• Gene id: 54584

Gene Summary

• Gene Symbol: GNB1L   Gene   UCSC   Ensembl
• Aliases: DGCRK3, FKSG1, GY2, WDR14, WDVCF
• Gene name: G protein subunit beta 1 like
• Alternate names: guanine nucleotide-binding protein subunit beta-like protein 1, G-protein beta subunit-like protein, WD repeat-containing protein 14, WD40 repeat-containing protein deleted in VCFS, g protein subunit beta-like protein 1, guanine nucleotide binding protein (G p,
• Gene location: 22q11.21 (19854873: 19783222)     Exons: 8     NC_000022.11
• Gene summary(Entrez): 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 facilit
• OMIM: 615130

Protein Summary

• Protein general information: Q9BYB4  
  • Name: Guanine nucleotide binding protein subunit beta like protein 1 (G protein subunit beta like protein 1) (DGCRK3) (WD repeat containing protein 14) (WD40 repeat containing protein deleted in VCFS) (WDVCF)
  • Length: 327  
  • Mass: 35618
  • Tissue specificity: Ubiquitous. Highly expressed in heart, liver, skeletal muscle, kidney, spleen, thymus and pancreas. Detected at low levels in lung, placenta and brain.
• Sequence:

  MTAPCPPPPPDPQFVLRGTQSPVHALHFCEGAQAQGRPLLFSGSQSGLVHIWSLQTRRAVTTLDGHGGQCVTWLQ
  TLPQGRQLLSQGRDLKLCLWDLAEGRSAVVDSVCLESVGFCRSSILAGGQPRWTLAVPGRGSDEVQILEMPSKTS
  VCALKPKADAKLGMPMCLRLWQADCSSRPLLLAGYEDGSVVLWDVSEQKVCSRIACHEEPVMDLDFDSQKARGIS
  GSAGKALAVWSLDWQQALQVRGTHELTNPGIAEVTIRPDRKILATAGWDHRIRVFHWRTMQPLAVLAFHSAAVQC
  VAFTADGLLAAGSKDQRISLWSLYPRA

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR019775  IPR017986  IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • STRING: ENSP00000331313
• Other Databases: GeneCards:  GNB1L  Malacards:  GNB1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035176	social behavior	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0035556	intracellular signal transduction	NAS	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0009898	cytoplasmic side of plasma membrane	NAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	NAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq