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Aliases for APBA1 Gene

Aliases for APBA1 Gene

  • Amyloid Beta Precursor Protein Binding Family A Member 1 2 3 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
  • Amyloid Beta (A4) Precursor Protein-Binding, Family A, Member 1 2
  • Amyloid-Beta A4 Precursor Protein-Binding Family A Member 1 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 Rectal Neoplasm. Among its related pathways are Transmission across Chemical Synapses and Protein-protein interactions at synapses. Gene Ontology (GO) annotations related to this gene include 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 amyloid-beta precursor protein (APP) and hence formation of APP-beta.

Gene Wiki entry for APBA1 Gene

Additional gene information for APBA1 Gene

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

Genomics for APBA1 Gene

GeneHancer (GH) Regulatory Elements for APBA1 Gene

Promoters and enhancers for APBA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J069671 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.7 +1.2 1183 2.4 PKNOX1 ARID4B SIN3A ZNF2 ZNF48 YY1 GLIS2 ZNF143 RXRA REST APBA1 ENSG00000261447 GC09M069559
GH09J069674 Enhancer 0.8 Ensembl ENCODE 650.7 -1.4 -1386 2 CTCF NFIB JUN OSR2 NFIC LCORL JUND POLR2A BCL6B APBA1 PTAR1
GH09J069607 Promoter 0.5 EPDnew 650.2 +66.5 66480 0.1 APBA1 GC09M069559 ENSG00000261447
GH09J069569 Enhancer 0.4 ENCODE 4.4 +103.3 103340 1.7 JUND POLR2A JUN APBA1 GC09M069559 ENSG00000229312
GH09J069542 Enhancer 0.4 ENCODE 4.3 +130.3 130339 0.9 POLR2A ZNF398 CHD2 APBA1 GC09M069559 ENSG00000229312
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APBA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the APBA1 gene promoter:
  • AP-1
  • c-Jun
  • ATF-2
  • E2F-1
  • E2F
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • MyoD

Genomic Locations for APBA1 Gene

Genomic Locations for APBA1 Gene
chr9:69,427,530-69,673,617
(GRCh38/hg38)
Size:
246,088 bases
Orientation:
Minus strand
chr9:72,042,446-72,287,275
(GRCh37/hg19)
Size:
244,830 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

Post-translational modifications for APBA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for APBA1 Gene

No data available for DME Specific Peptides for APBA1 Gene

Domains & Families for APBA1 Gene

Gene Families for APBA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 amyloid-beta 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 amyloid-beta 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.
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 amyloid-beta precursor protein (APP) and hence formation of APP-beta.

Phenotypes From GWAS Catalog for APBA1 Gene

Gene Ontology (GO) - Molecular Function for APBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding IEA --
GO:0005515 protein binding IPI,IEA 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APBA1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APBA1 gene
Compartment Confidence
cytosol 5
nucleus 4
golgi apparatus 4
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for APBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA,IBA --
GO:0005794 Golgi apparatus IEA,IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IBA --
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:0006886 intracellular protein transport IEA --
GO:0007155 cell adhesion TAS 9753324
GO:0007268 chemical synaptic transmission TAS,IEA 9753324
GO:0007269 neurotransmitter secretion TAS --
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

mRNA/cDNA for APBA1 Gene

Unigene Clusters for APBA1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APBA1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for APBA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of APBA1 Gene:

APBA1

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.

Evidence on tissue expression from TISSUES for APBA1 Gene

  • Nervous system(4.7)
  • Liver(4.3)
  • Intestine(2.7)
genes like me logo Genes that share expression patterns with APBA1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia APBA1 34 33
  • 99.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia APBA1 34 33
  • 92.01 (n)
OneToOne
dog
(Canis familiaris)
Mammalia APBA1 34 33
  • 91.18 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apba1 33
  • 90.72 (n)
mouse
(Mus musculus)
Mammalia Apba1 16 34 33
  • 90.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia APBA1 34
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APBA1 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves APBA1 34 33
  • 77.53 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APBA1 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apba1 33
  • 73.9 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8547 33
zebrafish
(Danio rerio)
Actinopterygii apba1a 34 33
  • 73.72 (n)
OneToMany
apba1b 34
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta X11L 34
  • 26 (a)
ManyToMany
X11Lbeta 34
  • 14 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lin-10 34 35
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 66 (a)
OneToMany
Species where no ortholog for APBA1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for APBA1: view image

Paralogs for APBA1 Gene

Paralogs for APBA1 Gene

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

  • APBA1_HUMAN
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 Variation AA Info Type
rs1000000803 -- 69,560,876(-) C/A intron_variant
rs1000001413 -- 69,449,294(-) G/A intron_variant
rs1000037226 -- 69,462,961(-) T/C intron_variant
rs1000054551 -- 69,457,945(-) C/T intron_variant
rs1000062017 -- 69,486,853(-) T/A intron_variant

