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

Gene ID: 9546, updated on 5-Mar-2024

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
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Genomic context

See APBA3 in Genome Data Viewer
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_000019.10Genomic Context describing neighboring genes Neighboring gene CACTIN antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3618043-3618915 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3623949-3624450 Neighboring gene cactin, spliceosome C complex subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3624451-3624950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3625177-3625738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3625739-3626300 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:3626301-3626862 Neighboring gene phosphatidylinositol-4-phosphate 5-kinase type 1 gamma Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3643569-3644108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3644109-3644646 Neighboring gene MPRA-validated peak3250 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9857 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3665265-3666095 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3672153-3672828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3673765-3674558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3675389-3675890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3679833-3680333 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3681521-3682070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3682071-3682618 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3682619-3683168 Neighboring gene Sharpr-MPRA regulatory region 323 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13743 Neighboring gene Sharpr-MPRA regulatory region 5698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3699523-3700306 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3707827-3708490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3708491-3709152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3709988-3710533 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3712547-3713048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3713049-3713548 Neighboring gene tight junction protein 3 Neighboring gene MPRA-validated peak3252 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr19:3761575-3761892 Neighboring gene uncharacterized LOC105372248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13744 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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)

  1. NM_004886.4NP_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: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: 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

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    3750772..3761692 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722950.5XP_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_006722951.4XP_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)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    3730024..3740952 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_054322743.1XP_054178718.1  amyloid-beta A4 precursor protein-binding family A member 3 isoform X2