293 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1416071534 293 P>T No gnomAD
rs762419781 297 V>G No ExAC
TOPMed
gnomAD
rs1438693175 298 L>V No gnomAD
rs1967831293 301 G>V No Ensembl
rs1439241795 302 Q>* No gnomAD
rs370388709 304 D>E No ESP
ExAC
TOPMed
gnomAD
rs773800624 304 D>Y No ExAC
TOPMed
gnomAD
TCGA novel 305 G>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs61755281 305 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs147455821 308 L>F No ESP
ExAC
TOPMed
gnomAD
rs147455821 308 L>V No ESP
ExAC
TOPMed
gnomAD
rs780714860 311 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs2122472012 313 K>E No Ensembl
rs1284066266 313 K>R No gnomAD
rs1968005839 314 T>P No Ensembl
rs747797534 315 H>Y No ExAC
gnomAD
rs756569446 316 N>S No ExAC
TOPMed
gnomAD
rs182254561 318 D>Y No 1000Genomes
rs1258130935 322 L>F No gnomAD
rs760486029 323 G>S No ExAC
TOPMed
gnomAD
rs745945780 325 A>E No ExAC
TOPMed
gnomAD
rs745945780 325 A>G No ExAC
TOPMed
gnomAD
rs774632827 325 A>T No ExAC
TOPMed
gnomAD
rs745945780 325 A>V No ExAC
TOPMed
gnomAD
rs772120427 326 E>D No ExAC
gnomAD
rs1968007330 327 P>L No TOPMed
rs2122472442 327 P>S No Ensembl
rs760898443 330 R>C No ExAC
TOPMed
gnomAD
rs139273613 330 R>H No ESP
ExAC
TOPMed
gnomAD
rs139273613 330 R>L No ESP
ExAC
TOPMed
gnomAD
rs772959528 331 I>N No ExAC
gnomAD
rs766142122 332 H>Q No ExAC
TOPMed
gnomAD
rs536360053 332 H>R No 1000Genomes
ExAC
gnomAD
rs1968008177 333 V>A No TOPMed
gnomAD
rs751449455 333 V>M No ExAC
TOPMed
gnomAD
rs1968008270 335 E>K No TOPMed
rs1166415820 336 E>D No TOPMed
gnomAD
rs1279432747 336 E>G No gnomAD
rs897758747 336 E>K No gnomAD
rs758907585 338 L>V No ExAC
rs1458790653 339 Q>* No gnomAD
rs1968075858 339 Q>R No TOPMed
rs1316693211 340 L>F No TOPMed
gnomAD
rs961495774 341 Y>C No TOPMed
gnomAD
rs961495774 341 Y>F No TOPMed
gnomAD
rs2122488341 342 W>C No Ensembl
rs747076535 343 A>V No ExAC
gnomAD
rs149074838 344 M>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2122488403 345 D>N No Ensembl
rs1240356013 346 S>F No TOPMed
rs748321868 347 T>A No ExAC
TOPMed
gnomAD
rs548133945 347 T>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs748321868 347 T>P No ExAC
TOPMed
gnomAD
TCGA novel 349 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1236477787 350 L>F No TOPMed
rs759463367 350 L>H No ExAC
gnomAD
rs759463367 350 L>P No ExAC
gnomAD
rs1236477787 350 L>V No TOPMed
rs775236973 351 C>R No ExAC
gnomAD
rs760268560 352 K>E No ExAC
TOPMed
gnomAD
rs2122488661
TCGA novel
352 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs1303390345 354 C>* No gnomAD
rs142187731 354 C>S No 1000Genomes
TOPMed
rs142187731 354 C>Y No 1000Genomes
TOPMed
rs952137350 355 A>D No TOPMed
gnomAD
rs952137350 355 A>G No TOPMed
gnomAD
rs952137350 355 A>V No TOPMed
gnomAD
rs1968078232 356 E>A No Ensembl
COSM4834391
rs763654909
356 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs763654909 356 E>Q No ExAC
gnomAD
rs761530274 357 S>C No ExAC
gnomAD
rs148655912 357 S>N No ESP
ExAC
TOPMed
gnomAD
rs1023454829 357 S>R No TOPMed
gnomAD
rs750794901 358 N>K No ExAC
TOPMed
gnomAD
