Q9Y233

PR
Gene name
PDE10A
Protein name
cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A
Names
Species
Homo sapiens (Human)
KEGG Pathway
hsa:10846
EC number
3.1.4.17: Phosphoric diester hydrolases
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-93 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

356 structures for Q9Y233

Entry ID Method Resolution Chain Position Source
2OUN X-ray 156 A A/B 439-766 PDB
2OUP X-ray 156 A A/B 439-766 PDB
2OUQ X-ray 190 A A/B 439-766 PDB
2OUR X-ray 145 A A/B 439-766 PDB
2OUS X-ray 145 A A/B 439-766 PDB
2OUU X-ray 152 A A/B 439-766 PDB
2OUV X-ray 156 A A/B 439-766 PDB
2OUY X-ray 190 A A/B 439-766 PDB
2WEY X-ray 280 A A/B 439-779 PDB
2Y0J X-ray 243 A A/B 432-764 PDB
2ZMF X-ray 210 A A/B 246-427 PDB
3SN7 X-ray 182 A A/B 439-779 PDB
3SNI X-ray 190 A A/B 439-779 PDB
3SNL X-ray 240 A A/B 439-779 PDB
3UI7 X-ray 228 A A/B 432-760 PDB
3UUO X-ray 211 A A/B 432-760 PDB
3WI2 X-ray 226 A A/B 439-779 PDB
3WS8 X-ray 260 A A/B 439-779 PDB
3WS9 X-ray 299 A A/B 439-779 PDB
3WYK X-ray 250 A A/B 442-779 PDB
3WYL X-ray 268 A A/B 442-779 PDB
3WYM X-ray 200 A A/B 442-779 PDB
4AEL X-ray 220 A A/B 439-779 PDB
4AJD X-ray 230 A A/D 439-764 PDB
4AJF X-ray 190 A A/D 439-764 PDB
4AJG X-ray 230 A A/D 439-764 PDB
4AJM X-ray 240 A A/D 439-764 PDB
4BBX X-ray 250 A A/B 443-769 PDB
4DDL X-ray 207 A A/B 442-779 PDB
4DFF X-ray 211 A A/B 432-779 PDB
4FCB X-ray 210 A A/B 439-779 PDB
4FCD X-ray 202 A A/B 439-779 PDB
4HEU X-ray 200 A A/B 442-759 PDB
4HF4 X-ray 200 A A/B 442-759 PDB
4LKQ X-ray 162 A A/B 439-779 PDB
4LLJ X-ray 156 A A/B 439-779 PDB
4LLK X-ray 155 A A/B 439-779 PDB
4LLP X-ray 175 A A/B 439-779 PDB
4LLX X-ray 175 A A/B 439-779 PDB
4LM0 X-ray 166 A A/B 439-779 PDB
4LM1 X-ray 160 A A/B 439-779 PDB
4LM2 X-ray 155 A A/B 439-779 PDB
4LM3 X-ray 149 A A/B 439-779 PDB
4LM4 X-ray 148 A A/B 439-779 PDB
4MRW X-ray 196 A A/B 439-779 PDB
4MRZ X-ray 158 A A/B 439-779 PDB
4MS0 X-ray 179 A A/B 439-779 PDB
4MSA X-ray 162 A A/B 439-779 PDB
4MSC X-ray 247 A A/B 439-779 PDB
4MSE X-ray 281 A A/B 439-779 PDB
4MSH X-ray 230 A A/B 439-779 PDB
4MSN X-ray 230 A A/B 439-779 PDB
4MUW X-ray 264 A A/B 442-779 PDB
4MVH X-ray 250 A A/B 442-779 PDB
4P0N X-ray 208 A A/B 442-779 PDB
4P1R X-ray 224 A A/B 442-779 PDB
4PHW X-ray 250 A A/B 442-779 PDB
4TPM X-ray 277 A A/B 442-779 PDB
4TPP X-ray 265 A A/B 442-779 PDB
4WN1 X-ray 313 A A/B 439-779 PDB
4XY2 X-ray 203 A A/B 439-779 PDB
4YQH X-ray 231 A A/B 439-759 PDB
4YS7 X-ray 250 A A/B 439-759 PDB
4ZO5 X-ray 250 A A/B 439-759 PDB
5AXP X-ray 195 A A/B 442-779 PDB
5AXQ X-ray 177 A A/B 442-779 PDB
5B4K X-ray 290 A A/B 442-779 PDB
