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

Gene ID: 9546, updated on 12-Aug-2018

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; Vega:OTTHUMG00000180915
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

Genomic context

See APBA3 in Genome Data Viewer
Location:
19p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (3750773..3761696, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3750771..3761673, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CACTIN antisense RNA 1 Neighboring gene cactin, spliceosome C complex subunit Neighboring gene phosphatidylinositol-4-phosphate 5-kinase type 1 gamma Neighboring gene tight junction protein 3 Neighboring gene uncharacterized LOC105372248 Neighboring gene mitochondrial ribosomal protein L54

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Interactions of neurexins and neuroligins at synapses, organism-specific biosystem (from REACTOME)
    Interactions of neurexins and neuroligins at synapses, organism-specific biosystemNeurexins (NRXNs) and neuroligins (NLGNs) are best characterized synaptic cell-adhesion molecules. They are part of excitatory glutamatergic and inhibitory GABAergic synapses in mammalian brain, medi...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Protein-protein interactions at synapses, organism-specific biosystem (from REACTOME)
    Protein-protein interactions at synapses, organism-specific biosystemSynapses constitute highly specialized sites of asymmetric cell-cell adhesion and intercellular communication. Its formation involves the recruitment of presynaptic and postsynaptic molecules at newl...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amyloid-beta binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amyloid-beta binding IEA
Inferred from Electronic Annotation
more info
 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enzyme inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of catalytic activity IDA
Inferred from Direct Assay
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

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_004886.3NP_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, BG938716, BI910038, BM977984, BQ707748
    Consensus CDS
    CCDS12110.1
    UniProtKB/Swiss-Prot
    O96018
    Related
    ENSP00000315136.2, OTTHUMP00000265672, ENST00000316757.3, OTTHUMT00000453634
    Conserved Domains (4) summary
    cd00992
    Location:483556
    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:212364
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:394477
    PDZ; PDZ domain (Also known as DHR or GLGF)
    cl25865
    Location:127198
    Trypan_PARP; Procyclic acidic repetitive protein (PARP)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    3750773..3761696 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722950.4XP_006723013.1  amyloid-beta A4 precursor protein-binding family A member 3 isoform X1

    Conserved Domains (2) summary
    cd01208
    Location:212364
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:394477
    PDZ; PDZ domain (Also known as DHR or GLGF)
  2. XM_006722951.3XP_006723014.1  amyloid-beta A4 precursor protein-binding family A member 3 isoform X2

    Conserved Domains (2) summary
    cd01208
    Location:1122
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:152235
    PDZ; PDZ domain (Also known as DHR or GLGF)
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