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	320
Gene name	Amyloid beta precursor protein binding family A member 1
Gene symbol	APBA1
Synonyms (NCBI Gene)	D9S411ELIN10MINT1X11X11AX11ALPHA
Chromosome	9
Chromosome location	9q21.12
Summary	The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer`s disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments in

186

Show/Hide all (186)

miRTarBase ID	miRNA	Experiments	Reference
MIRT719460	hsa-miR-132-3p	HITS-CLIP	19536157
MIRT719459	hsa-miR-212-3p	HITS-CLIP	19536157
MIRT719458	hsa-miR-2114-5p	HITS-CLIP	19536157
MIRT719457	hsa-miR-1470	HITS-CLIP	19536157
MIRT719456	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT719455	hsa-miR-6734-3p	HITS-CLIP	19536157
MIRT719454	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT719453	hsa-miR-635	HITS-CLIP	19536157
MIRT719452	hsa-miR-6774-5p	HITS-CLIP	19536157
MIRT719451	hsa-miR-1292-5p	HITS-CLIP	19536157
MIRT719450	hsa-miR-4471	HITS-CLIP	19536157
MIRT719449	hsa-miR-8059	HITS-CLIP	19536157
MIRT719448	hsa-miR-7977	HITS-CLIP	19536157
MIRT719447	hsa-miR-450a-1-3p	HITS-CLIP	19536157
MIRT719460	hsa-miR-132-3p	HITS-CLIP	19536157
MIRT719459	hsa-miR-212-3p	HITS-CLIP	19536157
MIRT719458	hsa-miR-2114-5p	HITS-CLIP	19536157
MIRT719457	hsa-miR-1470	HITS-CLIP	19536157
MIRT719456	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT719455	hsa-miR-6734-3p	HITS-CLIP	19536157
MIRT719454	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT719453	hsa-miR-635	HITS-CLIP	19536157
MIRT719452	hsa-miR-6774-5p	HITS-CLIP	19536157
MIRT719451	hsa-miR-1292-5p	HITS-CLIP	19536157
MIRT719450	hsa-miR-4471	HITS-CLIP	19536157
MIRT719449	hsa-miR-8059	HITS-CLIP	19536157
MIRT719448	hsa-miR-7977	HITS-CLIP	19536157
MIRT719447	hsa-miR-450a-1-3p	HITS-CLIP	19536157
MIRT788692	hsa-miR-1226	CLIP-seq
MIRT788693	hsa-miR-1228	CLIP-seq
MIRT788694	hsa-miR-128	CLIP-seq
MIRT788695	hsa-miR-139-3p	CLIP-seq
MIRT788696	hsa-miR-146b-3p	CLIP-seq
MIRT788697	hsa-miR-1827	CLIP-seq
MIRT788698	hsa-miR-194	CLIP-seq
MIRT788699	hsa-miR-3122	CLIP-seq
MIRT788700	hsa-miR-3145-3p	CLIP-seq
MIRT788701	hsa-miR-3173-5p	CLIP-seq
MIRT788702	hsa-miR-320a	CLIP-seq
MIRT788703	hsa-miR-320b	CLIP-seq
MIRT788704	hsa-miR-320c	CLIP-seq
MIRT788705	hsa-miR-320d	CLIP-seq
MIRT788706	hsa-miR-3619-3p	CLIP-seq
MIRT788707	hsa-miR-3620	CLIP-seq
MIRT788708	hsa-miR-3622a-3p	CLIP-seq
MIRT788709	hsa-miR-3622b-3p	CLIP-seq
MIRT788710	hsa-miR-3913-5p	CLIP-seq
MIRT788711	hsa-miR-4428	CLIP-seq
MIRT788712	hsa-miR-4429	CLIP-seq
MIRT788713	hsa-miR-4502	CLIP-seq
MIRT788714	hsa-miR-4517	CLIP-seq
MIRT788715	hsa-miR-4520b-3p	CLIP-seq
MIRT788716	hsa-miR-4529-3p	CLIP-seq
MIRT788717	hsa-miR-4533	CLIP-seq
MIRT788718	hsa-miR-4535	CLIP-seq
MIRT788719	hsa-miR-4643	CLIP-seq
MIRT788720	hsa-miR-4663	CLIP-seq
MIRT788721	hsa-miR-4666-5p	CLIP-seq
