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

Gene ID: 320, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See APBA1 in Genome Data Viewer
Location:
9q21.12
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (69427532..69673013, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (81594168..81839634, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (72042448..72287287, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene endosomal transmembrane epsin interactor 1 Neighboring gene uncharacterized LOC124902177 Neighboring gene Sharpr-MPRA regulatory region 1664 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:72081305-72082504 Neighboring gene uncharacterized LOC124902178 Neighboring gene 9q21.12 proximal LINE-mediated recombination region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:72120629-72121248 Neighboring gene 9q21.12 distal LINE-mediated recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19935 Neighboring gene protein prenyltransferase alpha subunit repeat containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19936 Neighboring gene uncharacterized LOC105376076 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:72375949-72376804 Neighboring gene Sharpr-MPRA regulatory region 8756 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:72377659-72378514 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:72378515-72379369

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. NPXY, a sequence often found in cytoplasmic tails, is required for coated pit-mediated internalization of the low density lipoprotein receptor. Chen WJ, et al. J Biol Chem, 1990 Feb 25. PMID 1968060
  2. The neuronal adaptor protein X11alpha reduces Abeta levels in the brains of Alzheimer's APPswe Tg2576 transgenic mice. Lee JH, et al. J Biol Chem, 2003 Nov 21. PMID 12970358
  3. Modulation of amyloid precursor protein metabolism by X11alpha /Mint-1. A deletion analysis of protein-protein interaction domains. Mueller HT, et al. J Biol Chem, 2000 Dec 15. PMID 11010978
  4. Multisite tyrosine phosphorylation of the N-terminus of Mint1/X11α by Src kinase regulates the trafficking of amyloid precursor protein. Dunning CJ, et al. J Neurochem, 2016 May. PMID 26865271, Free PMC Article
  5. Sequence-specific recognition of the internalization motif of the Alzheimer's amyloid precursor protein by the X11 PTB domain. Zhang Z, et al. EMBO J, 1997 Oct 15. PMID 9321393, Free PMC Article

See all (63) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. Mint1 826 bridges APP to the small GTPase
    Title: A new Mint1 isoform, but not the conventional Mint1, interacts with the small GTPase Rab6.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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)

  1. 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    69427532..69673013 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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)

  2. 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)

  3. 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

  4. 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

  1. 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

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    81594168..81839634 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. XM_054362861.1 → XP_054218836.1  amyloid-beta A4 precursor protein-binding family A member 1 isoform X2

  3. 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

  4. 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
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q02410.3 GenPept UniProtKB/Swiss-Prot:Q02410

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