Q9Y2U9

EV
Gene name
KLHDC2 (HCA33)
Protein name
Kelch domain-containing protein 2
Names
Hepatocellular carcinoma-associated antigen 33 , Host cell factor homolog LCP , Host cell factor-like protein 1 , HCLP-1
Species
Homo sapiens (Human)
KEGG Pathway
hsa:23588
EC number
Protein Class
KELCH DOMAIN-CONTAINING PROTEIN (PTHR46228)

Descriptions

The ubiquitin-proteasome system (UPS) is a major pathway regulating eukaryotic protein levels. Selectivity for UPS protein substrates, containing terminal destabilizing motifs (degrons), is largely governed by E3 ligases, which modify proteins with ubiquitin (UB) to target them for degradation.
KLHDC2 is a substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradation.
Autoinhibition of KLHDC2 involves the self-assembly of its C-terminal Gly-Ser motif, which mimics a C-degron and engages the substrate-binding domain of another protomer in the homotetramer. This autoinhibited state prevents the binding of diGly substrates, ensuring that only true substrates that can displace the C-degron mimic can bind and activate the E3 ligase for ubiquitylation.

Autoinhibitory domains (AIDs)

245-256 (C-terminal Gly-Ser motif) EV

Target domain

1-362 (Substrate binding domain)

Relief mechanism

Assay

Structural analysis, Deletion assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

11 structures for Q9Y2U9

Entry ID Method Resolution Chain Position Source
6DO3 X-ray 217 A A/B 1-362 PDB
6DO4 X-ray 220 A A/B 1-362 PDB
6DO5 X-ray 250 A A/B 1-362 PDB
8EBL X-ray 137 A A/B 15-361 PDB
8EBM X-ray 158 A A/B 15-361 PDB
8EBN X-ray 260 A A/B 1-406 PDB
8PIF X-ray 178 A A/B 1-362 PDB
8SGE X-ray 151 A A/B 2-362 PDB
8SGF X-ray 142 A A/B 2-362 PDB
8SH2 EM 374 A A/B/C/D 2-406 PDB
AF-Q9Y2U9-F1 Predicted AlphaFoldDB

