GNB1L

From Wikipedia, the free encyclopedia

Guanine nucleotide binding protein (G protein), beta polypeptide 1-like

Identifiers

GNB1L; DGCRK3; FKSG1; GY2; KIAA1645; WDR14; WDVCF

External IDs

OMIM: 610778 MGI: 1338057 HomoloGene: 41515

Gene ontology
Molecular Function:	• molecular_function
Cellular Component:	• internal side of plasma membrane
Biological Process:	• G-protein coupled receptor protein signaling pathway • intracellular signaling cascade

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_053004 (mRNA)
NP_443730 (protein)

NM_001081682 (mRNA)
NP_001075151 (protein)

Location

n/a

Chr 16: 18.41 - 18.48 Mb

Pubmed search

[1]

[2]

Guanine nucleotide binding protein (G protein), beta polypeptide 1-like, also known as GNB1L, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like.

[edit] 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. 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. 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. 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. PMID 11258795.
Gong L, Liu M, Jen J, Yeh ET (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. PMID 11072084.
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.