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Aliases for GNB1L Gene

Aliases for GNB1L Gene

  • G Protein Subunit Beta 1 Like 2 3
  • Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 1-Like 2 3 5
  • WD40 Repeat-Containing Protein Deleted In VCFS 3 4
  • G Protein Subunit Beta-Like Protein 1 3 4
  • WD Repeat-Containing Protein 14 3 4
  • DGCRK3 3 4
  • WDR14 3 4
  • WDVCF 3 4
  • GY2 3 4
  • Guanine Nucleotide Binding Protein Beta-Subunit-Like Polypeptide 3
  • G-Protein Beta Subunit-Like Protein 3
  • KIAA1645 4
  • FKSG1 3

External Ids for GNB1L Gene

Previous GeneCards Identifiers for GNB1L Gene

  • GC22M016716
  • GC22M018145
  • GC22M018150
  • GC22M003395

Summaries for GNB1L Gene

Entrez Gene Summary for GNB1L Gene

  • 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]

GeneCards Summary for GNB1L Gene

GNB1L (G Protein Subunit Beta 1 Like) is a Protein Coding gene. Diseases associated with GNB1L include digeorge syndrome and hypopharynx cancer. Among its related pathways are G-protein activation and ERK Signaling.

Gene Wiki entry for GNB1L Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNB1L Gene

Genomics for GNB1L Gene

Regulatory Elements for GNB1L Gene

Enhancers for GNB1L Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GNB1L on UCSC Golden Path with GeneCards custom track

Promoters for GNB1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GNB1L on UCSC Golden Path with GeneCards custom track

Genomic Location for GNB1L Gene

Chromosome:
22
Start:
19,783,224 bp from pter
End:
19,854,939 bp from pter
Size:
71,716 bases
Orientation:
Minus strand

Genomic View for GNB1L Gene

Genes around GNB1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNB1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNB1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNB1L Gene

Proteins for GNB1L Gene

  • Protein details for GNB1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYB4-GNB1L_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein subunit beta-like protein 1
    Protein Accession:
    Q9BYB4
    Secondary Accessions:
    • Q9H2S2
    • Q9H4M4

    Protein attributes for GNB1L Gene

    Size:
    327 amino acids
    Molecular mass:
    35618 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB33315.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GNB1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNB1L Gene

Proteomics data for GNB1L Gene at MOPED

Post-translational modifications for GNB1L Gene

  • Ubiquitination at Lys 91 and Lys 220
  • Modification sites at PhosphoSitePlus

Other Protein References for GNB1L Gene

Antibody Products

No data available for DME Specific Peptides for GNB1L Gene

Domains & Families for GNB1L Gene

Gene Families for GNB1L Gene

Protein Domains for GNB1L Gene

Suggested Antigen Peptide Sequences for GNB1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BYB4

UniProtKB/Swiss-Prot:

GNB1L_HUMAN :
  • Contains 7 WD repeats.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with GNB1L: view

Function for GNB1L Gene

Gene Ontology (GO) - Molecular Function for GNB1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with GNB1L: view
genes like me logo Genes that share phenotypes with GNB1L: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GNB1L

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GNB1L Gene

Localization for GNB1L Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GNB1L Gene COMPARTMENTS Subcellular localization image for GNB1L gene
Compartment Confidence
plasma membrane 5
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GNB1L Gene

Pathways & Interactions for GNB1L Gene

genes like me logo Genes that share pathways with GNB1L: view

Pathways by source for GNB1L Gene

1 PharmGKB pathway for GNB1L Gene
1 Qiagen pathway for GNB1L Gene

Interacting Proteins for GNB1L Gene

Gene Ontology (GO) - Biological Process for GNB1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035176 social behavior IEA --
genes like me logo Genes that share ontologies with GNB1L: view

No data available for SIGNOR curated interactions for GNB1L Gene

Drugs & Compounds for GNB1L Gene

No Compound Related Data Available

Transcripts for GNB1L Gene

Unigene Clusters for GNB1L Gene

Guanine nucleotide binding protein (G protein), beta polypeptide 1-like:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GNB1L Gene

No ASD Table

Relevant External Links for GNB1L Gene

GeneLoc Exon Structure for
GNB1L
ECgene alternative splicing isoforms for
GNB1L

Expression for GNB1L Gene

mRNA expression in normal human tissues for GNB1L Gene

Protein differential expression in normal tissues from HIPED for GNB1L Gene

This gene is overexpressed in Monocytes (35.2), CD8 Tcells (12.1), and CD4 Tcells (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GNB1L Gene



SOURCE GeneReport for Unigene cluster for GNB1L Gene Hs.105642

mRNA Expression by UniProt/SwissProt for GNB1L Gene

Q9BYB4-GNB1L_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in heart, liver, skeletal muscle, kidney, spleen, thymus and pancreas. Detected at low levels in lung, placenta and brain.
genes like me logo Genes that share expression patterns with GNB1L: view

Protein tissue co-expression partners for GNB1L Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GNB1L Gene