MIRT788722	hsa-miR-4693-3p	CLIP-seq
MIRT788723	hsa-miR-4698	CLIP-seq
MIRT788724	hsa-miR-4699-3p	CLIP-seq
MIRT788725	hsa-miR-4717-5p	CLIP-seq
MIRT788726	hsa-miR-4738-3p	CLIP-seq
MIRT788727	hsa-miR-4747-5p	CLIP-seq
MIRT788728	hsa-miR-4776-5p	CLIP-seq
MIRT788729	hsa-miR-486-5p	CLIP-seq
MIRT788730	hsa-miR-568	CLIP-seq
MIRT788731	hsa-miR-570	CLIP-seq
MIRT788732	hsa-miR-634	CLIP-seq
MIRT788733	hsa-miR-642b	CLIP-seq
MIRT788734	hsa-miR-874	CLIP-seq
MIRT788735	hsa-miR-9	CLIP-seq
MIRT1932621	hsa-miR-125a-5p	CLIP-seq
MIRT1932622	hsa-miR-125b	CLIP-seq
MIRT1932623	hsa-miR-1275	CLIP-seq
MIRT1932624	hsa-miR-1343	CLIP-seq
MIRT1932625	hsa-miR-3133	CLIP-seq
MIRT1932626	hsa-miR-4260	CLIP-seq
MIRT1932627	hsa-miR-4319	CLIP-seq
MIRT1932628	hsa-miR-4493	CLIP-seq
MIRT1932629	hsa-miR-4659a-3p	CLIP-seq
MIRT1932630	hsa-miR-4659b-3p	CLIP-seq
MIRT1932631	hsa-miR-4665-5p	CLIP-seq
MIRT1932632	hsa-miR-4732-3p	CLIP-seq
MIRT1932633	hsa-miR-670	CLIP-seq
MIRT788735	hsa-miR-9	CLIP-seq
MIRT2172885	hsa-miR-103a	CLIP-seq
MIRT2172886	hsa-miR-107	CLIP-seq
MIRT1932623	hsa-miR-1275	CLIP-seq
MIRT2172887	hsa-miR-1301	CLIP-seq
MIRT2172888	hsa-miR-1321	CLIP-seq
MIRT2172889	hsa-miR-24	CLIP-seq
MIRT2172890	hsa-miR-3192	CLIP-seq
MIRT2172891	hsa-miR-3688-5p	CLIP-seq
MIRT2172892	hsa-miR-3919	CLIP-seq
MIRT1932626	hsa-miR-4260	CLIP-seq
MIRT2172893	hsa-miR-4284	CLIP-seq
MIRT2172894	hsa-miR-4314	CLIP-seq
MIRT2172895	hsa-miR-4646-5p	CLIP-seq
MIRT1932629	hsa-miR-4659a-3p	CLIP-seq
MIRT1932630	hsa-miR-4659b-3p	CLIP-seq
MIRT788720	hsa-miR-4663	CLIP-seq
MIRT1932631	hsa-miR-4665-5p	CLIP-seq
MIRT2172896	hsa-miR-4684-3p	CLIP-seq
MIRT2172897	hsa-miR-4714-3p	CLIP-seq
MIRT788725	hsa-miR-4717-5p	CLIP-seq
MIRT2172898	hsa-miR-4728-5p	CLIP-seq
MIRT2172899	hsa-miR-4739	CLIP-seq
MIRT788727	hsa-miR-4747-5p	CLIP-seq
MIRT2172900	hsa-miR-4756-3p	CLIP-seq
MIRT2172901	hsa-miR-4756-5p	CLIP-seq
MIRT2172902	hsa-miR-5047	CLIP-seq
MIRT2172903	hsa-miR-665	CLIP-seq
MIRT788735	hsa-miR-9	CLIP-seq
MIRT1932623	hsa-miR-1275	CLIP-seq
MIRT2384290	hsa-miR-136	CLIP-seq
MIRT2384291	hsa-miR-181a	CLIP-seq
MIRT2384292	hsa-miR-181b	CLIP-seq
MIRT2384293	hsa-miR-181c	CLIP-seq
MIRT2384294	hsa-miR-181d	CLIP-seq
MIRT2384295	hsa-miR-3064-5p	CLIP-seq
MIRT1932626	hsa-miR-4260	CLIP-seq
MIRT2384296	hsa-miR-4262	CLIP-seq
MIRT2384297	hsa-miR-4276	CLIP-seq
MIRT2384298	hsa-miR-4492	CLIP-seq
MIRT2384299	hsa-miR-4498	CLIP-seq
MIRT1932629	hsa-miR-4659a-3p	CLIP-seq
MIRT1932630	hsa-miR-4659b-3p	CLIP-seq
MIRT1932631	hsa-miR-4665-5p	CLIP-seq
MIRT2384300	hsa-miR-604	CLIP-seq
MIRT2384301	hsa-miR-647	CLIP-seq
MIRT2384302	hsa-miR-762	CLIP-seq
MIRT788735	hsa-miR-9	CLIP-seq
MIRT2476058	hsa-miR-1253	CLIP-seq
MIRT2476059	hsa-miR-1254	CLIP-seq
MIRT1932624	hsa-miR-1343	CLIP-seq
MIRT2476060	hsa-miR-147b	CLIP-seq
MIRT2384291	hsa-miR-181a	CLIP-seq
