Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	118788
Gene name	Phosphoinositide-3-kinase adaptor protein 1
Gene symbol	PIK3AP1
Synonyms (NCBI Gene)	BCAP
Chromosome	10
Chromosome location	10q24.1

Show/Hide all (89)

miRTarBase ID	miRNA	Experiments	Reference
MIRT044289	hsa-miR-106b-5p	CLASH	23622248
MIRT726942	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT726941	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT726940	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT1233800	hsa-miR-103a	CLIP-seq
MIRT1233801	hsa-miR-107	CLIP-seq
MIRT1233802	hsa-miR-1254	CLIP-seq
MIRT1233803	hsa-miR-1297	CLIP-seq
MIRT1233804	hsa-miR-26a	CLIP-seq
MIRT1233805	hsa-miR-26b	CLIP-seq
MIRT1233806	hsa-miR-302a	CLIP-seq
MIRT1233807	hsa-miR-302b	CLIP-seq
MIRT1233808	hsa-miR-302c	CLIP-seq
MIRT1233809	hsa-miR-302d	CLIP-seq
MIRT1233810	hsa-miR-302e	CLIP-seq
MIRT1233811	hsa-miR-3116	CLIP-seq
MIRT1233812	hsa-miR-3192	CLIP-seq
MIRT1233813	hsa-miR-34b	CLIP-seq
MIRT1233814	hsa-miR-3622b-5p	CLIP-seq
MIRT1233815	hsa-miR-3682-5p	CLIP-seq
MIRT1233816	hsa-miR-369-3p	CLIP-seq
MIRT1233817	hsa-miR-372	CLIP-seq
MIRT1233818	hsa-miR-373	CLIP-seq
MIRT1233819	hsa-miR-374a	CLIP-seq
MIRT1233820	hsa-miR-374b	CLIP-seq
MIRT1233821	hsa-miR-374c	CLIP-seq
MIRT1233822	hsa-miR-421	CLIP-seq
MIRT1233823	hsa-miR-4272	CLIP-seq
MIRT1233824	hsa-miR-4299	CLIP-seq
MIRT1233825	hsa-miR-4452	CLIP-seq
MIRT1233826	hsa-miR-4465	CLIP-seq
MIRT1233827	hsa-miR-4474-5p	CLIP-seq
MIRT1233828	hsa-miR-4642	CLIP-seq
MIRT1233829	hsa-miR-4666-3p	CLIP-seq
MIRT1233830	hsa-miR-4668-3p	CLIP-seq
MIRT1233831	hsa-miR-4729	CLIP-seq
MIRT1233832	hsa-miR-4755-3p	CLIP-seq
MIRT1233833	hsa-miR-486-5p	CLIP-seq
MIRT1233834	hsa-miR-519a	CLIP-seq
MIRT1233835	hsa-miR-519b-3p	CLIP-seq
MIRT1233836	hsa-miR-519c-3p	CLIP-seq
MIRT1233837	hsa-miR-520a-3p	CLIP-seq
MIRT1233838	hsa-miR-520b	CLIP-seq
MIRT1233839	hsa-miR-520c-3p	CLIP-seq
MIRT1233840	hsa-miR-520d-3p	CLIP-seq
MIRT1233841	hsa-miR-520e	CLIP-seq
MIRT1233842	hsa-miR-545	CLIP-seq
MIRT1233843	hsa-miR-624	CLIP-seq
MIRT1233844	hsa-miR-655	CLIP-seq
MIRT1233845	hsa-miR-661	CLIP-seq
MIRT1233846	hsa-miR-889	CLIP-seq
MIRT2068834	hsa-miR-153	CLIP-seq
MIRT2068835	hsa-miR-3126-5p	CLIP-seq
MIRT2068836	hsa-miR-410	CLIP-seq
MIRT2068837	hsa-miR-4419a	CLIP-seq
MIRT2068838	hsa-miR-4423-3p	CLIP-seq
MIRT2068839	hsa-miR-448	CLIP-seq
MIRT2068840	hsa-miR-4510	CLIP-seq
MIRT2068841	hsa-miR-4777-5p	CLIP-seq
MIRT2068842	hsa-miR-4794	CLIP-seq
MIRT1233833	hsa-miR-486-5p	CLIP-seq
MIRT2068843	hsa-miR-501-3p	CLIP-seq
MIRT2068844	hsa-miR-502-3p	CLIP-seq
MIRT2068845	hsa-miR-518d-5p	CLIP-seq
MIRT2068846	hsa-miR-519b-5p	CLIP-seq
MIRT2068847	hsa-miR-519c-5p	CLIP-seq
MIRT2068848	hsa-miR-520c-5p	CLIP-seq
MIRT2068849	hsa-miR-526a	CLIP-seq
MIRT1233842	hsa-miR-545	CLIP-seq
MIRT2295886	hsa-miR-554	CLIP-seq
MIRT2295887	hsa-miR-642a	CLIP-seq
MIRT2392522	hsa-miR-3180-5p	CLIP-seq
MIRT2392523	hsa-miR-520a-5p	CLIP-seq
MIRT2392524	hsa-miR-525-5p	CLIP-seq
MIRT2456488	hsa-miR-1270	CLIP-seq
MIRT2456489	hsa-miR-1273f	CLIP-seq
MIRT2456490	hsa-miR-3148	CLIP-seq
MIRT2456491	hsa-miR-3688-3p	CLIP-seq
MIRT2456492	hsa-miR-4531	CLIP-seq
MIRT2456493	hsa-miR-4683	CLIP-seq
MIRT2456494	hsa-miR-620	CLIP-seq
MIRT2593913	hsa-miR-129-3p	CLIP-seq
MIRT2593914	hsa-miR-4786-3p	CLIP-seq
MIRT2593915	hsa-miR-5096	CLIP-seq
MIRT2593916	hsa-miR-938	CLIP-seq
MIRT2593913	hsa-miR-129-3p	CLIP-seq
MIRT2593914	hsa-miR-4786-3p	CLIP-seq
MIRT2593915	hsa-miR-5096	CLIP-seq
MIRT2593916	hsa-miR-938	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	21706016, 21988832, 28514442, 31980649, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0034134	Process	Toll-like receptor 2 signaling pathway	IEA
GO:0034134	Process	Toll-like receptor 2 signaling pathway	ISS
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IEA
GO:0034142	Process	Toll-like receptor 4 signaling pathway	ISS
GO:0034154	Process	Toll-like receptor 7 signaling pathway	IEA
GO:0034154	Process	Toll-like receptor 7 signaling pathway	ISS
GO:0034162	Process	Toll-like receptor 9 signaling pathway	IEA
GO:0034162	Process	Toll-like receptor 9 signaling pathway	ISS
GO:0036312	Function	Phosphatidylinositol 3-kinase regulatory subunit binding	IBA
GO:0036312	Function	Phosphatidylinositol 3-kinase regulatory subunit binding	IEA
GO:0036312	Function	Phosphatidylinositol 3-kinase regulatory subunit binding	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0050727	Process	Regulation of inflammatory response	ISS
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS

