| Type | Description |
|---|---|
| Definition | G protein subunit beta 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-09-28 11:47:00 | In the new cohort of 18 patients, 50% of males had genitourinary anomalies and 61% of patients had gastrointestinal anomalies, suggesting a possible association of these findings with variants in GNB1. | 30194818 |
| 2018-09-22 11:47:00 | Mutation in the GNB1 gene is associated with neurodevelopmental disorder and cutaneous mastocytosis. | 29174093 |
| 2017-11-04 11:22:00 | Through analysis of the genomic and proteomic profiles of resistant cells, we identified an acquired mutation in the GNB1 gene, K89M, as the most likely cause of the resistance | 28650474 |
| 2017-05-20 13:14:00 | Germline Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. | 27108799 |
| 2017-05-20 12:27:00 | we demonstrate a pathogenic role of de novo and autosomal dominant mutations in GNB1 as a cause of Global developmental delay and provide insights how perturbation in heterotrimeric G protein function contributes to the disease | 28087732 |
| Type | IDs |
|---|---|
| Synonymous | MRD42 |
| Gene |
UniProtKB-ID:
GBB1_HUMAN,
A0A140VJJ8_HUMAN,
B3KVK2_HUMAN
UniprotKB:
P62873,
A0A140VJJ8,
B3KVK2
UniParc:
UPI00000230B3,
UPI00002177A7,
UPI0000D5B851
EMBL:
BC114618,
HM005385,
AK122949,
X04526,
AL031282,
BC008991,
BC004186,
CR456784,
BT007305,
AL109917,
CH471183,
BC005888,
KF495846,
M36430,
AF501882
Ensembl:
ENSG00000078369
KO:
hsa:2782
|
| Nucleutide sequences |
EMBL-CDS:
AAA63265.1,
AAH05888.1,
AAP35969.1,
CAA28207.1,
EAW56147.1,
AAI14619.1,
AAM15918.1,
AAH04186.1,
AAH08991.1,
CAG33065.1,
EAW56148.1,
AEE60985.1,
EAW56150.1,
EAW56149.1,
BAG53814.1
Gene_ORFName:
hCG_23470
Ensembl_TRS:
ENST00000378609,
ENST00000610897,
ENST00000615252
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000481878,
ENSP00000367872,
ENSP00000483532
RefSeq:
XP_016856550.1,
NP_001269468.1,
XP_024302263.1,
NP_001269467.1,
XP_016856549.1,
NP_002065.1,
XP_016856548.1
|
| Others |
UniRef100:
UniRef100_P62873,
UniRef100_B3KVK2
UniRef90:
UniRef90_A0A452E485,
UniRef90_P62873
UniRef50:
UniRef50_P62873,
UniRef50_P16520-2
UniGene:
Hs.430425
CCDS:
CCDS34.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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