GNB1L

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GNB1L
Identifiers
Aliases GNB1L, DGCRK3, GY2, WDR14, WDVCF, FKSG1, G protein subunit beta 1 like
External IDs MGI: 1338057 HomoloGene: 41515 GeneCards: GNB1L
Gene location (Human)
Chromosome 22 (human)
Chr. Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for GNB1L
Genomic location for GNB1L
Band 22q11.21 Start 19,783,224 bp[1]
End 19,854,939 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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: 18.5 – 18.57 Mb
PubMed search [3] [4]
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[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000185838 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000884 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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. ^ a b "Entrez Gene: GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like". 

Further reading[edit]