rs1445991874 358 N>S No TOPMed
rs1968078892 359 K>M No TOPMed
rs758885229 360 D>N No ExAC
gnomAD
rs1968079066 360 D>V No gnomAD
COSM3535756 361 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs766921120 363 I>N No ExAC
gnomAD
rs766921120 363 I>T No ExAC
gnomAD
rs971614881 365 P>L No TOPMed
gnomAD
rs923737137 365 P>S No TOPMed
gnomAD
rs923737137 365 P>T No TOPMed
gnomAD
rs374379148 366 C>F No ESP
ExAC
TOPMed
gnomAD
rs374379148 366 C>Y No ESP
ExAC
TOPMed
gnomAD
COSM4989668
rs377703099
367 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1295034727 368 H>Y No gnomAD
rs1381529020 370 L>F No gnomAD
TCGA novel 370 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1968080800 375 L>P No TOPMed
rs1968080800 375 L>Q No TOPMed
rs1321944719 376 A>T No gnomAD
rs768327321 377 A>P No ExAC
TOPMed
gnomAD
rs768327321 377 A>S No ExAC
TOPMed
gnomAD
COSM4829164 378 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1349195973 379 Q>* No gnomAD
rs1348916531 380 H>R No TOPMed
gnomAD
rs753138447 381 S>L No ExAC
gnomAD
rs1302998194 381 S>P No TOPMed
gnomAD
COSM4079203 385 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1310418136 385 T>N No TOPMed
gnomAD
rs1232691082 387 P>L No TOPMed
gnomAD
rs146735092 387 P>T No ESP
ExAC
TOPMed
gnomAD
rs757386289 388 F>L No ExAC
rs1599871855 388 F>S No Ensembl
rs374326666 389 C>Y No ESP
ExAC
TOPMed
gnomAD
rs751385301 390 R>C No ExAC
TOPMed
gnomAD
rs754761911
COSM3103385
390 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751385301 390 R>S No ExAC
TOPMed
gnomAD
rs1968106082 391 C>F No TOPMed
rs35457630 392 E>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1968106402 392 E>G No TOPMed
rs35457630 392 E>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1053116620 394 K>E No TOPMed
rs769396781 394 K>N No ExAC
gnomAD
rs1968106658 396 W>* No Ensembl
rs1239721663 396 W>* No gnomAD
TCGA novel 396 W>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1192911372 397 E>K No TOPMed
gnomAD
TCGA novel 397 E>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs777117772 398 A>D No ExAC
TOPMed
gnomAD
rs777117772 398 A>V No ExAC
TOPMed
gnomAD
rs749036591 399 V>M No ExAC
TOPMed
gnomAD
rs1968107345 400 S>N No Ensembl
COSM69047 400 S>V Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1425280513 401 I>V No gnomAD
rs1167660429 402 Y>* No TOPMed
gnomAD
rs1968107653 402 Y>C No TOPMed
rs1434461356 402 Y>H No gnomAD
rs1399153594 403 Q>P No gnomAD
rs3208856 405 H>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2122494882 405 H>P No Ensembl
rs3208856
VAR_018298
405 H>Y No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs368494441 406 G>C No ESP
ExAC
TOPMed
gnomAD
rs2054488140 406 G>D No Ensembl
rs368494441 406 G>R No ESP
ExAC
TOPMed
gnomAD
rs368494441 406 G>S No ESP
ExAC
TOPMed
gnomAD
rs1968108316 407 Q>E No TOPMed
rs772388756 408 A>P No ExAC
gnomAD
rs772388756 408 A>S No ExAC
gnomAD
rs1568563845 413 S>* No TOPMed
rs1568563845 413 S>L No TOPMed
rs17852620 413 S>P No Ensembl
rs1968108896 414 G>R No Ensembl
rs1293493860 416 S>R No TOPMed
gnomAD
rs764271266 416 S>T No ExAC
gnomAD
rs762183942 418 D>N No ExAC
