KPB2_HUMAN
Source:
PM23856902
PM22954596
Marked as 'Membrane associated protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
PHKA2
, PHKLA, PYK
Protein names and data:
KPB2_HUMAN
, Phosphorylase b kinase regulatory subunit alpha, liver isoform; Phosphorylase kinase alpha L subunit
Lenght: 1235 a.a.
Mass: 138408 Da
fasta formatted sequence
Function:
Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.
Pathway:
Glycan biosynthesis; glycogen metabolism.
Disease:
( OMIM:
300798
306000
)
Glycogen storage disease 9A (GSD9A) [MIM:306000]: A metabolic disorder resulting in a mild liver glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis. Two subtypes are known: type 1 or classic type with no phosphorylase kinase activity in liver or erythrocytes, and type 2 or variant type with no phosphorylase kinase activity in liver, but normal activity in erythrocytes. Unlike other glycogenosis diseases, glycogen storage disease type 9A is generally a benign condition. Patients improve with age and are often asymptomatic as adults. Accurate diagnosis is therefore also of prognostic interest. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cell membrane; Lipid-anchor; Cytoplasmic side (Potential).
Tissue specificity:
Predominantly expressed in liver and other non-muscle tissues.
Genetic variants
38 - 38
E -> Q (in dbSNP:rs17313469). VAR_024563
17313469
120 - 120
T -> TYNTAT (in GSD9A). VAR_062393
132 - 132
H -> P (in GSD9A; type 2). VAR_006177
132 - 132
H -> Y (in GSD9A; type 2). VAR_006178
141 - 141
Missing (in GSD9A; type 1). VAR_006179
186 - 186
R -> C (in GSD9A; type 2). VAR_006180
186 - 186
R -> H (in GSD9A; type 2). VAR_006181
189 - 190
Missing (in GSD9A; type 2). VAR_012270
189 - 189
K -> E (in GSD9A; type 2). VAR_012269
193 - 193
G -> V (in GSD9A; type 2). VAR_012271
251 - 251
Missing (in GSD9A; type 2). VAR_006182
295 - 295
R -> H (in GSD9A; type 1 and type 2). VAR_012272
299 - 299
D -> G (in GSD9A; type 2). VAR_006183
399 - 399
P -> S (in GSD9A; type 1). VAR_012273
416 - 416
G -> R (in dbSNP:rs16980929). VAR_050518
16980929
498 - 498
P -> L (in GSD9A). VAR_062394
818 - 825
Missing (in GSD9A; type 1). VAR_012274
869 - 869
P -> R (in GSD9A). VAR_062395
916 - 916
R -> W (in GSD9A). VAR_062396
953 - 954
NL -> I (in GSD9A; type 1). VAR_012275
1070 - 1070
Missing (in GSD9A). VAR_062397
1111 - 1111
R -> RTR (in GSD9A; type 2). VAR_006184
1113 - 1113
M -> I (in GSD9A). VAR_062398
1114 - 1114
T -> I (in GSD9A; type 2). VAR_006185
1125 - 1125
E -> K (in GSD9A; type 1). VAR_012276
1205 - 1205
P -> L (in GSD9A; type 1). VAR_006186
1207 - 1207
G -> W (in GSD9A; type 1). VAR_012277
Database cross-references
UniProt:
P46019
Ensembl:
ENST00000379942
MIM:
300798
MIM:
306000
neXtProt:
NX_P46019
Antibodypedia:
P46019
(may not find the protein thus also not any antibody)
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