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

Variant ID Type Subtype PubMed ID
dgv1222n67 CNV loss 20364138
dgv12743n54 CNV loss 21841781
dgv12744n54 CNV loss 21841781
dgv165e203 CNV gain+loss 21179565
dgv2156e212 CNV gain 25503493
dgv2157e212 CNV loss 25503493
dgv7668n100 CNV gain 25217958
dgv7669n100 CNV gain 25217958
dgv7670n100 CNV gain 25217958
dgv7671n100 CNV gain 25217958
dgv7672n100 CNV gain+loss 25217958
dgv7673n100 CNV loss 25217958
dgv7674n100 CNV gain 25217958
dgv7675n100 CNV gain 25217958
dgv7676n100 CNV gain 25217958
dgv939n27 CNV gain 19166990
dgv940n27 CNV loss 19166990
esv2421796 OTHER complex 20811451
esv2422080 CNV duplication 20811451
esv2663143 CNV deletion 23128226
esv2759694 CNV gain 17122850
esv2759695 CNV gain+loss 17122850
esv2761282 CNV loss 21179565
esv2761289 CNV gain 21179565
esv2761532 CNV gain 21179565
esv29180 CNV gain 19812545
esv34257 CNV loss 17911159
esv34446 CNV gain 17911159
esv3544883 CNV deletion 23714750
esv3573246 CNV loss 25503493
esv3573249 CNV loss 25503493
esv3576658 CNV gain 25503493
esv3576662 CNV gain 25503493
esv3620559 CNV gain 21293372
esv3620560 CNV loss 21293372
esv3620561 CNV gain 21293372
esv3620562 CNV loss 21293372
esv3620563 CNV gain 21293372
esv3620564 CNV loss 21293372
esv3891680 CNV loss 25118596
nsv1035814 CNV gain+loss 25217958
nsv1038185 CNV gain 25217958
nsv1039966 CNV gain 25217958
nsv1045274 CNV gain+loss 25217958
nsv1047120 CNV gain 25217958
nsv1049390 CNV gain 25217958
nsv1052951 CNV loss 25217958
nsv1125061 CNV duplication 24896259
nsv1139994 CNV duplication 24896259
nsv1161875 OTHER complex 26073780
nsv415787 CNV insertion 16902084
nsv438107 CNV loss 16468122
nsv442151 CNV gain+loss 18776908
nsv442554 CNV gain 18776908
nsv466399 CNV gain 19166990
nsv466413 CNV gain 19166990
nsv466415 CNV loss 19166990
nsv471307 CNV loss 18288195
nsv471308 CNV gain 18288195
nsv471309 CNV gain 18288195
nsv472802 CNV novel sequence insertion 20440878
nsv515150 CNV gain+loss 21397061
nsv515519 CNV gain+loss 19592680
nsv520760 CNV gain 19592680
nsv614567 CNV gain 21841781
nsv614568 CNV loss 21841781
nsv614569 CNV gain 21841781
nsv614572 CNV gain+loss 21841781
nsv614574 CNV loss 21841781
nsv614575 CNV gain 21841781
nsv614579 CNV loss 21841781
nsv6551 CNV insertion 18451855
nsv818703 CNV gain 17921354
nsv818704 CNV gain 17921354
nsv819768 CNV loss 19587683
nsv8523 CNV loss 18304495
nsv951525 CNV duplication 24416366

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)

Additional Variant Information for APBA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
APBA1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APBA1 Gene

Disorders for APBA1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
alzheimer disease
  • ad
rectal neoplasm
  • neoplasm of rectum
neuronal intranuclear inclusion disease
  • niid
- elite association - COSMIC cancer census association via MalaCards
Search APBA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for APBA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. The X11alpha protein slows cellular amyloid precursor protein processing and reduces Abeta40 and Abeta42 secretion. (PMID: 9614075) Borg JP … Turner RS (The Journal of biological chemistry 1998) 3 4 22 58
  2. Sequence-specific recognition of the internalization motif of the Alzheimer's amyloid precursor protein by the X11 PTB domain. (PMID: 9321393) Zhang Z … Kuriyan J (The EMBO journal 1997) 3 4 22 58
  3. The phosphotyrosine interaction domains of X11 and FE65 bind to distinct sites on the YENPTY motif of amyloid precursor protein. (PMID: 8887653) Borg JP … Margolis B (Molecular and cellular biology 1996) 3 4 22 58
  4. Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system. (PMID: 7678331) Duclos F … Koenig M (Proceedings of the National Academy of Sciences of the United States of America 1993) 2 3 4 58
  5. A new Mint1 isoform, but not the conventional Mint1, interacts with the small GTPase Rab6. (PMID: 23737971) Thyrock A … Barnekow A (PloS one 2013) 3 4 58

Products for APBA1 Gene

Sources for APBA1 Gene

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