Apba1 amyloid beta precursor protein binding family A member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Apba1provided by MGI
Official Full Name: amyloid beta precursor protein binding family A member 1provided by MGI
Primary source: MGI:MGI:1860297
See related: Ensembl:ENSMUSG00000024897 AllianceGenome:MGI:1860297
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: X11; Mint; Mint1; Lin-10; Urop11; X11alpha; 6430513E09Rik
Summary: Predicted to enable several functions, including PDZ domain binding activity; amyloid-beta binding activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in presynaptic modulation of chemical synaptic transmission. Acts upstream of or within several processes, including carboxylic acid transport; in utero embryonic development; and locomotory behavior. Located in membrane. Is active in Schaffer collateral - CA1 synapse; glutamatergic synapse; and presynaptic active zone membrane. Is expressed in central nervous system and dorsal root ganglion. Orthologous to human APBA1 (amyloid beta precursor protein binding family A member 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in cortex adult (RPKM 21.6), cerebellum adult (RPKM 21.4) and 17 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 B; 19 18.45 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (23736170..23926961)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (23758806..23949598)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Tight control of the APP-Mint1 interaction in regulating amyloid production.
Title: Tight control of the APP-Mint1 interaction in regulating amyloid production.
Structural Basis for the High-Affinity Interaction between CASK and Mint1.
Title: Structural Basis for the High-Affinity Interaction between CASK and Mint1.
X11 and X11L regulate the glutamate receptor micro-localization to the extrasynaptic region
Title: X11 and X11-like proteins regulate the level of extrasynaptic glutamate receptors.
Results indicate that both X11 and X11L exert largely in brain neurons, but X11 may also function in peripheral tissues.
Title: Expression and localization of X11 family proteins in neurons.
Due to the multiple interacting partners of X11alpha, dysfunction or alteration in X11alpha will have a significant cellular effect.
Title: The effects of the cellular and infectious prion protein on the neuronal adaptor protein X11α.
Mint1 826 bridges APP to the small GTPase
Title: A new Mint1 isoform, but not the conventional Mint1, interacts with the small GTPase Rab6.
Expression of Apba1 in the mouse hippocampus is modulated by a sequence variant (B2 SINE indel) in the 3' UTR of Comt (catechol-O-methyltransferase).
Title: A transposon in Comt generates mRNA variants and causes widespread expression and behavioral differences among mice.
These results suggest that the three Mint/X11 proteins regulate Abeta production by a novel mechanism that may have implications for therapeutic approaches to altering APP cleavage in Alzheimer's disease.
Title: Deletion of Mint proteins decreases amyloid production in transgenic mouse models of Alzheimer's disease.
X11s associate primarily with APP molecules that are outside of DRM, that the dissociation of APP-X11/X11L complexes leads to entry of APP into DRM, and that cleavage of uncomplexed APP by BACE within DRM
Title: X11 proteins regulate the translocation of amyloid beta-protein precursor (APP) into detergent-resistant membrane and suppress the amyloidogenic cleavage of APP by beta-site-cleaving enzyme in brain.
Reports have demonstrated that KIF17-Mint1 association was disrupted and transported cargo was released from its microtubule-based transport when Ser 1029 of KIF17 was phosphorylated.
Title: Disruption of KIF17-Mint1 interaction by CaMKII-dependent phosphorylation: a molecular model of kinesin-cargo release.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC298786P1 (e-PCR)
- UniSTS:272460

D19Dcr22 (e-PCR), detects polymorphism
- UniSTS:532342

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables PDZ domain binding	ISO Inferred from Sequence Orthology more info
enables amyloid-beta binding	IBA Inferred from Biological aspect of Ancestor more info
enables amyloid-beta binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within chemical synaptic transmission	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gamma-aminobutyric acid secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glutamate secretion	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within intracellular protein transport	IPI Inferred from Physical Interaction more info	PubMed
acts_upstream_of_or_within locomotory behavior	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IGI Inferred from Genetic Interaction more info	PubMed
involved_in presynaptic modulation of chemical synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in presynaptic modulation of chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
is_active_in Schaffer collateral - CA1 synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in dendritic spine	IBA Inferred from Biological aspect of Ancestor more info
located_in dendritic spine	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in presynaptic active zone membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: amyloid-beta A4 precursor protein-binding family A member 1

Names: UROP11-110; adapter protein X11alpha; amyloid beta (A4) precursor protein binding, family A, member 1; mint-1; neuron-specific X11 protein; neuronal Munc18-1-interacting protein 1

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_177034.3 → NP_796008.2 amyloid-beta A4 precursor protein-binding family A member 1

See identical proteins and their annotated locations for NP_796008.2

Status: VALIDATED

Source sequence(s)

AI838602, AK032261, AK147583, CJ122547

Consensus CDS

CCDS50407.1

UniProtKB/Swiss-Prot

B2RUJ5, Q3UH49, Q8BMF2

UniProtKB/TrEMBL

Q3UH26

Related

ENSMUSP00000025830.8, ENSMUST00000025830.9

Conserved Domains (3) summary

cd00992
Location:750 → 823

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:457 → 628

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

pfam00595
Location:661 → 744

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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

23736170..23926961

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006527139.5 → XP_006527202.1 amyloid-beta A4 precursor protein-binding family A member 1 isoform X1

See identical proteins and their annotated locations for XP_006527202.1

UniProtKB/Swiss-Prot

B2RUJ5, Q3UH49, Q8BMF2

UniProtKB/TrEMBL

Q3UH26

Conserved Domains (3) summary

cd00992
Location:750 → 823

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:457 → 628

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

pfam00595
Location:661 → 744

PDZ; PDZ domain (Also known as DHR or GLGF)
XM_006527140.5 → XP_006527203.1 amyloid-beta A4 precursor protein-binding family A member 1 isoform X2

UniProtKB/TrEMBL

Q3UH26

Conserved Domains (3) summary

cd00992
Location:739 → 812

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:457 → 617

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

pfam00595
Location:650 → 733

PDZ; PDZ domain (Also known as DHR or GLGF)
XM_030250969.2 → XP_030106829.1 amyloid-beta A4 precursor protein-binding family A member 1 isoform X2

UniProtKB/TrEMBL

Q3UH26

Conserved Domains (3) summary

cd00992
Location:739 → 812

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:457 → 617

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

pfam00595
Location:650 → 733

PDZ; PDZ domain (Also known as DHR or GLGF)
XM_030250968.2 → XP_030106828.1 amyloid-beta A4 precursor protein-binding family A member 1 isoform X1

UniProtKB/Swiss-Prot

B2RUJ5, Q3UH49, Q8BMF2

UniProtKB/TrEMBL

Q3UH26

Conserved Domains (3) summary

cd00992
Location:750 → 823

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:457 → 628

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

pfam00595
Location:661 → 744

PDZ; PDZ domain (Also known as DHR or GLGF)
XM_030250967.2 → XP_030106827.1 amyloid-beta A4 precursor protein-binding family A member 1 isoform X1

UniProtKB/Swiss-Prot

B2RUJ5, Q3UH49, Q8BMF2

UniProtKB/TrEMBL

Q3UH26

Conserved Domains (3) summary

cd00992
Location:750 → 823

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:457 → 628

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

pfam00595
Location:661 → 744

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