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FLASH GENE
Symbol NBEA contributors: mct - updated : 18-10-2017
HGNC name neurobeachin
HGNC id 7648
Location 13q13.3      Physical location : 35.516.423 - 36.246.872
Synonym name lysosomal trafficking regulator 2
Synonym symbol(s) KIAA1544, HS3821, BCL8B, LYST2
DNA
TYPE functioning gene
STRUCTURE 730.45 kb     58 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
13CDNA73 13q12.3 hypothetical protein CG003 BRCA2 13q12.3 breast cancer 2, early onset IFIT1P 13q12-q13 interferon-induced protein with tetratricopeptide repeats 1, pseudogene CG018 13q12-q13 hypothetical gene CG018 PRO0297 13q12-q13 hypothetical gene CG018 LOC88523 13q12.3 CG016 CG005 APRIN 13q12.3 androgen-induced proliferation inhibitor LOC122038 13q13.1 similar to Mitochondrial import receptor subunit TOM22 homolog (Translocase of outer membrane 22 kDa subunit homolog) (hTom22) (1C9-2) KL 13q12 klotho LOC387918 13 LOC387918 STARD13 13q12-q13 START domain containing 13 RFC3 13q12.3-q13 replication factor C (activator 1) 3, 38kDa NBEA 13q13 neurobeachin MAB21L1 13q13.1-q13.2 mab-21-like 1 (C. elegans) DCAMKL1 13q12.3-q13 doublecortin and CaM kinase-like 1 FLJ20449 13q13.2 hypothetical protein FLJ20449 LOC387919 13 similar to RIKEN cDNA A730037C10 gene SPG20 13q13.1 spastic paraplegia 20, spartin (Troyer syndrome) LOC387920 13 similar to bA251J8.3.1 (novel protein, isoform 1) CCNA1 13q12.3-q13 cyclin A1 LOC390393 13 similar to glyceraldehyde-3-phosphate dehydrogenase (phosphorylating)  (EC 1.2.1.12) - mouse RFXAP 13q14 regulatory factor X-associated protein MADH9 13q12-q14 MAD, mothers against decapentaplegic homolog 9 (Drosophila) LOC390394 13 similar to eukaryotic translation initiation factor 4A1; initiation factor eIF-4A long form ALG5 13q13.2 asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase) OIP2 13q13.1 Opa-interacting protein 2 P38IP 13q13.2 transcription factor (p38 interacting protein) MGC33182 13q13.2 casein kinase I alpha S-like OSF-2 TRPC4 13q13.1-q13.2 transient receptor potential cation channel, subfamily C, member 4
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
58 - 11140 - 2946 - 2004 15071111
18 - 4107 - 739 - 2004 15071111
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineneuroendocrinepituitary  highly
Nervousbrainforebraincerebral cortex specific Homo sapiens
 brainhindbraincerebellum highly Homo sapiens
 brainforebraincerebral lobeoccipitalpredominantly Homo sapiens
Respiratoryrespiratory tracttrachea  highly
Visualeyeretina   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsensoryvisual  
Nervouscentral  specific Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a concanavalin A-like lectin domain flanked by armadillo repeats (ACA),
  • an A-kinase anchoring protein domain that can bind to PRKCA,
  • a domain of unknown function (DUF1088)
  • a BEACH domain (beige and Chediak-Higashi domain), preceded by a pleckstrin homology-like domain and followed by C-terminal WD40 repeats (PBW)
  • HOMOLOGY
    interspecies homolog to murine Nbea
    homolog to Drosophila protein kinase A anchoring protein RG
    Homologene
    FAMILY BEACH domain family of proteins
    CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • predominantly in neuronal cell bodies and along neurites within intensely stained punctate structure
  • basic FUNCTION
  • presumptive protein kinase A anchoring function
  • may be involved in membrane trafficking events
  • neuron-specific multidomain protein implicated in membrane trafficking that is predominantly expressed in the brain and during development
  • putative regulator of membrane protein trafficking associated with tubulovesicular endomembranes and postsynaptic plasma membranes
  • function at central synapses that may be based on its presumed role in targeting membrane proteins to synaptic contact
  • role of VPS35 and NBEA in the retrieval and post-Golgi trafficking of synaptic GLYRs and possibly other neurotransmitter receptors
  • potential roles of VPS35 and NBEA in inhibitory receptor trafficking
  • potential role in trafficking important cargo to pre- and postsynaptic compartments
  • regulates neuronal membrane protein trafficking and is required for the development and functioning of central and neuromuscular synapses
  • potential risk gene in human obesity
  • is important also for the functioning of central synapses, where it is suggested to play a role in trafficking membrane proteins to both, the pre- and post-synaptic sites
  • regulates synaptic transmission under basal conditions by targeting neurotransmitter receptors to synapses
  • acts as a critical regulator in the postsynaptic neuron for the coordination of dendritic morphology with synaptogenesis
  • brain specific, and is required for synaptic surface expression of both glutamate and GABA receptors
  • regulates glutamate- and GABA-Receptor targeting to synapses via distinct pathways
  • role for NBEA as transcriptional regulator in the nucleus
  • CELLULAR PROCESS cell life, antiapoptosis
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GLRB binds the trafficking proteins VPS35 and Neurobeachin (NBEA)
  • interacts with the GLRB loop but not with gephyrin (GPHN)
  • DLG3 binds the C-terminal part of the scaffolding protein neurobeachin (NBEA)
  • physical interaction of NBEA with NOTCH1 is most relevant for autism spectrum disorders (ASD) pathogenesis because NOTCH signaling is essential for neural development
  • cell & other
  • peripherally associated with several membrane compartments including trans-Golgi network and endosome-like structures
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    expression are frequently disrupted in multiple myeloma
    Susceptibility
    Variant & Polymorphism
    Candidate gene for AUTS3
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion of Nbea leads to reduced numbers of spinous synapses in cultured neurons from complete knockouts and in cortical tissue from heterozygous mice, accompanied by altered miniature postsynaptic currents
  • Nbea-null mice have severe defects in neuromuscular synaptic transmission resulting in lethal paralysis of the newborns