AKAIN1 (A-kinase anchor inhibitor 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 642597
Gene name A-kinase anchor inhibitor 1
Gene symbol AKAIN1
Synonyms (NCBI Gene)
C18orf42
Chromosome 18
Chromosome location 18p11.31
miRNA miRNA information provided by mirtarbase database.
35
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (35)
miRTarBase ID miRNA Experiments Reference
MIRT617161 hsa-miR-8485 HITS-CLIP 23824327
MIRT617160 hsa-miR-329-3p HITS-CLIP 23824327
MIRT617159 hsa-miR-362-3p HITS-CLIP 23824327
MIRT617158 hsa-miR-603 HITS-CLIP 23824327
MIRT617157 hsa-miR-4789-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (7)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005829 Component Cytosol IEA
GO:0008104 Process Intracellular protein localization IDA 25653177
GO:0031333 Process Negative regulation of protein-containing complex assembly IEA
GO:0051018 Function Protein kinase A binding IDA 25653177
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616427 28285 ENSG00000231824
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0CW23
Protein name A-kinase anchor protein inhibitor 1
Protein function Protein kinase A (PKA)-binding protein. Binds to type II regulatory subunits of protein kinase A (PKA) and may block the A-kinase anchoring protein (AKAP)-mediated subcellular localization of PKA (PubMed:25653177).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10470 AKAP7_RIRII_bdg 11 → 54 PKA-RI-RII subunit binding domain of A-kinase anchor protein Domain
Tissue specificity TISSUE SPECIFICITY: Preferentially expressed in the neural tissues (PubMed:25653177). {ECO:0000269|PubMed:25653177}.
Sequence
Sequence length 69
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
SCOLIOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations