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Aliases for GNB1L Gene

Aliases for GNB1L Gene

  • G Protein Subunit Beta 1 Like 2 3 5
  • Guanine Nucleotide Binding Protein (G Protein), Beta Polypeptide 1-Like 2 3
  • 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
  • Guanine Nucleotide-Binding Protein Subunit Beta-Like Protein 1 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 ADP signalling through P2Y purinoceptor 12 and ERK Signaling.

Gene Wiki entry for GNB1L Gene

Additional gene information for GNB1L Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H019874 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.1 -24.0 -23979 9 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 FOS SP5 RPL8P5 LOC100420177 LINC01311 TXNRD2 ZNF74 DGCR8 ENSG00000273343 TRMT2A KLHL22 GNB1L
GH22H019852 1.4 ENCODE dbSUPER 11.3 -0.1 -110 4 HDGF MLX ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 TRMT2A LINC01311 TXNRD2 RTL10 DGCR8 GNB1L RPL8P5 RANBP1 ESS2 LOC100420177
GH22H019884 1.7 FANTOM5 Ensembl ENCODE dbSUPER 6.9 -31.7 -31711 5 PKNOX1 ATF1 ZNF766 ATF7 EGR2 ZBTB2 CEBPB HDAC8 HMBOX1 MYC TXNRD2 RPL8P5 GNB1L RTL10 COMT TRMT2A GC22M019875
GH22H019760 1.8 VISTA Ensembl ENCODE 5.9 +90.6 90616 8 HDGF PKNOX1 ATF1 FOXA2 ARNT ZNF2 TCF12 GATA2 FOS ATF7 LINC01311 DGCR8 LOC100420177 TRMT2A ZDHHC8 RANBP1 RPL8P5 KLHL22 UFD1 ABHD17AP4
GH22H019848 1 ENCODE dbSUPER 10 +5.0 5038 3 ZIC2 IRF9 ZNF664 POLR2A PATZ1 FOS ZNF600 PRDM10 MAFK CHD2 TXNRD2 RPL8P5 GNB1L RTL10 PIR57779 PIR37749
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000143807 139 2001 HDGF MLX ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3

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

Post-translational modifications for GNB1L Gene

  • Ubiquitination at posLast=9191 and isoforms=220
  • Modification sites at PhosphoSitePlus

Other Protein References for GNB1L Gene

No data available for DME Specific Peptides for GNB1L Gene

Domains & Families for GNB1L Gene

Gene Families for GNB1L Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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

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

Function for GNB1L Gene

Phenotypes From GWAS Catalog 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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GNB1L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNB1L gene
Compartment Confidence
plasma membrane 5
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GNB1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0009898 cytoplasmic side of plasma membrane NAS 11072084
genes like me logo Genes that share ontologies with GNB1L: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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

Gene Ontology (GO) - Biological Process for GNB1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G-protein coupled receptor signaling pathway NAS 11072084
GO:0035176 social behavior IEA --
GO:0035556 intracellular signal transduction NAS 11072084
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GNB1L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for GNB1L Gene



Protein tissue co-expression partners for GNB1L Gene

NURSA nuclear receptor signaling pathways regulating expression of GNB1L Gene:

GNB1L

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.

Evidence on tissue expression from TISSUES for GNB1L Gene

  • Nervous system(4.8)
  • Lung(4.4)
genes like me logo Genes that share expression patterns with GNB1L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia GNB1L 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNB1L 33 34
  • 86.05 (n)
cow
(Bos Taurus)
Mammalia GNB1L 33 34
  • 83.02 (n)
rat
(Rattus norvegicus)
Mammalia Gnb1l 33
  • 82.43 (n)
mouse
(Mus musculus)
Mammalia Gnb1l 33 16 34
  • 82 (n)
oppossum
(Monodelphis domestica)
Mammalia GNB1L 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNB1L 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNB1L 33 34
  • 65.71 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia gnb1l 33
  • 59.89 (n)
zebrafish
(Danio rerio)
Actinopterygii gnb1l 33 34
  • 58.66 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2409 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011814 33
  • 50.06 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG13192 33 34
  • 44.6 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons EMB2757 33
  • 41.78 (n)
rice
(Oryza sativa)
Liliopsida Os06g0131100 33
  • 42.08 (n)
Species where no ortholog for GNB1L was found in the sources mined by GeneCards:
  • 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

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
rs61758989 A breast cancer sample 19,788,807(+) AGCGG(C/T)GCTGT reference, missense
rs1000004808 -- 19,789,743(+) CGGGA(G/T)GAGGA intron-variant
rs1000054201 -- 19,831,145(+) GACTT(A/G)AGGTC intron-variant
rs1000127248 -- 19,832,693(+) AGAGA(A/G)AAGCT intron-variant
rs1000141169 -- 19,794,413(+) CTAAG(G/T)AGACT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1288e212 CNV loss 25503493
dgv725n67 CNV gain 20364138
dgv7983n54 CNV gain 21841781
esv2662570 CNV deletion 23128226
esv3568260 CNV loss 25503493
esv3568263 CNV loss 25503493
esv3575418 CNV gain 25503493
esv3647279 CNV gain 21293372
esv3893434 CNV gain 25118596
nsv438325 CNV loss 16468122
nsv471181 CNV loss 18288195
nsv517478 CNV loss 19592680
nsv588216 CNV gain 21841781
nsv828938 CNV gain 20364138
nsv828939 CNV loss 20364138
nsv828943 CNV loss 20364138
nsv828949 CNV gain 20364138
nsv834128 CNV loss 17160897
nsv834129 CNV loss 17160897
nsv834130 CNV loss 17160897
nsv953024 CNV deletion 24416366
nsv964584 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
GNB1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNB1L

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

Disorders for GNB1L Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
digeorge syndrome
  • digeorge sequence
hypopharynx cancer
  • hypopharyngeal cancer
spinal cord glioma
  • glial neoplasm spinal cord
cat eye syndrome
  • ces
spinal cord disease
  • myelopathy
- 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 ET (Biochimica et biophysica acta 2000) 2 3 4 22 60
  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 BE (Genomics 2001) 3 4 22 60
  3. Supportive evidence for reduced expression of GNB1L in schizophrenia. (PMID: 19011233) Ishiguro H … Arinami T (Schizophrenia bulletin 2010) 3 45 60
  4. Strong evidence that GNB1L is associated with schizophrenia. (PMID: 18003636) Williams NM … Owen MJ (Human molecular genetics 2008) 3 45 60
  5. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 60

Products for GNB1L Gene

Sources for GNB1L Gene

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