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	322
Gene name	Amyloid beta precursor protein binding family B member 1
Gene symbol	APBB1
Synonyms (NCBI Gene)	FE65MGC:9072RIR
Chromosome	11
Chromosome location	11p15.4
Summary	The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer`s disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density li

Show/Hide all (78)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017493	hsa-miR-335-5p	Microarray	18185580
MIRT019356	hsa-miR-148b-3p	Microarray	17612493
MIRT043469	hsa-miR-331-3p	CLASH	23622248
MIRT1932634	hsa-miR-1909	CLIP-seq
MIRT1932635	hsa-miR-4641	CLIP-seq
MIRT2476091	hsa-miR-1825	CLIP-seq
MIRT2476092	hsa-miR-199a-5p	CLIP-seq
MIRT2476093	hsa-miR-199b-5p	CLIP-seq
MIRT2476094	hsa-miR-2115	CLIP-seq
MIRT2476095	hsa-miR-3074-5p	CLIP-seq
MIRT2476096	hsa-miR-3136-3p	CLIP-seq
MIRT2476097	hsa-miR-3176	CLIP-seq
MIRT2476098	hsa-miR-3665	CLIP-seq
MIRT2476099	hsa-miR-370	CLIP-seq
MIRT2476100	hsa-miR-3922-3p	CLIP-seq
MIRT2476101	hsa-miR-3925-3p	CLIP-seq
MIRT2476102	hsa-miR-3977	CLIP-seq
MIRT2476103	hsa-miR-4268	CLIP-seq
MIRT2476104	hsa-miR-4292	CLIP-seq
MIRT2476105	hsa-miR-4308	CLIP-seq
MIRT2476106	hsa-miR-4434	CLIP-seq
MIRT2476107	hsa-miR-4446-3p	CLIP-seq
MIRT2476108	hsa-miR-4448	CLIP-seq
MIRT2476109	hsa-miR-4450	CLIP-seq
MIRT2476110	hsa-miR-4492	CLIP-seq
MIRT2476111	hsa-miR-4498	CLIP-seq
MIRT2476112	hsa-miR-4516	CLIP-seq
MIRT2476113	hsa-miR-4531	CLIP-seq
MIRT2476114	hsa-miR-4534	CLIP-seq
MIRT2476115	hsa-miR-4643	CLIP-seq
MIRT2476116	hsa-miR-4685-5p	CLIP-seq
MIRT2476117	hsa-miR-4717-3p	CLIP-seq
MIRT2476118	hsa-miR-4731-3p	CLIP-seq
MIRT2476119	hsa-miR-4747-5p	CLIP-seq
MIRT2476120	hsa-miR-4801	CLIP-seq
MIRT2476121	hsa-miR-494	CLIP-seq
MIRT2476122	hsa-miR-508-5p	CLIP-seq
MIRT2476123	hsa-miR-516a-3p	CLIP-seq
MIRT2476124	hsa-miR-589	CLIP-seq
MIRT2476125	hsa-miR-670	CLIP-seq
MIRT2476126	hsa-miR-762	CLIP-seq
MIRT2476091	hsa-miR-1825	CLIP-seq
MIRT2476092	hsa-miR-199a-5p	CLIP-seq
MIRT2476093	hsa-miR-199b-5p	CLIP-seq
MIRT2476094	hsa-miR-2115	CLIP-seq
MIRT2476095	hsa-miR-3074-5p	CLIP-seq
MIRT2476096	hsa-miR-3136-3p	CLIP-seq
MIRT2476097	hsa-miR-3176	CLIP-seq
MIRT2675131	hsa-miR-34c-3p	CLIP-seq
MIRT2476098	hsa-miR-3665	CLIP-seq
MIRT2476099	hsa-miR-370	CLIP-seq
MIRT2476100	hsa-miR-3922-3p	CLIP-seq
MIRT2476101	hsa-miR-3925-3p	CLIP-seq
MIRT2476102	hsa-miR-3977	CLIP-seq
MIRT2476103	hsa-miR-4268	CLIP-seq
MIRT2476104	hsa-miR-4292	CLIP-seq
MIRT2476105	hsa-miR-4308	CLIP-seq
MIRT2476106	hsa-miR-4434	CLIP-seq
MIRT2476107	hsa-miR-4446-3p	CLIP-seq
MIRT2476108	hsa-miR-4448	CLIP-seq
MIRT2476109	hsa-miR-4450	CLIP-seq
MIRT2476110	hsa-miR-4492	CLIP-seq
MIRT2476111	hsa-miR-4498	CLIP-seq
MIRT2476112	hsa-miR-4516	CLIP-seq
MIRT2476113	hsa-miR-4531	CLIP-seq
MIRT2476114	hsa-miR-4534	CLIP-seq
MIRT2476115	hsa-miR-4643	CLIP-seq
MIRT2476116	hsa-miR-4685-5p	CLIP-seq
MIRT2476117	hsa-miR-4717-3p	CLIP-seq
MIRT2476118	hsa-miR-4731-3p	CLIP-seq
MIRT2476119	hsa-miR-4747-5p	CLIP-seq
MIRT2476120	hsa-miR-4801	CLIP-seq
MIRT2476121	hsa-miR-494	CLIP-seq
MIRT2476122	hsa-miR-508-5p	CLIP-seq
MIRT2476123	hsa-miR-516a-3p	CLIP-seq
MIRT2476124	hsa-miR-589	CLIP-seq
MIRT2476125	hsa-miR-670	CLIP-seq
MIRT2476126	hsa-miR-762	CLIP-seq

