Gene/Proteome Database (LMPD)

LMPD ID
LMP006612
Gene ID
Species
Homo sapiens (Human)
Gene Name
GNAS complex locus
Gene Symbol
Synonyms
AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP; PHP1A; PHP1B; PHP1C; POH
Chromosome
20
Map Location
20q13.3
Summary
This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]
Orthologs

Proteins

protein ALEX isoform Alex
Refseq ID NP_001070958
Protein GI 117938768
UniProt ID P63092
mRNA ID NM_001077490
Length 626
RefSeq Status REVIEWED
MMARPVDPQRSPDPTFRSSTRHSGKLEPMEATAHLLRKQCPSRLNSPAWEASGLHWSSLDSPVGSMQALRPSAQHSWSPEPSVVPDQAWEDTALHQKKLCPLSLTSLPREAAVNFSYRSQTLLQEAQVLQGSPELLPRSPKPSGLQRLAPEEATALPLRRLCHLSLMEKDLGTTAHPRGFPELSHKSTAAASSRQSRPRVRSASLPPRTRLPSGSQAPSAAHPKRLSDLLLTSRAAAPGWRSPDPRSRLAAPPLGSTTLPSTWTAPQSRLTARPSRSPEPQIRESEQRDPQLRRKQQRWKEPLMPRREEKYPLRGTDPLPPGQPQRIPLPGQPLQPQPILTPGQPQKIPTPGQHQPILTPGHSQPIPTPGQPLPPQPIPTPGRPLTPQPIPTPGRPLTPQPIQMPGRPLRLPPPLRLLRPGQPMSPQLRQTQGLPLPQPLLPPGQPKSAGRPLQPLPPGPDARSISDPPAPRSRLPIRLLRGLLARLPGGASPRAAAAAACTTMKGWPAATMTPAETSPTMGPPDASAGFSIGEIAAAESPSATYSATFSCKPSGAASVDLRVPSPKPRALSRSRRYPWRRSADRCAKKPWRSGPRSAQRRNAVSSSTNNSRTKRWATCVRTACCF
protein GNAS isoform GNASL
Refseq ID NP_000507
Protein GI 4504047
UniProt ID P63092
mRNA ID NM_000516
Length 394
RefSeq Status REVIEWED
MGCLGNSKTEDQRNEEKAQREANKKIEKQLQKDKQVYRATHRLLLLGAGESGKSTIVKQMRILHVNGFNGEGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAAMSNLVPPVELANPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWEDEGVRACYERSNEYQLIDCAQYFLDKIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQCFNDVTAIIFVVASSSYNMVIREDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFARYTTPEDATPEPGEDPRVTRAKYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL
protein GNAS isoform GNASS
Refseq ID NP_536351
Protein GI 18426900
UniProt ID P63092
mRNA ID NM_080426
Length 380
RefSeq Status REVIEWED
MGCLGNSKTEDQRNEEKAQREANKKIEKQLQKDKQVYRATHRLLLLGAGESGKSTIVKQMRILHVNGFNGDSEKATKVQDIKNNLKEAIETIVAAMSNLVPPVELANPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWEDEGVRACYERSNEYQLIDCAQYFLDKIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQCFNDVTAIIFVVASSSYNMVIREDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFARYTTPEDATPEPGEDPRVTRAKYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL
protein GNAS isoform XLas
Refseq ID NP_536350
Protein GI 117938759
UniProt ID P63092
mRNA ID NM_080425
Length 1037
RefSeq Status REVIEWED
MGVRNCLYGNNMSGQRDIPPEIGEQPEQPPLEAPGAAAPGAGPSPAEEMETEPPHNEPIPVENDGEACGPPEVSRPNFQVLNPAFREAGAHGSYSPPPEEAMPFEAEQPSLGGFWPTLEQPGFPSGVHAGLEAFGPALMEPGAFSGARPGLGGYSPPPEEAMPFEFDQPAQRGCSQLLLQVPDLAPGGPGAAGVPGAPPEEPQALRPAKAGSRGGYSPPPEETMPFELDGEGFGDDSPPPGLSRVIAQVDGSSQFAAVAASSAVRLTPAANAPPLWVPGAIGSPSQEAVRPPSNFTGSSPWMEISGPPFEIGSAPAGVDDTPVNMDSPPIALDGPPIKVSGAPDKRERAERPPVEEEAAEMEGAADAAEGGKVPSPGYGSPAAGAASADTAARAAPAAPADPDSGATPEDPDSGTAPADPDSGAFAADPDSGAAPAAPADPDSGAAPDAPADPDSGAAPDAPADPDAGAAPEAPAAPAAAETRAAHVAPAAPDAGAPTAPAASATRAAQVRRAASAAPASGARRKIHLRPPSPEIQAADPPTPRPTRASAWRGKSESSRGRRVYYDEGVASSDDDSSGDESDDGTSGCLRWFQHRRNRRRRKPQRNLLRNFLVQAFGGCFGRSESPQPKASRSLKVKKVPLAEKRRQMRKEALEKRAQKRAEKKRSKLIDKQLQDEKMGYMCTHRLLLLGAGESGKSTIVKQMRILHVNGFNGEGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIVAAMSNLVPPVELANPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWEDEGVRACYERSNEYQLIDCAQYFLDKIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQCFNDVTAIIFVVASSSYNMVIREDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFARYTTPEDATPEPGEDPRVTRAKYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL
protein GNAS isoform f
Refseq ID NP_001070956
Protein GI 117938762
UniProt ID P63092
mRNA ID NM_001077488
Length 395
RefSeq Status REVIEWED
MGCLGNSKTEDQRNEEKAQREANKKIEKQLQKDKQVYRATHRLLLLGAGESGKSTIVKQMRILHVNGFNGEGGEEDPQAARSNSDGSEKATKVQDIKNNLKEAIETIVAAMSNLVPPVELANPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWEDEGVRACYERSNEYQLIDCAQYFLDKIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQCFNDVTAIIFVVASSSYNMVIREDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFARYTTPEDATPEPGEDPRVTRAKYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL
protein GNAS isoform g
Refseq ID NP_001070957
Protein GI 117938765
UniProt ID P63092
mRNA ID NM_001077489
Length 379
RefSeq Status REVIEWED
MGCLGNSKTEDQRNEEKAQREANKKIEKQLQKDKQVYRATHRLLLLGAGESGKSTIVKQMRILHVNGFNGDEKATKVQDIKNNLKEAIETIVAAMSNLVPPVELANPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWEDEGVRACYERSNEYQLIDCAQYFLDKIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQCFNDVTAIIFVVASSSYNMVIREDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFARYTTPEDATPEPGEDPRVTRAKYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL
protein NESP55 isoform NESP55
Refseq ID NP_057676
Protein GI 7706589
UniProt ID O95467
mRNA ID NM_016592
Length 245
RefSeq Status REVIEWED
MDRRSRAQQWRRARHNYNDLCPPIGRRAATALLWLSCSIALLRALATSNARAQQRAAAQQRRSFLNAHHRSGAQVFPESPESESDHEHEEADLELSLPECLEYEEEFDYETESETESEIESETDFETEPETAPTTEPETEPEDDRGPVVPKHSTFGQSLTQRLHALKLRSPDASPSRAPPSTQEPQSPREGEELKPEDKDPRDPEESKEPKEEKQRRRCKPKKPTRRDASPESPSKKGPIPIRRH

