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APBA1 - amyloid beta precursor protein binding family A member 1 Gene

Also Known as X11; X11A; LIN10; MINT1; D9S411E; X11ALPHA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 320

About APBA1

Cytogenetic location: 9q21.12 Genomic coordinates (GRCh38): 9:69,427,532-69,673,013 (from NCBI)

This gene has 4 transcripts (splice variants), 1 gene allele, 271 orthologues and 4 paralogues. Broad expression in brain (RPKM 13.2), spleen (RPKM 2.4) and 17 other tissues.

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 including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008]

APBA1 Products (1)

mRNA	Protein	Name
NM_001163.4	NP_001154.2	amyloid-beta A4 precursor protein-binding family A member 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	8887653	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

APBA1 Protein Structure

PID

PDZ

0
200
400
600
800
837 a.a.

Protein Preferred Names	Protein Names
amyloid-beta A4 precursor protein-binding family A member 1	adapter protein X11alpha

APBA1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	APBA1	Q02410	CASK	Homo sapiens	O14936	Anti Tag CoIP	33961781
Intra	APBA1	Q02410	APP	Homo sapiens	P05067	Anti Bait CoIP	8887653
Intra	APBA1	Q02410	APP	Homo sapiens	P05067	Anti Tag CoIP	8887653
Intra	APBA1	Q02410	APP	Homo sapiens	P05067	Y2H Fragment Pooling	35914814

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Syndromic X-Linked Intellectual Disability Najm Type	Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Micpch X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome
Friedreich Ataxia	Friedreich Ataxia 1 FRDA Friedreich Ataxia With Retained Reflexes Frda1 Fa Friedreich'S Ataxia Hereditary Spinal Ataxia Fa1 Friedreich'S Tabes Hereditary Spinal Sclerosis Spinocerebellar Ataxia, Friedreich Friedreich Spinocerebellar Ataxia Friedrich'S Ataxia
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
Villous Adenoma	Adenoma Villous Adenoma, Villous
Lynch Syndrome	Hereditary Nonpolyposis Colon Cancer Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Carcinoma Hereditary Nonpolyposis Colorectal Neoplasms Familial Nonpolyposis Colon Cancer Hnpcc Coca 1 Hereditary Defective Mismatch Repair Syndrome Hereditary Non-Polyposis Colon Cancer Hereditary Non-Polyposis Colon Cancer Syndrome Hereditary Non-Polyposis Colorectal Cancer Hereditary Non-Polyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colon Cancer Syndrome Hereditary Nonpolyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colorectal Neoplasm Hnpcc - Hereditary Nonpolyposis Colon Cancer Cancer Family Syndrome Familial Nonpolyposis Colorectal Cancer Colon Cancer, Familial Nonpolyposis Colorectal Neoplasms, Hereditary Nonpolyposis Cancer, Colorectal, Nonpolyposis, Hereditary Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS00802	APBA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W751932	Carboxy-EG6-undecanethiol		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	APBA1	VGNC	VGNC:69976
Felis catus	APBA1	VGNC	VGNC:102900
Mus musculus	APBA1	MGD	MGI:1860297
Rattus norvegicus	APBA1	RGD	RGD:620844
Bos taurus	APBA1	VGNC	VGNC:26000
Canis familiaris	APBA1	VGNC	VGNC:37974
Others	APBA1	NCBI