Free for academic non-profit institutions. Other users need a Commercial license

Aliases for APBA1 Gene

Aliases for APBA1 Gene

  • Amyloid Beta Precursor Protein Binding Family A Member 1 2 3
  • Amyloid Beta (A4) Precursor Protein-Binding, Family A, Member 1 2 5
  • Neuronal Munc18-1-Interacting Protein 1 3 4
  • Neuron-Specific X11 Protein 3 4
  • Adapter Protein X11alpha 3 4
  • Mint-1 3 4
  • MINT1 3 4
  • X11 3 4
  • Amyloid Beta (A4) Precursor Protein-Binding, Family A, Member 1 (X11) 3
  • Phosphotyrosine-Binding/-Interacting Domain (PTB)-Bearing Protein 3
  • Adaptor Protein X11alpha 3
  • X11ALPHA 3
  • D9S411E 3
  • LIN10 3
  • X11A 3

External Ids for APBA1 Gene

Previous HGNC Symbols for APBA1 Gene

  • MINT1

Previous GeneCards Identifiers for APBA1 Gene

  • GC09M063089
  • GC09M063901
  • GC09M065615
  • GC09M067502
  • GC09M069274
  • GC09M071235
  • GC09M072042
  • GC09M041881

Summaries for APBA1 Gene

Entrez Gene Summary for APBA1 Gene

  • 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]

GeneCards Summary for APBA1 Gene

APBA1 (Amyloid Beta Precursor Protein Binding Family A Member 1) is a Protein Coding gene. Diseases associated with APBA1 include Alzheimer Disease and Neuronal Intranuclear Inclusion Disease. Among its related pathways are Transmission across Chemical Synapses and Neurotransmitter Release Cycle. GO annotations related to this gene include protein complex binding and phosphatidylinositol-4,5-bisphosphate binding. An important paralog of this gene is APBA2.

UniProtKB/Swiss-Prot for APBA1 Gene

  • Putative function in synaptic vesicle exocytosis by binding to Munc18-1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the beta-amyloid precursor protein (APP) and hence formation of beta-APP.

Gene Wiki entry for APBA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APBA1 Gene

Genomics for APBA1 Gene

Regulatory Elements for APBA1 Gene

Enhancers for APBA1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around APBA1 on UCSC Golden Path with GeneCards custom track

Promoters for APBA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around APBA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for APBA1 Gene

Chromosome:
9
Start:
69,427,530 bp from pter
End:
69,673,617 bp from pter
Size:
246,088 bases
Orientation:
Minus strand

Genomic View for APBA1 Gene

Genes around APBA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APBA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APBA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APBA1 Gene

Proteins for APBA1 Gene

  • Protein details for APBA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02410-APBA1_HUMAN
    Recommended name:
    Amyloid beta A4 precursor protein-binding family A member 1
    Protein Accession:
    Q02410
    Secondary Accessions:
    • O14914
    • O60570
    • Q5VYR8

    Protein attributes for APBA1 Gene

    Size:
    837 amino acids
    Molecular mass:
    92865 Da
    Quaternary structure:
    • Part of a multimeric complex containing Munc18-1 and syntaxin-1. Also part of the brain-specific heterotrimeric complex LIN-10/X11-alpha, LIN-2/CASK, and LIN7. Both isoform 1 and isoform 2 bind to the cytoplasmic domain of amyloid protein (APP). Interacts (via PDZ 1 and 2 domains) with FSPB. Isoform 2, but not isoform 1, interacts (via its truncated PID domain) with active, GTP-bound RAB6A and RAB6B.

    Three dimensional structures from OCA and Proteopedia for APBA1 Gene

    Alternative splice isoforms for APBA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APBA1 Gene

Proteomics data for APBA1 Gene at MOPED

Post-translational modifications for APBA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for APBA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for APBA1 Gene

Domains & Families for APBA1 Gene

Gene Families for APBA1 Gene

Protein Domains for APBA1 Gene

Suggested Antigen Peptide Sequences for APBA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q02410

UniProtKB/Swiss-Prot:

