P63092

PR
Gene name
GNAS (GNAS1, GSP)
Protein name
Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Names
Adenylate cyclase-stimulating G alpha protein
Species
Homo sapiens (Human)
KEGG Pathway
hsa:2778
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-150 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

226 structures for P63092

Entry ID Method Resolution Chain Position Source
5G53 X-ray 340 A PDB
5UZ7 EM 410 A A 1-394 PDB
5VAI EM 410 A A 1-394 PDB
6AU6 X-ray 170 A A 7-394 PDB
6B3J EM 330 A A 1-394 PDB
6E3Y EM 330 A A 1-394 PDB
6E67 X-ray 370 A A/B 381-393 PDB
6EG8 X-ray 280 A I/J/K/L 4-394 PDB
6GDG EM 411 A PDB
6LI3 EM 332 A PDB
6LMK EM 370 A A 1-394 PDB
6LPB EM 390 A A 5-394 PDB
6M1H EM 360 A F 1-394 PDB
6M1I EM 350 A F 1-394 PDB
6NI3 EM 380 A A 1-394 PDB
6NIY EM 334 A A 1-394 PDB
6ORV EM 300 A AP 1-394 PDB
6P9X EM 291 A A 1-394 PDB
6P9Y EM 301 A A 1-394 PDB
6PB0 EM 300 A PDB
6PB1 EM 280 A PDB
6UUN EM 300 A A 1-394 PDB
6UUS EM 240 A A 1-394 PDB
6UVA EM 230 A A 1-394 PDB
6VCB EM 330 A A 1-394 PDB
6VN7 EM 320 A A 1-394 PDB
6WHC EM 340 A A 1-394 PDB
6WI9 EM 430 A A 1-394 PDB
6WPW EM 310 A C 1-394 PDB
6WZG EM 230 A A 1-394 PDB
6X18 EM 210 A A 1-394 PDB
6X19 EM 210 A A 1-394 PDB
6X1A EM 250 A A 1-394 PDB
6XOX EM 310 A A 27-394 PDB
7AUE EM 297 A A 1-394 PDB
7BB6 EM 420 A E 1-394 PDB
7BB7 EM 440 A E 1-394 PDB
7BPH X-ray 157 A A 7-394 PDB
7BW0 EM 390 A A 26-394 PDB
7BZ2 EM 382 A A 1-394 PDB
7C2E EM 420 A A 1-394 PDB
7CFM EM 300 A A 1-394 PDB
7CFN EM 300 A A 1-394 PDB
7CKW EM 322 A A 1-394 PDB
7CKX EM 354 A A 1-394 PDB
7CKY EM 320 A A 1-394 PDB
7CKZ EM 310 A A 1-394 PDB
7CRH EM 330 A A 1-394 PDB
7CX2 EM 280 A A 1-394 PDB
7CX3 EM 280 A A 1-394 PDB
7CX4 EM 290 A A 1-394 PDB
7CZ5 EM 260 A A 1-394 PDB
7D3S EM 290 A A 5-394 PDB
7D7M EM 330 A PDB
7DH5 EM 316 A PDB
7DHI EM 326 A A 1-394 PDB
7DHR EM 380 A A 1-394 PDB
7DUQ EM 250 A A 1-394 PDB
7DUR EM 330 A A 1-394 PDB
7DW9 EM 260 A PDB
7E14 EM 290 A A 1-394 PDB
7E5E X-ray 195 A A/B/C/D 35-394 PDB
7EPT EM 300 A A 1-394 PDB
7EVM EM 250 A A 1-394 PDB
7EVW EM 322 A A 6-394 PDB
7EZK EM 310 A PDB
7F0T EM 310 A PDB
7F16 EM 280 A A 1-394 PDB
7F1O EM 313 A PDB
7F1Z EM 346 A PDB
7F23 EM 358 A PDB
7F24 EM 416 A PDB
7F4D EM 300 A PDB
7F4F EM 290 A PDB
7F4H EM 270 A PDB
7F4I EM 310 A PDB
7F53 EM 300 A A 1-394 PDB
7F54 EM 300 A A 1-394 PDB
7F55 EM 310 A A 1-394 PDB
7F58 EM 310 A A 1-394 PDB
7JOZ X-ray 380 A A 1-394 PDB
7JV5 EM 300 A A 2-394 PDB
7JVP EM 290 A A 2-394 PDB
7JVQ EM 300 A A 1-394 PDB
7KH0 EM 280 A A 27-394 PDB
7KI0 EM 250 A A 1-394 PDB
7KI1 EM 250 A A 1-394 PDB
7LCI EM 290 A A 1-394 PDB
7LJC EM 300 A A 1-394 PDB
7LJD EM 320 A A 1-394 PDB
7LLL EM 370 A A 1-394 PDB
7LLY EM 330 A A 1-394 PDB
7MBX EM 195 A A 1-394 PDB
7P02 EM 287 A PDB
7PIU EM 258 A A 1-394 PDB
7PIV EM 286 A A 1-394 PDB
7RA3 EM 324 A A 27-394 PDB
7RBT EM 308 A A 26-394 PDB
7RG9 EM 320 A A 26-394 PDB
7RGP EM 290 A A 27-394 PDB
7RMH EM 310 A PDB
7RTB EM 214 A A 1-394 PDB
7S1M EM 241 A A 1-394 PDB
7S3I EM 251 A A 1-394 PDB
7T9I EM 290 A X 204-394 PDB
7T9N EM 290 A X 204-394 PDB
7TMW EM 320 A R 204-394 PDB
7TYF EM 220 A A 1-394 PDB
7TYH EM 330 A A 1-394 PDB
7TYI EM 330 A A 1-394 PDB
7TYL EM 330 A A 1-394 PDB
7TYN EM 260 A A 1-394 PDB
7TYO EM 270 A A 1-394 PDB
7TYW EM 300 A A 1-394 PDB
7TYX EM 255 A A 1-394 PDB
7TYY EM 300 A A 1-394 PDB
7TZF EM 240 A A 1-394 PDB
7UTZ EM 240 A X 204-394 PDB
7V35 EM 340 A A 1-394 PDB
7V9L EM 260 A PDB
7V9M EM 329 A A 1-394 PDB
7VAB EM 320 A PDB
7VBH EM 300 A A 1-394 PDB
7VBI EM 300 A A 12-394 PDB
7VUH EM 322 A PDB
7VUI EM 330 A PDB
7VUJ EM 380 A PDB
7VVJ EM 320 A A 5-394 PDB
7VVK EM 330 A A 5-394 PDB
7VVL EM 280 A A 5-394 PDB
7VVM EM 320 A A 5-394 PDB
7VVN EM 380 A A 5-394 PDB
7VVO EM 410 A A 5-394 PDB
7WCM EM 233 A A 1-394 PDB
7WCN EM 287 A A 1-394 PDB
7WQ4 EM 260 A A 1-394 PDB
7WU2 EM 280 A A 204-394 PDB
