Gene Gene information from NCBI Gene database.
Entrez ID 80318
Gene name G kinase anchoring protein 1
Gene symbol GKAP1
Synonyms (NCBI Gene)
FKSG21GKAP42
Chromosome 9
Chromosome location 9q21.32
Summary This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I alpha to the Golgi in mouse test
miRNA miRNA information provided by mirtarbase database.
16
miRTarBase ID miRNA Experiments Reference
MIRT019677 hsa-miR-375 Microarray 20215506
MIRT1020302 hsa-miR-153 CLIP-seq
MIRT1020303 hsa-miR-217 CLIP-seq
MIRT1020304 hsa-miR-548a-3p CLIP-seq
MIRT1020305 hsa-miR-548ae CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005794 Component Golgi apparatus IEA
GO:0005794 Component Golgi apparatus ISS
GO:0007165 Process Signal transduction IBA
GO:0007165 Process Signal transduction IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611356 17496 ENSG00000165113
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VSY0
Protein name G kinase-anchoring protein 1 (cGMP-dependent protein kinase-anchoring protein of 42 kDa)
Protein function Regulates insulin-dependent IRS1 tyrosine phosphorylation in adipocytes by modulating the availability of IRS1 to IR tyrosine kinase. Its association with IRS1 is required for insulin-induced translocation of SLC2A4 to the cell membrane. Involve
Family and domains
Sequence
MASAVLSSVPTTASRFALLQVDSGSGSDSEPGKGKGRNTGKSQTLGSKSTTNEKKREKRR
KKKEQQQSEANELRNLAFKKIPQKSSHAVCNAQHDLPLSNPVQKDSREENWQEWRQRDEQ
LTSEMFEADLEKALLLSKLEYEEHKKEYEDAENTSTQSKVMNKKDKRKNHQGKDRPLTVS
LKDFHSEDHISKKTEELSSSQTLSHDGGFFNRLEDDVHKILIREKRREQLTEYNGTDNCT
AHEHNQEVVLKDGRIERLKLELERKDAEIQKLKNVITQWEAKYKEVKARNAQLLKMLQEG
EMKDKAEILLQVDESQSIKNELTIQVTSLHAALEQERSKVKVLQAELAKYQGGRKGKRNS
ESDQCR
Sequence length 366
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Bladder Exstrophy Associate 37509153
★☆☆☆☆
Found in Text Mining only
Glioma Associate 33820494
★☆☆☆☆
Found in Text Mining only