Gene Information

Entrez Gene ID
Gene Name
GNAS complex locus
Gene Symbol
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005737 IDA:UniProt C cytoplasm
GO:0031410 IEA:UniProtKB-KW C cytoplasmic vesicle
GO:0005576 IEA:UniProtKB-KW C extracellular region
GO:0005634 IDA:UniProt C nucleus
GO:0048471 IDA:UniProt C perinuclear region of cytoplasm
GO:0007565 NAS:UniProtKB P female pregnancy
GO:0040015 ISS:UniProt P negative regulation of multicellular organism growth
GO:0009306 NAS:UniProtKB P protein secretion
GO:0071107 IMP:UniProt P response to parathyroid hormone

KEGG Pathway Links

KEGG Pathway ID Description
hsa04750 Inflammatory mediator regulation of TRP channels
hsa04921 Oxytocin signaling pathway
hsa04611 Platelet activation
hsa04024 cAMP signaling pathway

Domain Information

InterPro Annotations

Accession Description
IPR009434 Neuroendocrine-specific golgi P55

UniProt Annotations

Entry Information

Gene Name
GNAS complex locus
Protein Entry
GNAS2_HUMAN
UniProt ID
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=7; Name=Nesp55 {ECO
Disease ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1) [MIM
Disease GNAS hyperfunction (GNASHYP) [MIM
Disease Pseudohypoparathyroidism 1B (PHP1B) [MIM
Miscellaneous The GNAS locus is imprinted in a complex manner, giving rise to distinct paternally, maternally and biallelically expressed proteins. The XLas isoforms are paternally derived, the Gnas isoforms are biallelically derived and the Nesp55 isoforms are maternally derived.
Miscellaneous This protein is produced by a bicistronic gene which also produces the ALEX protein from an overlapping reading frame.
Ptm Binds keratan sulfate chains.
Ptm May be proteolytically processed to give rise to a number of active peptides.
Similarity Belongs to the NESP55 family.
Subcellular Location Cytoplasmic vesicle, secretory vesicle {ECO