5B4L X-ray 240 A A/B 442-779 PDB
5C1W X-ray 170 A A/B 439-779 PDB
5C28 X-ray 156 A A/B 439-779 PDB
5C29 X-ray 205 A A/B 439-779 PDB
5C2A X-ray 200 A A/B 439-779 PDB
5C2E X-ray 210 A A/B 439-779 PDB
5C2H X-ray 209 A A/B 439-779 PDB
5DH4 X-ray 220 A A/B 439-779 PDB
5DH5 X-ray 200 A A/B 439-779 PDB
5EDE X-ray 220 A PDB
5EDG X-ray 230 A A/B/C/D 447-760 PDB
5EDH X-ray 203 A A/B/C/D 448-760 PDB
5EDI X-ray 220 A A/B/C/D 442-760 PDB
5I2R X-ray 250 A A/B/C/D 447-763 PDB
5K9R X-ray 270 A A/B 448-759 PDB
5SDU X-ray 215 A A/B/C/D 439-779 PDB
5SDV X-ray 215 A A/B/C/D 439-779 PDB
5SDW X-ray 235 A A/B/C/D 439-779 PDB
5SDX X-ray 219 A A/B/C/D 439-779 PDB
5SDY X-ray 220 A A 439-779 PDB
5SDZ X-ray 235 A A/B/C/D 439-779 PDB
5SE0 X-ray 201 A A/B/C/D 439-779 PDB
5SE1 X-ray 230 A A 439-779 PDB
5SE2 X-ray 220 A A/B/C/D 439-779 PDB
5SE3 X-ray 214 A A/B/C/D 439-779 PDB
5SE4 X-ray 250 A A/B/C/D 439-779 PDB
5SE5 X-ray 208 A A/B/C/D 439-779 PDB
5SE6 X-ray 195 A A/B/C/D 439-779 PDB
5SE7 X-ray 217 A A/B/C/D 439-779 PDB
5SE8 X-ray 199 A A/B/C/D 439-779 PDB
5SE9 X-ray 194 A A/B/C/D 439-779 PDB
5SEA X-ray 200 A A/B/C/D 439-779 PDB
5SEB X-ray 228 A A/B/C/D 439-779 PDB
5SEC X-ray 203 A A/B/C/D 439-779 PDB
5SED X-ray 232 A A/B/C/D 439-779 PDB
5SEE X-ray 235 A A 439-779 PDB
5SEF X-ray 229 A A/B/C/D 439-779 PDB
5SEG X-ray 229 A A/B/C/D 439-779 PDB
5SEH X-ray 210 A A/B/C/D 439-779 PDB
5SEI X-ray 237 A A/B/C/D 439-779 PDB
5SEJ X-ray 244 A A/B/C/D 439-779 PDB
5SEK X-ray 215 A A/B/C/D 439-779 PDB
5SEL X-ray 220 A A/B/C/D 439-779 PDB
5SEM X-ray 210 A A/B/C/D 439-779 PDB
5SEN X-ray 204 A A/B/C/D 439-779 PDB
5SEO X-ray 210 A A/B/C/D 439-779 PDB
5SEP X-ray 210 A A/B/C/D 439-779 PDB
5SEQ X-ray 218 A A/B/C/D 439-779 PDB
5SER X-ray 225 A A/B/C/D 439-779 PDB
5SES X-ray 211 A A/B/C/D 439-779 PDB
5SET X-ray 240 A A 439-779 PDB
5SEU X-ray 209 A A/B/C/D 439-779 PDB
5SEV X-ray 231 A A/B/C/D 439-779 PDB
5SEW X-ray 230 A A 439-779 PDB
5SEX X-ray 199 A A/B/C/D 439-779 PDB
5SEY X-ray 229 A A/B/C/D 439-779 PDB
5SEZ X-ray 199 A A/B/C/D 439-779 PDB
5SF0 X-ray 210 A A/B/C/D 439-779 PDB
5SF1 X-ray 211 A A/B/C/D 439-779 PDB
5SF2 X-ray 202 A A 439-779 PDB
5SF3 X-ray 215 A A/B/C/D 439-779 PDB
5SF4 X-ray 225 A A/B/C/D 439-779 PDB
5SF5 X-ray 198 A A/B/C/D 439-779 PDB
5SF6 X-ray 203 A A/B/C/D 439-779 PDB
5SF7 X-ray 208 A A/B/C/D 439-779 PDB
5SF8 X-ray 215 A A/B/C/D 439-779 PDB
5SF9 X-ray 237 A A/B/C/D 439-779 PDB
5SFA X-ray 232 A A/B/C/D 439-779 PDB
5SFB X-ray 198 A A/B/C/D 439-779 PDB
5SFC X-ray 218 A A/B/C/D 439-779 PDB
5SFD X-ray 205 A A/B/C/D 439-779 PDB
5SFE X-ray 186 A A/B/C/D 439-779 PDB
5SFF X-ray 216 A A/B/C/D 439-779 PDB