7WU3 EM 310 A A 204-394 PDB
7WUI EM 310 A PDB
7WUJ EM 330 A PDB
7WUQ EM 290 A A 1-394 PDB
7X2C EM 320 A A 6-394 PDB
7X2D EM 330 A A 6-394 PDB
7X2F EM 300 A A 6-394 PDB
7X8R EM 261 A A 1-394 PDB
7X8S EM 309 A A 1-394 PDB
7XJH EM 330 A A 5-394 PDB
7XJI EM 390 A A 5-394 PDB
7XKD EM 240 A A 1-394 PDB
7XKF EM 240 A A 1-394 PDB
7XOU EM 320 A A 1-394 PDB
7XOV EM 300 A A 1-394 PDB
7XP4 EM 301 A A 5-389 PDB
7XP5 EM 308 A A 5-389 PDB
7XP6 EM 301 A A 5-389 PDB
7XT8 EM 310 A A 1-394 PDB
7XT9 EM 320 A A 1-394 PDB
7XTB EM 330 A A 1-394 PDB
7XTC EM 320 A A 1-394 PDB
7XTQ EM 320 A A 1-394 PDB
7XW6 EM 278 A A 6-394 PDB
7XY6 EM 299 A PDB
7XY7 EM 326 A PDB
7XZ5 EM 310 A A 1-394 PDB
7XZ6 EM 280 A A 1-394 PDB
7Y35 EM 290 A A 1-394 PDB
7Y36 EM 280 A A 1-394 PDB
7Y3G EM 277 A A 1-394 PDB
7YDP EM 310 A PDB
7YP7 EM 310 A A 1-394 PDB
8E3X EM 230 A A 1-394 PDB
8E3Y EM 230 A A 1-394 PDB
8E3Z EM 270 A A 1-394 PDB
8EL7 EM 280 A A 1-394 PDB
8F0J EM 200 A A 1-394 PDB
8F0K EM 190 A A 1-394 PDB
8F2A EM 220 A A 1-394 PDB
8F2B EM 200 A A 1-394 PDB
8F76 EM 310 A PDB
8FLQ EM 255 A A 1-394 PDB
8FLR EM 294 A A 1-394 PDB
8FLS EM 309 A A 1-394 PDB
8FLT EM 303 A A 1-394 PDB
8FLU EM 276 A A 1-394 PDB
8FU6 EM 290 A A 1-394 PDB
8GD9 EM 320 A A 1-394 PDB
8GDA EM 330 A A 1-394 PDB
8GDB EM 310 A A 1-394 PDB
8GW8 EM 290 A A 12-394 PDB
8H4I EM 306 A PDB
8HDO EM 287 A A 1-394 PDB
8HDP EM 320 A A 1-394 PDB
8HIX EM 312 A PDB
8HJ0 EM 312 A PDB
8HJ1 EM 327 A PDB
8HJ2 EM 380 A PDB
8HMP EM 277 A PDB
8HMV EM 291 A C 11-394 PDB
8HTI EM 297 A A 2-394 PDB
8INR EM 273 A PDB
8IOC EM 286 A PDB
8IOD EM 259 A PDB
8IQ4 EM 270 A PDB
8IQ6 EM 340 A PDB
8IRV EM 310 A PDB
8IW7 EM 297 A PDB
8IW9 EM 308 A PDB
8IZB EM 306 A A 1-394 PDB
8J9N EM 350 A PDB
8JIQ EM 340 A A 1-394 PDB
8JIT EM 291 A A 1-394 PDB
8JIU EM 276 A A 1-394 PDB
8JLO EM 352 A A 1-394 PDB
8JLZ EM 309 A A 1-394 PDB
8JR9 EM 257 A PDB
8K8J EM 288 A PDB
8KGK EM 316 A PDB
8KH4 EM 310 A PDB
8KH5 EM 283 A PDB
8PM2 EM 292 A A 5-394 PDB
8SMV EM 274 A PDB
8TB0 EM 347 A R 26-394 PDB
8U26 EM 250 A A 204-394 PDB
8W88 EM 260 A A 1-394 PDB
8W8Q EM 289 A A 1-394 PDB
AF-P63092-F1 Predicted AlphaFoldDB

190 variants for P63092

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000522303
RCV000763448
RCV000017278
rs137854530
 1 M>V Pseudohypoparathyroidism Cushing syndrome [ClinVar] Yes ClinVar
dbSNP
RCV002503750
RCV001265981
RCV000191090
RCV002051824
CA250351
rs797045046
 12 Q>* McCune-Albright syndrome Pseudohypoparathyroidism Pseudopseudohypoparathyroidism Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV000760382
CA16043565
rs1057518907
RCV001270163
RCV000763449
RCV000414783
 29 Q>* Obesity Cushing syndrome Pseudohypoparathyroidism type 1B [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001267237
rs2089386059
RCV001760312
 35 Q>* Inborn genetic diseases [ClinVar] Yes ClinVar
dbSNP
RCV001869055
RCV000767533
rs774711025
 46 L>missing GNAS-related disorder [ClinVar] Yes ClinVar
dbSNP
rs1600976255
RCV000850178
CA409449096
 46 L>R Pseudohypoparathyroidism [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000190719
rs797044895
CA204715
 55 T>A Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA159922
RCV000121155
RCV001196518
rs587778380
 73 G>S Pseudohypoparathyroidism type 1B [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA409450241
RCV000853231
rs1601115202
 91 K>* Pseudohypoparathyroidism [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1601115231
RCV000787033
CA409450255
 93 Q>* Pseudohypoparathyroidism [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001196820
rs2090829910
 99 L>missing Pseudohypoparathyroidism type 1B [ClinVar] Yes ClinVar
dbSNP
CA126057
rs137854531
RCV000017285
VAR_003439
 99 L>P Pseudohypoparathyroidism AHO [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000785915
CA409450310
rs1569015549
