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GNB1L
Identifiers
Aliases	GNB1L, DGCRK3, GY2, WDR14, WDVCF, FKSG1, G protein subunit beta 1 like
External IDs	OMIM: 610778; MGI: 1338057; HomoloGene: 41515; GeneCards: GNB1L; OMA:GNB1L - orthologs
Gene location (Human) Chr. Chromosome 22 (human) Band 22q11.21 Start 19,783,223 bp End 19,854,939 bp
Gene location (Mouse) Chr. Chromosome 16 (mouse) Band 16 A3|16 11.46 cM Start 18,317,463 bp End 18,385,429 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad stromal cell of endometrium granulocyte mucosa of transverse colon testicle prefrontal cortex right frontal lobe skin of leg skin of abdomen ventricular zone Top expressed in spermatocyte spermatid seminiferous tubule morula blastocyst embryo embryo yolk sac primary oocyte lip More reference expression data BioGPS n/a
Gene ontology Molecular function molecular function Cellular component cytoplasm cytoplasmic side of plasma membrane Biological process social behavior G protein-coupled receptor signaling pathway intracellular signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54584 13972 Ensembl ENSG00000185838 ENSMUSG00000000884 UniProt Q9BYB4 Q9EQ15 RefSeq (mRNA) NM_053004 NM_001081682 NM_001285491 NM_001285493 NM_001285494 NM_023120 RefSeq (protein) NP_443730 NP_001075151 NP_001272420 NP_001272422 NP_001272423 NP_075609 Location (UCSC) Chr 22: 19.78 – 19.85 Mb Chr 16: 18.32 – 18.39 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Guanine nucleotide-binding protein subunit beta-like protein 1 is a protein that in humans is encoded by the GNB1L gene.

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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000185838 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000000884 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. ^ "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. Bibcode:2004CBio...14.1296D. 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID 10591208.

• Genes on human chromosome 22