Gnb1 Gene Detail

Summary

• Symbol
  Gnb1
• Name
  guanine nucleotide binding protein (G protein), beta 1

• Feature Type
  protein coding gene
• IDs
  MGI:95781
  NCBI Gene: 14688
• Alliance
  gene page
• Transcription Start Sites
  22 TSS
• Candidate for QTL
  1 QTL

Location &
Maps

• Sequence Map
  Chr4:155575818-155643726 bp, + strand

  From Ensembl annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 4, 86.17 cM
• Mapping Data
  15 experiments

Strain
Comparison

• SNPs within 2kb
  2242 from dbSNP Build 142
• Strain Annotations
  18
• RFLP
  4

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_95781	protein coding gene	Chr4:155575514-155643726 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0029215	protein coding gene	Chr4:159826105-159901693 (+)
A/J	MGP_AJ_G0029180	protein coding gene	Chr4:153110274-153179036 (+)
AKR/J	MGP_AKRJ_G0029128	protein coding gene	Chr4:157269980-157342160 (+)
BALB/cJ	MGP_BALBcJ_G0029196	protein coding gene	Chr4:153580830-153652327 (+)
C3H/HeJ	MGP_C3HHeJ_G0028917	protein coding gene	Chr4:157815981-157890148 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029645	protein coding gene	Chr4:165513905-165584092 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026891	protein coding gene	Chr4:145402665-145467765 (+)
CAST/EiJ	MGP_CASTEiJ_G0028330	protein coding gene	Chr4:155256055-155330486 (+)
CBA/J	MGP_CBAJ_G0028879	protein coding gene	Chr4:170507442-170584306 (+)
DBA/2J	MGP_DBA2J_G0029028	protein coding gene	Chr4:153130479-153198681 (+)
FVB/NJ	MGP_FVBNJ_G0028992	protein coding gene	Chr4:152369232-152438704 (+)
LP/J	MGP_LPJ_G0029118	protein coding gene	Chr4:159747752-159819921 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029019	protein coding gene	Chr4:173328501-173401916 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029677	protein coding gene	Chr4:157891491-157966341 (+)
PWK/PhJ	MGP_PWKPhJ_G0028050	protein coding gene	Chr4:149265671-149336664 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027884	protein coding gene	Chr4:152150288-152219526 (+)
WSB/EiJ	MGP_WSBEiJ_G0028410	protein coding gene	Chr4:158064028-158138253 (+)

Homology

• Human Ortholog
  GNB1, G protein subunit beta 1

• Vertebrate Orthologs
  4

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  GNB1, G protein subunit beta 1
  
• Synonyms
  HG2A, MDS, MRD42
• Links
  HGNC:4396

  NCBI Gene ID: 2782

  neXtProt AC: NX_P62873

  UniProt: P62873

  
  
• Chr Location
  1p36.33; chr1:1785285-1892292 (-)  GRCh38

---

• MGI Vertebrate Homology
  Gnb1 stringent orthology
  1 human;1 mouse;1 rat;2 zebrafish
  
• HCOP
  vertebrate homology predictions: GNB1
• Protein SuperFamily
  GN-bd_beta
• Gene Tree
  Gnb1
  

Human Diseases

• Diseases
  4 with human GNB1 associations

				Human Disease	Mouse Models
				acute lymphoblastic leukemia IDs acute lymphoblastic leukemia       DOID:9952 EFO:0000220 ICD10CM:C91.00 ICD9CM:204.0 NCI:C3167 NCI:C7055 OMIM:247640 OMIM:613065 ORDO:513 UMLS_CUI:C0023449 UMLS_CUI:C1335469
				autosomal dominant intellectual developmental disorder 42 IDs autosomal dominant intellectual developmental disorder 42       DOID:0070072 OMIM:616973
				congestive heart failure IDs congestive heart failure       DOID:6000 DOID:395 ICD10CM:I50 ICD10CM:I50.9 ICD9CM:428 ICD9CM:428.0 ICD9CM:428.9 MESH:D006333 NCI:C3080 NCI:C50577 UMLS_CUI:C0018801 UMLS_CUI:C0018802
				myelodysplastic syndrome IDs myelodysplastic syndrome       DOID:0050908 MESH:D009190 OMIM:614286 UMLS_CUI:C2713368

Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  37 phenotypes from 4 alleles in 5 genetic backgrounds
  26 phenotype references
  

• All Mutations and Alleles
  72
• Endonuclease-mediated
  5
• Gene trapped
  65
• Radiation induced
  1
• Targeted
  1
• Genomic Mutations
  1 involving Gnb1
• Incidental Mutations
  Mutagenetix , APF
• Find Mice (IMSR)
  62 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype

Heterozygous null mice have an abnormal retina morphology with progressive degeneration. Mice homozygous for a mutation of this gene show prenatal or perinatal lethality with exencephaly and/or small brain. Heterozygosity for the p.K78R mutation leads to decreased body size, abnormal locomotor behavior, impaired spatial learning and memory and increased susceptibility to seizures.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  34
• GO References
  16

Expression

• Assay Results
  814
• Tissues
  81
• cDNA Data
  14
• Literature Summary
  15

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase gnb1
  ZFIN gnb1a, gnb1b

Sequences &
Gene Models

• All Sequences
  104
• RefSeq
  22
• UniProt
  6
• CCDS
  CCDS19030.1

• Ensembl
  ENSMUSG00000029064 (Evidence)
• NCBI Gene
  14688

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000029064	Ensembl Gene Model | MGI Sequence Detail	67909	C57BL/6J
transcript	ENSMUST00000176637	Ensembl | MGI Sequence Detail	2832	Not Applicable
polypeptide	ENSMUSP00000135091	Ensembl | MGI Sequence Detail	340	Not Applicable

Protein
Information

• UniProt
  6 Sequences
• Protein Ontology
  PR:000008095 guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1
  (term hierarchy)
• PDB
  6K41, 6K42, 6RMV, 7Y12, 7Y15, 8IHB, 8IHF, 8IHH, 8IHI, 8IHJ
• InterPro Domains
  IPR001632 G-protein, beta subunit
  IPR020472 G-protein beta WD-40 repeat
  IPR016346 Guanine nucleotide-binding protein, beta subunit
  IPR001680 WD40 repeat
  IPR019775 WD40 repeat, conserved site
  IPR036322 WD40-repeat-containing domain superfamily
  IPR015943 WD40/YVTN repeat-like-containing domain superfamily
• GlyGen
  P62874 2 sites, 1 O-linked glycan (2 sites)

Molecular
Reagents

• All nucleic 24

  Genomic 1

  cDNA 16

  Primer pair 6

  Other 1

  
  

  Microarray probesets 7

Other
Accession IDs

MGD-MRK-10195, MGD-MRK-10200, MGI:2140144, MGI:2140659

References

• Summaries
  All 107

  Developmental Gene Expression 15

  Gene Ontology 16

  Phenotypes 26
• Earliest
  J:12496 Kozak C, et al., Chromosome assignment in the mouse of the genes for several proteins involved in visual transduction. Cytogenet Cell Genet. 1989;51:1025-1026 (Abstr.)
• Latest
  J:354849 Wutikeli H, et al., Role of Elavl-like RNA-binding protein in retinal development and signal transduction. Biochim Biophys Acta Mol Basis Dis. 2024 Sep 20;1871(1):167518

TSS for Gnb1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr40644	Chr4:155575507-155575526 (+)	-301 bp
Tssr40645	Chr4:155575810-155575868 (+)	21 bp
Tssr40646	Chr4:155579671-155579683 (+)	3,859 bp
Tssr40647	Chr4:155594979-155594982 (+)	19,163 bp
Tssr40648	Chr4:155606986-155607000 (+)	31,175 bp
Tssr40649	Chr4:155607017-155607048 (+)	31,215 bp
Tssr40650	Chr4:155607049-155607079 (+)	31,246 bp
Tssr40651	Chr4:155621254-155621258 (+)	45,438 bp
Tssr40652	Chr4:155627513-155627533 (+)	51,705 bp
Tssr40653	Chr4:155631312-155631326 (+)	55,501 bp
Tssr40654	Chr4:155631432-155631449 (+)	55,623 bp
Tssr40655	Chr4:155637875-155637892 (+)	62,066 bp
Tssr40656	Chr4:155639521-155639538 (+)	63,712 bp
Tssr40657	Chr4:155639603-155639649 (+)	63,808 bp
Tssr40658	Chr4:155641620-155641657 (+)	65,821 bp
Tssr40659	Chr4:155642198-155642210 (+)	66,386 bp
Tssr40660	Chr4:155642397-155642425 (+)	66,593 bp
Tssr40661	Chr4:155642478-155642500 (+)	66,671 bp
Tssr40662	Chr4:155642567-155642572 (+)	66,752 bp
Tssr40663	Chr4:155642714-155642736 (+)	66,907 bp
Tssr40664	Chr4:155643252-155643265 (+)	67,441 bp
Tssr40665	Chr4:155643415-155643438 (+)	67,609 bp

