GNB1L
| Guanine nucleotide binding protein (G protein), beta polypeptide 1-like | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | GNB1L ; DGCRK3; FKSG1; GY2; WDR14; WDVCF | ||||||||||||
| External IDs | OMIM: 610778 MGI: 1338057 HomoloGene: 41515 GeneCards: GNB1L Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 54584 | 13972 | |||||||||||
| Ensembl | ENSG00000185838 | ENSMUSG00000000884 | |||||||||||
| UniProt | Q9BYB4 | Q9EQ15 | |||||||||||
| RefSeq (mRNA) | NM_053004 | NM_001081682 | |||||||||||
| RefSeq (protein) | NP_443730 | NP_001075151 | |||||||||||
| Location (UCSC) |
Chr 22: 19.78 – 19.85 Mb |
Chr 16: 18.5 – 18.57 Mb | |||||||||||
| PubMed search | |||||||||||||
Guanine nucleotide-binding protein subunit beta-like protein 1 is a protein that in humans is encoded by the GNB1L gene.[1][2]
This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene.[2]
References
- ↑ Gong L, Liu M, Jen J, Yeh ET (Dec 2000). "GNB1L, a gene deleted in the critical region for DiGeorge syndrome on 22q11, encodes a G-protein beta-subunit-like polypeptide". Biochim Biophys Acta 1494 (1–2): 185–8. doi:10.1016/s0167-4781(00)00189-5. PMID 11072084.
- 1 2 "Entrez Gene: GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like".
Further reading
- Williams NM, Glaser B, Norton N; et al. (2008). "Strong evidence that GNB1L is associated with schizophrenia". Hum. Mol. Genet. 17 (4): 555–66. doi:10.1093/hmg/ddm330. PMID 18003636.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Collins JE, Wright CL, Edwards CA; et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
- Sarbassov DD, Ali SM, Kim DH; et al. (2004). "Rictor, a novel binding partner of mTOR, defines a rapamycin-insensitive and raptor-independent pathway that regulates the cytoskeleton". Curr. Biol. 14 (14): 1296–302. doi:10.1016/j.cub.2004.06.054. PMID 15268862.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Funke B, Pandita RK, Morrow BE (2001). "Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11". Genomics 73 (3): 264–71. doi:10.1006/geno.2000.6506. PMID 11350118.
- Hirosawa M, Nagase T, Murahashi Y; et al. (2001). "Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping". DNA Res. 8 (1): 1–9. doi:10.1093/dnares/8.1.1. PMID 11258795.
- Dunham I, Shimizu N, Roe BA; et al. (1999). "The DNA sequence of human chromosome 22". Nature 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208.