377 variants for Q9Y2U9

Variant ID(s) Position Change Description Diseaes Association Provenance
rs550606699 3 D>A No 1000Genomes
TOPMed
rs1001996529 4 G>D No TOPMed
gnomAD
rs567760940 5 N>S No Ensembl
rs1478804062 5 N>Y No gnomAD
rs753125922 6 E>D No ExAC
TOPMed
gnomAD
rs150088126 7 D>N No ESP
ExAC
TOPMed
gnomAD
rs150088126 7 D>Y No ESP
ExAC
TOPMed
gnomAD
rs1389683161 9 R>L No gnomAD
rs756750831 9 R>W No ExAC
gnomAD
rs778293336 10 A>D No ExAC
gnomAD
rs778293336 10 A>G No ExAC
gnomAD
TCGA novel 10 A>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1328272560 10 A>T No gnomAD
rs745744033 11 D>A No ExAC
gnomAD
rs1170456704 11 D>E No TOPMed
gnomAD
rs1889590668 11 D>Y No Ensembl
rs779992690 12 D>E No ExAC
gnomAD
rs772196730 12 D>N No ExAC
gnomAD
rs1296931570 13 L>V No TOPMed
TCGA novel 14 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs769888968 14 P>S No ExAC
gnomAD
rs769888968 14 P>T No ExAC
gnomAD
rs773439951 15 G>A No ExAC
rs1420672502 16 P>A No gnomAD
rs1195229964 16 P>L No gnomAD
rs763085756 16 P>S No ExAC
gnomAD
rs1364334476 17 A>V No TOPMed
rs1267423571 18 F>L No gnomAD
rs770982230 19 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs770982230 19 E>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs376066947 21 Y>C No ESP
TOPMed
gnomAD
rs567508524 22 E>V No 1000Genomes
ExAC
gnomAD
rs536145050 23 S>F No 1000Genomes
ExAC
gnomAD
rs760030320 23 S>T No ExAC
gnomAD
rs1460911240 24 M>I No gnomAD
rs200182802 24 M>L No Ensembl
rs373123542 25 E>D No ESP
ExAC
TOPMed
gnomAD
rs1298447110 25 E>K No gnomAD
rs1401042434 26 L>F No gnomAD
rs1889592494 27 A>G No Ensembl
rs764398227 27 A>P No ExAC
gnomAD
rs2139785935 29 P>R No Ensembl
rs374423672 32 R>P No ESP
ExAC
TOPMed
rs1889592890 33 S>R No Ensembl
rs1370559157 33 S>T No gnomAD
rs1389067574 34 G>A No gnomAD
rs764793049 35 H>Q No ExAC
gnomAD
rs1889593001 35 H>R No Ensembl
rs1324526875 39 S>G No gnomAD
rs758382531 39 S>R No ExAC
TOPMed
gnomAD
rs1889593436 40 D>N No TOPMed
rs780192897 40 D>V No ExAC
gnomAD
rs746971566 41 G>R No ExAC
TOPMed
gnomAD
rs746971566 41 G>W No ExAC
TOPMed
gnomAD
rs754731731 42 R>C No ExAC
TOPMed
gnomAD
rs780860212 42 R>H No ExAC
TOPMed
gnomAD
rs754731731 42 R>S No ExAC
TOPMed
gnomAD
rs749510251 43 H>P No ExAC
gnomAD
rs1594696407 43 H>Y No gnomAD
rs1187965052 44 M>I No gnomAD
rs1889594003 44 M>L No gnomAD
rs1205305550 47 W>C No TOPMed
gnomAD
rs1274087202 47 W>S No TOPMed
gnomAD
rs1304348472 52 S>N No gnomAD
rs1315981999 53 N>T No gnomAD
rs1238696453 54 Q>E No gnomAD
rs1281479391 54 Q>H No gnomAD
rs1255005833 61 F>L No TOPMed
gnomAD
TCGA novel 62 Y>I Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1049486053 63 L>M No TOPMed
rs1462060270 67 E>A No TOPMed
rs1257471646 67 E>Q No gnomAD
rs747931785 68 L>V No ExAC
gnomAD
rs1889666703 69 W>* No TOPMed
rs1317831372 70 I>F No TOPMed
gnomAD
rs886316580 70 I>M No TOPMed
rs746120507 72 N>K No ExAC
TOPMed
rs1418712387 72 N>S No gnomAD
rs1594698597 73 M>I No Ensembl
rs772072730 73 M>R No ExAC
gnomAD
rs1312155085 74 E>D No gnomAD
rs775563424 74 E>G No ExAC
gnomAD
rs1396634767 74 E>K No gnomAD
rs1396634767 74 E>Q No gnomAD
rs1376728204 75 T>N No gnomAD
COSM1300633 77 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs528614772 79 K>R No ExAC
TOPMed
gnomAD
rs1889732878 80 K>N No Ensembl
COSM1640091 81 I>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs149327481 81 I>V No ESP
ExAC
TOPMed
gnomAD
rs2139793453 82 N>K No Ensembl
rs1467313551 82 N>S No gnomAD
rs1193311243 83 T>S No gnomAD
rs1289839668 84 E>* No TOPMed
gnomAD
rs1889733282 86 D>N No Ensembl
rs748724051 87 V>I No ExAC
TOPMed
gnomAD
rs1889733415 88 P>S No gnomAD
rs773766089 89 P>L No ExAC
gnomAD
rs770222216 89 P>S No ExAC
TOPMed
gnomAD
rs770222216 89 P>T No ExAC
TOPMed
gnomAD
rs770745242 91 M>L No ExAC
gnomAD
rs773889422 95 C>R No ExAC
gnomAD
rs758920902 97 V>M No ExAC
TOPMed
