Protein : GNAS
Owner Public
URN urn:agi-llid:2778
Hugo ID 4392
Connectivity 561
Name GNAS
Description GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus
Notes This gene has a highly complex imprinted expression pattern. It encodes maternally, paternally, and biallelically expressed proteins which are derived from alternatively spliced transcripts with alternate 5' exons. Each of the upstream exons is within a differentially methylated region, commonly found in imprinted genes. However, the close proximity (14 kb) of two oppositely expressed promoter regions is unusual. In addition, one of the alternate 5' exons introduces a frameshift relative to the other transcripts, resulting in one isoform which is structurally unrelated to the others. An antisense transcript exists, and may regulate imprinting in this region. Mutations in this gene result in pseudohypoparathyroidism type 1a (PHP1a), which has an atypical autosomal dominant inheritance pattern requiring maternal transmission for full penetrance. There are RefSeqs representing four transcript variants of this gene. Other transcript variants including four additional exons have been described; however, their full length sequences have not been determined.
MGI ID 95777
Cell Localization Plasma membrane
Pathway HTR7
GNAS
HTR6
HTR4
CREB signaling
AGTR1 -> ELK1-SRF signaling pathway
AGTR1 -> ELK4-SRF signaling pathway
AGTR1 -> TP53 signaling pathway
AGTR2 -> CREB1 signaling pathway
VIPR1 -> CEBPB signaling pathway
AGTR2 -> ELK1-SRF signaling pathway
AGTR2 -> ELK4-SRF signaling pathway
VIPR1 -> CEBPD signaling pathway
AGTR2 -> TP53 signaling pathway
VIPR1 -> CREB1 signaling pathway
PTGIR -> ATF1 signaling pathway
PTGIR -> CREB1 signaling pathway
PTGIR -> ELK1-SRF signaling pathway
PTGIR -> ELK4-SRF signaling pathway
PTGIR -> MYC signaling pathway
TACR1 -> ELK1-SRF signaling pathway
TACR1 -> ELK4-SRF signaling pathway
FSHR -> CREB1 signaling pathway
FSHR -> ELK1-SRF signaling pathway
FSHR -> ELK4-SRF signaling pathway
FSHR -> GATA4 signaling pathway
GCGR -> CREB1 signaling pathway
GCGR -> ELK1-SRF signaling pathway
GCGR -> ELK4-SRF signaling pathway
GCGR -> SP1 signaling pathway
ADRB1 -> STAT3 signaling pathway
ADRB2 -> CREB1 signaling pathway
ADRB2 -> STAT3 signaling pathway
ADRB3 -> STAT3 signaling pathway
DRD1 -> CREB1 signaling pathway
DRD1 -> ELK1-SRF signaling pathway
DRD1 -> ELK4-SRF signaling pathway
AGTR1 -> CREB1 signaling pathway
Aquaporin
Group Gtp binding proteins
signal transduction
G-protein coupled receptor protein signaling pathway
G-protein signaling, adenylate cyclase activating pathway
energy reserve metabolism
pregnancy
protein secretion
response to drug
extracellular region
membrane fraction
plasma membrane
heterotrimeric G-protein complex
molecular_function
signal transducer activity
nucleotide binding
guanyl nucleotide binding
GTP binding
GTPase activity
GenBank ID NC_000020
NM_016592
NP_057676
NM_080425
NP_536350
NM_000516
NP_000507
NM_080426
NP_536351
NT_011362
NW_927339
AC_000063
AF107846
AAD11804
AJ009849
CAA08889
AJ224868
CAA12165
AJ251760
CAB83214
CAB83215
AL109840
CAI42910
CAI42911
CAI42912
CAI42913
CAI42914
CAI42915
CAI42916
CAI42917
CAI42918
CAI42919
CAI42920
CAI42921
CAI42922
CAI42923
CAI42924
CAI42925
CAI42926
CAI42927
CAI42928
CAI42929
CAI42930
CAI42931
CAI42932
CAI42933
CAI42934
CAI42935
AL121917
CAI42542
CAI42543
CAI42544
CAI42545
CAI42546
CAI42547
CAI42548
CAI42549
CAI42550
CAI42551
CAI42552
CAI42553
CAI42554
CAI42555
CAI42556
CAI42557
CAI42558
CAI42559
CAI42560
CAI42561
CAI42562
CAI42563
CAI42564
CAI42565
CAI42566
CAI42567
CAI42568
CAI42569
CAI42570
CAI42571
AL132655
CAI43073
CAI43074
CAI43075
CAI43076
CAI43077
CAI43078
AY898804
AAX51890
M21139
AAA53146
M21142
AAA53147
AAA53148
AAA53149
