Human Gene GNB1L (ENST00000329517.11_7) from GENCODE V47lift37
  Description: G protein subunit beta 1 like (from RefSeq NM_053004.3)
Gencode Transcript: ENST00000329517.11_7
Gencode Gene: ENSG00000185838.14_10
Transcript (Including UTRs)
   Position: hg19 chr22:19,770,746-19,842,397 Size: 71,652 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr22:19,776,232-19,808,878 Size: 32,647 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:19,770,746-19,842,397)mRNA (may differ from genome)Protein (327 aa)
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-  Comments and Description Text from UniProtKB
  ID: GNB1L_HUMAN
DESCRIPTION: RecName: Full=Guanine nucleotide-binding protein subunit beta-like protein 1; Short=G protein subunit beta-like protein 1; AltName: Full=DGCRK3; AltName: Full=WD repeat-containing protein 14; AltName: Full=WD40 repeat-containing protein deleted in VCFS; Short=WDVCF;
TISSUE SPECIFICITY: Ubiquitous. Highly expressed in heart, liver, skeletal muscle, kidney, spleen, thymus and pancreas. Detected at low levels in lung, placenta and brain.
SIMILARITY: Contains 6 WD repeats.
SEQUENCE CAUTION: Sequence=BAB33315.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GNB1L
Diseases sorted by gene-association score: digeorge syndrome (15), hypopharynx cancer (9), spinal cord glioma (7), cat eye syndrome (6), spinal cord disease (5), velocardiofacial syndrome (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.83 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 171.22 RPKM


View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -73.00172-0.424 Picture PostScript Text
3' UTR -2383.505486-0.434 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50956 - Thermostable phytase (3-phytase)
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
117289 - Nucleoporin domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Peptidase/esterase 'gauge' domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - DPP6 N-terminal domain-like

ModBase Predicted Comparative 3D Structure on Q9BYB4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function

Biological Process:
GO:0007186 G-protein coupled receptor signaling pathway
GO:0035176 social behavior
GO:0035556 intracellular signal transduction

Cellular Component:
GO:0005737 cytoplasm
GO:0009898 cytoplasmic side of plasma membrane


-  Descriptions from all associated GenBank mRNAs
  AB051432 - Homo sapiens KIAA1645 mRNA for KIAA1645 protein.
AF301895 - Homo sapiens WDVCF (WDVCF) mRNA, complete cds.
BC012060 - Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like, mRNA (cDNA clone MGC:19898 IMAGE:4548339), complete cds.
AF238328 - Homo sapiens G protein beta-subunit-like polypeptide (GY2) mRNA, complete cds.
AY007378 - Homo sapiens G-protein beta subunit-like protein (FKSG1) mRNA, complete cds.
CR456496 - Homo sapiens GNB1L full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.GNB1L.V3).
CU013093 - Homo sapiens GNB1L, mRNA (cDNA clone IMAGE:100000352), complete cds, with stop codon, in Gateway system.
EU832517 - Synthetic construct Homo sapiens clone HAIB:100067546; DKFZo008H0129 guanine nucleotide binding protein (G protein), beta polypeptide 1-like protein (GNB1L) gene, encodes complete protein.
EU832598 - Synthetic construct Homo sapiens clone HAIB:100067627; DKFZo004H0130 guanine nucleotide binding protein (G protein), beta polypeptide 1-like protein (GNB1L) gene, encodes complete protein.
KJ894045 - Synthetic construct Homo sapiens clone ccsbBroadEn_03439 GNB1L gene, encodes complete protein.
AB384621 - Synthetic construct DNA, clone: pF1KA1645, Homo sapiens GNB1L gene for guanine nucleotide-binding protein subunit beta-like protein 1, complete cds, without stop codon, in Flexi system.
CU013381 - Homo sapiens GNB1L, mRNA (cDNA clone IMAGE:100000256), complete cds, without stop codon, in Gateway system.
CU680188 - Synthetic construct Homo sapiens gateway clone IMAGE:100017030 5' read GNB1L mRNA.
JD372918 - Sequence 353942 from Patent EP1572962.
JD475556 - Sequence 456580 from Patent EP1572962.
JD173335 - Sequence 154359 from Patent EP1572962.
JD125535 - Sequence 106559 from Patent EP1572962.
BX640969 - Homo sapiens mRNA; cDNA DKFZp686L20165 (from clone DKFZp686L20165).
BX640998 - Homo sapiens mRNA; cDNA DKFZp686K20165 (from clone DKFZp686K20165).
BC008696 - Homo sapiens hypothetical protein FLJ21125, mRNA (cDNA clone IMAGE:2820627), with apparent retained intron.
BX640785 - Homo sapiens mRNA; cDNA DKFZp686B0870 (from clone DKFZp686B0870).
AL832509 - Homo sapiens mRNA; cDNA DKFZp686O2252 (from clone DKFZp686O2252).
AK291262 - Homo sapiens cDNA FLJ77285 complete cds.
JD409771 - Sequence 390795 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000329517.1, ENST00000329517.10, ENST00000329517.2, ENST00000329517.3, ENST00000329517.4, ENST00000329517.5, ENST00000329517.6, ENST00000329517.7, ENST00000329517.8, ENST00000329517.9, FKSG1, GNB1L_HUMAN, GY2, KIAA1645, NM_053004, Q9BYB4, Q9H2S2, Q9H4M4, uc317sto.1, uc317sto.2, WDR14
UCSC ID: ENST00000329517.11_7
RefSeq Accession: NM_053004.3
Protein: Q9BYB4 (aka GNB1L_HUMAN or GN1L_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.