gnomAD
rs1889734195 100 D>E No Ensembl
rs1889734127 100 D>H No Ensembl
rs1889734258 103 L>P No gnomAD
TCGA novel 104 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1460586015 106 F>L No TOPMed
gnomAD
rs1460586015 106 F>V No TOPMed
gnomAD
rs1889734427 107 G>V No TOPMed
rs767084630 108 G>E No ExAC
rs370705810 109 H>Q No ESP
TOPMed
gnomAD
rs773862212 110 H>D No ExAC
gnomAD
COSM1562629 111 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3496132 111 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1240867441 116 N>H No TOPMed
gnomAD
COSM123996
rs760620829
 116 N>S upper_aerodigestive_tract [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs750638907 117 K>M No ExAC
TOPMed
gnomAD
rs1594700544 117 K>Q No TOPMed
rs1889804901 118 F>L No TOPMed
rs1889804836 118 F>S No gnomAD
rs1889804960 120 M>I No TOPMed
rs1485458215 121 L>M No Ensembl
rs1889805112 122 D>H No Ensembl
rs1285033797 123 S>L No TOPMed
gnomAD
rs1208898238 123 S>P No TOPMed
rs147396578 124 R>G No ESP
ExAC
TOPMed
gnomAD
rs1212890385 124 R>T No TOPMed
gnomAD
rs1212409451 126 T>I No TOPMed
rs1365110979 128 R>G No gnomAD
rs1468277263 128 R>S No gnomAD
rs202015978 131 Q>E No 1000Genomes
ExAC
gnomAD
rs1380052160 133 E>G No TOPMed
gnomAD
rs761550853 134 R>G No ExAC
TOPMed
gnomAD
rs765114426
COSM5065592
 134 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765114426 134 R>T No ExAC
TOPMed
gnomAD
rs138092134 135 I>M No ESP
ExAC
TOPMed
gnomAD
rs201169153 135 I>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs751669464 135 I>V No ExAC
TOPMed
gnomAD
rs1374187995 137 C>* No gnomAD
rs143664085 137 C>R No ESP
TOPMed
gnomAD
rs372949329 137 C>Y No ESP
ExAC
TOPMed
rs1889806700 140 I>T No Ensembl
rs1301588553 143 S>P No gnomAD
rs756665136 144 S>P No ExAC
TOPMed
gnomAD
rs1348272094 145 K>Q No TOPMed
gnomAD
rs1431341482 147 K>* No gnomAD
rs778374018 148 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1278025336 148 L>P No gnomAD
rs200121865 149 G>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs1344222459 149 G>C No TOPMed
gnomAD
rs200121865 149 G>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs1043318704 151 W>S No TOPMed
gnomAD
rs1252032631 152 V>L No TOPMed
gnomAD
rs1889807646 153 Y>* No TOPMed
rs148686027 153 Y>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs148686027 153 Y>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs1253265134 155 N>K No TOPMed
gnomAD
rs779142176 156 K>N No ExAC
gnomAD
rs1454937063 156 K>R No gnomAD
rs1375303426 158 I>V No TOPMed
gnomAD
rs750841923 159 F>C No ExAC
TOPMed
gnomAD
TCGA novel 164 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs779635917 167 P>H No ExAC
gnomAD
rs779635917 167 P>R No ExAC
gnomAD
rs1238135028 169 D>Y No TOPMed
rs768091844 170 K>E No ExAC
gnomAD
rs1026119207 171 V>I No TOPMed
gnomAD
rs1889812682 172 L>F No TOPMed
rs1889812740 173 G>R No TOPMed
rs550210714 174 T>S No 1000Genomes
ExAC
gnomAD
rs1218010218 175 F>S No TOPMed
gnomAD
rs142252224 177 F>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 177 F>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM257246 177 F>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 178 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 181 S>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1258864636 186 S>G No TOPMed
gnomAD
rs1486661072 187 H>N No gnomAD
rs1486661072 187 H>Y No gnomAD
rs1419883585 192 N>S No gnomAD
rs1255639887 192 N>Y No TOPMed
gnomAD
rs1025089146 193 D>H No TOPMed
gnomAD
rs770790600 194 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1889817669 195 V>I No Ensembl
rs1199094223 196 H>R No TOPMed
gnomAD
rs372362352 197 I>T No ESP
ExAC
gnomAD
COSM1562628 199 D>V Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs769040447 202 T>I No ExAC
TOPMed
gnomAD
rs769040447 202 T>R No ExAC
TOPMed
gnomAD
