GNAS GNAS complex locus [Homo sapiens (human)] - Gene

Summary

Official Symbol: GNASprovided by HGNC
Official Full Name: GNAS complex locusprovided by HGNC
Primary source: HGNC:HGNC:4392
See related: Ensembl:ENSG00000087460 MIM:139320; AllianceGenome:HGNC:4392
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AHO; GSA; GSP; POH; GPSA; NESP; SCG6; SgVI; GNAS1; PITA3; AIMAH1; C20orf45
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]
Expression: Ubiquitous expression in thyroid (RPKM 405.2), brain (RPKM 137.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.32

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (58839748..58911192)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (60622888..60694319)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (57414803..57486247)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular mechanism of the endothelin receptor type B interactions with Gs, Gi, and Gq.
Title: Molecular mechanism of the endothelin receptor type B interactions with Gs, Gi, and Gq.
GNAS, not a Highly Mutated Gene, Has Prognostic Significance and Carcinogenic Effects in Osteosarcoma.
Title: GNAS, not a Highly Mutated Gene, Has Prognostic Significance and Carcinogenic Effects in Osteosarcoma.
Time-resolved cryo-EM of G-protein activation by a GPCR.
Title: Time-resolved cryo-EM of G-protein activation by a GPCR.
Oncogenic GNAS Uses PKA-Dependent and Independent Mechanisms to Induce Cell Proliferation in Human Pancreatic Ductal and Acinar Organoids.
Title: Oncogenic GNAS Uses PKA-Dependent and Independent Mechanisms to Induce Cell Proliferation in Human Pancreatic Ductal and Acinar Organoids.
Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A.
Title: Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A.
GNAS mutation inhibits growth and induces phosphodiesterase 4D expression in colorectal cancer cell lines.
Title: GNAS mutation inhibits growth and induces phosphodiesterase 4D expression in colorectal cancer cell lines.
Gsalpha Regulates Macrophage Foam Cell Formation During Atherosclerosis.
Title: Gsα Regulates Macrophage Foam Cell Formation During Atherosclerosis.
GNAS AS2 methylation status enables mechanism-based categorization of pseudohypoparathyroidism type 1B.
Title: GNAS AS2 methylation status enables mechanism-based categorization of pseudohypoparathyroidism type 1B.
DNA methylation landscape reveals GNAS as a decitabine-responsive marker in patients with acute myeloid leukemia.
Title: DNA methylation landscape reveals GNAS as a decitabine-responsive marker in patients with acute myeloid leukemia.
The mystery of transient pregnancy-induced cushing's syndrome: a case report and literature review highlighting GNAS somatic mutations and LHCGR overexpression.
Title: The mystery of transient pregnancy-induced cushing's syndrome: a case report and literature review highlighting GNAS somatic mutations and LHCGR overexpression.

Submit: New GeneRIF Correction See all GeneRIFs (407)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
ACTH-independent macronodular adrenal hyperplasia 1 MedGen: C1857451 OMIM: 219080 GeneReviews: Not available	Compare labs
Fibrous dysplasia/McCune-Albright syndrome MedGen: C5680283 GeneReviews: Fibrous Dysplasia / McCune-Albright Syndrome	not available
McCune-Albright syndrome MedGen: C0242292 OMIM: 174800 GeneReviews: Fibrous Dysplasia / McCune-Albright Syndrome	Compare labs
Pituitary adenoma 3, multiple types MedGen: C4540135 OMIM: 617686 GeneReviews: Not available	Compare labs
Progressive osseous heteroplasia MedGen: C0334041 OMIM: 166350 GeneReviews: Disorders of GNAS Inactivation	Compare labs
Pseudohypoparathyroidism type 1B MedGen: C1864100 OMIM: 603233 GeneReviews: Disorders of GNAS Inactivation	Compare labs
Pseudohypoparathyroidism type 1C MedGen: C2932716 OMIM: 612462 GeneReviews: Disorders of GNAS Inactivation	Compare labs
Pseudohypoparathyroidism type I A MedGen: C3494506 OMIM: 103580 GeneReviews: Disorders of GNAS Inactivation	Compare labs
Pseudopseudohypoparathyroidism MedGen: C0033835 OMIM: 612463 GeneReviews: Disorders of GNAS Inactivation	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-01-12) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-01-12) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of theta band event-related oscillations identifies serotonin receptor gene HTR7 influencing risk of alcohol dependence. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomic association analysis of common variants influencing antihypertensive response to hydrochlorothiazide. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:393268 (e-PCR)
- UniSTS:157191