5SFG X-ray 231 A A/B/C/D 439-779 PDB
5SFH X-ray 229 A A/B/C/D 439-779 PDB
5SFI X-ray 201 A A/B/C/D 439-779 PDB
5SFJ X-ray 241 A A/B/C/D 439-779 PDB
5SFK X-ray 233 A A/B/C/D 439-779 PDB
5SFL X-ray 213 A A/B/C/D 439-779 PDB
5SFM X-ray 216 A A/B/C/D 439-779 PDB
5SFN X-ray 202 A A/B/C/D 439-779 PDB
5SFO X-ray 196 A A/B/C/D 439-779 PDB
5SFP X-ray 200 A A/B/C/D 439-779 PDB
5SFQ X-ray 221 A A/B/C/D 439-779 PDB
5SFR X-ray 204 A A/B/C/D 439-779 PDB
5SFS X-ray 224 A A/B/C/D 439-779 PDB
5SFT X-ray 232 A A/B/C/D 439-779 PDB
5SFU X-ray 240 A A/B/C/D 439-779 PDB
5SFV X-ray 241 A A/B/C/D 439-779 PDB
5SFW X-ray 215 A A/B/C/D 439-779 PDB
5SFX X-ray 204 A A/B/C/D 439-779 PDB
5SFY X-ray 208 A A/B/C/D 439-779 PDB
5SFZ X-ray 216 A A/B/C/D 439-779 PDB
5SG0 X-ray 206 A A/B/C/D 439-779 PDB
5SG1 X-ray 241 A A/B/C/D 439-779 PDB
5SG2 X-ray 215 A A/B/C/D 439-779 PDB
5SG3 X-ray 198 A A/B/C/D 439-779 PDB
5SG4 X-ray 230 A A 439-779 PDB
5SG5 X-ray 217 A A/B/C/D 439-779 PDB
5SG6 X-ray 196 A A/B/C/D 439-779 PDB
5SG7 X-ray 230 A A/B/C/D 439-779 PDB
5SG8 X-ray 216 A A/B/C/D 439-779 PDB
5SG9 X-ray 213 A A/B/C/D 439-779 PDB
5SGB X-ray 239 A A/B/C/D 439-779 PDB
5SGC X-ray 209 A A/B/C/D 439-779 PDB
5SGD X-ray 254 A A/B/C/D 439-779 PDB
5SGE X-ray 220 A A/B/C/D 439-779 PDB
5SGF X-ray 230 A A/B/C/D 439-779 PDB
5SGG X-ray 209 A A/B/C/D 439-779 PDB
5SGH X-ray 197 A A/B/C/D 439-779 PDB
5SGI X-ray 197 A A/B/C/D 439-779 PDB
5SGJ X-ray 266 A A/B/C/D 439-779 PDB
5SGK X-ray 213 A A/B/C/D 439-779 PDB
5SGL X-ray 228 A A/B/C/D 439-779 PDB
5SGM X-ray 220 A A 439-779 PDB
5SGN X-ray 207 A A/B/C/D 439-779 PDB
5SGO X-ray 230 A A/B/C/D 439-779 PDB
5SGP X-ray 195 A A/B/C/D 439-779 PDB
5SGQ X-ray 204 A A/B/C/D 439-779 PDB
5SGR X-ray 204 A A/B/C/D 439-779 PDB
5SGS X-ray 203 A A/B/C/D 439-779 PDB
5SGT X-ray 226 A A/B/C/D 439-779 PDB
5SGU X-ray 214 A A/B/C/D 439-779 PDB
5SGV X-ray 200 A A/B/C/D 439-779 PDB
5SGW X-ray 190 A A/B/C/D 439-779 PDB
5SGX X-ray 193 A A/B/C/D 439-779 PDB
5SGY X-ray 236 A A/B/C/D 439-779 PDB
5SGZ X-ray 220 A A/B/C/D 439-779 PDB
5SH0 X-ray 229 A A/B/C/D 439-779 PDB
5SH1 X-ray 220 A A/B/C/D 439-779 PDB
5SH2 X-ray 219 A A/B/C/D 439-779 PDB
5SH3 X-ray 198 A A/B/C/D 439-779 PDB
5SH4 X-ray 222 A A/B/C/D 439-779 PDB
5SH5 X-ray 230 A A/B/C/D 439-779 PDB
5SH6 X-ray 198 A A/B/C/D 439-779 PDB
5SH7 X-ray 266 A A/B/C/D 439-779 PDB
5SH8 X-ray 200 A A/B/C/D 439-779 PDB
5SH9 X-ray 206 A A/B/C/D 439-779 PDB
5SHA X-ray 224 A A/B/C/D 439-779 PDB
5SHB X-ray 195 A A/B/C/D 439-779 PDB
5SHC X-ray 233 A A/B/C/D 439-779 PDB
5SHD X-ray 260 A A/B/C/D 439-779 PDB
5SHE X-ray 219 A A/B/C/D 439-779 PDB
5SHF X-ray 228 A A/B/C/D 439-779 PDB
