title: Identification and characterization of NBEAL1, a novel human neurobeachin-like 1 protein gene from fetal brain, which is up regulated in glioma.
abstract: The Beige and Chediak-Higashi (BEACH) domain is highly conserved in a large family of eukaryotic proteins, and is crucial for their functions in vesicle trafficking, membrane dynamics and receptor signaling. From a fetal brain cDNA library, we isolated a cDNA of 3858 bp encoding a novel human BEACH protein, which was named as human neurobeachin-like 1 (NBEAL1) gene. The cDNA had an open reading frame (ORF) of 3006 bp encoding a putative 1001 amino acid protein. The NBEAL1 gene was located on human chromosome 2q33-2q34 and consisted of 25 exons spanning about 73 kb of the human genome. PSORT analysis indicated that the NBEAL1 protein contained a vacuolar-targeting motif ILPK, which suggested the protein might be located in the cell lysosome. The expression pattern was examined by reverse transcription/polymerase chain reaction (RT-PCR), which showed that the transcripts were highly expressed in the human brain, kidney, prostate, and testis while lowly in the ovary, small intestine, colon and peripheral blood leukocyte. In addition, the RT-PCR result of and Northern blot showed that the novel gene was highly expressed in the biopsies of different grade glioma, especially in that of lower grade ones, which suggested it might be correlative with the glioma.
authors.affiliation: Department of Neurosurgery, ChangZheng Hospital, Second Military Medical University, Shanghai 200003, PR China.
authors.forename: Juxiang
authors.initials: J
authors.lastname: Chen
authors.forename: Yicheng
authors.initials: Y
authors.lastname: Lu
authors.forename: Jian
authors.initials: J
authors.lastname: Xu
authors.forename: Yan
authors.initials: Y
authors.lastname: Huang
authors.forename: Haipeng
authors.initials: H
authors.lastname: Cheng
authors.forename: Guohan
authors.initials: G
authors.lastname: Hu
authors.forename: Chun
authors.initials: C
authors.lastname: Luo
authors.forename: Meiqing
authors.initials: M
authors.lastname: Lou
authors.forename: Gentao
authors.initials: G
authors.lastname: Cao
authors.forename: Yi
authors.initials: Y
authors.lastname: Xie
authors.forename: Kang
authors.initials: K
authors.lastname: Ying
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D001921:Brain / Q000196:embryology* / Q000378:metabolism*; D001932:Brain Neoplasms / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005333:Fetus / Q000502:physiology; D005910:Glioma / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism*; D016366:Open Reading Frames; D010802:Phylogeny; D017434:Protein Structure, Tertiary; D016415:Sequence Alignment; D014018:Tissue Distribution; D015854:Up-Regulation
chemical_list: D002352:Carrier Proteins; C498595:NBEA protein, human; D009419:Nerve Tissue Proteins