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0AAKG1_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NamePRKAG1
Description5'-amp-activated protein kinase, gamma-1 subunit (ampk gamma-1 chain) (ampkg).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0004691 cAMP-dependent protein kinase activity (TAS)
0006468 protein amino acid phosphorylation (TAS)
0007165 signal transduction (TAS)
0007283 spermatogenesis (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
CBS (cystathionine-beta-synthase) domains are small intracellular modules.ostly found in two or four copies within a protein.hat occur in several different proteins in all kingdoms of life. Tandem pairs of CBS domains can act as binding domains for adenosine derivatives and may regulate the activity of attached enzymatic or other domains . In some cases.BS domains may act as sensors of cellular energy status by being activated by AMP and inhibited by ATP . In chloride ion channels.he CBS domains have been implicated in intracellular targeting and trafficking.s well as in protein-protein interactions.ut results vary with different channels: in the CLC-5 channel.he CBS domain was shown to be required for trafficking .hile in the CLC-1 channel.he CBS domain was shown to be critical for channel function.ut not necessary for trafficking . Mutations in conserved residues within CBS domains cause a variety of human hereditary diseases.ncluding (with the gene mutated in parentheses): homocystinuria (cystathionine beta-synthase); Wolff-Parkinson-White syndrome (gamma 2 subunit of AMP-activated protein kinase); retinitis pigmentosa (IMP dehydrogenase-1); congenital myotonia.diopathic generalized epilepsy.ypercalciuric nephrolithiasis.nd classic Bartter syndrome (CLC chloride channel family members).
  IPR000644:CBS
IPR000644:CBS 
Evalue:-20.6989707946777 
Location:198-323IPR000644:CBS 
Evalue:-17.2518119812012 
Location:42-177
SequencesProtein: AAKG1_HUMAN (331 aa)
mRNA: AK097606 NM_002733
Local Annotation
Synapse Ontology
transport of vesicles in the presynaptic neuron
sdb:0017 Mobilization: synapsins, CAM kinase I  (Evidence:keywords)
KO assignmentK07200
  Level 3 annotation:
    5'-AMP-activated protein kinase, regulatory gamma subunit
  Level 2 annotation:
    Insulin signaling pathway
    Adipocytokine signaling pathway
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 245 residues, 47682322-47683056Exon2: 51 residues, 47683193-47683340Exon3: 14 residues, 47683607-47683645Exon4: 57 residues, 47683806-47683972Exon5: 44 residues, 47684556-47684683Exon6: 20 residues, 47685013-47685068Exon7: 17 residues, 47685169-47685215Exon8: 21 residues, 47685355-47685414Exon9: 29 residues, 47685511-47685593Exon10: 38 residues, 47685792-47685902Exon11: 18 residues, 47693111-47693160Exon12: 28 residues, 47698781-47698859Exon13: 2 residues, -Jump to AAKG1_HUMANExon1: 244 residues, 47682327-47683056Exon2: 51 residues, 47683193-47683340Exon3: 14 residues, 47683607-47683645Exon4: 57 residues, 47683806-47683972Exon5: 44 residues, 47684556-47684683Exon6: 20 residues, 47685013-47685068Exon7: 17 residues, 47685169-47685215Exon8: 30 residues, 47685355-47685441Exon9: 29 residues, 47685511-47685593Exon10: 38 residues, 47685792-47685902Exon11: 18 residues, 47693111-47693160Exon12: 18 residues, 47698781-47698829Exon13: 2 residues, -Jump to AAKG1_HUMAN  
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Loci Cluster (Details)Loci: 4027 47682322-47698859 ~-17K 8773(PRKAG1)(-)Loci: 4028 47744734-47750042 ~-5K 8775(-)Loci: 4029 47807832-47811571 ~-4K 8784(-)Loci: 4030 47864851-47869128 ~-4K 8785(TUBA3)(-)Loci: 2749 47975175-47978747 ~-4K 8788(PRPH)(+)Loci: 2750 48219206-48238344 ~-19K 8796(KCNH3)(+)Loci: 4031 48546946-48583987 ~-37K 8814(FAIM2)(-)Loci: 2751 48630795-48638929 ~-8K 8815(AQP2)(+)Loci: 2752 48737753-48763660 ~-26K 8820(ACCN2)(+)Loci: 2748 47658502-47662746 ~-4K 8771(WNT1)(+)Link out to UCSC