5SHG X-ray 212 A A/B/C/D 439-779 PDB
5SHH X-ray 215 A A/B/C/D 439-779 PDB
5SHI X-ray 210 A A/B/C/D 439-779 PDB
5SHJ X-ray 230 A A/B/C/D 439-779 PDB
5SHK X-ray 200 A A/B/C/D 439-779 PDB
5SHL X-ray 235 A A/B/C/D 439-779 PDB
5SHM X-ray 226 A A/B/C/D 439-779 PDB
5SHN X-ray 203 A A/B/C/D 439-779 PDB
5SHO X-ray 190 A A 439-779 PDB
5SHP X-ray 218 A A/B/C/D 439-779 PDB
5SHQ X-ray 208 A A/B/C/D 439-779 PDB
5SHR X-ray 198 A A/B/C/D 439-779 PDB
5SHS X-ray 230 A A/B/C/D 439-779 PDB
5SHT X-ray 227 A A/B/C/D 439-779 PDB
5SHU X-ray 198 A A/B/C/D 439-779 PDB
5SHV X-ray 195 A A/B/C/D 439-779 PDB
5SHW X-ray 219 A A/B/C/D 439-779 PDB
5SHX X-ray 216 A A/B/C/D 439-779 PDB
5SHY X-ray 230 A A 439-779 PDB
5SHZ X-ray 255 A A/B/C/D 439-779 PDB
5SI0 X-ray 227 A A/B/C/D 439-779 PDB
5SI1 X-ray 175 A A 439-779 PDB
5SI2 X-ray 240 A A/B/C/D 439-779 PDB
5SI3 X-ray 240 A A/B/C/D 439-779 PDB
5SI4 X-ray 239 A A/B/C/D 439-779 PDB
5SI5 X-ray 227 A A/B/C/D 439-779 PDB
5SI6 X-ray 200 A A/B/C/D 439-779 PDB
5SI7 X-ray 210 A A/B/C/D 439-779 PDB
5SI8 X-ray 210 A A/B/C/D 439-779 PDB
5SI9 X-ray 201 A A/B/C/D 439-779 PDB
5SIA X-ray 227 A A/B/C/D 439-779 PDB
5SIB X-ray 254 A A/B/C/D 439-779 PDB
5SID X-ray 198 A A/B/C/D 439-779 PDB
5SIE X-ray 212 A A/B/C/D 439-779 PDB
5SIF X-ray 220 A A/B/C/D 439-779 PDB
5SIG X-ray 203 A A/B/C/D 439-779 PDB
5SIH X-ray 190 A A/B/C/D 439-779 PDB
5SII X-ray 218 A A/B/C/D 439-779 PDB
5SIJ X-ray 255 A A/B/C/D 439-779 PDB
5SIK X-ray 210 A A/B/C/D 439-779 PDB
5SIL X-ray 250 A A 439-779 PDB
5SIM X-ray 175 A A 439-779 PDB
5SIN X-ray 240 A A/B/C/D 439-779 PDB
5SIO X-ray 220 A A/B/C/D 439-779 PDB
5SIP X-ray 203 A A/B/C/D 439-779 PDB
5SIQ X-ray 197 A A/B/C/D 439-779 PDB
5SIR X-ray 250 A A/B/C/D 439-779 PDB
5SIS X-ray 185 A A 439-779 PDB
5SIT X-ray 199 A A/B/C/D 439-779 PDB
5SIU X-ray 201 A A/B/C/D 439-779 PDB
5SIV X-ray 220 A A/B/C/D 439-779 PDB
5SIW X-ray 213 A A/B/C/D 439-779 PDB
5SIX X-ray 229 A A 439-779 PDB
5SIY X-ray 203 A A/B/C/D 439-779 PDB
5SIZ X-ray 210 A A/B/C/D 439-779 PDB
5SJ0 X-ray 235 A A/B/C/D 439-779 PDB
5SJ1 X-ray 216 A A/B/C/D 439-779 PDB
5SJ2 X-ray 199 A A/B/C/D 439-779 PDB
5SJ3 X-ray 210 A A/B/C/D 439-779 PDB
5SJ4 X-ray 277 A A/B/C/D 439-779 PDB
5SJ5 X-ray 249 A A/B/C/D 439-779 PDB
5SJ6 X-ray 215 A A/B/C/D 439-779 PDB
5SJ7 X-ray 214 A A/B/C/D 439-779 PDB
5SJ8 X-ray 249 A A/B/C/D 439-779 PDB
5SJ9 X-ray 239 A A/B/C/D 439-779 PDB
5SJA X-ray 213 A A/B/C/D 439-779 PDB
5SJB X-ray 220 A A/B/C/D 439-779 PDB
5SJC X-ray 208 A A 439-779 PDB
5SJD X-ray 216 A A/B/C/D 439-779 PDB
5SJE X-ray 210 A A/B/C/D 439-779 PDB
5SJF X-ray 205 A A/B/C/D 439-779 PDB
5SJG X-ray 197 A A/B/C/D 439-779 PDB
