GNB1L (G protein subunit beta 1 like)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 54584
Gene name G protein subunit beta 1 like
Gene symbol GNB1L
Synonyms (NCBI Gene)
DGCRK3FKSG1GY2WDR14WDVCF
Chromosome 22
Chromosome location 22q11.21
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 facilit
miRNA miRNA information provided by mirtarbase database.
150
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (150)
miRTarBase ID miRNA Experiments Reference
MIRT483903 hsa-miR-4684-5p PAR-CLIP 20371350
MIRT483901 hsa-miR-4768-5p PAR-CLIP 20371350
MIRT483902 hsa-miR-6833-3p PAR-CLIP 20371350
MIRT483900 hsa-miR-6809-3p PAR-CLIP 20371350
MIRT483903 hsa-miR-4684-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0000077 Process DNA damage checkpoint signaling IMP 37541219
GO:0005634 Component Nucleus IDA 37541219
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 37541219
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610778 4397 ENSG00000185838
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BYB4
Protein 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)
Protein function Acts as a critical regulator of DNA damage response (DDR) signaling via specifically regulating phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 285 → 322 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highly expressed in heart, liver, skeletal muscle, kidney, spleen, thymus and pancreas. Detected at low levels in lung, placenta and brain. {ECO:0000269|PubMed:11072084}.
Sequence 
MTAPCPPPPPDPQFVLRGTQSPVHALHFCEGAQAQGRPLLFSGSQSGLVHIWSLQTRRAV
TTLDGHGGQCVTWLQTLPQGRQLLSQGRDLKLCLWDLAEGRSAVVDSVCLESVGFCRSSI
LAGGQPRWTLAVPGRGSDEVQILEMPSKTSVCALKPKADAKLGMPMCLRLWQADCSSRPL
LLAGYEDGSVVLWDVSEQKVCSRIACHEEPVMDLDFDSQKARGISGSAGKALAVWSLDWQ
QALQVRGTHELTNPGIAEVTIRPDRKILATAGWDHRIRVFHWRTMQPLAVLAFHSAAVQC
VAFTADGLLAAGSKDQRISLWSLYPRA
Sequence length 327
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
16
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colorectal cancer Uncertain significance rs770713977 RCV005928875
GNB1L-related disorder Uncertain significance; Likely benign; Benign rs2517210532, rs375516094, rs5748449, rs2073770, rs36070348, rs142592326, rs530939409, rs766117963, rs73148914, rs772935443, rs150444079, rs35178436, rs35995660, rs140821525 RCV003397339
RCV003923986
RCV003974624
RCV003984760
RCV003916788
RCV003939736
RCV003951598
RCV003961483
RCV003924466
RCV003957053
RCV003902500
RCV003913240
RCV003968065
RCV003920578
Squamous cell carcinoma of the head and neck Uncertain significance rs770713977 RCV005928874
Show/Hide Text Mining Associations (10)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
22q11 Deletion Syndrome Associate 19011233
Autism Spectrum Disorder Associate 22095694
Autistic Disorder Associate 22095694
Bipolar Disorder Associate 24831436
Carcinoma Hepatocellular Associate 22326833
Chromosome Deletion Associate 24831436
Glaucoma Open Angle Associate 33726755
Heart Septal Defects Ventricular Associate 19268070
Schizophrenia Associate 19011233, 22095694, 24831436
Schizophrenia Inhibit 19011233