APBA1_HUMAN :
  • Composed of an N-terminal domain that binds Munc18-1 and LIN-2/CASK, a middle phosphotyrosine-binding domain (PID/PTB) that mediates binding with the cytoplasmic domain of the beta-amyloid precursor protein, and two C-terminal PDZ domains thought to attach proteins to the plasma membrane.
Domain:
  • Composed of an N-terminal domain that binds Munc18-1 and LIN-2/CASK, a middle phosphotyrosine-binding domain (PID/PTB) that mediates binding with the cytoplasmic domain of the beta-amyloid precursor protein, and two C-terminal PDZ domains thought to attach proteins to the plasma membrane.
  • The autoinhibitory helix linker occludes the APP binding site.
  • The PID domain, truncated by 11 amino acids, as observed in isoform 2, but not full-length, mediates the interaction with RAB6A and RAB6B.
  • Contains 2 PDZ (DHR) domains.
  • Contains 1 PID domain.
genes like me logo Genes that share domains with APBA1: view

Function for APBA1 Gene

Molecular function for APBA1 Gene

UniProtKB/Swiss-Prot Function:
Putative function in synaptic vesicle exocytosis by binding to Munc18-1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the beta-amyloid precursor protein (APP) and hence formation of beta-APP.

Gene Ontology (GO) - Molecular Function for APBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 8887653
genes like me logo Genes that share ontologies with APBA1: view
genes like me logo Genes that share phenotypes with APBA1: view

Animal Models for APBA1 Gene

MGI Knock Outs for APBA1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for APBA1 Gene

Localization for APBA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APBA1 Gene

Cytoplasm. Cytoplasm, perinuclear region. Nucleus. Note=Only about 5% of the protein is located in the nucleus.
Isoform 2: Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for APBA1 Gene COMPARTMENTS Subcellular localization image for APBA1 gene
Compartment Confidence
cytosol 3
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for APBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008021 synaptic vesicle IEA --
genes like me logo Genes that share ontologies with APBA1: view

Pathways & Interactions for APBA1 Gene

genes like me logo Genes that share pathways with APBA1: view

Gene Ontology (GO) - Biological Process for APBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0007155 cell adhesion TAS 9753324
GO:0010468 regulation of gene expression IEA --
GO:0035264 multicellular organism growth IEA --
genes like me logo Genes that share ontologies with APBA1: view

No data available for SIGNOR curated interactions for APBA1 Gene

Drugs & Compounds for APBA1 Gene

(1) Additional Compounds for APBA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with APBA1: view

Transcripts for APBA1 Gene

Unigene Clusters for APBA1 Gene

Amyloid beta (A4) precursor protein-binding, family A, member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for APBA1 Gene

No ASD Table

Relevant External Links for APBA1 Gene

GeneLoc Exon Structure for
APBA1
ECgene alternative splicing isoforms for
APBA1

Expression for APBA1 Gene

mRNA expression in normal human tissues for APBA1 Gene

mRNA differential expression in normal tissues according to GTEx for APBA1 Gene

This gene is overexpressed in Brain - Cortex (x4.7), Brain - Amygdala (x4.4), Brain - Frontal Cortex (BA9) (x4.2), and Brain - Anterior cingulate cortex (BA24) (x4.2).

Protein differential expression in normal tissues from HIPED for APBA1 Gene

This gene is overexpressed in Frontal cortex (20.4), Fetal Brain (9.3), and Peripheral blood mononuclear cells (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for APBA1 Gene



SOURCE GeneReport for Unigene cluster for APBA1 Gene Hs.171939

mRNA Expression by UniProt/SwissProt for APBA1 Gene

Q02410-APBA1_HUMAN
Tissue specificity: Brain and spinal cord. Isoform 2 is expressed in testis and brain, but not detected in lung, liver or spleen.
genes like me logo Genes that share expression patterns with APBA1: view

Protein tissue co-expression partners for APBA1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for APBA1 Gene

Orthologs for APBA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for APBA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia APBA1 35
  • 92.01 (n)
  • 97.11 (a)
APBA1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia APBA1 35
  • 91.18 (n)
  • 95.55 (a)
APBA1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Apba1 35
  • 90.26 (n)
  • 94.23 (a)
Apba1 16
Apba1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia APBA1 35
  • 99.6 (n)
  • 99.88 (a)
APBA1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apba1 35
  • 90.72 (n)
  • 94.94 (a)
oppossum
(Monodelphis domestica)
Mammalia APBA1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APBA1 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves APBA1 35
  • 77.53 (n)
  • 88.32 (a)
APBA1 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APBA1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apba1 35
  • 73.9 (n)
  • 86.71 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8547 35
zebrafish
(Danio rerio)
Actinopterygii apba1a 35
  • 73.72 (n)
  • 82.77 (a)
apba1a 36
  • 74 (a)
OneToMany
apba1b 36
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta X11L 36
  • 26 (a)
ManyToMany
X11Lbeta 36
  • 14 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lin-10 37
  • 55 (a)
lin-10 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 66 (a)
OneToMany
Species with no ortholog for APBA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for APBA1 Gene