5SJH X-ray 210 A A/B/C/D 439-779 PDB
5SJI X-ray 198 A A/B/C/D 439-779 PDB
5SJJ X-ray 210 A A/B/C/D 439-779 PDB
5SJK X-ray 224 A A/B/C/D 439-779 PDB
5SJL X-ray 264 A A/B/C/D 439-779 PDB
5SJM X-ray 230 A A/B/C/D 439-779 PDB
5SJN X-ray 205 A A/B/C/D 439-779 PDB
5SJO X-ray 210 A A/B/C/D 439-779 PDB
5SJP X-ray 225 A A/B/C/D 439-779 PDB
5SJQ X-ray 212 A A/B/C/D 439-779 PDB
5SJR X-ray 210 A A/B/C/D 439-779 PDB
5SJS X-ray 270 A A/B/C/D 439-779 PDB
5SJT X-ray 210 A A/B/C/D 439-779 PDB
5SJU X-ray 197 A A/B/C/D 439-779 PDB
5SJV X-ray 194 A A/B/C/D 439-779 PDB
5SJW X-ray 195 A A/B/C/D 439-779 PDB
5SJX X-ray 206 A A/B/C/D 439-779 PDB
5SJY X-ray 220 A A/B/C/D 439-779 PDB
5SJZ X-ray 219 A A/B/C/D 439-779 PDB
5SK0 X-ray 202 A A/B/C/D 439-779 PDB
5SK1 X-ray 230 A A/B/C/D 439-779 PDB
5SK2 X-ray 214 A A/B/C/D 439-779 PDB
5SK3 X-ray 232 A A/B/C/D 439-779 PDB
5SK4 X-ray 200 A A/B/C/D 439-779 PDB
5SK5 X-ray 195 A A/B/C/D 439-779 PDB
5SK6 X-ray 220 A A/B/C/D 439-779 PDB
5SK7 X-ray 229 A A/B/C/D 439-779 PDB
5SK8 X-ray 230 A A 439-779 PDB
5SK9 X-ray 282 A A/B/C/D 439-779 PDB
5SKA X-ray 221 A A/B/C/D 439-779 PDB
5SKB X-ray 235 A A/B/C/D 439-779 PDB
5SKC X-ray 260 A A/B/C/D 439-779 PDB
5SKD X-ray 230 A A/B/C/D 439-779 PDB
5SKE X-ray 220 A A/B/C/D 439-779 PDB
5SKF X-ray 210 A A/B/C/D 439-779 PDB
5SKG X-ray 203 A A/B/C/D 439-779 PDB
5SKH X-ray 210 A A/B/C/D 439-779 PDB
5SKI X-ray 216 A A/B/C/D 439-779 PDB
5SKJ X-ray 274 A A/B/C/D 439-779 PDB
5SKK X-ray 215 A A/B/C/D 439-779 PDB
5SKL X-ray 220 A A/B/C/D 439-779 PDB
5SKM X-ray 191 A A/B/C/D 439-779 PDB
5SKN X-ray 190 A A/B/C/D 439-779 PDB
5SKO X-ray 210 A A 439-779 PDB
5SKP X-ray 200 A A/B/C/D 439-779 PDB
5SKQ X-ray 200 A A/B/C/D 439-779 PDB
5SKR X-ray 199 A A/B/C/D 439-779 PDB
5SKS X-ray 231 A A/B/C/D 439-779 PDB
5SKT X-ray 202 A A/B/C/D 439-779 PDB
5SKU X-ray 220 A A/B/C/D 439-779 PDB
5SKV X-ray 260 A A/B/C/D 439-779 PDB
5UWF X-ray 187 A C/D 439-779 PDB
5XUI X-ray 277 A A/B 439-779 PDB
5XUJ X-ray 244 A A/B 439-779 PDB
5ZNL X-ray 280 A A/B 439-760 PDB
6IJH X-ray 260 A A/B 439-779 PDB
6IJI X-ray 270 A A/B 439-760 PDB
6KDX X-ray 244 A A/B 439-779 PDB
6KDZ X-ray 310 A A/B 439-779 PDB
6KE0 X-ray 295 A A/B 439-779 PDB
6KO0 X-ray 260 A A/B 439-759 PDB
6KO1 X-ray 270 A A/B 439-759 PDB
6KZE X-ray 250 A A/B 439-760 PDB
6MSA X-ray 206 A A/B 439-766 PDB
6MSC X-ray 236 A A/B 439-766 PDB
7BPI X-ray 240 A A/B 439-760 PDB
7QPF X-ray 170 A A/B 432-764 PDB
7QPM X-ray 240 A A/B 432-764 PDB
7QPQ X-ray 220 A A/B 432-764 PDB
7QPV X-ray 230 A A/B 432-764 PDB
7QQ4 X-ray 245 A A/B 432-764 PDB
8DI4 X-ray 202 A A/B 439-779 PDB
AF-Q9Y233-F1 Predicted AlphaFoldDB