Gnb1 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Ap3q	Chr4, 82.64 cM	Chr4:151654451-151654550	J:110030	Candidate genes for alcohol traits were identified using gene expression analysis. Total brain RNA from 70-90 day old male mice were hybridized to DNA microarrays to detect expression differences between high and low alcohol preference selection lines (HAP and LAP, respectively) and high and low tolerance selection lines (HAFT and LAFT, respectively). All selection lines were derived from HS/Ibg and were between 19 to 24 generations of selective breeding. Candidate genes mapping to previously identified expression and behavior QTL intervals are described below. Candidate genes were also confirmed using strain distribution patterns from 30 BXD (C=C57BL/6J; D=DBA/2J) recombinant inbred (RI) strains. Kif5c (32.5 cM) on mouse Chromosome 2 exhibits differential expression between high and low acute functional tolerance strains in the BXD RI set. This gene maps near previously identified alcohol preference QTLs Alcp1 (47.5 cM), Ap2q (34 cM), Etohc1 (28 cM), Etohc2 (50 cM), and Alpq2 (45 cM). Gstm1 (108.39 Mb) on mouse Chromosome 3 is more highly expressed in high alcohol preferring lines compared to low alcohol preferring lines. D3Ertd254e (aka LOC241944) at 19 cM exhibits differential expression between high and low acute functional tolerance strains in theBXD RI set. This gene maps near a previously identified locus at D3Pas1 (22.7 cM) associated with basal cAMP signaling. Gnb1 at 79.4 cM (153.38 Mb) on mouse Chromosome 4 is more highly expressed in low alcohol preference lines compared to high alcohol preference lines (LOD=17.13). This gene maps near previously identified alcohol preference QTL Ap3q at 81 cM. Evi5 (56 cM ) and Pdap1 on mouse Chromosome 5 exhibits differential expression between high and low acute functional tolerance strains in the BXDRI set. These genes map near a locus at D5Mit201 (44 cM) suggestively linked to alcohol preference. On mouse Chromosome 9, 4930422I07Rik (88.99 Mb), D930028F11Rik (expressed sequence C130036J11; 48.5 Mb), and Mthfs (130.69 Mb) are more highly expressedin high alcohol preference lines compared to low alcohol preference lines (LOD=7.46, 9.5, and 7.16, respectively). Hyou1 (44.48 Mb) is more highly expressed in low alcohol preference lines compared to high alcohol preference lines (LOD=4.18). Hyou1 and D930028F11Rik map to the Alpq3 (alcohol preference QTL 3) interval (17 cM - 53 cM). Flnb on mouse Chromosome 14 exhibits differential expression between high and low acute functional tolerance strains in the BXD RI set. This gene maps near a previously identified QTL at D14Byu1 (o.5 cM) associated with basal and forskolin-induced cAMP signaling. Brd2 at 18.5 cM (31.81 Mb) on mouse Chromosome 17 is more highly expressed in high alcohol preferring lines compared to low alcohol preferring lines (LOD=3.93). Galnt1 (24.43 Mb) on mouse Chromosome 18 is more highly expressed in high alcohol preference lines compared to low alcohol preference lines (LOD=2.93). Tbl1x (30.9 cM) on mouse Chromosome X exhibits differential expression between high and low acute functional tolerance strains in the BXD RI set.

*cM position of peak correlated region/marker