gnomAD
rs765569181 419 Q>E No ExAC
TOPMed
gnomAD
rs750604085 419 Q>H No ExAC
gnomAD
rs1289790618 419 Q>R No TOPMed
rs754849774 420 E>V No ExAC
gnomAD
rs781113299 421 G>S No ExAC
gnomAD
rs994347051 423 E>K No TOPMed
gnomAD
rs1331839617 425 E>K No Ensembl
rs1172300265 425 E>V No TOPMed
gnomAD
rs1025942028 426 L>V No TOPMed
gnomAD
rs1404017582 427 G>R No gnomAD
rs1187731803 429 V>L No TOPMed
gnomAD
rs1187731803 429 V>M No TOPMed
gnomAD
COSM3892840 430 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1474012971 430 P>R No TOPMed
gnomAD
rs745556828 432 S>* No ExAC
TOPMed
gnomAD
rs1838178777 432 S>A No Ensembl
COSM5141243
COSM1394500
rs745556828
432 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs557733635 433 A>S No 1000Genomes
ExAC
TOPMed
gnomAD
COSM3535757 434 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs116023028 435 P>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777033769 436 L>F No ExAC
TOPMed
gnomAD
rs1265994312 437 P>R No gnomAD
rs1599872911 438 P>S No Ensembl
rs770035168 439 R>Q No ExAC
TOPMed
gnomAD
rs374048625 439 R>W No ESP
ExAC
TOPMed
gnomAD
rs1242181381 441 D>Y No gnomAD
rs1272578610 442 L>P No TOPMed
gnomAD
rs1447035976 443 P>S No TOPMed
rs1280385353 444 P>A No gnomAD
rs773422704 444 P>H No ExAC
TOPMed
gnomAD
rs773422704 444 P>R No ExAC
TOPMed
gnomAD
rs1968132604 445 R>K No Ensembl
rs766555920 445 R>Q Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1183446053 446 K>N No TOPMed
rs1386405463 446 K>R No TOPMed
gnomAD
rs763325522 447 P>L No ExAC
TOPMed
gnomAD
rs138476890 450 A>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138476890 450 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs997076042 451 Q>R No TOPMed
rs1968133016 452 P>S No TOPMed
rs1599872994 453 K>E No Ensembl
rs61750956 455 R>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1968269207 455 R>S No gnomAD
rs61750956 455 R>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762400110 456 L>P No ExAC
gnomAD
rs1050232407 458 K>R No TOPMed
gnomAD
rs1470815090 461 S>P No TOPMed
rs753128512 462 P>L No ExAC
gnomAD
COSM3535759 462 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1968269757 462 P>T No Ensembl
COSM5211983
COSM439764
463 P>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM6085374
COSM6085373
464 A>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs756481545 464 A>P No ExAC
gnomAD
rs756481545 464 A>T No ExAC
gnomAD
rs904426529 465 A>V No Ensembl
COSM998060 467 G>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1185174270 467 G>E No gnomAD
rs1968270219 469 Q>* No Ensembl
rs1968270267 469 Q>P No gnomAD
rs1968270267 469 Q>R No gnomAD
TCGA novel 470 D>missing Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1269858060 470 D>G No TOPMed
rs770969313 470 D>H No ExAC
TOPMed
gnomAD
rs746139762 472 A>T No ExAC
TOPMed
gnomAD
TCGA novel 473 P>missing Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1418606115 473 P>A No TOPMed
gnomAD
rs1298249941 473 P>L No gnomAD
rs1298249941 473 P>R No gnomAD
rs1288290895 475 A>C No TOPMed
COSM998062 475 A>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic

