| バックグラウンド: | 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. |
| UniProt Protein Function: | GNB1L: 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Chromosomal Location of Human Ortholog: 22q11.2 Cellular Component: internal side of plasma membrane; cytoplasm Biological Process: G-protein coupled receptor protein signaling pathway; social behavior |
| NCBI Summary: | 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. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q9BYB4 |
| NCBI GenInfo Identifier: | 17402902 |
| NCBI Gene ID: | 54584 |
| NCBI Accession: | NP_443730.1 |
| UniProt Secondary Accession: | Q9BYB4,Q9H2S2, Q9H4M4, |
| UniProt Related Accession: | Q9BYB4 |
| Molecular Weight: | 22,896 Da |
| NCBI Full Name: | guanine nucleotide-binding protein subunit beta-like protein 1 |
| NCBI Synonym Full Names: | guanine nucleotide binding protein (G protein), beta polypeptide 1-like |
| NCBI Official Symbol: | GNB1L |
| NCBI Official Synonym Symbols: | GY2; FKSG1; WDR14; WDVCF; DGCRK3 |
| NCBI Protein Information: | guanine nucleotide-binding protein subunit beta-like protein 1 |
| UniProt Protein Name: | Guanine nucleotide-binding protein subunit beta-like protein 1 |
| UniProt Synonym Protein Names: | DGCRK3; WD repeat-containing protein 14; WD40 repeat-containing protein deleted in VCFS; WDVCF |
| Protein Family: | Guanine nucleotide-binding protein subunit beta-like protein |
| UniProt Gene Name: | GNB1L |
| UniProt Entry Name: | GNB1L_HUMAN |