MIRT2384292	hsa-miR-181b	CLIP-seq
MIRT2384293	hsa-miR-181c	CLIP-seq
MIRT2384294	hsa-miR-181d	CLIP-seq
MIRT2476061	hsa-miR-2392	CLIP-seq
MIRT2476062	hsa-miR-2682	CLIP-seq
MIRT2476063	hsa-miR-3116	CLIP-seq
MIRT2476064	hsa-miR-3117-5p	CLIP-seq
MIRT2476065	hsa-miR-3127-3p	CLIP-seq
MIRT2476066	hsa-miR-3130-3p	CLIP-seq
MIRT2476067	hsa-miR-342-5p	CLIP-seq
MIRT788706	hsa-miR-3619-3p	CLIP-seq
MIRT2476068	hsa-miR-3653	CLIP-seq
MIRT2476069	hsa-miR-3658	CLIP-seq
MIRT2476070	hsa-miR-3679-3p	CLIP-seq
MIRT2476071	hsa-miR-3714	CLIP-seq
MIRT2384296	hsa-miR-4262	CLIP-seq
MIRT2384297	hsa-miR-4276	CLIP-seq
MIRT2172893	hsa-miR-4284	CLIP-seq
MIRT2476072	hsa-miR-4299	CLIP-seq
MIRT2476073	hsa-miR-4434	CLIP-seq
MIRT2476074	hsa-miR-4448	CLIP-seq
MIRT2476075	hsa-miR-4455	CLIP-seq
MIRT2476076	hsa-miR-4456	CLIP-seq
MIRT2476077	hsa-miR-449c	CLIP-seq
MIRT2476078	hsa-miR-4516	CLIP-seq
MIRT2476079	hsa-miR-4531	CLIP-seq
MIRT2476080	hsa-miR-4651	CLIP-seq
MIRT2476081	hsa-miR-4664-5p	CLIP-seq
MIRT2476082	hsa-miR-4746-3p	CLIP-seq
MIRT788728	hsa-miR-4776-5p	CLIP-seq
MIRT2476083	hsa-miR-4793-3p	CLIP-seq
MIRT2476084	hsa-miR-502-5p	CLIP-seq
MIRT2476085	hsa-miR-548an	CLIP-seq
MIRT2476086	hsa-miR-548q	CLIP-seq
MIRT2476087	hsa-miR-608	CLIP-seq
MIRT2476088	hsa-miR-609	CLIP-seq
MIRT2476089	hsa-miR-661	CLIP-seq
MIRT2476090	hsa-miR-940	CLIP-seq
MIRT2675127	hsa-miR-296-5p	CLIP-seq
MIRT2476065	hsa-miR-3127-3p	CLIP-seq
MIRT2476066	hsa-miR-3130-3p	CLIP-seq
MIRT2675128	hsa-miR-3622b-5p	CLIP-seq
MIRT2476068	hsa-miR-3653	CLIP-seq
MIRT2476069	hsa-miR-3658	CLIP-seq
MIRT2476070	hsa-miR-3679-3p	CLIP-seq
MIRT2476071	hsa-miR-3714	CLIP-seq
MIRT2476074	hsa-miR-4448	CLIP-seq
MIRT2476083	hsa-miR-4793-3p	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IBA
GO:0001701	Process	In utero embryonic development	IEA
GO:0005515	Function	Protein binding	IPI	8887653, 11083918, 16007100, 20531236, 21763699, 23737971, 31413325, 33961781, 35914814
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006886	Process	Intracellular protein transport	TAS	9614075
GO:0007155	Process	Cell adhesion	TAS	9753324
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	9753324
GO:0007399	Process	Nervous system development	TAS	9753324
GO:0007626	Process	Locomotory behavior	IEA
GO:0008021	Component	Synaptic vesicle	TAS	9753324
GO:0008088	Process	Axo-dendritic transport	TAS	9822620
GO:0010468	Process	Regulation of gene expression	IEA
GO:0014047	Process	Glutamate secretion	IEA
GO:0014051	Process	Gamma-aminobutyric acid secretion	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0043197	Component	Dendritic spine	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0065003	Process	Protein-containing complex assembly	TAS	9614075, 9753324
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IEA