ENSEMBL:
Gene Tree for APBA1 (if available)
TreeFam:
Gene Tree for APBA1 (if available)

Paralogs for APBA1 Gene

Paralogs for APBA1 Gene

(2) SIMAP similar genes for APBA1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with APBA1: view

Variants for APBA1 Gene

Sequence variations from dbSNP and Humsavar for APBA1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs34788368 - 69,516,661(+) CTCGG(A/C)GTAGG reference, missense
rs869150 -- 69,566,699(-) AGGCT(C/G)TGAGG intron-variant
rs870330 -- 69,521,545(-) tctga(C/T)ccccg intron-variant
rs870331 -- 69,521,541(-) acccc(C/T)gaccc intron-variant
rs879767 -- 69,487,089(+) AAAGG(C/G)TTCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for APBA1 Gene

Variant ID Type Subtype PubMed ID
dgv8247n71 CNV Gain 21882294
nsv893431 CNV Loss 21882294
dgv2387e1 CNV Complex 17122850
nsv893432 CNV Gain 21882294
esv2422080 CNV Duplication 20811451
esv29180 CNV Gain 19812545
nsv442554 CNV CNV 18776908
nsv520760 CNV Gain 19592680
nsv818703 CNV Gain 17921354
nsv6551 CNV Insertion 18451855
nsv515519 CNV Gain+Loss 19592680
dgv8248n71 CNV Gain+Loss 21882294
nsv466399 CNV Gain 19166990
nsv893435 CNV Loss 21882294
nsv8523 CNV Loss 18304495
nsv819768 CNV Loss 19587683
esv2421796 OTHER Complex 20811451
dgv1222n67 CNV Loss 20364138
nsv442151 CNV CNV 18776908
nsv515150 CNV Complex 21397061
esv34257 CNV Loss 17911159
dgv939n27 CNV Gain 19166990
dgv940n27 CNV Loss 19166990
nsv471307 CNV Loss 18288195
nsv471308 CNV Gain 18288195
nsv818704 CNV Gain 17921354
esv34446 CNV Gain 17911159
nsv466413 CNV Gain 19166990
nsv466415 CNV Loss 19166990
dgv2388e1 CNV Complex 17122850
nsv893436 CNV Gain 21882294
nsv438107 CNV Loss 16468122
nsv893437 CNV Gain 21882294
esv2663143 CNV Deletion 23128226
nsv415787 CNV Insertion 16902084
nsv471309 CNV Gain 18288195

Variation tolerance for APBA1 Gene

Residual Variation Intolerance Score: 2.79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.58; 78.01% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for APBA1 Gene

Disorders for APBA1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for APBA1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • alzheimer disease, late-onset
neuronal intranuclear inclusion disease
  • neuronal intranuclear hyaline inclusion disease
- elite association - COSMIC cancer census association via MalaCards
Search APBA1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for APBA1

Genetic Association Database (GAD)
APBA1
Human Genome Epidemiology (HuGE) Navigator
APBA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APBA1
genes like me logo Genes that share disorders with APBA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APBA1 Gene

Publications for APBA1 Gene

  1. Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system. (PMID: 7678331) Duclos F. … Mandel J.-L. (Proc. Natl. Acad. Sci. U.S.A. 1993) 2 3 4 67
  2. Novel mediators of amyloid precursor protein signaling. (PMID: 20016085) Swistowski A. … Bredesen D.E. (J. Neurosci. 2009) 3 23
  3. RNA interference-mediated silencing of X11alpha and X11beta attenuates amyloid beta-protein levels via differential effects on beta-amyloid precursor protein processing. (PMID: 15699037) Xie Z. … Tanzi R.E. (J. Biol. Chem. 2005) 3 23
  4. Autoinhibition of X11/Mint scaffold proteins revealed by the closed conformation of the PDZ tandem. (PMID: 16007100) Long J.F. … Zhang M. (Nat. Struct. Mol. Biol. 2005) 3 23
  5. X11alpha impairs gamma- but not beta-cleavage of amyloid precursor protein. (PMID: 14756819) King G.D. … Turner R.S. (J. Neurochem. 2004) 3 23

Products for APBA1 Gene

Sources for APBA1 Gene

Content