 100 K>N Pseudopseudohypoparathyroidism [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000017323
RCV000017322
rs137854539
VAR_017843
CA126104
RCV002243646
 115 P>L Pseudohypoparathyroidism Pseudopseudohypoparathyroidism AHO [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV002489729
RCV001090864
RCV002250726
rs2090848106
 117 V>missing McCune-Albright syndrome Pseudohypoparathyroidism type I A [ClinVar] Yes ClinVar
dbSNP
VAR_031873 156 D>N PHP1A [UniProt] Yes UniProt
VAR_031874 159 V>M PHP1A [UniProt] Yes UniProt
VAR_003440
COSM725029
COSM725030
RCV000017286
RCV002288507
rs137854532
CA126062
RCV001729350
RCV002054444
 165 R>C lung Hereditary spastic paraplegia 4 Pseudohypoparathyroidism Variant assessed as Somatic; impact. Pseudohypoparathyroidism type I A AHO [Cosmic, ClinVar, NCI-TCGA, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
RCV001731307
RCV002496387
RCV001196108
RCV000678707
RCV003162254
rs587776829
RCV000017301
RCV000017300
RCV000017302
RCV001851884
 189 D>missing McCune-Albright syndrome Pseudohypoparathyroidism Pseudohypoparathyroidism type I A Progressive osseous heteroplasia Pseudopseudohypoparathyroidism Inborn genetic diseases Pseudohypoparathyroidism type 1B [ClinVar] Yes ClinVar
dbSNP
RCV002513071
RCV000133503
RCV000422043
RCV000444862
RCV000427542
RCV000017287
RCV000431495
RCV000437784
VAR_003442
COSM123397
CA126067
RCV000429524
RCV000017289
RCV000421422
RCV000443647
RCV000439728
RCV000420084
RCV000508635
RCV000432295
rs11554273
COSM27887
 201 R>C Adrenal cortex carcinoma upper_aerodigestive_tract Neoplasm of uterine cervix Hepatocellular carcinoma stomach testis Lung adenocarcinoma small_intestine kidney pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Sex cord-stromal tumor pituitary cervix Pituitary adenoma 3, multiple types Mccune-albright syndrome (mas) biliary_tract McCune-Albright syndrome liver adrenal_gland Cushing syndrome bone Gastric adenocarcinoma parathyroid lung Neoplasm Squamous cell carcinoma of the head and neck ovary thyroid Variant assessed as Somatic; 0.0 impact. large_intestine autonomic_ganglia breast Malignant melanoma of skin Breast neoplasm MAS; also found in somatotrophinoma [ClinVar, Cosmic, Ensembl, NCI-TCGA, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
ExAC
NCI-TCGA
dbSNP
gnomAD
COSM1757313
rs11554273
VAR_017844
RCV000017310
CA341353
 201 R>G Mccune-albright syndrome (mas) McCune-Albright syndrome bone MAS [Ensembl, ClinVar, Cosmic, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
ExAC
dbSNP
gnomAD
RCV000426918
RCV000437187
RCV000017293
RCV001813747
RCV000429798
RCV000421581
RCV000017290
RCV000428995
RCV000017292
RCV000443822
CA126069
rs121913495
RCV000418739
COSM94388
VAR_003441
RCV000436559
COSM27895
RCV001804738
RCV000439229
RCV000508670
RCV000430768
RCV000419515
 201 R>H Adrenal cortex carcinoma Neoplasm of uterine cervix Hepatocellular carcinoma stomach Lung adenocarcinoma small_intestine kidney pancreas Pancreatic adenocarcinoma soft_tissue Neoplasm of the large intestine haematopoietic_and_lymphoid_tissue Sex cord-stromal tumor pituitary cervix Pituitary adenoma 3, multiple types Mccune-albright syndrome (mas) biliary_tract McCune-Albright syndrome liver Cushing syndrome Pseudohypoparathyroidism type I A bone Gastric adenocarcinoma lung Neoplasm Squamous cell carcinoma of the head and neck ovary thyroid Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine breast Malignant melanoma of skin Breast neoplasm MAS and AIMAH1; also found in somatotrophinoma [ClinVar, Cosmic, Ensembl, NCI-TCGA, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV000191992
RCV000426787
RCV000434140
RCV000434801
COSM99221
RCV000423913
RCV000438552
CA347028
VAR_017845
RCV000445217
RCV000445297
rs121913495
COSM308279
RCV000428316
RCV000421098
RCV000437005
RCV000441446
