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

Summary

Official Symbol: APBA3provided by HGNC
Official Full Name: amyloid beta precursor protein binding family A member 3provided by HGNC
Primary source: HGNC:HGNC:580
See related: Ensembl:ENSG00000011132 MIM:604262; AllianceGenome:HGNC:580
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]
Expression: Ubiquitous expression in spleen (RPKM 4.7), appendix (RPKM 3.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (3750772..3761692, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (3730024..3740952, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (3750770..3761690, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mint3-depletion-induced energy stress sensitizes triple-negative breast cancer to chemotherapy via HSF1 inactivation.
Title: Mint3-depletion-induced energy stress sensitizes triple-negative breast cancer to chemotherapy via HSF1 inactivation.
Structural and thermodynamical insights into the binding and inhibition of FIH-1 by the N-terminal disordered region of Mint3.
Title: Structural and thermodynamical insights into the binding and inhibition of FIH-1 by the N-terminal disordered region of Mint3.
Mint3 depletion restricts tumor malignancy of pancreatic cancer cells by decreasing SKP2 expression via HIF-1.
Title: Mint3 depletion restricts tumor malignancy of pancreatic cancer cells by decreasing SKP2 expression via HIF-1.
Results suggest that NECAB3, a novel Mint3-binding protein, activates HIF-1 to promote normoxic glycolysis and tumorigenicity by forming a ternary complex with Mint3 and FIH-1.
Title: NECAB3 Promotes Activation of Hypoxia-inducible factor-1 during Normoxia and Enhances Tumourigenicity of Cancer Cells.
FIH-1-Mint3 axis does not control HIF-1 transcriptional activity in nucleus pulposus cells.
Title: FIH-1-Mint3 axis does not control HIF-1 transcriptional activity in nucleus pulposus cells.
Mints are necessary for activity-induced APP and PS1 trafficking and provide insight into the cellular fate of APP in endocytic pathways essential for Abeta production.
Title: Mint proteins are required for synaptic activity-dependent amyloid precursor protein (APP) trafficking and amyloid β generation.
Strict specificity for recruitment of the Mint3 adaptor by APP at the Golgi, a critical role for Tyr-682 (within the YENPTY motif) in Mint3 recruitment and export of APP from the Golgi, are demonstrated.
Title: Recruitment of the Mint3 adaptor is necessary for export of the amyloid precursor protein (APP) from the Golgi complex.
These results indicate that all three amyloid beta protein precursor family members are capable of activating gene transcription via Mint3-Taz and Mint3-Yap.
Title: Signaling via amyloid precursor-like proteins APLP1 and APLP2.
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.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79570 (e-PCR)
- UniSTS:84249

GDB:314949 (e-PCR)
- UniSTS:156503

RH78751 (e-PCR)
- UniSTS:5723

RH103039 (e-PCR)
- UniSTS:97373

D17S1136 (e-PCR)
- UniSTS:473214

D11S2612 (e-PCR)
- UniSTS:70572

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables amyloid-beta binding	IBA Inferred from Biological aspect of Ancestor more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables enzyme inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of catalytic activity	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of gene expression	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in dendritic spine	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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

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

NCBI Reference Sequences (RefSeq)

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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_004886.4 → NP_004877.1 amyloid-beta A4 precursor protein-binding family A member 3

See identical proteins and their annotated locations for NP_004877.1

Status: REVIEWED

Source sequence(s)

AB021638, AC005954, BG938716, BI910038, BM977984, BQ707748

Consensus CDS

CCDS12110.1

UniProtKB/Swiss-Prot

O60483, O96018, Q9UPZ2

Related

ENSP00000315136.2, ENST00000316757.4

Conserved Domains (4) summary

cd00992
Location:483 → 556

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) ...

cd01208
Location:212 → 364

PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain

pfam00595
Location:394 → 477

PDZ; PDZ domain (Also known as DHR or GLGF)

cl25865
Location:127 → 198

Trypan_PARP; Procyclic acidic repetitive protein (PARP)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

3750772..3761692 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006722950.5 → XP_006723013.1 amyloid-beta A4 precursor protein-binding family A member 3 isoform X1

Conserved Domains (2) summary

cd01208
Location:212 → 364

PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain

pfam00595
Location:394 → 477

PDZ; PDZ domain (Also known as DHR or GLGF)
XM_006722951.4 → XP_006723014.1 amyloid-beta A4 precursor protein-binding family A member 3 isoform X2

Conserved Domains (2) summary

cd01208
Location:1 → 122

PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain

pfam00595
Location:152 → 235

PDZ; PDZ domain (Also known as DHR or GLGF)

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

3730024..3740952 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054322742.1 → XP_054178717.1 amyloid-beta A4 precursor protein-binding family A member 3 isoform X1
XM_054322743.1 → XP_054178718.1 amyloid-beta A4 precursor protein-binding family A member 3 isoform X2