TCGA novel 202 T>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 204 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs571552228 206 S>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs761905311 208 P>S No ExAC
gnomAD
rs1488251443 209 I>V No TOPMed
rs1304469256 210 T>I No TOPMed
gnomAD
rs1287293380 211 T>A No TOPMed
gnomAD
rs1889818446 211 T>I No Ensembl
TCGA novel 212 G>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs536700771 213 K>E No TOPMed
gnomAD
rs559575961 214 A>T No 1000Genomes
ExAC
gnomAD
rs79654965 214 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368046908 217 P>L No ESP
TOPMed
gnomAD
rs1476942655 217 P>S No gnomAD
rs1007827129 218 R>C No TOPMed
gnomAD
rs1426623593 218 R>H No TOPMed
gnomAD
rs1426623593 218 R>P No TOPMed
gnomAD
rs746017180
COSM955958
 219 A>V endometrium [Cosmic] No cosmic curated
Ensembl
rs200590933 222 A>G No 1000Genomes
ExAC
gnomAD
rs371576792 223 C>F No ESP
ExAC
TOPMed
gnomAD
rs371576792 223 C>S No ESP
ExAC
TOPMed
gnomAD
rs1889845704 224 A>S No gnomAD
rs374840929 225 T>A No ESP
TOPMed
gnomAD
rs766932538 225 T>I No ExAC
TOPMed
gnomAD
rs766932538 225 T>S No ExAC
TOPMed
gnomAD
TCGA novel 226 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs774855901 226 V>L No ExAC
gnomAD
rs200791252 227 G>R No ExAC
TOPMed
gnomAD
rs1728785109 228 N>D No gnomAD
rs1216902275 228 N>S No TOPMed
gnomAD
rs1276375468 229 R>S No TOPMed
gnomAD
rs150056830 232 V>M No ESP
ExAC
TOPMed
gnomAD
rs1275319462 233 F>I No TOPMed
gnomAD
rs1889846581 233 F>L No TOPMed
rs1224155568 233 F>S No TOPMed
gnomAD
rs1275319462 233 F>V No TOPMed
gnomAD
rs987893530 235 G>S No Ensembl
rs1889846782 236 R>G No TOPMed
gnomAD
rs1220575245 237 Y>C No gnomAD
rs1470256411 238 R>Q No TOPMed
gnomAD
rs1354513101 239 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs751332279 240 A>S No Ensembl
TCGA novel 240 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs913052467 240 A>V No TOPMed
COSM416682 241 R>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1228020962 242 M>K No gnomAD
TCGA novel 242 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs141346391 247 Y>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1369927 247 Y>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1889849061 248 L>V No Ensembl
rs1407979895 250 L>P No gnomAD
rs1889849254 252 T>K No Ensembl
rs775758807 253 W>L No ExAC
TOPMed
gnomAD
rs1889849386 254 E>K No gnomAD
rs1262411886 254 E>V No gnomAD
rs1189448211 256 N>K No TOPMed
gnomAD
rs1889850100 257 E>A No Ensembl
rs75533958 258 L>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199569975 258 L>S No Ensembl
rs1889850157 258 L>V No Ensembl
rs143849307 259 I>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1889861024 260 P>L No TOPMed
rs764814495 261 Q>R No ExAC
gnomAD
rs1047298677 263 I>M No TOPMed
gnomAD
rs762974873 263 I>V No ExAC
gnomAD
rs1889861426 264 C>R No Ensembl
rs1889861576 266 V>A No gnomAD
rs751523224 267 G>D No ExAC
gnomAD
rs887358466 268 R>* No gnomAD
rs146439543 268 R>Q No ESP
ExAC
gnomAD
rs2139800137 269 S>* No Ensembl
rs781065213 269 S>C No ExAC
gnomAD
COSM698472 271 H>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 272 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs754038955 272 S>L No ExAC
gnomAD
rs149061228 273 L>V No ESP
ExAC
TOPMed
gnomAD
rs1385273352 277 S>A No TOPMed
rs959108807 279 D>N No Ensembl
rs1889862853 279 D>V No gnomAD
rs1290248605 281 L>V No TOPMed
gnomAD
rs780357463 282 F>L No ExAC
gnomAD
rs1402617445 286 G>V No gnomAD
rs1889863530 288 T>I No TOPMed
rs1594704936 288 T>P No Ensembl
rs1330984313 289 T>I No gnomAD
rs1394900325 290 D>E No gnomAD
rs747581102 291 K>N No ExAC
gnomAD
rs1321444983 292 Q>* No gnomAD
rs556394924 292 Q>H No TOPMed
gnomAD
COSM6140494 292 Q>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs768851631 294 L>V No ExAC
TOPMed
gnomAD
rs1382679774 295 S>N No gnomAD
rs1228147687 295 S>R No gnomAD