 201 R>L Adrenal cortex carcinoma Mccune-albright syndrome (mas) biliary_tract McCune-Albright syndrome liver Neoplasm of uterine cervix Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma Neoplasm Squamous cell carcinoma of the head and neck large_intestine Variant assessed as Somatic; impact. Pancreatic adenocarcinoma Neoplasm of the large intestine Breast neoplasm Malignant melanoma of skin non-MAS endocrine tumors [ClinVar, Ensembl, Cosmic, NCI-TCGA, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
COSM27899
RCV000017299
VAR_017846
RCV000017298
CA126086
RCV000191991
rs11554273
RCV000017297
COSM1566192
 201 R>S pituitary Mccune-albright syndrome (mas) biliary_tract McCune-Albright syndrome Cushing syndrome stomach Polyostotic fibrous dysplasia, somatic, mosaic small_intestine PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC thyroid pancreas large_intestine AIMAH1; also found in pituitary tumor and polyostotic fibrous dysplasia [Cosmic, Ensembl, ClinVar, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
ExAC
dbSNP
gnomAD
RCV000191996
COSM27900
rs137854533
RCV000017296
VAR_017847
CA126080
CA347037
 227 Q>H McCune-Albright syndrome Variant assessed as Somatic; impact. Pituitary adenoma 3, multiple types thyroid pituitary adenomas; also found in a patient with severe Cushing syndrome [ClinVar, NCI-TCGA, Cosmic, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
NCI-TCGA
dbSNP
gnomAD
CA347031
rs797045203
COSM28618
RCV000191993
 227 Q>K McCune-Albright syndrome thyroid [ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
Ensembl
dbSNP
RCV000438847
COSM27888
COSM1731065
RCV000191994
CA347034
rs121913494
 227 Q>L pituitary Neoplasm Mccune-albright syndrome (mas) McCune-Albright syndrome liver Variant assessed as Somatic; impact. stomach bone [Cosmic, ClinVar, Ensembl, NCI-TCGA] Yes ClinGen
cosmic curated
ClinVar
Ensembl
NCI-TCGA
dbSNP
COSM1566191
rs121913494
RCV000191995
RCV000017294
VAR_003443
CA126074
COSM27896
 227 Q>R pituitary Pituitary adenoma 3, multiple types Mccune-albright syndrome (mas) McCune-Albright syndrome thyroid large_intestine stomach somatotrophinoma [Cosmic, ClinVar, Ensembl, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
Ensembl
dbSNP
rs1601162438
RCV001007922
RCV002283517
RCV001269956
CA409452326
RCV002497329
RCV002549273
 231 R>C McCune-Albright syndrome Pseudohypoparathyroidism Pseudohypoparathyroidism type I A Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV002514105
COSM302312
CA126099
rs137854538
RCV001731309
RCV000017311
COSM302311
VAR_017848
 231 R>H Pseudohypoparathyroidism central_nervous_system Pseudohypoparathyroidism type I A AHO; impairs the ability to mediate hormonal stimulation [ClinVar, Cosmic, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
Ensembl
dbSNP
rs1601163749
RCV000017283
RCV000017281
RCV000017282
 242 T>missing Pseudohypoparathyroidism Progressive osseous heteroplasia Pseudopseudohypoparathyroidism [ClinVar] Yes ClinVar
dbSNP
VAR_031875 242 T>I AHO [UniProt] Yes UniProt
VAR_031876 246 F>S AHO [UniProt] Yes UniProt
rs1555891562
RCV000623120
CA409452469
COSM48405
 248 V>M lung Inborn genetic diseases [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
Ensembl
dbSNP
RCV000017303
rs137854534
VAR_017849
CA126089
 250 S>R Pseudohypoparathyroidism AHO; may alter guanine nucleotide binding which could lead to thermolability and impaired function [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA409452512
RCV000754872
rs1272546759
 251 S>R Pseudopseudohypoparathyroidism [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs137854536
RCV000017307
CA214677
 258 R>A Pseudopseudohypoparathyroidism [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000017306
RCV001731308
RCV000595336
RCV001265731
CA214672
rs137854535
VAR_015388
