KEGG   Homo sapiens (human): 2778Help
Entry
2778              CDS       T01001                                 

Gene name
GNAS, AHO, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, PITA3, POH, SCG6, SgVI
Definition
(RefSeq) GNAS complex locus
  KO
K04632  guanine nucleotide-binding protein G(s) subunit alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa01522  Endocrine resistance
hsa04015  Rap1 signaling pathway
hsa04020  Calcium signaling pathway
hsa04024  cAMP signaling pathway
hsa04072  Phospholipase D signaling pathway
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04270  Vascular smooth muscle contraction
hsa04540  Gap junction
hsa04611  Platelet activation
hsa04713  Circadian entrainment
hsa04714  Thermogenesis
hsa04724  Glutamatergic synapse
hsa04726  Serotonergic synapse
hsa04728  Dopaminergic synapse
hsa04730  Long-term depression
hsa04750  Inflammatory mediator regulation of TRP channels
hsa04911  Insulin secretion
hsa04912  GnRH signaling pathway
hsa04913  Ovarian steroidogenesis
hsa04915  Estrogen signaling pathway
hsa04916  Melanogenesis
hsa04918  Thyroid hormone synthesis
hsa04921  Oxytocin signaling pathway
hsa04922  Glucagon signaling pathway
hsa04923  Regulation of lipolysis in adipocytes
hsa04924  Renin secretion
hsa04925  Aldosterone synthesis and secretion
hsa04926  Relaxin signaling pathway
hsa04927  Cortisol synthesis and secretion
hsa04928  Parathyroid hormone synthesis, secretion and action
hsa04934  Cushing syndrome
hsa04961  Endocrine and other factor-regulated calcium reabsorption
hsa04962  Vasopressin-regulated water reabsorption
hsa04970  Salivary secretion
hsa04971  Gastric acid secretion
hsa04972  Pancreatic secretion
hsa04976  Bile secretion
hsa05030  Cocaine addiction
hsa05031  Amphetamine addiction
hsa05032  Morphine addiction
hsa05034  Alcoholism
hsa05110  Vibrio cholerae infection
hsa05142  Chagas disease (American trypanosomiasis)
hsa05146  Amoebiasis
hsa05163  Human cytomegalovirus infection
hsa05165  Human papillomavirus infection
hsa05200  Pathways in cancer
hsa05414  Dilated cardiomyopathy (DCM)
Module
hsa_M00695  cAMP signaling
Network
N00288  PTH-PTH1R-PKA signaling pathway
N00289  Mutation-inactivated GNAS to PTH-PTH1R-PKA signaling pathway
N00297  ACTH-cortisol signaling pathway
N00298  CYP11B1-CYP11B2 fusion to ACTH-cortisol signaling pathway
N00299  Mutation-inactivated MC2R to ACTH-cortisol signaling pathway
N00300  Mutation-inactivated MRAP to ACTH-cortisol signaling pathway
N00321  Mutation-activated GNAS to ACTH-cortisol signaling pathway
N00324  CRHR-PKA-ACTH signaling pathway
N00326  Mutation-activated GNAS to CRHR-PKA-ACTH signaling pathway
N00327  Mutation-inactivated PRKAR1A to CRHR-PKA-ACTH signaling pathway
N00410  DRD1-GNAS-AC-PKA signaling pathway
N00411  HCMV UL33 to GNAS-AC-PKA signaling pathway
Disease
H00244  Pseudohypoparathyroidism
H00441  Progressive osseous heteroplasia (POH)
H00501  Fibrous dysplasia, polyostotic
H01102  Pituitary adenomas
H01431  Cushing syndrome
H01483  Acromegaly
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04015 Rap1 signaling pathway
    2778 (GNAS)
   04020 Calcium signaling pathway
    2778 (GNAS)
   04072 Phospholipase D signaling pathway
    2778 (GNAS)
   04024 cAMP signaling pathway
    2778 (GNAS)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04540 Gap junction
    2778 (GNAS)
 09150 Organismal Systems
  09151 Immune system
   04611 Platelet activation
    2778 (GNAS)
  09152 Endocrine system
   04911 Insulin secretion
    2778 (GNAS)
   04922 Glucagon signaling pathway
    2778 (GNAS)
   04923 Regulation of lipolysis in adipocyte
    2778 (GNAS)
   04912 GnRH signaling pathway
    2778 (GNAS)
   04913 Ovarian Steroidogenesis
    2778 (GNAS)
   04915 Estrogen signaling pathway
    2778 (GNAS)
   04921 Oxytocin signaling pathway
    2778 (GNAS)
   04926 Relaxin signaling pathway
    2778 (GNAS)
   04918 Thyroid hormone synthesis
    2778 (GNAS)
   04928 Parathyroid hormone synthesis, secretion and action
    2778 (GNAS)
   04916 Melanogenesis
    2778 (GNAS)
   04924 Renin secretion
    2778 (GNAS)
   04925 Aldosterone synthesis and secretion
    2778 (GNAS)
   04927 Cortisol synthesis and secretion
    2778 (GNAS)
  09153 Circulatory system
   04261 Adrenergic signaling in cardiomyocytes
    2778 (GNAS)
   04270 Vascular smooth muscle contraction
    2778 (GNAS)
  09154 Digestive system
   04970 Salivary secretion
    2778 (GNAS)
   04971 Gastric acid secretion
    2778 (GNAS)
   04972 Pancreatic secretion
    2778 (GNAS)
   04976 Bile secretion
    2778 (GNAS)
  09155 Excretory system
   04962 Vasopressin-regulated water reabsorption
    2778 (GNAS)
   04961 Endocrine and other factor-regulated calcium reabsorption
    2778 (GNAS)
  09156 Nervous system
   04724 Glutamatergic synapse
    2778 (GNAS)
   04728 Dopaminergic synapse
    2778 (GNAS)
   04726 Serotonergic synapse
    2778 (GNAS)
   04730 Long-term depression
    2778 (GNAS)
  09157 Sensory system
   04750 Inflammatory mediator regulation of TRP channels
    2778 (GNAS)
  09159 Environmental adaptation
   04713 Circadian entrainment
    2778 (GNAS)
   04714 Thermogenesis
    2778 (GNAS)
 09160 Human Diseases
  09161 Cancers
   05200 Pathways in cancer
    2778 (GNAS)
  09164 Substance dependence
   05030 Cocaine addiction
    2778 (GNAS)
   05031 Amphetamine addiction
    2778 (GNAS)
   05032 Morphine addiction
    2778 (GNAS)
   05034 Alcoholism
    2778 (GNAS)
  09165 Cardiovascular diseases
   05414 Dilated cardiomyopathy (DCM)
    2778 (GNAS)
  09166 Endocrine and metabolic diseases
   04934 Cushing syndrome
    2778 (GNAS)
  09167 Infectious diseases
   05110 Vibrio cholerae infection
    2778 (GNAS)
   05163 Human cytomegalovirus infection
    2778 (GNAS)
   05165 Human papillomavirus infection
    2778 (GNAS)
   05146 Amoebiasis
    2778 (GNAS)
   05142 Chagas disease (American trypanosomiasis)
    2778 (GNAS)
  09168 Drug resistance
   01522 Endocrine resistance
    2778 (GNAS)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    2778 (GNAS)
   04031 GTP-binding proteins [BR:hsa04031]
    2778 (GNAS)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of haemopoietic cells  (B-cell, T-cell, DC-cell, reticulocyte, and mast cell)
   2778 (GNAS)
  Exosomal proteins of other body fluids (saliva and urine)
   2778 (GNAS)
  Exosomal proteins of colorectal cancer cells
   2778 (GNAS)
  Exosomal proteins of bladder cancer cells
   2778 (GNAS)
GTP-binding proteins [BR:hsa04031]
 Heterotrimeric G-proteins
  Alpha Subunits
   Alpha type 2 (Gs)
    2778 (GNAS)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: G-alpha Arf Gtr1_RagA Roc GTP_EFTU AAA_29
Motif
Other DBs
NCBI-GeneID: 2778
NCBI-ProteinID: NP_000507
OMIM: 139320
HGNC: 4392
Ensembl: ENSG00000087460
Vega: OTTHUMG00000033069
Pharos: O95467(Tbio) P63092(Tbio)
UniProt: P63092 O95467 A0A0S2Z3H8
Structure
PDB: 

