Type | Description |
---|---|
Definition | phosphorylase kinase regulatory subunit alpha 1 |
Date | Results | Publications |
---|---|---|
2012-03-10 10:25:00 | muscle PHKA deficiency may present as an almost asymptomatic condition, despite a mild impairment of muscle | 22238410 |
2010-01-21 00:00:00 | alpha- and beta-subunits possess amino-terminal glucoamylase-like domains and suggests that they might possess a previously overlooked amylase activity | 12876330 |
2010-01-21 00:00:00 | X-linked PHK deficiency causes a mild metabolic myopathy with blunted muscle glycogen breakdown and impaired lactate production during dynamic exercise, which impairs oxidative capacity only marginally | 18401027 |
Type | IDs |
---|---|
Synonymous | PHKA |
Gene |
UniProtKB-ID:
KPB1_HUMAN
UniprotKB:
P46020
UniParc:
UPI000013D340,
UPI0000212364,
UPI000189A78B
EMBL:
X73874,
BX295542,
BC104944,
BC143501,
BX295541,
BC143499
Ensembl:
ENSG00000067177
KO:
hsa:5255
|
Nucleutide sequences |
EMBL-CDS:
CAA52083.1,
AAI43500.1,
AAI43502.1,
AAI04945.1
Ensembl_TRS:
ENST00000373542,
ENST00000339490,
ENST00000541944
|
Protein sequencees |
Ensembl_PRO:
ENSP00000441251,
ENSP00000342469,
ENSP00000362643
RefSeq:
NP_002628.2,
XP_006724724.1,
NP_001116142.1,
NP_001165907.1
|
Others |
UniRef100:
UniRef100_P46020
UniRef90:
UniRef90_P46020
UniRef50:
UniRef50_P46020
UniGene:
Hs.201379
CCDS:
CCDS55453.1,
CCDS14421.1,
CCDS48137.1
|
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Refseq |
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