 258 R>W Pseudohypoparathyroidism type I A Pseudopseudohypoparathyroidism Inborn genetic diseases AHO; defective GDP binding resulting in increased thermolability and decreased activation [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_031877 259 E>V AHO [UniProt] Yes UniProt
rs1555891595
CA409452665
RCV000624182
 265 R>C Variant assessed as Somatic; impact. Inborn genetic diseases [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
VAR_031878 280 R>G PHP1A [UniProt] Yes UniProt
VAR_031879 280 R>K PHP1A [UniProt] Yes UniProt
VAR_031880 281 W>R POH [UniProt] Yes UniProt
RCV001289548
rs2091331588
 292 N>missing Pseudopseudohypoparathyroidism [ClinVar] Yes ClinVar
dbSNP
CA278940
RCV000196321
rs863224876
 294 Q>* Pseudohypoparathyroidism [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_031881 338 K>N PHP1A [UniProt] Yes UniProt
RCV000758195
rs1569031518
 344 E>missing Pseudohypoparathyroidism type 1B [ClinVar] Yes ClinVar
dbSNP
CA126094
RCV000017309
VAR_017850
rs137854537
 366 A>S PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS PHP1A; the patient also shows testotoxicosis; constitutively activates adenylyl cyclase in vitro; rapidly degraded at 37 degrees resulting in loss of Gs activity [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA409453811
COSM1028509
RCV000593306
RCV003139897
rs137854537
COSM1028510
 366 A>T Variant assessed as Somatic; impact. endometrium Pseudohypoparathyroidism type I A [NCI-TCGA, Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
Ensembl
NCI-TCGA
dbSNP
RCV002546729
rs2091380655
RCV001335369
 371 N>missing Pseudohypoparathyroidism [ClinVar] Yes ClinVar
dbSNP
rs1569032751
RCV000761303
RCV002273823
 383 I>missing McCune-Albright syndrome Pseudohypoparathyroidism type 1B [ClinVar] Yes ClinVar
dbSNP
VAR_003444 385 R>H AHO; uncouples receptors from adenylyl cyclases [UniProt] Yes UniProt
rs397514457
CA128613
VAR_066387
RCV000022598
 388 L>R Pseudohypoparathyroidism type 1C PHP1C; significantly reduces receptor-mediated activation; displays normal receptor-independent activation [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV000022597
rs397514456
CA128610
 392 E>* Pseudohypoparathyroidism type 1C [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs397514456
RCV000174485
RCV000022599
COSM296229
CA128615
VAR_066388
COSM296230
 392 E>K large_intestine Variant assessed as Somatic; impact. Pseudohypoparathyroidism type 1C PHP1C; significantly reduces receptor-mediated activation; displays normal receptor-independent activation [Cosmic, NCI-TCGA, ClinVar, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
RCV000173143
rs745433225
 1 M>A No ClinVar
dbSNP
RCV000483377
rs137854530
 1 M>L No ClinVar
dbSNP
RCV000595919
RCV002222189
rs1555883949
 1 M>T No ClinVar
dbSNP
RCV000490003
rs1085307719
 1 M>missing No ClinVar
dbSNP
CA16620943
RCV000484773
rs1064794045
 3 C>S No ClinGen
ClinVar
Ensembl
dbSNP
CA409448636
rs1233534637
 4 L>H No ClinGen
gnomAD
CA409448640
rs1349914271
 5 G>R No ClinGen
gnomAD
rs747930447
CA316320569
 6 N>T No ClinGen
Ensembl
CA9926870
rs770736594
 7 S>N No ClinGen
ExAC
gnomAD
rs901936182
CA316320584
 9 T>I No ClinGen
TOPMed
TCGA novel 9 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9926871
rs200163406
 10 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs2089376607
RCV001269973
 11 D>missing No ClinVar
dbSNP
rs797045046
CA409448688
 12 Q>E No ClinGen
gnomAD
CA9926873
rs767014239
 13 R>H No ClinGen
ExAC
gnomAD
CA409448701
rs1417787139
 14 N>D No ClinGen
gnomAD
rs752140999
CA9926874
 14 N>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 26 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409448909
rs1057518907
 29 Q>E No ClinGen
Ensembl
rs1255226034
CA409448961
 33 D>Y No ClinGen
gnomAD
rs747013992
CA409448996
 35 Q>H No ClinGen
ExAC
gnomAD
CA409448999
rs1160685190
 36 V>I No ClinGen
gnomAD
