Alternative titles; symbols
HGNC Approved Gene Symbol: NBEAL1
Cytogenetic location: 2q33.2 Genomic coordinates (GRCh38) : 2:203,014,608-203,225,194 (from NCBI)
By large-scale sequencing of clones from a human fetal brain cDNA library, Chen et al. (2004) identified neurobeachin-like-1 (NBEAL1). NBEAL1 encodes a deduced 1,001-amino acid protein with a beige and Chediak-Higashi (BEACH) domain, 3 WD40 repeats, and a vacuolar targeting motif, ILPK. The conserved BEACH domain is closely homologous to that of neurobeachin (NBEA; 604889). RT-PCR of adult human tissues detected high expression of NBEAL1 in brain, kidney, prostate, and testis, and weak expression in ovary, small intestine, colon, and peripheral blood lymphocytes. Northern blot analysis revealed a 4.0-kb NBEAL1 transcript in astrocytoma and glioblastoma samples, and indicated up-regulated expression in gliomas compared to normal brain tissue. A higher level of NBEAL1 expression was observed in low grade compared to high grade gliomas, suggesting that NBEAL1 is highly expressed in the prophase of glioma.
Chen et al. (2004) determined that the NBEAL1 gene contains 25 exons and spans about 73 kb of genomic DNA.
By sequence analysis, Chen et al. (2004) mapped the NBEAL1 gene to chromosome 2q33-q34.
Chen, J., Lu, Y., Xu, J., Huang, Y., Cheng, H., Hu, G., Luo, C., Lou, M., Cao, G., Xie, Y., Ying, K. Identification and characterization of NBEAL1, a novel human neurobeachin-like 1 protein gene from fetal brain, which is up regulated in glioma. Molec. Brain Res. 125: 147-155, 2004. [PubMed: 15193433] [Full Text: https://doi.org/10.1016/j.molbrainres.2004.02.022]