Orthologs for GNB1L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GNB1L Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GNB1L 35
  • 83.02 (n)
  • 77.53 (a)
GNB1L 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNB1L 35
  • 86.05 (n)
  • 84.62 (a)
GNB1L 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gnb1l 35
  • 82 (n)
  • 81.47 (a)
Gnb1l 16
Gnb1l 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnb1l 35
  • 82.43 (n)
  • 79.55 (a)
oppossum
(Monodelphis domestica)
Mammalia GNB1L 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNB1L 36
  • 57 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GNB1L 36
  • 98 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNB1L 35
  • 65.71 (n)
  • 59.94 (a)
GNB1L 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnb1l 35
  • 59.89 (n)
  • 57.42 (a)
zebrafish
(Danio rerio)
Actinopterygii gnb1l 35
  • 58.66 (n)
  • 53.57 (a)
gnb1l 36
  • 50 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2409 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011814 35
  • 50.06 (n)
  • 36.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG13192 35
  • 44.6 (n)
  • 32.01 (a)
CG13192 36
  • 30 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB2757 35
  • 41.78 (n)
  • 36.84 (a)
rice
(Oryza sativa)
Liliopsida Os06g0131100 35
  • 42.08 (n)
  • 35.74 (a)
Species with no ortholog for GNB1L:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GNB1L Gene

ENSEMBL:
Gene Tree for GNB1L (if available)
TreeFam:
Gene Tree for GNB1L (if available)

Paralogs for GNB1L Gene

Pseudogenes.org Pseudogenes for GNB1L Gene

genes like me logo Genes that share paralogs with GNB1L: view

No data available for Paralogs for GNB1L Gene

Variants for GNB1L Gene

Sequence variations from dbSNP and Humsavar for GNB1L Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs2073770 - 19,802,018(+) CTGCC(A/C)GTCCA reference, missense
VAR_035882 A breast cancer sample
rs35178436 - 19,821,268(-) TCTGC(A/G)AAGGA reference, missense
rs5748449 - 19,821,246(+) GCGGG(A/C/T)GCCCC reference, missense
rs2239894 -- 19,789,989(+) GATGA(C/T)GGGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GNB1L Gene

Variant ID Type Subtype PubMed ID
nsv435744 CNV Deletion 17901297
nsv914263 CNV Gain 21882294
nsv834128 CNV Loss 17160897
nsv914279 CNV Loss 21882294
dgv4841n71 CNV Loss 21882294
nsv828938 CNV Gain 20364138
nsv828939 CNV Loss 20364138
nsv517478 CNV Loss 19592680
nsv834129 CNV Loss 17160897
nsv914288 CNV Loss 21882294
dgv725n67 CNV Gain 20364138
nsv828943 CNV Loss 20364138
nsv471181 CNV Loss 18288195
dgv4843n71 CNV Loss 21882294
dgv4844n71 CNV Loss 21882294
dgv4845n71 CNV Loss 21882294
nsv914296 CNV Loss 21882294
nsv438325 CNV Loss 16468122
dgv4846n71 CNV Loss 21882294
esv2662570 CNV Deletion 23128226
nsv834130 CNV Loss 17160897
nsv828949 CNV Gain 20364138
dgv4847n71 CNV Loss 21882294

Variation tolerance for GNB1L Gene

Residual Variation Intolerance Score: 85.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.51; 82.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNB1L Gene

HapMap Linkage Disequilibrium report
GNB1L
Human Gene Mutation Database (HGMD)
GNB1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNB1L Gene

Disorders for GNB1L Gene

MalaCards: The human disease database

(7) MalaCards diseases for GNB1L Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
digeorge syndrome
  • digeorge sequence
hypopharynx cancer
  • hypopharyngeal cancer
spinal cord glioma
  • glial neoplasm spinal cord
spinal cord disease
  • myelopathy
cat eye syndrome
  • ces
- elite association - COSMIC cancer census association via MalaCards
Search GNB1L in MalaCards View complete list of genes associated with diseases

Relevant External Links for GNB1L

Genetic Association Database (GAD)
GNB1L
Human Genome Epidemiology (HuGE) Navigator
GNB1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GNB1L
genes like me logo Genes that share disorders with GNB1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GNB1L Gene

Publications for GNB1L Gene

  1. GNB1L, a gene deleted in the critical region for DiGeorge syndrome on 22q11, encodes a G-protein beta-subunit-like polypeptide. (PMID: 11072084) Gong L. … Yeh E.T.H. (Biochim. Biophys. Acta 2000) 2 3 4 23 67
  2. Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11. (PMID: 11350118) Funke B. … Morrow B.E. (Genomics 2001) 3 23
  3. The schizophrenia/bipolar disorder candidate gene GNB1L is regulated in human temporal cortex by a cis-acting element located within the 3'-region. (PMID: 24831436) Sun Y. … Saffen D. (Neurosci Bull 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for GNB1L Gene

Sources for GNB1L Gene

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