Identical and Related Proteins

Unique RefSeq proteins for LMP006612 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
117938768 RefSeq NP_001070958 626 protein ALEX isoform Alex
4504047 RefSeq NP_000507 394 protein GNAS isoform GNASL
18426900 RefSeq NP_536351 380 protein GNAS isoform GNASS
117938759 RefSeq NP_536350 1037 protein GNAS isoform XLas
117938762 RefSeq NP_001070956 395 protein GNAS isoform f
117938765 RefSeq NP_001070957 379 protein GNAS isoform g
7706589 RefSeq NP_057676 245 protein NESP55 isoform NESP55

Identical Sequences to LMP006612 proteins

Reference Database Accession Length Protein Name
GI:7706589 DBBJ BAG37135.1 245 unnamed protein product [Homo sapiens]
GI:117938765 EMBL CAN13156.1 379 GNAS complex locus [Sus scrofa]
GI:117938759 GenBank EAW75462.1 1037 GNAS complex locus, isoform CRA_f [Homo sapiens]
GI:117938759 GenBank EAW75469.1 1037 GNAS complex locus, isoform CRA_f [Homo sapiens]
GI:117938762 GenBank ADQ32746.1 395 GNAS complex locus, partial [synthetic construct]
GI:7706589 GenBank AED39314.1 245 Sequence 1437 from patent US 7883858
GI:4504047 GenBank AFA68047.1 394 Sequence 308 from patent US 8101396
GI:18426900 GenBank AFA68075.1 380 Sequence 336 from patent US 8101396
GI:4504047 GenBank AFA68076.1 394 Sequence 337 from patent US 8101396
GI:117938765 GenBank AFJ70627.1 379 protein ALEX isoform g [Macaca mulatta]
GI:18426900 GenBank AFJ70628.1 380 protein ALEX GNASS [Macaca mulatta]
GI:117938762 GenBank JAB11847.1 395 protein GNAS isoform f [Callithrix jacchus]
GI:18426900 GenBank JAB11848.1 380 protein GNAS isoform GNASS [Callithrix jacchus]
GI:117938762 GenBank JAB11849.1 395 protein GNAS isoform f [Callithrix jacchus]
GI:4504047 GenBank AGY18218.1 394 Sequence 7 from patent US 8546536
GI:117938762 GenBank AGY18229.1 395 Sequence 18 from patent US 8546536
GI:117938765 GenBank AGY18230.1 379 Sequence 19 from patent US 8546536
GI:18426900 GenBank AGY18231.1 380 Sequence 20 from patent US 8546536
GI:4504047 GenBank AHD72166.1 394 Sequence 7664 from patent US 8586006
GI:7706589 GenBank AHD72167.1 245 Sequence 7665 from patent US 8586006
GI:18426900 GenBank AHD72169.1 380 Sequence 7667 from patent US 8586006
GI:117938762 GenBank AIC48848.1 395 GNAS, partial [synthetic construct]
GI:4504047 GenBank AIC63012.1 394 GNAS, partial [synthetic construct]
GI:117938762 RefSeq NP_001165455.1 395 guanine nucleotide-binding protein G(s) subunit alpha isoform f [Sus scrofa]
GI:117938765 RefSeq NP_001165456.1 379 guanine nucleotide-binding protein G(s) subunit alpha isoform g [Sus scrofa]
GI:7706589 RefSeq XP_003806229.1 245 PREDICTED: neuroendocrine secretory protein 55 [Pan paniscus]
GI:7706589 RefSeq XP_004062492.1 245 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas [Gorilla gorilla gorilla]
GI:7706589 RefSeq XP_004062493.1 245 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas [Gorilla gorilla gorilla]
GI:117938765 RefSeq XP_003277551.2 379 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoforms short [Nomascus leucogenys]
GI:4504047 RefSeq XP_007185299.1 394 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas-like isoform X1 [Balaenoptera acutorostrata scammoni]
GI:18426900 RefSeq XP_007185300.1 380 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas-like isoform X2 [Balaenoptera acutorostrata scammoni]
GI:117938765 RefSeq XP_007185301.1 379 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas-like isoform X3 [Balaenoptera acutorostrata scammoni]
GI:117938768 SwissProt P84996.1 626 RecName: Full=Protein ALEX; AltName: Full=Alternative gene product encoded by XL-exon [Homo sapiens]
GI:117938759 SwissProt Q5JWF2.2 1037 RecName: Full=Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas; AltName: Full=Adenylate cyclase-stimulating G alpha protein; AltName: Full=Extra large alphas protein; Short=XLalphas [Homo sapiens]