MIM	HGNC	e!Ensembl
607942	30034	ENSG00000155629

Q6ZUJ8

Protein name

Phosphoinositide 3-kinase adapter protein 1 (B-cell adapter for phosphoinositide 3-kinase) (B-cell phosphoinositide 3-kinase adapter protein 1)

Protein function

Signaling adapter that contributes to B-cell development by linking B-cell receptor (BCR) signaling to the phosphoinositide 3-kinase (PI3K)-Akt signaling pathway. Has a complementary role to the BCR coreceptor CD19, coupling BCR and PI3K activat

PDB

5FOR , 6SWS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18567	TIR_3	11 → 141	Toll/interleukin-1 receptor domain	Domain
PF14545	DBB	180 → 318	Dof, BCAP, and BANK (DBB) motif,	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in natural killer (NK) cells. {ECO:0000269|PubMed:18337558}.

Sequence

MAASGVPRGCDILIVYSPDAEEWCQYLQTLFLSSRQVRSQKILTHRLGPEASFSAEDLSL
FLSTRCVVVLLSAELVQHFHKPALLPLLQRAFHPPHRVVRLLCGVRDSEEFLDFFPDWAH
WQELTCDDEPETYVAAVKKAISEDSGCDSVTDTEPEDEKVVSYSKQQNLPTVTSPGNLMV
VQPDRIRCGAETTVYVIVRCKLDDRVATEAEFSPEDSPSVRMEAKVENEYTISVKAPNLS
SGNVSLKIYSGDLVVCETVISYYTDMEEIGNLLSNAANPVEFMCQAFKIVPYNTETLDKL
LTESLKNNIPASGLHLFGINQLEEEDMMTNQRDEELPTLLHFAAKYGLKNLTALLLTCPG
ALQAYSVANKHGHYPNTIAEKHGFRDLRQFIDEYVETVDMLKSHIKEELMHGEEADAVYE
SMAHLSTDLLMKCSLNPGCDEDLYESMAAFVPAATEDLYVEMLQASTSNPIPGDGFSRAT
KDSMIRKFLEGNSMGMTNLERDQCHLGQEEDVYHTVDDDEAFSVDLASRPPVPVPRPETT
APGAHQLPDNEPYIFKVFAEKSQERPGNFYVSSESIRKGPPVRPWRDRPQSSIYDPFAGM
KTPGQRQLITLQEQVKLGIVNVDEAVLHFKEWQLNQKKRSESFRFQQENLKRLRDSITRR
QREKQKSGKQTDLEITVPIRHSQHLPAKVEFGVYESGPRKSVIPPRTELRRGDWKTDSTS
STASSTSNRSSTRSLLSVSSGMEGDNEDNEVPEVTRSRSPGPPQVDGTPTMSLERPPRVP
PRAASQRPPTRETFHPPPPVPPRGR

Sequence length

805

Interactions

View interactions

	KEGG		Reactome
	PI3K-Akt signaling pathway B cell receptor signaling pathway		PIP3 activates AKT signaling Constitutive Signaling by Aberrant PI3K in Cancer PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling Antigen activates B Cell Receptor (BCR) leading to generation of second messengers

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 (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Germ cell tumor of testis	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infantile spasms	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PIK3AP1-Associated Seizure Disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PIK3AP1-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PIK3AP1-related early onset epileptic encephalopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	21625490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	26276688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	37264476	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	30552426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33053017	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	26121143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	26121143	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26276688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30552426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	30552426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33047898	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	24786473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31078520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31078520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30552426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32878513	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	21625490	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	27884671		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	GWASCAT_DG	30738427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31078520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomatitis Aphthous	Aphthous stomatitis	Pubtator	32793186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PIK3AP1 (phosphoinositide-3-kinase adaptor protein 1)