7 variants for Q9Y233

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000210940
rs778899140
CA4092525
RCV001003963
VAR_076798
 97 Y>C Global developmental delay Infantile-onset generalized dyskinesia with orofacial involvement IOLOD; decreased protein abundance [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
dbSNP
gnomAD
VAR_076799
CA10576039
RCV000210942
rs875989839
 106 A>P Infantile-onset generalized dyskinesia with orofacial involvement IOLOD; decreased protein abundance [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000210939
rs875989841
CA10576041
RCV001853397
VAR_076800
 290 F>L Striatal degeneration, autosomal dominant 2 ADSD2; no effect on basal 3',5'-cyclic-nucleotide phosphodiesterase activity; the mutation severely disrupts the stimulatory effect on the enzyme activity mediated by cAMP binding [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV001853396
VAR_076801
rs875989840
RCV000210938
CA10576040
 324 F>L Striatal degeneration, autosomal dominant 2 ADSD2; no effect on basal 3',5'-cyclic-nucleotide phosphodiesterase activity; the mutation severely disrupts the stimulatory effect on the enzyme activity mediated by cAMP binding [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_008797 303 L>P No UniProt
VAR_047822
CA151299116
rs2224252
 706 R>K No ClinGen
UniProt
Ensembl
dbSNP
CA151299110
rs2860112
VAR_047823
 707 D>N No ClinGen
UniProt
Ensembl
dbSNP

2 associated diseases with Q9Y233

[MIM: 616921]: Dyskinesia, limb and orofacial, infantile-onset (IOLOD)