CA9926885
rs777619747
 37 Y>F No ClinGen
ExAC
CA409449015
rs994421324
 38 R>G No ClinGen
TOPMed
gnomAD
CA316320671
rs994421324
 38 R>W No ClinGen
TOPMed
gnomAD
rs1057520715
RCV000429080
CA16608477
 42 R>H No ClinGen
ClinVar
Ensembl
dbSNP
TCGA novel 53 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 60 M>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9926939
rs151260175
 72 G>S No ClinGen
ESP
ExAC
TOPMed
CA409450080
rs587778380
 73 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs140388147
CA9926942
 77 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 78 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409450129
rs1601067102
 80 A>S No ClinGen
Ensembl
rs1462720772
CA409450133
 81 R>G No ClinGen
TOPMed
CA316328521
rs762134660
 82 S>N No ClinGen
Ensembl
rs1569001766
CA409450146
 82 S>R No ClinGen
Ensembl
rs1353681494
CA409450154
 83 N>K No ClinGen
TOPMed
rs750429818
CA9926945
 85 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA409450170
rs1327417712
 86 G>S No ClinGen
gnomAD
RCV000121156
CA159924
rs587778381
 87 E>K No ClinGen
ClinVar
Ensembl
dbSNP
CA9927024
rs747496009
 90 T>A Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 92 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1216764349
CA409450257
 93 Q>R No ClinGen
TOPMed
CA409450325
rs1131691999
RCV000493137
 102 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
rs773368433
CA9927029
 104 E>A No ClinGen
ExAC
gnomAD
rs767946220
CA9927061
 105 T>N No ClinGen
ExAC
gnomAD
VAR_031872 106 I>S AHO/PHP1A [UniProt] No UniProt
rs1057524389
RCV000421661
CA16609049
 107 V>L No ClinGen
ClinVar
Ensembl
dbSNP
CA409450392
rs1239045963
 111 S>T No ClinGen
gnomAD
CA9927067
rs779158940
 116 P>A No ClinGen
ExAC
gnomAD
COSM1681799
COSM1681798
rs1555889031
RCV000514466
CA409450425
 117 V>M lung [Cosmic] No ClinGen
cosmic curated
ClinVar
Ensembl
dbSNP
CA9927072
rs769546153
 123 E>K No ClinGen
ExAC
gnomAD
rs7121
CA409450573
 131 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375196529
CA9927075
 133 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369201934
CA409450639
 137 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9927077
rs369201934
 137 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9927078
rs753210957
 139 D>N No ClinGen
ExAC
gnomAD
TCGA novel 144 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9927079
rs761175344
 144 P>R No ClinGen
ExAC
TOPMed
TCGA novel 155 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV001200154
rs2090974560
 158 G>E No ClinVar
dbSNP
rs11554274
CA316336004
 160 R>H No ClinGen
Ensembl
CA409451218
rs1422801076
 164 E>K No ClinGen
TOPMed
RCV001269785
rs2090976265
 165 R>H No ClinVar
dbSNP
CA409451252
rs1178838217
 167 N>S No ClinGen
TOPMed
RCV001269717
rs2090976492
 167 N>missing No ClinVar
dbSNP
CA316336062
rs77096466
 175 A>V No ClinGen
Ensembl
rs1569020396
CA409451356
RCV000760383
 176 Q>* No ClinGen
ClinVar
Ensembl
dbSNP
rs1351910420
CA409451359
 176 Q>R No ClinGen
gnomAD
rs1027670523
CA316339768
 184 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs2091272733
RCV001221154
 188 A>missing No ClinVar
dbSNP
rs951728102
CA316339818
 194 D>G No ClinGen
TOPMed
CA409452083
rs1601161023
 196 D>A No ClinGen
Ensembl
rs1267396058
CA409452102
 199 R>H No ClinGen
gnomAD
TCGA novel 209 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409452214
rs1430900196
 216 K>R No ClinGen
TOPMed
TCGA novel 217 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9927178
rs775747511
 218 N>K No ClinGen
ExAC
gnomAD
rs113780390
CA316340296
 224 V>G No ClinGen
Ensembl
CA316340295
rs761439049
 224 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA409452306
rs1317816474
 228 R>H No ClinGen
gnomAD
rs758829628
CA9927197
 229 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1176666574
CA409452335
 233 K>Q No ClinGen
TOPMed
