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GNB1L G protein subunit beta 1 like [ Homo sapiens (human) ]

Gene ID: 54584, updated on 3-Jun-2018
Official Symbol
GNB1Lprovided by HGNC
Official Full Name
G protein subunit beta 1 likeprovided by HGNC
Primary source
HGNC:HGNC:4397
See related
Ensembl:ENSG00000185838 MIM:610778; Vega:OTTHUMG00000150279
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GY2; FKSG1; WDR14; WDVCF; DGCRK3
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]
Expression
Ubiquitous expression in spleen (RPKM 1.9), duodenum (RPKM 1.5) and 25 other tissues See more
Orthologs
See GNB1L in Genome Data Viewer
Location:
22q11.21
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (19788411..19854939, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19775932..19842462, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372861 Neighboring gene VISTA enhancer hs515 Neighboring gene T-box 1 Neighboring gene ribosomal protein L7a pseudogene 70 Neighboring gene retrotransposon Gag like 10 Neighboring gene thioredoxin reductase 2 Neighboring gene ribosomal protein L8 pseudogene 5 Neighboring gene catechol-O-methyltransferase Neighboring gene microRNA 4761

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1645

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
G-protein coupled receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
intracellular signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
social behavior IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic side of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
guanine nucleotide-binding protein subunit beta-like protein 1
Names
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 protein), beta polypeptide 1-like
guanine nucleotide binding protein beta-subunit-like polypeptide

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_053004.2NP_443730.1  guanine nucleotide-binding protein subunit beta-like protein 1

    See identical proteins and their annotated locations for NP_443730.1

    Status: VALIDATED

    Source sequence(s)
    AY007378, CA425124
    Consensus CDS
    CCDS13768.1
    UniProtKB/Swiss-Prot
    Q9BYB4
    Related
    ENSP00000331313.6, OTTHUMP00000028644, ENST00000329517.10, OTTHUMT00000075202
    Conserved Domains (2) summary
    sd00039
    Location:70110
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:14322
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    19788411..19854939 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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