APBB1 - amyloid beta precursor protein binding family B member 1 Gene

Also Known as RIR; FE65; MGC:9072

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 322

About APBB1

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:6,395,124-6,419,453 (from NCBI)

This gene has 20 transcripts (splice variants), 208 orthologues and 2 paralogues. Broad expression in brain (RPKM 44.0), ovary (RPKM 11.7) and 17 other tissues.

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 lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating Thymidylate Synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]

APBB1 Products (8)

mRNA	Protein	Name
NM_001164.5	NP_001155.1	amyloid beta precursor protein binding family B member 1 isoform a
NM_001257319.3	NP_001244248.1	amyloid beta precursor protein binding family B member 1 isoform g
NM_001257320.2	NP_001244249.1	amyloid beta precursor protein binding family B member 1 isoform d
NM_001257321.2	NP_001244250.1	amyloid beta precursor protein binding family B member 1 isoform d
NM_001257323.3	NP_001244252.1	amyloid beta precursor protein binding family B member 1 isoform f
NM_001257325.3	NP_001244254.1	amyloid beta precursor protein binding family B member 1 isoform e
NM_001257326.2	NP_001244255.1	amyloid beta precursor protein binding family B member 1 isoform d
NM_145689.3	NP_663722.1	amyloid beta precursor protein binding family B member 1 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables chromatin binding	IDA IDA: Inferred from direct assay	19343227	GOA
enables histone binding	IPI IPI: Inferred from physical interaction	19234442	GOA
enables molecular adaptor activity	IDA IDA: Inferred from direct assay	36250347	GOA
enables proline-rich region binding	IPI IPI: Inferred from physical interaction	17686488	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8887653	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	25342469	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	18468999	GOA
involved in negative regulation of transcription by RNA polymerase II	IGI IGI: Inferred from genetic interaction	21803450	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	19343227	GOA
involved in positive regulation of apoptotic process	IDA IDA: Inferred from direct assay	18468999	GOA
involved in positive regulation of neuron projection development	IDA IDA: Inferred from direct assay	36250347	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	18468999	GOA
located in growth cone	IDA IDA: Inferred from direct assay	12843239	GOA
located in lamellipodium	IDA IDA: Inferred from direct assay	12843239	GOA
located in nucleus	IDA IDA: Inferred from direct assay	18468999	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	18468999	GOA
located in synapse	IDA IDA: Inferred from direct assay	12843239	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

APBB1 Protein Structure

PID

0
200
400
600
710 a.a.

Protein Preferred Names	Protein Names
amyloid beta precursor protein binding family B member 1	adaptor protein FE65a2

APBB1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	APBB1	O00213	LRP1	Homo sapiens	Q07954	NMR	21968187
Intra	APBB1	O00213	LRP1	Homo sapiens	Q07954	Pull Down	24284412
Intra	APBB1	O00213	EGFR	Homo sapiens	P00533	Protein Array	16273093
Intra	APBB1	O00213	APP	Homo sapiens	P05067-4	NMR	21968187
Intra	APBB1	O00213	APP	Homo sapiens	P05067-4	Pull Down	21968187
Intra	APBB1	O00213	ARF6	Homo sapiens	P62330	Y2H	24056087
Intra	APBB1	O00213	ARF6	Homo sapiens	P62330	Pull Down	24056087
Intra	APBB1	O00213	APP	Homo sapiens	P05067	Pull Down	24284412
Intra	APBB1	O00213	APP	Homo sapiens	P05067	Anti Tag CoIP	33961781
Intra	APBB1	O00213	APP	Homo sapiens	P05067	Anti Tag CoIP	8887653
Intra	APBB1	O00213	APP	Homo sapiens	P05067	Anti Bait CoIP	8887653
Intra	APBB1	O00213	APLP2	Homo sapiens	Q06481	Anti Tag CoIP	33961781
Cross	APBB1	O00213	Sv2a	Rattus norvegicus	Q02563	Confocal	24284412
Cross	APBB1	O00213	Sv2a	Rattus norvegicus	Q02563	Anti Tag CoIP	24284412
Cross	APBB1	O00213	Sv2a	Rattus norvegicus	Q02563	Anti Bait CoIP	24284412

Cross: Cross-species interaction Intra: Intraspecies interaction

APBB1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82313	FE65 Antibody (YA2058)	WB, IHC-P, ICC/IF	Human

