GNB1L

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
Gene location (Human)
Chr.	Chromosome 22 (human)[1]
End	19,854,939 bp[1]
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)[2]
End	18,385,429 bp[2]
RNA expression pattern
	Top expressed in
	stromal cell of endometrium; ; prefrontal cortex; ; skin of abdomen; ; Brodmann area 9; ; blood; ; spleen; ; popliteal artery; ; gastrocnemius muscle; ; embryo; ; ganglionic eminence;
	Top expressed in
	spermatocyte; ; spermatid; ; seminiferous tubule; ; morula; ; yolk sac; ; blastocyst; ; lip; ; thymus; ; neural tube; ; proximal tubule;
	More reference expression data
	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
	54584
	13972
	ENSG00000185838
	ENSMUSG00000000884
	Q9BYB4
	Q9EQ15
	NM_053004
	NM_001081682; NM_001285491; NM_001285493; NM_001285494; NM_023120
	NP_443730
	NP_001075151; NP_001272420; NP_001272422; NP_001272423; NP_075609
	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.[5][6]

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.[6]

References

GRCh38: Ensembl release 89: ENSG00000185838 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000000884 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
"Entrez Gene: GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like".

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. 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.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000185838 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid11072084-5] 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.

[entrez-6] "Entrez Gene: GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like".

GNB1L

References

Further reading