Human Gene APBA1 (ENST00000265381.7) from GENCODE V44
Description: Homo sapiens amyloid beta precursor protein binding family A member 1 (APBA1), mRNA. (from RefSeq NM_001163) RefSeq Summary (NM_001163): 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]. Gencode Transcript: ENST00000265381.7 Gencode Gene: ENSG00000107282.9 Transcript (Including UTRs) Position: hg38 chr9:69,427,532-69,672,371 Size: 244,840 Total Exon Count: 13 Strand: - Coding Region Position: hg38 chr9:69,431,327-69,517,210 Size: 85,884 Coding Exon Count: 12
ID:APBA1_HUMAN DESCRIPTION: RecName: Full=Amyloid beta A4 precursor protein-binding family A member 1; AltName: Full=Adapter protein X11alpha; AltName: Full=Neuron-specific X11 protein; AltName: Full=Neuronal Munc18-1-interacting protein 1; Short=Mint-1; 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. SUBUNIT: 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. Binds to the cytoplasmic domain of amyloid protein (APP). Interacts (via PDZ 1 and 2 domains) with FSPB. INTERACTION: P05067:APP; NbExp=3; IntAct=EBI-368690, EBI-77613; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Brain and spinal cord. 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. DOMAIN: The Autoinhibitory helix linker occludes the APP binding site (By similarity). SIMILARITY: Contains 2 PDZ (DHR) domains. SIMILARITY: Contains 1 PID domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q02410
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
