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Gene Review

NBEA  -  neurobeachin

Homo sapiens

Synonyms: BCL8B, FLJ10197, KIAA1544, LYST2, Lysosomal-trafficking regulator 2, ...
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High impact information on NBEA

  • Our observations indicate that SEL-2/neurobeachin/LRBA is involved in endosomal traffic and may be involved in efficient delivery of cell surface proteins to the lysosome [1].
  • We show that FRA13A breaks are limited to a 650 kb region within the neurobeachin (NBEA) gene, which genomically spans approximately 730 kb [2].
  • We identified additional copies on human chromosomes 13 (BCL8B), 22 (BCL8C), 2 (BCL8D), and 10 (BCL8E) by cDNA cloning and sequence analysis [3].
  • The neurobeachin gene (Nbea) identifies a new region of homology between mouse central chromosome 3 and human chromosome 13q13 [4].
  • In our series of human cDNA projects for accumulating sequence information on the coding sequences of unidentified genes, we herein present the entire sequences of 100 cDNA clones of unidentified genes, named KIAA1544 to KIAA1643, from two sets of size-fractionated human adult and fetal brain cDNA libraries [5].

Biological context of NBEA

  • We describe the identification and initial characterization of neurobeachin, a neuron-specific multidomain protein of 327 kDa with a high-affinity binding site (K(d), 10 nm) for the type II regulatory subunit of protein kinase A (PKA RII) [6].

Anatomical context of NBEA


  1. SEL-2, the C. elegans neurobeachin/LRBA homolog, is a negative regulator of lin-12/Notch activity and affects endosomal traffic in polarized epithelial cells. de Souza, N., Vallier, L.G., Fares, H., Greenwald, I. Development (2007) [Pubmed]
  2. The neurobeachin gene spans the common fragile site FRA13A. Savelyeva, L., Sagulenko, E., Schmitt, J.G., Schwab, M. Hum. Genet. (2006) [Pubmed]
  3. BCL8 is a novel, evolutionarily conserved human gene family encoding proteins with presumptive protein kinase A anchoring function. Dyomin, V.G., Chaganti, S.R., Dyomina, K., Palanisamy, N., Murty, V.V., Dalla-Favera, R., Chaganti, R.S. Genomics (2002) [Pubmed]
  4. The neurobeachin gene (Nbea) identifies a new region of homology between mouse central chromosome 3 and human chromosome 13q13. Gilbert, D.J., Engel, H., Wang, X., Grzeschik, K.H., Copeland, N.G., Jenkins, N.A., Kilimann, M.W. Mamm. Genome (1999) [Pubmed]
  5. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase, T., Kikuno, R., Nakayama, M., Hirosawa, M., Ohara, O. DNA Res. (2000) [Pubmed]
  6. Neurobeachin: A protein kinase A-anchoring, beige/Chediak-higashi protein homolog implicated in neuronal membrane traffic. Wang, X., Herberg, F.W., Laue, M.M., Wullner, C., Hu, B., Petrasch-Parwez, E., Kilimann, M.W. J. Neurosci. (2000) [Pubmed]
  7. Low-frequency common fragile sites: link to neuropsychiatric disorders? Savelyeva, L., Sagulenko, E., Schmitt, J.G., Schwab, M. Cancer Lett. (2006) [Pubmed]
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