An autosomal recessive, early-onset hyperkinetic movement disorder characterized by axial hypotonia, dyskinesia of the limbs and trunk, orofacial dyskinesia, drooling, and dysarthria. The severity of the hyperkinesis is variable. {ECO:0000269|PubMed:27058446}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 616922]: Striatal degeneration, autosomal dominant 2 (ADSD2)

An autosomal dominant disorder characterized by striatal degeneration and dysfunction of basal ganglia, resulting in hyperkinesis. {ECO:0000269|PubMed:27058447}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An autosomal recessive, early-onset hyperkinetic movement disorder characterized by axial hypotonia, dyskinesia of the limbs and trunk, orofacial dyskinesia, drooling, and dysarthria. The severity of the hyperkinesis is variable. {ECO:0000269|PubMed:27058446}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • An autosomal dominant disorder characterized by striatal degeneration and dysfunction of basal ganglia, resulting in hyperkinesis. {ECO:0000269|PubMed:27058447}. Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for Q9Y233

Type Name Position InterPro Accession
domain Death domain 14 - 106 IPR000488
domain Protein kinase domain 165 - 452 IPR000719
domain Interleukin-1 receptor-associated kinase 3, pseudokinase domain 171 - 446 IPR042698
domain IRAK3, death domain 15 - 103 IPR042747

Functions

Description
EC Number 3.1.4.17 Phosphoric diester hydrolases
Subcellular Localization
  • Cytoplasm, cytosol
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

7 GO annotations of molecular function

Name Definition
3',5'-cyclic-AMP phosphodiesterase activity Catalysis of the reaction: 3',5'-cyclic AMP + H2O = AMP + H+.
3',5'-cyclic-GMP phosphodiesterase activity Catalysis of the reaction: 3',5'-cyclic GMP + H2O = GMP + H+.
3',5'-cyclic-nucleotide phosphodiesterase activity Catalysis of the reaction: a nucleoside 3',5'-cyclic phosphate + H2O = a nucleoside 5'-phosphate.
cAMP binding Binding to cAMP, the nucleotide cyclic AMP (adenosine 3',5'-cyclophosphate).
cGMP binding Binding to cGMP, the nucleotide cyclic GMP (guanosine 3',5'-cyclophosphate).
cGMP-stimulated cyclic-nucleotide phosphodiesterase activity Catalysis of the reaction: nucleoside 3',5'-cyclic phosphate + H2O = nucleoside 5'-phosphate; catalytic activity is increased in the presence of cGMP.
metal ion binding Binding to a metal ion.

4 GO annotations of biological process

Name Definition
cAMP catabolic process The chemical reactions and pathways resulting in the breakdown of the nucleotide cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate).
cGMP catabolic process The chemical reactions and pathways resulting in the breakdown of cyclic GMP, guanosine 3',5'-phosphate.
negative regulation of cGMP-mediated signaling Any process that decreases the rate, frequency or extent of cGMP-mediated signaling.
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.

