Property Summary

NCBI Gene PubMed Count 25
PubMed Score 4.23
PubTator Score 6.47

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9HAV0 B3KMH5 D3DNR8
Symbols CMTD1F

Gene

Gene RIF (8)

PMID Text
25916507 Suggest Gbeta4gamma1 as a modulator of M3 muscarinic receptor signaling.
23434117 Analysis of GNB4 in an additional 88 unrelated CMT individuals uncovered another de novo mutation.
19414374 Intron-1 haplotypes of GNB4 is associated with colorectal carcinoma.
19414374 Observational study of gene-disease association. (HuGE Navigator)
18815590 Intron-1 haplotypes of GNB4 may, thus, serve as predictive markers for progression and survival of patients suffering from bladder cancer.
18815590 Observational study of gene-disease association. (HuGE Navigator)
12782285 Gbeta4 is widely expressed, located on chromosome 3 with a genomic structure like Gbeta1 to Gbeta3, but different from Gbeta5
12454992 Gbeta4 subunit is coexpressed in physiologically ON-type cone bipolar cells with Ggamma13 and Gbeta3 but is not present in OFF-type bipolar cells.

AA Sequence

MSELEQLRQEAEQLRNQIQDARKACNDATLVQITSNMDSVGRIQMRTRRTLRGHLAKIYAMHWGYDSRLL      1 - 70
VSASQDGKLIIWDSYTTNKMHAIPLRSSWVMTCAYAPSGNYVACGGLDNICSIYNLKTREGNVRVSRELP     71 - 140
GHTGYLSCCRFLDDSQIVTSSGDTTCALWDIETAQQTTTFTGHSGDVMSLSLSPDMRTFVSGACDASSKL    141 - 210
WDIRDGMCRQSFTGHVSDINAVSFFPNGYAFATGSDDATCRLFDLRADQELLLYSHDNIICGITSVAFSK    211 - 280
SGRLLLAGYDDFNCNVWDTLKGDRAGVLAGHDNRVSCLGVTDDGMAVATGSWDSFLRIWN              281 - 340
//

Text Mined References (26)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25916507 2015 G?4?1 as a modulator of M3 muscarinic receptor signalling and novel roles of G?1 subunits in the modulation of cellular signalling.
23583979 2013 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23434117 2013 Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease.
23209302 2012 KIF14 negatively regulates Rap1a-Radil signaling during breast cancer progression.
22926577 2012 Quantitative proteomic analysis of human substantia nigra in Alzheimer's disease, Huntington's disease and Multiple sclerosis.
21269460 2011 Initial characterization of the human central proteome.
19414374 2009 Association of GNB4 intron-1 haplotypes with survival in patients with UICC stage III and IV colorectal carcinoma.
18815590 2008 Characterization of intron-1 haplotypes of the G protein beta 4 subunit gene--association with survival and progression in patients with urothelial bladder carcinoma.
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