Related Sequences to LMP006612 proteins

Reference Database Accession Length Protein Name
GI:18426900 DBBJ BAE27636.1 380 unnamed protein product [Mus musculus]
GI:7706589 EMBL CAC32401.1 253 unnamed protein product, partial [Homo sapiens]
GI:117938768 EMBL CAN13151.1 564 GNAS complex locus [Sus scrofa]
GI:117938765 GenBank AAM12612.1 380 guanine nucleotide binding protein alpha s short [Homo sapiens]
GI:4504047 GenBank AAN93812.1 394 Sequence 106 from patent US 6462178
GI:4504047 GenBank AAP36911.1 395 Homo sapiens GNAS complex locus, partial [synthetic construct]
GI:18426900 GenBank AAH61496.1 380 GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus [Mus musculus]
GI:7706589 GenBank AAR45541.1 253 Sequence 2 from patent US 6608025
GI:117938765 GenBank AAH66923.1 379 GNAS complex locus [Homo sapiens]
GI:4504047 GenBank AAX29031.1 395 GNAS complex locus, partial [synthetic construct]
GI:4504047 GenBank AAX29032.1 395 GNAS complex locus, partial [synthetic construct]
GI:117938762 GenBank ABL20575.1 394 Sequence 13 from patent US 7125660
GI:117938762 GenBank EAW75460.1 394 GNAS complex locus, isoform CRA_d [Homo sapiens]
GI:117938765 GenBank ABP12379.1 380 Sequence 307 from patent US 7183105
GI:18426900 GenBank ACE86834.1 380 GNAS complex locus protein, partial [synthetic construct]
GI:4504047 GenBank ADP20528.2 394 stimulatory G-protein alpha subunit [Heterocephalus glaber]
GI:18426900 PDB 3SN6 380 Chain A, Crystal Structure Of The Beta2 Adrenergic Receptor-Gs Protein Complex
GI:18426900 RefSeq NP_001070978.1 380 protein GNAS isoform GNASS [Mus musculus]
GI:4504047 RefSeq NP_963910.1 394 protein GNAS isoform GNASL [Mus musculus]
GI:117938759 RefSeq XP_001083687.2 1046 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas isoform 5 [Macaca mulatta]
GI:117938759 RefSeq XP_002830517.1 1046 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas isoform X3 [Pongo abelii]
GI:117938768 RefSeq XP_003277552.1 648 PREDICTED: protein ALEX-like [Nomascus leucogenys]
GI:117938768 RefSeq XP_004014810.1 765 PREDICTED: protein ALEX-like [Ovis aries]
GI:117938762 RefSeq XP_005362840.1 395 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas-like isoform X4 [Microtus ochrogaster]
GI:117938762 RefSeq XP_005362841.1 395 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas-like isoform X5 [Microtus ochrogaster]
GI:117938765 RefSeq XP_005362845.1 379 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas-like isoform X9 [Microtus ochrogaster]
GI:117938768 RefSeq XP_005327149.1 650 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas isoform X5 [Ictidomys tridecemlineatus]
GI:117938768 RefSeq XP_005569514.1 647 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas isoform X7 [Macaca fascicularis]
GI:117938762 RefSeq XP_006498837.1 395 PREDICTED: protein ALEX isoform X1 [Mus musculus]
GI:117938765 RefSeq XP_006498839.1 379 PREDICTED: protein ALEX isoform X3 [Mus musculus]
GI:7706589 RefSeq XP_008010964.1 251 PREDICTED: neuroendocrine secretory protein 55 [Chlorocebus sabaeus]
GI:117938762 RefSeq XP_008139443.1 395 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoforms short isoform X4 [Eptesicus fuscus]
GI:18426900 RefSeq XP_008139445.1 380 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoforms short isoform X6 [Eptesicus fuscus]
GI:117938765 RefSeq XP_008139446.1 379 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoform X7 [Eptesicus fuscus]
GI:117938768 RefSeq XP_008949196.1 632 PREDICTED: protein ALEX [Pan paniscus]
GI:7706589 RefSeq XP_009214119.1 245 PREDICTED: neuroendocrine secretory protein 55 [Papio anubis]
GI:7706589 RefSeq XP_009214120.1 245 PREDICTED: neuroendocrine secretory protein 55 [Papio anubis]
GI:117938759 RefSeq XP_009435753.1 1059 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas isoform X1 [Pan troglodytes]
GI:117938759 RefSeq XP_009435754.1 1058 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas isoform X2 [Pan troglodytes]
GI:117938759 RefSeq XP_009435755.1 1044 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas isoform X3 [Pan troglodytes]
GI:117938759 RefSeq XP_009435756.1 1043 PREDICTED: guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas isoform X4 [Pan troglodytes]
GI:7706589 RefSeq XP_010363456.1 251 PREDICTED: neuroendocrine secretory protein 55 [Rhinopithecus roxellana]