Related Diseases

Diseases	Alias
Niemann-Pick Disease, Type A	Niemann-Pick Disease Type A Sphingomyelin Lipidosis Sphingomyelinase Deficiency Niemann-Pick Disease, Intermediate, Protracted Neurovisceral Acid Sphingomyelinase Deficiency, Neurovisceral Type Asmd, Neurovisceral Type Infantile Neurovisceral Acid Sphingomyelinase Deficiency Infantile Neurovisceral Asmd Npd-A Niemann-Pick Disease A NPDA Classical Niemann-Pick Disease Niemann-Pick Disease Acute Neuronopathic Form Niemann-Pick Disease Acute Neurovisceral Form Niemann-Pick Disease Classical Infantile Form Niemann-Pick Disease Intermediate Protracted Neurovisceral Niemann-Pick Disease Neuronopathic Type Niemann-Pick Disease Type I Npa Niemann-Pick Diseases
Niemann-Pick Disease, Type B	Niemann-Pick Disease Type B Acid Sphingomyelinase Deficiency, Visceral Type Asmd, Visceral Type Niemann Pick Disease Type B Chronic Visceral Acid Sphingomyelinase Deficiency Chronic Visceral Asmd Npd-B Niemann-Pick Disease B NPDB Niemann-Pick Disease Adult Non-Neuronopathic Form Niemann-Pick Disease Intermediate With Visceral Involvement And Rapid Progression Niemann-Pick Disease Type E Niemann-Pick Disease Type F Niemann-Pick Disease Type I Niemann-Pick Disease Visceral Form Npb Sphingomyelinase Deficiency Sphingomyelin Lipidosis Niemann-Picks Disease Type B Niemann-Pick Disease, Type E Niemann-Pick Diseases Niemann-Pick Disease, Type A
Niemann-Pick Disease	Sphingomyelin/Cholesterol Lipidosis Niemann-Pick Diseases Lipoid Histiocytosis Sphingomyelin Lipidosis Sphingomyelinase Deficiency Disease Lipid Histiocytosis Neuronal Cholesterol Lipidosis Neuronal Lipidosis Npd Sphingomyelinase Deficiency Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type C1	Niemann-Pick Disease, Type C NPC1 Niemann-Pick Disease, Type D Niemann-Pick Disease Type C1 Niemann-Pick Disease With Cholesterol Esterification Block Niemann-Pick Disease, Subacute Juvenile Form Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia Npc Niemann-Pick Disease, Chronic Neuronopathic Form Niemann-Pick Disease Without Sphingomyelinase Deficiency Niemann-Pick Disease Type C Niemann-Pick Disease Type D Niemann-Pick C1 Disease Niemann-Pick Disease C1 Niemann-Pick Disease Chronic Neuronopathic Form Niemann-Pick Disease Nova Scotian Type Niemann-Pick Disease Subacute Juvenile Form Niemann-Pick Disease Type Ii Niemann-Picks Disease Type C
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Dementia	Dementias Presenile Dementia Alzheimer Type Dementia Alzheimer Sclerosis Alzheimer Disease Dementia Alzheimer Dementia Primary Degenerative Alzheimer Type Dementia End Stage Alzheimer'S Dementia Alzheimer'S Type Atypical Dementia Alzheimer Type Presenile Dementia Early Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 2 Dementia In Alzheimer Disease With Early Onset Early Onset Alzheimer Type Dementia, Uncomplicated Primary Degenerative Alzheimer Type Dementia, Early Onset Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated Alzheimer Disease Dementia With Early Onset Presenile Sclerosis Presenile Brain Sclerosis Presenile Alzheimer Brain Sclerosis Late Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 1 Dementia In Alzheimer Disease With Late Onset Primary Degenerative Alzheimer Type Dementia, Late Onset Sdat - [Senile Dementia, Alzheimer Type] Alzheimer Disease Dementia With Late Onset Late Onset Alzheimer Brain Sclerosis Senile Alzheimer Brain Disease Senile Alzheimer Brain Sclerosis Senile Primary Degenerative Alzheimer Type Dementia Senile Dementia Of The Alzheimer Type Arteriosclerotic Dementia Strategic-Infarct Dementia Post Stroke Dementia Vascular Cognitive Impairment Vascular Dementia Dementia Of The Lewy Body Type Dementia With Lewy Bodies Sdlt - [Senile Dementia Of The Lewy Body Type] Senile Dementia Of The Lewy Body Type Alcohol-Related Dementia Alcoholic Dementia Nos Alcohol-Induced Dementia Alcoholic Brain Syndrome Chronic Alcoholic Brain Syndrome Alcohol Dementia Late Onset Alcoholic Psychosis Residual And Late-Onset Alcohol-Induced Psychotic Disorder Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder Late-Onset Psychoactive Substance-Induced Psychotic Disorder Inhalant Dementia Volatile Solvents Dementia Dementia In Paralysis Agitans Pdd - [Parkinson Disease Dementia] Dementia Syndrome Of Parkinson Disease Dementia In Parkinson Disease Parkinson Related Dementia Dementia In Huntington Chorea Hiv - [Human Immunodeficiency Virus] Dementia Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex Aids Related Dementia Dementia Due To Niacin Deficiency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00804	APBB1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS00805	APBB1IP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	APBB1	MGD	MGI:107765
Macaca mulatta	APBB1	VGNC	VGNC:69979
Felis catus	APBB1	VGNC	VGNC:67736
Bos taurus	APBB1	VGNC	VGNC:26003
Rattus norvegicus	APBB1	RGD	RGD:2122
Canis familiaris	APBB1	VGNC	VGNC:37977
Others	APBB1	NCBI