Gene Gene information from NCBI Gene database.
Entrez ID 56672
Gene name A-kinase interacting protein 1
Gene symbol AKIP1
Synonyms (NCBI Gene)
BCA3C11orf17
Chromosome 11
Chromosome location 11p15.4
Summary This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants hav
miRNA miRNA information provided by mirtarbase database.
244
miRTarBase ID miRNA Experiments Reference
MIRT036485 hsa-miR-1226-3p CLASH 23622248
MIRT680293 hsa-miR-4733-5p HITS-CLIP 23824327
MIRT680292 hsa-miR-6499-5p HITS-CLIP 23824327
MIRT680291 hsa-miR-4284 HITS-CLIP 23824327
MIRT680290 hsa-miR-24-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15630084, 32296183, 32814053
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IBA
GO:0005654 Component Nucleoplasm IDA
GO:0034446 Process Substrate adhesion-dependent cell spreading IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609191 1170 ENSG00000166452
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NQ31
Protein name A-kinase-interacting protein 1 (Breast cancer-associated gene 3 protein) (PKA-interacting protein) (Proline-rich protein BCA3)
Protein function Enhances NF-kappa-B transcriptional activity by regulating the nuclear localization of the NF-kappa-B subunit RELA and promoting the phosphorylation of RELA by PRKACA. Regulates the effect of the cAMP-dependent protein kinase signaling pathway o
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in adult heart and at lower levels in brain, testis, ovary and skeletal muscle. Up-regulated in some breast cancer cell lines. Isoform 1 and isoform 3 are expressed in fetal brain. {ECO:0000269|PubMed:12527432,
Sequence
MDNCLAAAALNGVDRRSLQRSARLALEVLERAKRRAVDWHALERPKGCMGVLAREAPHLE
KQPAAGPQRVLPGEREERPPTLSASFRTMAEFMDYTSSQCGKYYSSVPEEGGATHVYRYH
RGESKLHMCLDIGNGQRKDRKKTSLGPGGSYQISEHAPEASQPAENISKDLYIEVYPGTY
SVTVGSNDLTKKTHVVAVDSGQSVDLVFPV
Sequence length 210
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
HEART FAILURE, DIASTOLIC CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Astrocytoma Astrocytoma Pubtator 38019246 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 12527432, 20562110, 28791343, 29677171
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 20562110, 25526186, 32401379 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 32133702 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 32541526 Stimulate
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 20647320, 29520695
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 20647320, 29520695
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30349312
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 33530151, 35111846 Associate
★☆☆☆☆
Found in Text Mining only
Heart Failure, Diastolic Heart Failure CTD_human_DG 29556499
★★☆☆☆
Found in Text Mining + Unknown/Other Associations