MIM	HGNC	e!Ensembl
602414	578	ENSG00000107282

Q02410

Protein name

Amyloid-beta A4 precursor protein-binding family A member 1 (Adapter protein X11alpha) (Neuron-specific X11 protein) (Neuronal Munc18-1-interacting protein 1) (Mint-1)

Protein function

Putative function in synaptic vesicle exocytosis by binding to Munc18-1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the amyloid-beta precursor protein (APP) and hence formation of APP-beta. Co

PDB

1AQC , 1U37 , 1U38 , 1U39 , 1U3B , 1X11 , 1X45 , 1Y7N

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00640	PID	461 → 618	Phosphotyrosine interaction domain (PTB/PID)	Domain
PF00595	PDZ	656 → 740	PDZ domain	Domain
PF00595	PDZ	747 → 820	PDZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Brain and spinal cord. Isoform 2 is expressed in testis and brain, but not detected in lung, liver or spleen. {ECO:0000269|PubMed:23737971}.

Sequence

MNHLEGSAEVEVTDEAAGGEVNESVEADLEHPEVEEEQQQPPQQQHYVGRHQRGRALEDL
RAQLGQEEEERGECLARSASTESGFHNHTDTAEGDVIAAARDGYDAERAQDPEDESAYAV
QYRPEAEEYTEQAEAEHAEATHRRALPNHLHFHSLEHEEAMNAAYSGYVYTHRLFHRGED
EPYSEPYADYGGLQEHVYEEIGDAPELDARDGLRLYEQERDEAAAYRQEALGARLHHYDE
RSDGESDSPEKEAEFAPYPRMDSYEQEEDIDQIVAEVKQSMSSQSLDKAAEDMPEAEQDL
ERPPTPAGGRPDSPGLQAPAGQQRAVGPAGGGEAGQRYSKEKRDAISLAIKDIKEAIEEV
KTRTIRSPYTPDEPKEPIWVMRQDISPTRDCDDQRPMDGDSPSPGSSSPLGAESSSTSLH
PSDPVEASTNKESRKSLASFPTYVEVPGPCDPEDLIDGIIFAANYLGSTQLLSDKTPSKN
VRMMQAQEAVSRIKMAQKLAKSRKKAPEGESQPMTEVDLFISTQRIKVLNADTQETMMDH
PLRTISYIADIGNIVVLMARRRMPRSNSQENVEASHPSQDGKRQYKMICHVFESEDAQLI
AQSIGQAFSVAYQEFLRANGINPEDLSQKEYSDLLNTQDMYNDDLIHFSKSENCKDVFIE
KQKGEILGVVIVESGWGSILPTVIIANMMHGGPAEKSGKLNIGDQIMSINGTSLVGLPLS
TCQSIIKGLKNQSRVKLNIVRCPPVTTVLIRRPDLRYQLGFSVQNGIICSLMRGGIAERG
GVRVGHRIIEINGQSVVATPHEKIVHILSNAVGEIHMKTMPAAMYRLLTAQEQPVYI

Sequence length

837

Interactions

View interactions

	Reactome
			Dopamine Neurotransmitter Release Cycle

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 (3)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	15064707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12598316, 27771773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	17620311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22355143, 26417591, 27046643	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	12730870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	12213730	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12414620, 21625944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	12569385, 17947473, 18834226, 19737982, 29869456, 34092617	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	18271923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	15340260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	21625944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Memory dysfunction	Memory Disorders	BEFREE	20378958		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15340260, 18271923, 18765545, 19737982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	20520817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	31374203		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11891177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	20160714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	18843024	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

APBA1 (amyloid beta precursor protein binding family A member 1)