KAP0_HUMAN
Source:
hRBCD
; ID:
IPI00021831
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Membrane associated protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
PRKAR1A
, PKR1, PRKAR1, TSE1
Protein names and data:
KAP0_HUMAN
, cAMP-dependent protein kinase type I-alpha regulatory subunit
, Tissue-specific extinguisher 1; TSE1; cAMP-dependent protein kinase type I-alpha regulatory subunit, N-terminally processed
Lenght: 381 a.a.
Mass: 42982 Da
fasta formatted sequence
Function:
Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells.
Disease:
( OMIM:
101800
160980
188830
255960
610489
)
Carney complex 1 (CNC1) [MIM:160980]: CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Note=The disease is caused by mutations affecting the gene represented in this entry. Intracardiac myxoma (INTMYX) [MIM:255960]: Inheritance is autosomal recessive. Note=The disease is caused by mutations affecting the gene represented in this entry. Primary pigmented nodular adrenocortical disease 1 (PPNAD1) [MIM:610489]: A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. PPNAD1 is most often diagnosed in patients with Carney complex, a multiple neoplasia syndrome. However it can also be observed in patients without other manifestations. Note=The disease is caused by mutations affecting the gene represented in this entry. Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800]: A form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin. However, not all patients show endocrine abnormalities. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cell membrane.
Tissue specificity:
Four types of regulatory chains are found: I- alpha, I-beta, II-alpha, and II-beta. Their expression varies among tissues and is in some cases constitutive and in others inducible.
Genetic variants
9 - 9
S -> N (in CNC1; exhibits increased PKA activity which is attributed to decreased binding to cAMP and/or the catalytic subunit). VAR_046894
74 - 74
R -> C (in CNC1; exhibits increased PKA activity which is attributed to decreased binding to cAMP and/or the catalytic subunit). VAR_046895
146 - 146
R -> S (in CNC1; exhibits increased PKA activity which is attributed to decreased binding to cAMP and/or the catalytic subunit). VAR_046896
183 - 183
D -> Y (in CNC1; exhibits increased PKA activity which is attributed to decreased binding to cAMP and/or the catalytic subunit). VAR_046897
213 - 213
A -> D (in CNC1; exhibits increased PKA activity which is attributed to decreased binding to cAMP and/or the catalytic subunit). VAR_046898
213 - 213
A -> T (in ACRDYS1). VAR_069456
227 - 227
D -> N. VAR_069457
239 - 239
T -> A (in ACRDYS1; impairs response of PKA to c-AMP). VAR_069458
285 - 285
Q -> R (in ACRDYS1). VAR_069459
289 - 289
G -> E (in ACRDYS1). VAR_069460
289 - 289
G -> W (in CNC1; exhibits increased PKA activity which is attributed to decreased binding to cAMP and/or the catalytic subunit). VAR_046899
327 - 327
I -> T (in ACRDYS1). VAR_069461
328 - 328
A -> V (in ACRDYS1). VAR_069462
335 - 335
R -> L (in ACRDYS1). VAR_069464
335 - 335
R -> P (in ACRDYS1). VAR_069463
373 - 373
Y -> C (in ACRDYS1). VAR_069465
373 - 373
Y -> H (in ACRDYS1). VAR_068241
Database cross-references
UniProt:
P10644
Ensembl:
ENST00000358598
Ensembl:
ENST00000392711
Ensembl:
ENST00000536854
Ensembl:
ENST00000586397
Ensembl:
ENST00000589228
MIM:
101800
MIM:
160980
MIM:
188830
MIM:
255960
MIM:
610489
neXtProt:
NX_P10644
Antibodypedia:
P10644
(may not find the protein thus also not any antibody)
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