rs141552288 239 N>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs777939817
CA9927224
 244 I>V No ClinGen
ExAC
gnomAD
TCGA novel 245 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409452559
rs1366514134
 255 M>L No ClinGen
gnomAD
rs1555891584
CA409452590
RCV000520886
 258 R>Q No ClinGen
ClinVar
Ensembl
dbSNP
RCV000729139
CA409452613
rs1569029610
 260 D>G No ClinGen
ClinVar
Ensembl
dbSNP
CA10588702
rs886039677
RCV000254856
 262 Q>* No ClinGen
ClinVar
Ensembl
dbSNP
rs1601164303
RCV001009205
 268 E>missing No ClinVar
dbSNP
rs45476101
CA316340712
 277 W>* No ClinGen
Ensembl
rs11554278
CA316340996
 291 L>I No ClinGen
Ensembl
TCGA novel 294 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1802356
CA316341016
 298 A>S No ClinGen
Ensembl
CA409453104
rs1802356
 298 A>T No ClinGen
Ensembl
rs1555891728
RCV000523258
 299 E>missing No ClinVar
dbSNP
CA409453133
rs1555891743
RCV000519224
 300 K>* No ClinGen
ClinVar
Ensembl
dbSNP
TCGA novel 301 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1005934621
CA316341017
 301 V>I No ClinGen
TOPMed
TCGA novel 304 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs77336782
CA316341019
 304 G>V No ClinGen
Ensembl
TCGA novel 304 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9927261
rs754097818
 317 R>C No ClinGen
ExAC
TOPMed
gnomAD
COSM239986
COSM239987
rs1369025856
CA409453335
 317 R>H prostate [Cosmic] No ClinGen
cosmic curated
Ensembl
rs746934554
CA9927264
 319 T>I No ClinGen
ExAC
gnomAD
CA409453527
rs1601169209
 325 T>I No ClinGen
Ensembl
rs1312236716
CA409453540
 327 E>D No ClinGen
TOPMed
rs1394557997
CA409453548
 329 G>R No ClinGen
TOPMed
CA9927286
rs755974022
 333 R>C No ClinGen
ExAC
gnomAD
CA409453578
rs1418870137
 333 R>H No ClinGen
TOPMed
TCGA novel 334 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1569031388
RCV000678708
 336 R>missing No ClinVar
dbSNP
CA239766
RCV000174252
rs794727048
 337 A>D No ClinGen
ClinVar
Ensembl
dbSNP
rs778395812
CA9927290
 339 Y>N No ClinGen
ExAC
gnomAD
rs1601169591
CA409453613
 339 Y>S No ClinGen
Ensembl
CA316343505
rs3205253
 341 I>V No ClinGen
Ensembl
TCGA novel 342 R>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 347 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA409453704
rs1424128803
 351 A>T No ClinGen
gnomAD
TCGA novel 351 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1412736
CA316343729
COSM1412735
rs893327176
 356 R>C large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1367734842
CA409453776
 361 P>A No ClinGen
gnomAD
rs1410235096
CA409453790
 363 F>L No ClinGen
gnomAD
rs1601172628
CA409453797
 364 T>P No ClinGen
Ensembl
RCV000414072
rs1057518224
 365 C>missing No ClinVar
dbSNP
CA9927324
rs759578554
 373 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1569032625
CA409453861
 373 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1555892189
CA409453875
RCV000598372
 375 V>A No ClinGen
ClinVar
Ensembl
dbSNP
CA9927325
rs764065202
 377 N>S No ClinGen
ExAC
gnomAD
RCV000481496
CA16620945
rs1064795798
 379 C>Y No ClinGen
ClinVar
Ensembl
dbSNP
VAR_049358
CA316343764
VAR_059656
rs8986
 380 R>L No ClinGen
UniProt
Ensembl
dbSNP
rs1334425670
CA409453915
 381 D>G No ClinGen
TOPMed
VAR_034744 382 I>del unable to interact with the receptor for PTH [UniProt] No UniProt
CA9927329
rs750103665
 389 R>H No ClinGen
ExAC
gnomAD

No associated diseases with P63092

4 regional properties for P63092

Type Name Position InterPro Accession
domain Aminoacyl-tRNA synthetase, class II (G/ P/ S/T) 221 - 399 IPR002314
domain Aminoacyl-tRNA synthetase, class II 138 - 409 IPR006195
domain Serine-tRNA synthetase, type1, N-terminal 1 - 107 IPR015866
domain Serine-tRNA ligase catalytic core domain 120 - 416 IPR033729

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Lipid-anchor
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.