rs926863690 297 A>G No Ensembl
rs1889878090 297 A>T No Ensembl
rs896867240 299 T>I No TOPMed
rs757457030 299 T>S No ExAC
gnomAD
rs765385108 301 C>Y No ExAC
TOPMed
gnomAD
rs1029946120 302 I>M No TOPMed
gnomAD
rs1889878566 308 I>V No TOPMed
rs758368102 310 F>V No ExAC
gnomAD
rs372254011 310 F>Y No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1264021291 311 N>H No gnomAD
rs747449351 312 H>N No ExAC
gnomAD
rs1889879250 315 T>A No gnomAD
rs1266005678 315 T>I No TOPMed
gnomAD
rs1266005678 315 T>N No TOPMed
gnomAD
rs781684036 316 E>K No ExAC
TOPMed
gnomAD
TCGA novel 317 K>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1257034597 318 P>S No gnomAD
rs1889945768 321 W>R No Ensembl
TCGA novel 321 W>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1889945897 322 H>R No TOPMed
gnomAD
rs1448622342 323 T>K No gnomAD
rs967079042 324 A>P No gnomAD
rs967079042 324 A>S No gnomAD
rs967079042 324 A>T No gnomAD
rs374674284 325 C>F No ESP
TOPMed
rs374674284 325 C>Y No ESP
TOPMed
rs778335126 326 A>G No ExAC
gnomAD
rs1375210984 326 A>T No TOPMed
gnomAD
rs1453554261 327 S>R No TOPMed
gnomAD
rs1889947490 328 D>G No TOPMed
COSM1255944
rs748862075
 328 D>N oesophagus [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
COSM296363 331 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1037785996 333 I>T No TOPMed
gnomAD
rs2139805694 333 I>V No Ensembl
rs1566639048 334 V>I No Ensembl
rs1304467262 337 G>E No TOPMed
gnomAD
COSM955960 339 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1889948942 340 N>D No TOPMed
rs745327119 340 N>S No ExAC
gnomAD
rs771573917 343 L>H No ExAC
gnomAD
rs771573917 343 L>P No ExAC
gnomAD
rs1236100408 344 V>L No gnomAD
rs1393500891 347 R>* No gnomAD
rs775365639 347 R>K No ExAC
TOPMed
gnomAD
rs775365639
COSM553164
COSM6075751
 347 R>T lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1889950328 348 A>T No Ensembl
TCGA novel 353 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 353 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1889955080 354 I>T No Ensembl
rs746917299 356 I>V No ExAC
TOPMed
gnomAD
rs1263241038 359 V>L No gnomAD
rs1889955668 361 P>L No gnomAD
rs1478535502 363 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1168021700 364 L>P No gnomAD
rs768644389 365 V>I No ExAC
gnomAD
rs749817777 366 R>G No ExAC
TOPMed
gnomAD
rs201773460 366 R>Q No ExAC
TOPMed
gnomAD
rs749817777
COSM1677966
 366 R>W haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs1467922240 371 A>G No gnomAD
rs764112558 373 I>T No ExAC
TOPMed
gnomAD
rs777147049 374 C>S No ExAC
TOPMed
gnomAD
rs1284644547 375 F>I No gnomAD
rs1889973525 376 K>R No TOPMed
gnomAD
rs369093450 379 L>I No ESP
TOPMed
rs547708583 380 A>D No 1000Genomes
ExAC
gnomAD
rs547708583 380 A>V No 1000Genomes
ExAC
gnomAD
rs143008372 381 N>S No ESP
ExAC
TOPMed
gnomAD
rs143008372 381 N>T No ESP
ExAC
TOPMed
gnomAD
rs2139806989 383 W>* No Ensembl
rs570989300 383 W>R No 1000Genomes
ExAC
gnomAD
rs148198716 384 N>K No ESP
ExAC
TOPMed
gnomAD
rs1183365354 384 N>S No gnomAD
TCGA novel 385 C>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs761405170 386 L>F No Ensembl
rs1157426060 386 L>P No gnomAD
rs1889975253 388 K>R No Ensembl
rs1889975655 389 H>Q No TOPMed
gnomAD
rs373302126 391 L>F No ESP
ExAC
TOPMed
gnomAD
COSM955961 392 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs756075361 392 H>Y No ExAC
gnomAD
rs1040141896 393 S>G No TOPMed
rs1566639739 393 S>I No TOPMed
gnomAD
rs1566639739 393 S>N No TOPMed
gnomAD
rs1566639739 393 S>T No TOPMed
gnomAD
rs1889977384 395 N>T No TOPMed
rs2139807167 396 Q>E No Ensembl
rs1454571124 396 Q>P No TOPMed
rs1454571124 396 Q>R No TOPMed
rs1415360596 397 R>W No TOPMed
gnomAD
rs749035915 399 G>S No ExAC
gnomAD
rs1363337437 401 N>D No TOPMed
gnomAD
rs866525116 401 N>K No Ensembl
rs770853934 401 N>S No ExAC
gnomAD
rs747255867 406 S>F No ExAC
gnomAD