Position
20q13.32
AA seq 394 aa AA seqDB search
MGCLGNSKTEDQRNEEKAQREANKKIEKQLQKDKQVYRATHRLLLLGAGESGKSTIVKQM
RILHVNGFNGEGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAAMSNLVPPVELA
NPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWEDEGVRACYERSNEYQLIDCAQYFLD
KIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQCFND
VTAIIFVVASSSYNMVIREDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEK
VLAGKSKIEDYFPEFARYTTPEDATPEPGEDPRVTRAKYFIRDEFLRISTASGDGRHYCY
PHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL
NT seq 1185 nt NT seq  +upstreamnt  +downstreamnt
atgggctgcctcgggaacagtaagaccgaggaccagcgcaacgaggagaaggcgcagcgt
gaggccaacaaaaagatcgagaagcagctgcagaaggacaagcaggtctaccgggccacg
caccgcctgctgctgctgggtgctggagaatctggtaaaagcaccattgtgaagcagatg
aggatcctgcatgttaatgggtttaatggagagggcggcgaagaggacccgcaggctgca
aggagcaacagcgatggtgagaaggcaaccaaagtgcaggacatcaaaaacaacctgaaa
gaggcgattgaaaccattgtggccgccatgagcaacctggtgccccccgtggagctggcc
aaccccgagaaccagttcagagtggactacatcctgagtgtgatgaacgtgcctgacttt
gacttccctcccgaattctatgagcatgccaaggctctgtgggaggatgaaggagtgcgt
gcctgctacgaacgctccaacgagtaccagctgattgactgtgcccagtacttcctggac
aagatcgacgtgatcaagcaggctgactatgtgccgagcgatcaggacctgcttcgctgc
cgtgtcctgacttctggaatctttgagaccaagttccaggtggacaaagtcaacttccac
atgtttgacgtgggtggccagcgcgatgaacgccgcaagtggatccagtgcttcaacgat
gtgactgccatcatcttcgtggtggccagcagcagctacaacatggtcatccgggaggac
aaccagaccaaccgcctgcaggaggctctgaacctcttcaagagcatctggaacaacaga
tggctgcgcaccatctctgtgatcctgttcctcaacaagcaagatctgctcgctgagaaa
gtccttgctgggaaatcgaagattgaggactactttccagaatttgctcgctacactact
cctgaggatgctactcccgagcccggagaggacccacgcgtgacccgggccaagtacttc
attcgagatgagtttctgaggatcagcactgccagtggagatgggcgtcactactgctac
cctcatttcacctgcgctgtggacactgagaacatccgccgtgtgttcaacgactgccgt
gacatcattcagcgcatgcaccttcgtcagtacgagctgctctaa

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