No associated diseases with Q9ULV8

6 regional properties for Q9ULV8

Type Name Position InterPro Accession
domain Zinc finger, RING-type 351 - 390 IPR001841
domain Adaptor protein Cbl, N-terminal helical 14 - 145 IPR003153
domain Adaptor protein Cbl, EF hand-like 149 - 232 IPR014741
domain Adaptor protein Cbl, SH2-like domain 226 - 322 IPR014742
conserved_site Zinc finger, RING-type, conserved site 366 - 375 IPR017907
domain Adaptor protein Cbl, PTB domain 7 - 321 IPR024159

Functions

Description
EC Number 2.3.2.27 Aminoacyltransferases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
membrane raft Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

7 GO annotations of molecular function

Name Definition
calcium ion binding Binding to a calcium ion (Ca2+).
epidermal growth factor receptor binding Binding to an epidermal growth factor receptor.
phosphotyrosine residue binding Binding to a phosphorylated tyrosine residue within a protein.
receptor tyrosine kinase binding Binding to a receptor that possesses protein tyrosine kinase activity.
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 protein ligase activity Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond
zinc ion binding Binding to a zinc ion (Zn).

10 GO annotations of biological process

Name Definition
cell surface receptor signaling pathway The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
negative regulation of epidermal growth factor receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of epidermal growth factor receptor signaling pathway activity.
negative regulation of epidermal growth factor-activated receptor activity Any process that stops, prevents, or reduces the frequency, rate or extent of EGF-activated receptor activity.
negative regulation of MAP kinase activity Any process that stops, prevents, or reduces the frequency, rate or extent of MAP kinase activity.
negative regulation of neuron apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons.
protein stabilization Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.
protein ubiquitination The process in which one or more ubiquitin groups are added to a protein.
response to glial cell derived neurotrophic factor Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glial cell derived neurotrophic factor stimulus.
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 The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin group, or multiple ubiquitin groups, to the protein.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q13191 CBLB E3 ubiquitin-protein ligase CBL-B Homo sapiens (Human) EV
P22681 CBL E3 ubiquitin-protein ligase CBL Homo sapiens (Human) EV
P22682 Cbl E3 ubiquitin-protein ligase CBL Mus musculus (Mouse) SS
Q3TTA7 Cblb E3 ubiquitin-protein ligase CBL-B Mus musculus (Mouse) SS
Q80XL1 Cblc E3 ubiquitin-protein ligase CBL-C Mus musculus (Mouse) SS
Q8K4S7 Cblb E3 ubiquitin-protein ligase CBL-B Rattus norvegicus (Rat) SS
G3V8H4 Cblc E3 ubiquitin-protein ligase CBL-C Rattus norvegicus (Rat) SS
10 20 30 40 50 60
MALAVAPWGR QWEEARALGR AVRMLQRLEE QCVDPRLSVS PPSLRDLLPR TAQLLREVAH
70 80 90 100 110 120
SRRAAGGGGP GGPGGSGDFL LIYLANLEAK SRQVAALLPP RGRRSANDEL FRAGSRLRRQ
130 140 150 160 170 180
LAKLAIIFSH MHAELHALFP GGKYCGHMYQ LTKAPAHTFW RESCGARCVL PWAEFESLLG
190 200 210 220 230 240
TCHPVEPGCT ALALRTTIDL TCSGHVSIFE FDVFTRLFQP WPTLLKNWQL LAVNHPGYMA
250 260 270 280 290 300
FLTYDEVQER LQACRDKPGS YIFRPSCTRL GQWAIGYVSS DGSILQTIPA NKPLSQVLLE
310 320 330 340 350 360
GQKDGFYLYP DGKTHNPDLT ELGQAEPQQR IHVSEEQLQL YWAMDSTFEL CKICAESNKD
370 380 390 400 410 420
VKIEPCGHLL CSCCLAAWQH SDSQTCPFCR CEIKGWEAVS IYQFHGQATA EDSGNSSDQE
430 440 450 460 470
GRELELGQVP LSAPPLPPRP DLPPRKPRNA QPKVRLLKGN SPPAALGPQD PAPA