GNB1L

Guanine nucleotide-binding protein subunit beta-like protein 1 is a protein that in humans is encoded by the GNB1L gene.[5][6]

GNB1L
Identifiers
AliasesGNB1L, DGCRK3, GY2, WDR14, WDVCF, FKSG1, G protein subunit beta 1 like
External IDsOMIM: 610778 MGI: 1338057 HomoloGene: 41515 GeneCards: GNB1L
Orthologs
SpeciesHumanMouse
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 MbChr 16: 18.32 – 18.39 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  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

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