34 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q28156 PDE5A cGMP-specific 3',5'-cyclic phosphodiesterase Bos taurus (Bovine) SS
P23439 PDE6B Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta Bos taurus (Bovine) PR
P52731 PDE6C Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' Gallus gallus (Chicken) PR
H2QL32 PDE9A High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A Pan troglodytes (Chimpanzee) PR
Q9VJ79 Pde11 Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11 Drosophila melanogaster (Fruit fly) SS
Q9W4T4 dnc 3',5'-cyclic-AMP phosphodiesterase, isoform I Drosophila melanogaster (Fruit fly) SS
O60658 PDE8A High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A Homo sapiens (Human) PR
P27815 PDE4A cAMP-specific 3',5'-cyclic phosphodiesterase 4A Homo sapiens (Human) EV SS
Q07343 PDE4B cAMP-specific 3',5'-cyclic phosphodiesterase 4B Homo sapiens (Human) EV SS
Q08493 PDE4C cAMP-specific 3',5'-cyclic phosphodiesterase 4C Homo sapiens (Human) EV SS
Q08499 PDE4D cAMP-specific 3',5'-cyclic phosphodiesterase 4D Homo sapiens (Human) EV
O76083 PDE9A High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A Homo sapiens (Human) PR
P54750 PDE1A Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A Homo sapiens (Human) PR
Q9HCR9 PDE11A Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A Homo sapiens (Human) SS
P35913 PDE6B Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta Homo sapiens (Human) PR
P51160 PDE6C Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' Homo sapiens (Human) PR
O76074 PDE5A cGMP-specific 3',5'-cyclic phosphodiesterase Homo sapiens (Human) EV
P23440 Pde6b Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta Mus musculus (Mouse) PR
O89084 Pde4a 3',5'-cyclic-AMP phosphodiesterase 4A Mus musculus (Mouse) SS
O70628 Pde9a High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A Mus musculus (Mouse) PR
Q8CG03 Pde5a cGMP-specific 3',5'-cyclic phosphodiesterase Mus musculus (Mouse) SS
P0C1Q2 Pde11a Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A Mus musculus (Mouse) SS
Q3UEI1 Pde4c cAMP-specific 3',5'-cyclic phosphodiesterase 4C Mus musculus (Mouse) PR
Q01063 Pde4d 3',5'-cyclic-AMP phosphodiesterase 4D Mus musculus (Mouse) SS
Q8CA95 Pde10a cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A Mus musculus (Mouse) PR
Q8QZV1 Pde9a High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A Rattus norvegicus (Rat) PR
P14646 Pde4b cAMP-specific 3',5'-cyclic phosphodiesterase 4B Rattus norvegicus (Rat) SS
Q8VID6 Pde11a Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A Rattus norvegicus (Rat) SS
O54735 Pde5a cGMP-specific 3',5'-cyclic phosphodiesterase Rattus norvegicus (Rat) SS
P14644 Pde4c cAMP-specific 3',5'-cyclic phosphodiesterase 4C Rattus norvegicus (Rat) PR
P54748 Pde4a 3',5'-cyclic-AMP phosphodiesterase 4A Rattus norvegicus (Rat) SS
P14270 Pde4d cAMP-specific 3',5'-cyclic phosphodiesterase 4D Rattus norvegicus (Rat) PR
Q9QYJ6 Pde10a cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A Rattus norvegicus (Rat) PR
Q22000 pde-4 Probable 3',5'-cyclic phosphodiesterase pde-4 Caenorhabditis elegans PR
10 20 30 40 50 60
MRIEERKSQH LTGLTDEKVK AYLSLHPQVL DEFVSESVSA ETVEKWLKRK NNKSEDESAP
70 80 90 100 110 120
KEVSRYQDTN MQGVVYELNS YIEQRLDTGG DNQLLLYELS SIIKIATKAD GFALYFLGEC
130 140 150 160 170 180
NNSLCIFTPP GIKEGKPRLI PAGPITQGTT VSAYVAKSRK TLLVEDILGD ERFPRGTGLE
190 200 210 220 230 240
SGTRIQSVLC LPIVTAIGDL IGILELYRHW GKEAFCLSHQ EVATANLAWA SVAIHQVQVC
250 260 270 280 290 300
RGLAKQTELN DFLLDVSKTY FDNIVAIDSL LEHIMIYAKN LVNADRCALF QVDHKNKELY
310 320 330 340 350 360
SDLFDIGEEK EGKPVFKKTK EIRFSIEKGI AGQVARTGEV LNIPDAYADP RFNREVDLYT
370 380 390 400 410 420
GYTTRNILCM PIVSRGSVIG VVQMVNKISG SAFSKTDENN FKMFAVFCAL ALHCANMYHR
430 440 450 460 470 480
IRHSECIYRV TMEKLSYHSI CTSEEWQGLM QFTLPVRLCK EIELFHFDIG PFENMWPGIF
490 500 510 520 530 540
VYMVHRSCGT SCFELEKLCR FIMSVKKNYR RVPYHNWKHA VTVAHCMYAI LQNNHTLFTD
550 560 570 580 590 600
LERKGLLIAC LCHDLDHRGF SNSYLQKFDH PLAALYSTST MEQHHFSQTV SILQLEGHNI
610 620 630 640 650 660
FSTLSSSEYE QVLEIIRKAI IATDLALYFG NRKQLEEMYQ TGSLNLNNQS HRDRVIGLMM
670 680 690 700 710 720
TACDLCSVTK LWPVTKLTAN DIYAEFWAEG DEMKKLGIQP IPMMDRDKKD EVPQGQLGFY
730 740 750 760 770
NAVAIPCYTT LTQILPPTEP LLKACRDNLS QWEKVIRGEE TATWISSPSV AQKAAASED