No associated diseases with Q9Y2U9

No regional properties for Q9Y2U9

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9Y2U9

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
PANTHER Family PTHR46228 KELCH DOMAIN-CONTAINING PROTEIN
PANTHER Subfamily PTHR46228:SF3 KELCH DOMAIN-CONTAINING PROTEIN 2
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
Cul2-RING ubiquitin ligase complex A ubiquitin ligase complex in which a cullin from the Cul2 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by an elongin-BC adaptor and a SOCS/BC box protein.
nuclear body Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
nuclear membrane Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

1 GO annotations of molecular function

Name Definition
ubiquitin ligase-substrate adaptor activity The binding activity of a molecule that brings together a ubiquitin ligase and its substrate. Usually mediated by F-box BTB/POZ domain proteins.

3 GO annotations of biological process

Name Definition
proteasome-mediated 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 ubiquitin, and mediated by the proteasome.
protein ubiquitination The process in which one or more ubiquitin groups are added to a protein.
ubiquitin-dependent protein catabolic process via the C-end degron rule pathway The chemical reactions and pathways resulting in the breakdown of a protein or peptide covalently tagged with ubiquitin, via the DesCEND (destruction via C-end degron) pathway. In the DesCEND pathway, C-terminal residues (C-end degrons) in substrates are recognized by Cul2-RING and Cul4-RING E3 ligases, whereupon the substrates are linked to ubiquitin and then delivered to the proteasome for degradation. C-end degrons can be present in full-length proteins, truncated proteins or proteolytically cleaved forms.

6 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5E9A7 KLHDC2 Kelch domain-containing protein 2 Bos taurus (Bovine) SS
Q8N7A1 KLHDC1 Kelch domain-containing protein 1 Homo sapiens (Human) SS
Q8N653 LZTR1 Leucine-zipper-like transcriptional regulator 1 Homo sapiens (Human) PR
Q80YG3 Klhdc1 Kelch domain-containing protein 1 Mus musculus (Mouse) SS
Q4G5Y1 Klhdc2 Kelch domain-containing protein 2 Mus musculus (Mouse) SS
Q3KRE6 Klhdc2 Kelch domain-containing protein 2 Rattus norvegicus (Rat) SS
10 20 30 40 50 60
MADGNEDLRA DDLPGPAFES YESMELACPA ERSGHVAVSD GRHMFVWGGY KSNQVRGLYD
70 80 90 100 110 120
FYLPREELWI YNMETGRWKK INTEGDVPPS MSGSCAVCVD RVLYLFGGHH SRGNTNKFYM
130 140 150 160 170 180
LDSRSTDRVL QWERIDCQGI PPSSKDKLGV WVYKNKLIFF GGYGYLPEDK VLGTFEFDET
190 200 210 220 230 240
SFWNSSHPRG WNDHVHILDT ETFTWSQPIT TGKAPSPRAA HACATVGNRG FVFGGRYRDA
250 260 270 280 290 300
RMNDLHYLNL DTWEWNELIP QGICPVGRSW HSLTPVSSDH LFLFGGFTTD KQPLSDAWTY
310 320 330 340 350 360
CISKNEWIQF NHPYTEKPRL WHTACASDEG EVIVFGGCAN NLLVHHRAAH SNEILIFSVQ
370 380 390 400
PKSLVRLSLE AVICFKEMLA NSWNCLPKHL LHSVNQRFGS NNTSGS