APBA3 amyloid beta (A4) precursor protein-binding, family A, member 3 [Homo sapiens] - Gene

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Summary

Official Symbol: APBA3provided by HGNC
Official Full Name: amyloid beta (A4) precursor protein-binding, family A, member 3provided by HGNC
Primary source: HGNC:580
See related: Ensembl:ENSG00000011132; HPRD:05038; MIM:604262
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: X11L2; mint3; MGC:15815
Summary: The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's disease. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 19p13.3

Sequence :: Chromosome: 19; NC_000019.9 (3750771..3761673, complement)

See APBA3 in Epigenomics, MapViewer

Chromosome 19 - NC_000019.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
Two transcriptional coactivators, TAZ and YAP, functionally associate with amyloid precursor protein through Mint3 and form transcriptionally active triple protein complexes.
Title: Novel mediators of amyloid precursor protein signaling.
Mint3 regulates the FIH-1-HIF-1 pathway, which controls ATP production in macrophages
Title: Mint3 enhances the activity of hypoxia-inducible factor-1 (HIF-1) in macrophages by suppressing the activity of factor inhibiting HIF-1.
the interaction between the PTB domain of Mint3 and the acidic peptide signal of Furin regulates the specific localization of Furin in the trans-Golgi network
Title: Interaction of Mint3 with Furin regulates the localization of Furin in the trans-Golgi network.
These data implicate Mint3 activity as a critical determinant of post-Golgi APP traffic.
Title: Mint3/X11gamma is an ADP-ribosylation factor-dependent adaptor that regulates the traffic of the Alzheimer's Precursor protein from the trans-Golgi network.
Mint-3 regulates the retrieval of the internalized membrane-type matrix metalloproteinase, MT5-MMP, to the plasma membrane by binding to its carboxyl end motif EWV
Title: Mint-3 regulates the retrieval of the internalized membrane-type matrix metalloproteinase, MT5-MMP, to the plasma membrane by binding to its carboxyl end motif EWV.
Associated with etilogical mechanism of Alzheimer's disease.
Title: [Recent advances in Alzheimer's disease].
We have examined the ability of Bcr to interact with other epithelial PDZ proteins and found specific binding to both the apical PDZK1 protein and the Golgi-localized Mint3
Title: Bcr (breakpoint cluster region) protein binds to PDZ-domains of scaffold protein PDZK1 and vesicle coat protein Mint3.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
O96018	P05067	APP	HPRD	PubMed
O96018	P11274	BCR	HPRD	PubMed
BioGRID:114920	BioGRID:106848	APP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:114920	BioGRID:122142	AZI2	BioGRID	PubMed	Affinity Capture-MS; Reconstituted Complex
BioGRID:114920	BioGRID:111643	PSEN2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114920	BioGRID:115328	TANK	BioGRID	PubMed	Affinity Capture-MS; Reconstituted Complex
BioGRID:114920	BioGRID:115103	TBKBP1	BioGRID	PubMed	Affinity Capture-MS; Reconstituted Complex

Function	Evidence Code	Pubs
beta-amyloid binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
in utero embryonic development	IEA Inferred from Electronic Annotation more info
intracellular signal transduction	NAS Non-traceable Author Statement more info
protein transport	IEA Inferred from Electronic Annotation more info
regulation of gene expression	IEA Inferred from Electronic Annotation more info
synaptic transmission	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
intracellular	NAS Non-traceable Author Statement more info
membrane	NAS Non-traceable Author Statement more info

General protein information

Preferred Names: amyloid beta A4 precursor protein-binding family A member 3

Names: amyloid beta A4 precursor protein-binding family A member 3; mint-3; X11-like 2 protein; adapter protein X11gamma; neuron-specific X11L2 protein; neuronal munc18-1-interacting protein 3; phosphotyrosine-binding/-interacting domain (PTB)-bearing protein; amyloid beta (A4) precursor protein-binding, family A, member 3 (X11-like 2)

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_004886.3 → NP_004877.1 amyloid beta A4 precursor protein-binding family A member 3

Status: REVIEWED

Source sequence(s)

AB021638, BG938716, BI910038, BM977984, BQ707748

Consensus CDS

CCDS12110.1

UniProtKB/Swiss-Prot

O96018

Related

ENSP00000315136, ENST00000316757

Conserved Domains (2) summary

cd00992
Location:483 – 556
Blast Score: 149

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cl00273
Location:215 – 362
Blast Score: 402

PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000019.9 Reference GRCh37.p5 Primary Assembly

Range

3750771..3761673, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000151.1 Alternate HuRef

Range

3515484..3526388, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB023431.1	BAA83094.1
genomic	AB024411.1	BAA83517.1
genomic	AC005954.1	AAC72275.1
genomic	CH471139.2	EAW69290.1
		EAW69291.1
mRNA	AB021638.1	BAA74430.1
mRNA	AB209603.1	BAD92840.1
mRNA	AF029110.1	AAC17979.1
mRNA	BC008338.1	None
mRNA	BC086306.1	AAH86306.1
mRNA	BG938716.1	None
mRNA	BI910038.1	None
mRNA	BM977984.1	None
mRNA	BQ707748.1	None

Protein Accession	Links
Protein Accession	GenePept Link	UniProtKB Link
O96018.1	GenPept	UniProtKB/Swiss-Prot:O96018
Q59F58	GenPept	UniProtKB/TrEMBL:Q59F58
Q9UPY9	GenPept	UniProtKB/TrEMBL:Q9UPY9
Q9UPZ2	GenPept	UniProtKB/TrEMBL:Q9UPZ2