GNB1
entrez
2782
canonical
uniprot
P62873
canonical
ensembl
ENSG00000078369
resolver
ensp
ENSP00000367872
resolver
ensp
ENSP00000399741
resolver
ensp
ENSP00000481878
resolver
ensp
ENSP00000483532
resolver
ensp
ENSP00000515428
resolver
ensp
ENSP00000515440
resolver
ensp
ENSP00000515441
resolver
ensp
ENSP00000515444
resolver
ensp
ENSP00000515445
resolver
ensp
ENSP00000569426
resolver
ensp
ENSP00000569427
resolver
ensp
ENSP00000569428
resolver
ensp
ENSP00000569432
resolver
ensp
ENSP00000569442
resolver
ensp
ENSP00000586746
resolver
ensp
ENSP00000586750
resolver
ensp
ENSP00000586755
resolver
ensp
ENSP00000586757
resolver
ensp
ENSP00000586767
resolver
ensp
ENSP00000586773
resolver
ensp
ENSP00000617586
resolver
ensp
ENSP00000617592
resolver
ensp
ENSP00000617594
resolver
ensp
ENSP00000710671
resolver
ensp
ENSP00000710676
resolver
enst
ENST00000439272
resolver
enst
ENST00000615252
resolver
enst
ENST00000703707
resolver
genesymbol
GNB1
resolver
hgnc
HGNC:4396
resolver
uniprot
A0A024R056
resolver
uniprot
A0A087X0N7
resolver
uniprot
A0A140VJJ8
resolver
uniprot
B1AJZ7
resolver
uniprot
B3KVK2
resolver
uniprot
F6X3N5
resolver
uniprot
P04697
resolver
uniprot
P04901
resolver
uniprot
Q1RMY8
resolver
uniprot_entry
A0A087X0N7_HUMAN
resolver
uniprot_entry
A0A140VJJ8_HUMAN
resolver
uniprot_entry
B3KVK2_HUMAN
resolver
uniprot_entry
F6X3N5_HUMAN
resolver
uniprot_entry
GBB1_HUMAN
resolver
uniprot_sec
A0A024R056
resolver
uniprot_sec
B1AJZ7
resolver
uniprot_sec
P04697
resolver
uniprot_sec
P04901
resolver
uniprot_sec
Q1RMY8
resolver
amino_acid_sequence
MSELDQLRQEAEQLKNQIRDARKACADATLSQITNNIDPVGRIQMRTRRTLRGHLAKIYAMHWGTDSRLLVSASQDGKLIIWDSYTTNKVHAIPLRSSWVMTCAYAPSGNYVACGGLDNICSIYNLKTREGNVRVSRELAGHTGYLSCCRFLDDNQIVTSSGDTTCALWDIETGQQTTTFTGHTGDVMSLSLAPDTRLFVSGACDASAKLWDVREGMCRQTFTGHESDINAICFFPNGNAFATGSDDATCRLFDLRADQELMTYSHDNIICGITSVSFSKSGRLLLAGYDDFNCNVWDALKADRAGVLAGHDNRVSCLGVTDDGMAVATGSWDSFLKIWN
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD42 patients manifest global developmental delay commonly accompanied by hypotonia, seizures of various types, ophthalmological manifestations, and poor growth. {ECO:0000269|PubMed:25485910, ECO:0000269|PubMed:27108799, ECO:0000269|PubMed:27668284, ECO:0000269|PubMed:28087732}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems (PubMed:29925951, PubMed:33762731, PubMed:34239069, PubMed:35610220, PubMed:35714614, PubMed:35835867, PubMed:36087581, PubMed:36989299, PubMed:37327704, PubMed:37935376, PubMed:37935377, PubMed:37963465, PubMed:37991948, PubMed:38168118, PubMed:38552625, PubMed:39103320). The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction (PubMed:29925951, PubMed:33762731, PubMed:34239069, PubMed:35610220, PubMed:35714614, PubMed:35835867, PubMed:36087581, PubMed:36989299, PubMed:37327704, PubMed:37935376, PubMed:37935377, PubMed:37963465, PubMed:38168118, PubMed:38552625, PubMed:39103320). Involved in bitter and sweet taste transduction as well as in umami (monosodium glutamate, monopotassium glutamate, and inosine monophosphate) taste transduction (PubMed:40339580, PubMed:38600377, PubMed:38776963). {ECO:0000269|PubMed:29925951, ECO:0000269|PubMed:33762731, ECO:0000269|PubMed:34239069, ECO:0000269|PubMed:35610220, ECO:0000269|PubMed:35714614, ECO:0000269|PubMed:35835867, ECO:0000269|PubMed:36087581, ECO:0000269|PubMed:36989299, ECO:0000269|PubMed:37327704, ECO:0000269|PubMed:37935376, ECO:0000269|PubMed:37935377, ECO:0000269|PubMed:37963465, ECO:0000269|PubMed:37991948, ECO:0000269|PubMed:38168118, ECO:0000269|PubMed:38552625, ECO:0000269|PubMed:38600377, ECO:0000269|PubMed:38776963, ECO:0000269|PubMed:39103320, ECO:0000269|PubMed:40339580}.
uniprot
proteins
mass_dalton
37377
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at His-266 by NDKB contributes to G protein activation by increasing the high energetic phosphate transfer onto GDP. {ECO:0000250}.
uniprot
proteins
protein_family
WD repeat G protein beta family
uniprot
proteins
pubmed
14512443
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18611381
uniprot
proteins
pubmed
19255495
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19713215
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21827955
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25485910
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27108799
uniprot
proteins
pubmed
27668284
uniprot
proteins
pubmed
28087732
uniprot
proteins
pubmed
29925951
uniprot
proteins
pubmed
3095147
uniprot
proteins
pubmed
33762731
uniprot
proteins
pubmed
33828102
uniprot
proteins
pubmed
34239069
uniprot
proteins
pubmed
34453129
uniprot
proteins
pubmed
34685729
uniprot
proteins
pubmed
35027551
uniprot
proteins
pubmed
35061538
uniprot
proteins
pubmed
35418677
uniprot
proteins
pubmed
35418678
uniprot
proteins
pubmed
35418679
uniprot
proteins
pubmed
35418682
uniprot
proteins
pubmed
35501348
uniprot
proteins
pubmed
35610220
uniprot
proteins
pubmed
35714614
uniprot
proteins
pubmed
35835867
uniprot
proteins
pubmed
35982227
uniprot
proteins
pubmed
36087581
uniprot
proteins
pubmed
36171289
uniprot
proteins
pubmed
36989299
uniprot
proteins
pubmed
37327704
uniprot
proteins
pubmed
37935376
uniprot
proteins
pubmed
37935377
uniprot
proteins
pubmed
37963465
uniprot
proteins
pubmed
37991948
uniprot
proteins
pubmed
38168118
uniprot
proteins
pubmed
38552625
uniprot
proteins
pubmed
38600377
uniprot
proteins
pubmed
38776963
uniprot
proteins
pubmed
39103320
uniprot
proteins
pubmed
39833471
uniprot
proteins
pubmed
40339580
uniprot
proteins
sequence_length
340
uniprot
proteins