U12466
AAB60334
AF064092
AAC16860
AF088184
AAC34896
AF088185
AAC34897
AF105253
AAF63226
AF493897
AAM12611
AF493898
AAM12612
AJ224867
CAA12164
AK026564
AK054862
AK093534
AK122771
BC002722
AAH02722
BC008855
AAH08855
BC022875
AAH22875
BC036081
AAH36081
BC066923
AAH66923
BC089157
AAH89157
BC104928
AAI04929
BC108315
AAI08316
BT009905
AAP88907
CR590357
CR592583
CR593409
CR593521
CR595856
CR597302
CR600603
CR600905
CR601034
CR601981
CR603550
CR604005
CR604615
CR604694
CR604909
CR605974
CR606529
CR608368
CR609306
CR610196
CR611023
CR611320
CR611596
CR612941
CR615348
CR618575
CR619300
CR619319
CR620225
CR621928
CR623718
M14631
AAA52583
M77026
X04408
CAA27996
X04409
CAA27997
X07036
CAA30084
X56009
CAA39484
O60726
O75632
O75633
O75684
O75685
O95417
O95467
P63092
Q14433
Q14455
Q5FWY2
Q5JW64
Q5JW67
Q5JWC3
Q5JWC4
Q5JWC5
Q5JWC6
Q5JWC7
Q5JWC8
Q5JWC9
Q5JWD0
Q5JWD1
Q5JWD2
Q5JWD4
Q5JWD5
Q5JWD6
Q5JWD7
Q5JWD8
Q5JWD9
Q5JWE0
Q5JWE1
Q5JWE2
Q5JWE3
Q5JWE4
Q5JWE5
Q5JWE6
Q5JWE8
Q5JWE9
Q5JWF1
Q5JWF2
Q6NXS0
Q8TBC0
Q9NY42
NC_000068
NM_010310
NP_034440
NM_019690
NP_062664
NM_022000
NP_068840
NM_010309
NP_034439
NT_108907
NW_000180
NW_001030712
AC_000024
AF125257
AF125315
AAD27843
AF152375
AAF89525
AF319946
AJ245401
CAB57280
AJ245739
CAB57283
AJ251761
CAB83218
CAB83219
AL593857
AY518305
AAR99380
AY518306
AAR99381
AY518307
AAR99382
AY518308
AAR99383
L27661
AAA37718
AF107847
AAD11805
AF107848
AAD11806
AAD11807
AF116268
AAD14686
AF124383
AF124384
AAF89524
AF125259
AAD27619
AF175305
AAD55061
AJ010163
CAA09026
AK017423
AK020895
AK030489
BAC26987
AK039035
BAC30214
AK045792
AK047990
AK078037
AK082220
AK085136
AK086317
BAC39648
AK086715
BAC39727
AK132636
AK147051
BAE27636
AK159563
BAE35187
AK161197
AK168996
BAE40795
AK178212
AK182236
AK182338
AK183674
AK186374
AK187312
AK197380
AK199482
AK214310
AK215851
AW048640
AY519501
AAS00601
AY519502
AAS00602
AY519503
AAS00603
AY519504
AAS00604
AY682719
BC013824
BC013840
BC018408
BC034446
BC038067
AAH38067
BC048834
AAH48834
BC061496
AAH61496
BC062654
AAH62654
BC080816
AAH80816
BC092055
AAH92055
BC106133
AAI06134
M13964
AAA37745
S49979
AAB24002
S49980
AAB24003
S79606
Y00703
CAA68695
P63094
Q58E62
Q6LEA6
Q9JJ21
Q9WUC0
Source Curated
LocusLink ID 2778
14683
Organism Homo sapiens
Mus musculus
OMIM ID 139320
102200
174800
166350
103580
603233
Alias XL
AHO
GSA
GSP
POH
XL2
GPSA
NESP
SCG6
GNAS1
PHP1A
PHP1B
GNASXL
NESP55
C20orf45
MGC33735
XLalphas
dJ309F20.1.1
dJ806M20.3.3
RP4-543J19.4
guanine nucleotide binding protein, alpha stimulating activity polypeptide 1
G-s-alpha
neuroendocrine secretory protein 55
guanine nucleotide regulatory protein
neuroendocrine-specific Golgi protein p55
paternally expressed G protein XL alpha S
adenylate cyclase-stimulating G alpha protein
guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1
P1
P2
P3
Nespl
Oedsml
Oed-Sml
Gs-alpha
MGC118029
5530400H20Rik
A930027G11Rik
C130027O20Rik
guanine nucleotide binding protein alpha stimulating
Gs alpha
G alpha s
XL alpha s
Gs alpha subunit
oedematous-small
neuroendocrine secretory protein
stimulatory G-protein alpha subunit
neuroendocrine-specific Golgi protein p55 isoform 1
guanine nucleotide binding protein, alpha stimulating, extra large
GO ID 0005525
0003924
0019001
0005554
0000166
0004871
0007186
0007189
0007565
0009306
0007165
0005576
0005834
0005886
0006112
0042493
0005624
Swiss-Prot Accession O60726
O75632
O75633
O75684
O75685
O95417
O95467
P63092
Q14433
Q14455
Q5FWY2
Q5JW64
Q5JW67
Q5JWC3
Q5JWC4
Q5JWC5
Q5JWC6
Q5JWC7
Q5JWC8
Q5JWC9
Q5JWD0
Q5JWD1
Q5JWD2
Q5JWD4
Q5JWD5
Q5JWD6
Q5JWD7
Q5JWD8
Q5JWD9
Q5JWE0
Q5JWE1
Q5JWE2
Q5JWE3
Q5JWE4
Q5JWE5
Q5JWE6
Q5JWE8
Q5JWE9
Q5JWF1
Q5JWF2
Q6NXS0
Q8TBC0
Q9NY42
P63094
Q58E62
Q6LEA6
Q9JJ21
Q9WUC0
MedScan ID 2778
Unigene ID Hs.125898
Mm.125770
LocatorString pmquery:aquaporin