PRKAR1B
entrez
5575
canonical
uniprot
P31321
canonical
ensembl
ENSG00000188191
resolver
ensp
ENSP00000353415
resolver
ensp
ENSP00000385349
resolver
ensp
ENSP00000385749
resolver
ensp
ENSP00000440449
resolver
ensp
ENSP00000444487
resolver
ensp
ENSP00000522458
resolver
ensp
ENSP00000522459
resolver
ensp
ENSP00000522460
resolver
ensp
ENSP00000522461
resolver
ensp
ENSP00000522462
resolver
ensp
ENSP00000522463
resolver
ensp
ENSP00000522464
resolver
ensp
ENSP00000522465
resolver
ensp
ENSP00000522466
resolver
ensp
ENSP00000522467
resolver
ensp
ENSP00000522468
resolver
ensp
ENSP00000522471
resolver
ensp
ENSP00000522472
resolver
ensp
ENSP00000582991
resolver
ensp
ENSP00000582994
resolver
ensp
ENSP00000582995
resolver
ensp
ENSP00000582996
resolver
ensp
ENSP00000642149
resolver
ensp
ENSP00000642150
resolver
ensp
ENSP00000642151
resolver
ensp
ENSP00000642152
resolver
ensp
ENSP00000642153
resolver
ensp
ENSP00000642154
resolver
ensp
ENSP00000642156
resolver
enst
ENST00000360274
resolver
enst
ENST00000403562
resolver
enst
ENST00000406797
resolver
enst
ENST00000537384
resolver
enst
ENST00000544935
resolver
enst
ENST00000852399
resolver
enst
ENST00000852400
resolver
enst
ENST00000852401
resolver
enst
ENST00000852402
resolver
enst
ENST00000852403
resolver
enst
ENST00000852404
resolver
enst
ENST00000852405
resolver
enst
ENST00000852406
resolver
enst
ENST00000852407
resolver
enst
ENST00000852408
resolver
enst
ENST00000852409
resolver
enst
ENST00000852412
resolver
enst
ENST00000852413
resolver
enst
ENST00000912932
resolver
enst
ENST00000912935
resolver
enst
ENST00000912936
resolver
enst
ENST00000912937
resolver
enst
ENST00000972090
resolver
enst
ENST00000972091
resolver
enst
ENST00000972092
resolver
enst
ENST00000972093
resolver
enst
ENST00000972094
resolver
enst
ENST00000972095
resolver
enst
ENST00000972097
resolver
genesymbol
PRKAR1B
resolver
hgnc
HGNC:9390
resolver
uniprot
Q8N422
resolver
uniprot_entry
KAP1_HUMAN
resolver
uniprot_sec
Q8N422
resolver
amino_acid_sequence
MASPPACPSEEDESLKGCELYVQLHGIQQVLKDCIVHLCISKPERPMKFLREHFEKLEKEENRQILARQKSNSQSDSHDEEVSPTPPNPVVKARRRRGGVSAEVYTEEDAVSYVRKVIPKDYKTMTALAKAISKNVLFAHLDDNERSDIFDAMFPVTHIAGETVIQQGNEGDNFYVVDQGEVDVYVNGEWVTNISEGGSFGELALIYGTPRAATVKAKTDLKLWGIDRDSYRRILMGSTLRKRKMYEEFLSKVSILESLEKWERLTVADALEPVQFEDGEKIVVQGEPGDDFYIITEGTASVLQRRSPNEEYVEVGRLGPSDYFGEIALLLNRPRAATVVARGPLKCVKLDRPRFERVLGPCSEILKRNIQRYNSFISLTV
uniprot
proteins
disease_involvement
DISEASE: Marbach-Schaaf neurodevelopmental syndrome (MASNS) [MIM:619680]: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, speech delay, behavioral abnormalities, hypotonia, and movement disorders including dyspraxia, apraxia, and clumsiness. More variable features include high pain tolerance, sleep disturbances, and variable non-specific dysmorphic features. {ECO:0000269|PubMed:33833410}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells. {ECO:0000269|PubMed:20819953}.
uniprot
proteins
mass_dalton
43073
uniprot
proteins
post_translational_modification
PTM: The pseudophosphorylation site binds to the substrate-binding region of the catalytic chain, resulting in the inhibition of its activity.
uniprot
proteins
protein_family
CAMP-dependent kinase regulatory chain family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16777052
uniprot
proteins
pubmed
1708242
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20819953
uniprot
proteins
pubmed
23115245
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27028580
uniprot
proteins
pubmed
33833410
uniprot
proteins
pubmed
38326651
uniprot
proteins
pubmed
7925653
uniprot
proteins
sequence_length
381
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23115245, ECO:0000269|PubMed:27028580}.
uniprot
proteins