APBA1 amyloid beta precursor protein binding family A member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: APBA1provided by HGNC
Official Full Name: amyloid beta precursor protein binding family A member 1provided by HGNC
Primary source: HGNC:HGNC:578
See related: Ensembl:ENSG00000107282 MIM:602414; AllianceGenome:HGNC:578
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: X11; X11A; LIN10; MINT1; D9S411E; X11ALPHA
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]
Expression: Broad expression in brain (RPKM 13.2), spleen (RPKM 2.4) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q21.12

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (69427532..69673013, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (81594168..81839634, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (72042448..72287287, complement)

Chromosome 9 - NC_000009.12 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: 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?

RNA sequencing and functional studies of patient-derived cells reveal that neurexin-1 and regulators of this pathway are associated with poor outcomes in Ewing sarcoma.
Title: RNA sequencing and functional studies of patient-derived cells reveal that neurexin-1 and regulators of this pathway are associated with poor outcomes in Ewing sarcoma.
Status of Gene Methylation and Polymorphism in Different Courses of Ulcerative Colitis and Their Comparison with Sporadic Colorectal Cancer.
Title: Status of Gene Methylation and Polymorphism in Different Courses of Ulcerative Colitis and Their Comparison with Sporadic Colorectal Cancer.
Mint1 causes amyloid precursor protein accumulation in the trans-Golgi network.
Title: Multisite tyrosine phosphorylation of the N-terminus of Mint1/X11α by Src kinase regulates the trafficking of amyloid precursor protein.
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.
Mint1 826 bridges APP to the small GTPase
Title: A new Mint1 isoform, but not the conventional Mint1, interacts with the small GTPase Rab6.
an autoinhibitory mechanism in Mint1 is important for regulating APP processing and may provide novel therapies for Alzheimer's disease
Title: Autoinhibition of Mint1 adaptor protein regulates amyloid precursor protein binding and processing.
Transcriptional co-activators Taz and Yap mediate signaling via the amyloid beta protein precursor paralogues APLP1 and APLP2 through interactions with Mint1 and Mint3.
Title: Signaling via amyloid precursor-like proteins APLP1 and APLP2.
Study identified the conserved binding site for the peptide on the CASK calmodulin kinase domain. A related EPIWVMRQ peptide from Mint1 was also discovered to be sufficient for binding.
Title: The molecular basis of the Caskin1 and Mint1 interaction with CASK.
Our findings show a new function for X11alpha that may impact on Alzheimer's disease pathogenesis.
Title: An X11alpha/FSBP complex represses transcription of the GSK3beta gene promoter.
Methylation of MINT1 was significantly more prevalent in UC-CRC cases compared with controls.
Title: Methylation status of genes in non-neoplastic mucosa from patients with ulcerative colitis-associated colorectal cancer.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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

D9S1754 (e-PCR)
- UniSTS:154117

G15857 (e-PCR)
- UniSTS:56847

SHGC-83193 (e-PCR)
- UniSTS:95785

RH93021 (e-PCR)
- UniSTS:90423

WI-16198 (e-PCR)
- UniSTS:67389

RH48024 (e-PCR)
- UniSTS:25157

D9S411E (e-PCR)
- UniSTS:148045

D9S1154 (e-PCR)
- UniSTS:39269

SHGC-141873 (e-PCR)
- UniSTS:171130

APBA1__4338 (e-PCR)
- UniSTS:462734

WI-17743 (e-PCR)
- UniSTS:22188

SHGC-148287 (e-PCR)
- UniSTS:176301

D9S411E (e-PCR)
- UniSTS:149947

D9S411E (e-PCR)
- UniSTS:49085

D9S2022 (e-PCR)
- UniSTS:78537

RH17597 (e-PCR)
- UniSTS:51173

D9S327 (e-PCR)
- UniSTS:148720

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables amyloid-beta binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axo-dendritic transport	TAS Traceable Author Statement more info	PubMed
involved_in cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in gamma-aminobutyric acid secretion	IEA Inferred from Electronic Annotation more info
involved_in glutamate secretion	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in presynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex assembly	TAS Traceable Author Statement more info	PubMed
involved_in regulation of gene expression	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
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 glutamatergic synapse	IEA Inferred from Electronic Annotation more info
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
located_in presynaptic active zone membrane	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle	TAS Traceable Author Statement more info	PubMed

General protein information

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

Names: adapter protein X11alpha; adaptor protein X11alpha; amyloid beta (A4) precursor protein-binding, family A, member 1 (X11); mint-1; neuron-specific X11 protein; neuronal munc18-1-interacting protein 1; 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_001163.4 → NP_001154.2 amyloid-beta A4 precursor protein-binding family A member 1

See identical proteins and their annotated locations for NP_001154.2

Status: REVIEWED

Source sequence(s)

AF047347, AL162412, AL355140, AL713639, BF435835, BQ269294, DA179202, DA313538

Consensus CDS

CCDS6630.1

UniProtKB/Swiss-Prot

O14914, O60570, Q02410, Q5VYR8

Related

ENSP00000265381.3, ENST00000265381.7

Conserved Domains (3) summary

cd00992
Location:745 → 818

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:452 → 623

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

pfam00595
Location:656 → 739

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

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_000009.12 Reference GRCh38.p14 Primary Assembly

Range

69427532..69673013 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011518617.3 → XP_011516919.1 amyloid-beta A4 precursor protein-binding family A member 1 isoform X1

See identical proteins and their annotated locations for XP_011516919.1

UniProtKB/Swiss-Prot

O14914, O60570, Q02410, Q5VYR8

Conserved Domains (3) summary

cd00992
Location:745 → 818

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:452 → 623

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

pfam00595
Location:656 → 739

PDZ; PDZ domain (Also known as DHR or GLGF)
XM_005251968.4 → XP_005252025.1 amyloid-beta A4 precursor protein-binding family A member 1 isoform X2

UniProtKB/Swiss-Prot

Q02410

Conserved Domains (3) summary

cd00992
Location:734 → 807

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:452 → 612

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

pfam00595
Location:645 → 728

PDZ; PDZ domain (Also known as DHR or GLGF)
XM_047423300.1 → XP_047279256.1 amyloid-beta A4 precursor protein-binding family A member 1 isoform X1

UniProtKB/Swiss-Prot

O14914, O60570, Q02410, Q5VYR8
XM_017014670.2 → XP_016870159.1 amyloid-beta A4 precursor protein-binding family A member 1 isoform X1

UniProtKB/Swiss-Prot

O14914, O60570, Q02410, Q5VYR8

Conserved Domains (3) summary

cd00992
Location:745 → 818

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:452 → 623

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

pfam00595
Location:656 → 739

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

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NW_003315929.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

21985..70597 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

81594168..81839634 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054362860.1 → XP_054218835.1 amyloid-beta A4 precursor protein-binding family A member 1 isoform X1

UniProtKB/Swiss-Prot

O14914, O60570, Q02410, Q5VYR8
XM_054362861.1 → XP_054218836.1 amyloid-beta A4 precursor protein-binding family A member 1 isoform X2
XM_054362858.1 → XP_054218833.1 amyloid-beta A4 precursor protein-binding family A member 1 isoform X1

UniProtKB/Swiss-Prot

O14914, O60570, Q02410, Q5VYR8
XM_054362859.1 → XP_054218834.1 amyloid-beta A4 precursor protein-binding family A member 1 isoform X1

UniProtKB/Swiss-Prot

O14914, O60570, Q02410, Q5VYR8