Show/Hide all (46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IGI	21803450
GO:0001540	Function	Amyloid-beta binding	IBA
GO:0001540	Function	Amyloid-beta binding	IEA
GO:0003682	Function	Chromatin binding	IDA	19343227
GO:0003713	Function	Transcription coactivator activity	TAS	12153398
GO:0005515	Function	Protein binding	IPI	8887653, 9461550, 12972431, 16049941, 16273093, 17332754, 18468999, 19234442, 19343227, 21968187, 24056087, 24284412, 26045787, 30664241, 31413325, 32296183, 32814053, 33961781, 35914814
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	18468999, 19343227
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	18468999
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005886	Component	Plasma membrane	IDA	18468999
GO:0005886	Component	Plasma membrane	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0006915	Process	Apoptotic process	IEA
GO:0006939	Process	Smooth muscle contraction	ISS
GO:0006974	Process	DNA damage response	IBA
GO:0006974	Process	DNA damage response	IDA	18468999
GO:0006974	Process	DNA damage response	IEA
GO:0007165	Process	Signal transduction	NAS	8894693
GO:0007409	Process	Axonogenesis	NAS	12843239
GO:0010976	Process	Positive regulation of neuron projection development	IDA	36250347
GO:0010976	Process	Positive regulation of neuron projection development	IDA	36250347
GO:0016020	Component	Membrane	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0030027	Component	Lamellipodium	IDA	12843239
GO:0030426	Component	Growth cone	IDA	12843239
GO:0030426	Component	Growth cone	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	25342469
GO:0042393	Function	Histone binding	IPI	19234442
GO:0042995	Component	Cell projection	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	18468999
GO:0045202	Component	Synapse	IDA	12843239
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	19343227
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS	12153398
GO:0050714	Process	Positive regulation of protein secretion	TAS	12153398
GO:0050750	Function	Low-density lipoprotein particle receptor binding	TAS	12153398
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0060090	Function	Molecular adaptor activity	IDA	36250347
GO:0070064	Function	Proline-rich region binding	IPI	17686488
GO:1902807	Process	Negative regulation of cell cycle G1/S phase transition	ISS

MIM	HGNC	e!Ensembl
602709	581	ENSG00000166313

O00213

Protein name

Amyloid beta precursor protein binding family B member 1 (Amyloid-beta A4 precursor protein-binding family B member 1) (Protein Fe65)

Protein function

Transcription coregulator that can have both coactivator and corepressor functions (PubMed:15031292, PubMed:18468999, PubMed:18922798, PubMed:25342469, PubMed:33938178). Adapter protein that forms a transcriptionally active complex with the gamm

PDB

2E45 , 2HO2 , 2IDH , 2OEI , 3D8D , 3D8E , 3D8F , 3DXC , 3DXD , 3DXE , 5NQH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00397	WW	255 → 283	WW domain	Domain
PF00640	PID	370 → 509	Phosphotyrosine interaction domain (PTB/PID)	Domain
PF00640	PID	543 → 664	Phosphotyrosine interaction domain (PTB/PID)	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain; strongly reduced in post-mortem elderly subjects with Alzheimer disease. {ECO:0000269|PubMed:19343227}.; TISSUE SPECIFICITY: [Isoform 4]: Expressed preferentially in the brain. {ECO:0000269|PubMed:21824145}.

Sequence

MSVPSSLSQSAINANSHGGPALSLPLPLHAAHNQLLNAKLQATAVGPKDLRSAMGEGGGP
EPGPANAKWLKEGQNQLRRAATAHRDQNRNVTLTLAEEASQEPEMAPLGPKGLIHLYSEL
ELSAHNAANRGLRGPGLIISTQEQGPDEGEEKAAGEAEEEEEDDDDEEEEEDLSSPPGLP
EPLESVEAPPRPQALTDGPREHSKSASLLFGMRNSAASDEDSSWATLSQGSPSYGSPEDT
DSFWNPNAFETDSDLPAGWMRVQDTSGTYYWHIPTGTTQWEPPGRASPSQGSSPQEESQL
TWTGFAHGEGFEDGEFWKDEPSDEAPMELGLKEPEEGTLTFPAQSLSPEPLPQEEEKLPP
RNTNPGIKCFAVRSLGWVEMTEEELAPGRSSVAVNNCIRQLSYHKNNLHDPMSGGWGEGK
DLLLQLEDETLKLVEPQSQALLHAQPIISIRVWGVGRDSGRERDFAYVARDKLTQMLKCH
VFRCEAPAKNIATSLHEICSKIMAERRNARCLVNGLSLDHSKLVDVPFQVEFPAPKNELV
QKFQVYYLGNVPVAKPVGVDVINGALESVLSSSSREQWTPSHVSVAPATLTILHQQTEAV
LGECRVRFLSFLAVGRDVHTFAFIMAAGPASFCCHMFWCEPNAASLSEAVQAACMLRYQK
CLDARSQASTSCLPAPPAESVARRVGWTVRRGVQSLWGSLKPKRLGAHTP

Sequence length

710

Interactions

View interactions

	KEGG		Reactome
	Alzheimer disease		Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks

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 (5)

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.
ALZHEIMERS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APBB1-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE, TYPE A	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE, TYPE B	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (25)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	12951770, 17170108, 18550529, 18777128, 21415543, 23167255, 26166158, 28323844, 32751526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22952038	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	12727304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	11065130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	33562221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	24853428	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24619425, 26166158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24619425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26166158	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	9045663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27531462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	1923810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29073110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24619425, 26166158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27836546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	27531462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	LHGDN	14569203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28323844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	28323844	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	18777128, 24619425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	18777128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	18777128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	18777128	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Resistance to Insulin-Like Growth Factor I	IGF-I RESISTANCE	BEFREE	27836546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	21824145		★★★★★ ★☆☆☆☆ Found in Text Mining only

APBB1 (amyloid beta precursor protein binding family B member 1)