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.
heterotrimeric G-protein complex Any of a family of heterotrimeric GTP-binding and hydrolyzing proteins; they belong to a superfamily of GTPases that includes monomeric proteins such as EF-Tu and RAS. Heterotrimeric G-proteins consist of three subunits; the alpha subunit contains the guanine nucleotide binding site and possesses GTPase activity; the beta and gamma subunits are tightly associated and function as a beta-gamma heterodimer; extrinsic plasma membrane proteins (cytoplasmic face) that function as a complex to transduce signals from G protein-coupled receptors to an effector protein.
intrinsic component of membrane The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
trans-Golgi network membrane The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network.

5 GO annotations of molecular function

Name Definition
adenylate cyclase activator activity Increases the activity of the enzyme that catalyzes the reaction: ATP = 3',5'-cyclic AMP + diphosphate.
G-protein beta/gamma-subunit complex binding Binding to a complex of G-protein beta/gamma subunits.
GTP binding Binding to GTP, guanosine triphosphate.
GTPase activity Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate.
metal ion binding Binding to a metal ion.

16 GO annotations of biological process

Name Definition
activation of adenylate cyclase activity Any process that initiates the activity of the inactive enzyme adenylate cyclase.
adenylate cyclase-activating adrenergic receptor signaling pathway An adenylate cyclase-activating G protein-coupled receptor signaling pathway initiated by a ligand binding to an adrenergic receptor on the surface of the target cell, and ending with the regulation of a downstream cellular process.
adenylate cyclase-activating dopamine receptor signaling pathway An adenylate cyclase-activating G protein-coupled receptor signaling pathway initiated by dopamine binding to its receptor, and ending with the regulation of a downstream cellular process.
adenylate cyclase-activating G protein-coupled receptor signaling pathway A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of adenylyl cyclase activity and a subsequent increase in the intracellular concentration of cyclic AMP (cAMP).
bone development The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components.
cellular response to catecholamine stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a catecholamine stimulus. A catecholamine is any of a group of biogenic amines that includes 4-(2-aminoethyl)pyrocatechol [4-(2-aminoethyl)benzene-1,2-diol] and derivatives formed by substitution.
cellular response to prostaglandin E stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a prostagladin E stimulus.
cognition The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory.
developmental growth The increase in size or mass of an entire organism, a part of an organism or a cell, where the increase in size or mass has the specific outcome of the progression of the organism over time from one condition to another.
hair follicle placode formation The developmental process in which a hair placode forms. An hair follicle placode is a thickening of the ectoderm that will give rise to the hair follicle bud.
intracellular transport The directed movement of substances within a cell.
platelet aggregation The adhesion of one platelet to one or more other platelets via adhesion molecules.
positive regulation of cAMP-mediated signaling Any process which activates, maintains or increases the frequency, rate or extent of cAMP-mediated signaling.
positive regulation of cold-induced thermogenesis Any process that activates or increases the frequency, rate or extent of cold-induced thermogenesis.
positive regulation of GTPase activity Any process that activates or increases the activity of a GTPase.
sensory perception of smell The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors. This is a neurological process.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MGCLGNSKTE DQRNEEKAQR EANKKIEKQL QKDKQVYRAT HRLLLLGAGE SGKSTIVKQM
70 80 90 100 110 120
RILHVNGFNG EGGEEDPQAA RSNSDGEKAT KVQDIKNNLK EAIETIVAAM SNLVPPVELA
130 140 150 160 170 180
NPENQFRVDY ILSVMNVPDF DFPPEFYEHA KALWEDEGVR ACYERSNEYQ LIDCAQYFLD
190 200 210 220 230 240
KIDVIKQADY VPSDQDLLRC RVLTSGIFET KFQVDKVNFH MFDVGGQRDE RRKWIQCFND
250 260 270 280 290 300
VTAIIFVVAS SSYNMVIRED NQTNRLQEAL NLFKSIWNNR WLRTISVILF LNKQDLLAEK
310 320 330 340 350 360
VLAGKSKIED YFPEFARYTT PEDATPEPGE DPRVTRAKYF IRDEFLRIST ASGDGRHYCY
370 380 390
PHFTCAVDTE NIRRVFNDCR DIIQRMHLRQ YELL