WI-18315 (e-PCR)
- UniSTS:36377

GNAS1 (e-PCR)
- UniSTS:253722

RH47664 (e-PCR)
- UniSTS:37659

PMC182207P1 (e-PCR)
- UniSTS:271678

STS-M21142 (e-PCR)
- UniSTS:32343

PMC301417P1 (e-PCR)
- UniSTS:272476

PMC301417P2 (e-PCR)
- UniSTS:272477

D20S459 (e-PCR)
- UniSTS:4202

RH75699 (e-PCR)
- UniSTS:85118

WI-11711 (e-PCR)
- UniSTS:14977

D13S1553 (e-PCR)
- UniSTS:473482

SHGC-60147 (e-PCR)
- UniSTS:18828

Gnas (e-PCR), detects polymorphism
- UniSTS:186518

SHGC-59923 (e-PCR)
- UniSTS:54725

GDB:203981 (e-PCR)
- UniSTS:156107

NoName (e-PCR)
- UniSTS:488140

RH98861 (e-PCR)
- UniSTS:84942

SHGC-58255 (e-PCR)
- UniSTS:80093

MARC_5561-5562:1031675650:1 (e-PCR)
- UniSTS:269538

GDB:180724 (e-PCR)
- UniSTS:155110

PMC22380P2 (e-PCR)
- UniSTS:272105

D20S541E (e-PCR)
- UniSTS:150765

RH68035 (e-PCR)
- UniSTS:34034

RH11717 (e-PCR)
- UniSTS:46841

RH93711 (e-PCR)
- UniSTS:88575

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D1 dopamine receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables D1 dopamine receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables G protein activity	IDA Inferred from Direct Assay more info	PubMed
enables G protein activity	TAS Traceable Author Statement more info
enables G-protein beta/gamma-subunit complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables G-protein beta/gamma-subunit complex binding	IEA Inferred from Electronic Annotation more info
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	TAS Traceable Author Statement more info	PubMed
enables adenylate cyclase activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables adenylate cyclase activator activity	TAS Traceable Author Statement more info
enables adenylate cyclase regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables beta-2 adrenergic receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables corticotropin-releasing hormone receptor 1 binding	IBA Inferred from Biological aspect of Ancestor more info
enables insulin-like growth factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables ionotropic glutamate receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables mu-type opioid receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info
involved_in activation of adenylate cyclase activity	TAS Traceable Author Statement more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adenylate cyclase-activating adrenergic receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adenylate cyclase-activating dopamine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-activating dopamine receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in adenylate cyclase-activating serotonin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in bone development	IDA Inferred from Direct Assay more info	PubMed
involved_in bone development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to catecholamine stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to glucagon stimulus	TAS Traceable Author Statement more info
involved_in cellular response to prostaglandin E stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cognition	IDA Inferred from Direct Assay more info	PubMed
involved_in cognition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in developmental growth	IDA Inferred from Direct Assay more info	PubMed
involved_in developmental growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in female pregnancy	NAS Non-traceable Author Statement more info	PubMed
involved_in hair follicle placode formation	IDA Inferred from Direct Assay more info	PubMed
involved_in hair follicle placode formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular transport	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of inflammatory response to antigenic stimulus	TAS Traceable Author Statement more info
involved_in negative regulation of multicellular organism growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in platelet aggregation	IDA Inferred from Direct Assay more info	PubMed
involved_in platelet aggregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in protein secretion	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of insulin secretion	TAS Traceable Author Statement more info
involved_in regulation of signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in renal water homeostasis	TAS Traceable Author Statement more info
involved_in response to parathyroid hormone	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to prostaglandin E	IDA Inferred from Direct Assay more info	PubMed
involved_in sensory perception of chemical stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory perception of smell	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
part_of heterotrimeric G-protein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of heterotrimeric G-protein complex	ISS Inferred from Sequence or Structural Similarity more info
part_of heterotrimeric G-protein complex	TAS Traceable Author Statement more info	PubMed
located_in membrane	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
located_in ruffle	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network membrane	IDA Inferred from Direct Assay more info	PubMed
located_in transport vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein ALEX; protein GNAS; protein SCG6 (secretogranin VI)

Names: G protein subunit alpha S; adenylate cyclase-stimulating G alpha protein; alternative gene product encoded by XL-exon; extra large alphas protein; guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1; guanine nucleotide regulatory protein; secretogranin VI

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016194.2 RefSeqGene

Range

5009..76453

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000516.7 → NP_000507.1 protein GNAS isoform GNASL

See identical proteins and their annotated locations for NP_000507.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) is biallelically expressed and encodes guanine nucleotide binding protein alpha s long (GNASL), also known as alpha-S2, a form of the G-protein alpha subunit.

Source sequence(s)

AF105253, AF493897, BC008855, BU857975

Consensus CDS

CCDS13472.1

UniProtKB/Swiss-Prot

A6NI00, E1P5G5, P04895, P63092, Q12927, Q14433, Q32P26, Q5JWD2, Q5JWD4, Q5JWD5, Q6NR75, Q6NXS0, Q8TBC0, Q96H70

UniProtKB/TrEMBL

A0A0S2Z3H8, Q5FWY2

Related

ENSP00000360126.3, ENST00000371085.8

Conserved Domains (1) summary

cd00066
Location:41 → 388

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
NM_001077488.5 → NP_001070956.1 protein GNAS isoform f

See identical proteins and their annotated locations for NP_001070956.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) is biallelically expressed and uses an alternate in frame splice site, compared to variant 1. It encodes isoform f which has an additional amino acid in the internal region compared to isoform GNASL.

Source sequence(s)

AF105253, AF493897, BC008855, BC089157, M14631

Consensus CDS

CCDS46623.1

UniProtKB/TrEMBL

Q5FWY2

Related

ENSP00000346328.7, ENST00000354359.12

Conserved Domains (1) summary

cd00066
Location:41 → 389

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
NM_001077489.4 → NP_001070957.1 protein GNAS isoform g

See identical proteins and their annotated locations for NP_001070957.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) is biallelically expressed and lacks an alternate in-frame coding exon, compared to variant 1. It encodes isoform g, which lacks an internal segment, compared to isoform GNASL.

Source sequence(s)

AF105253, AF493897, BC066923, BC089157

Consensus CDS

CCDS42892.1

UniProtKB/TrEMBL

Q5FWY2

Related

ENSP00000265620.7, ENST00000265620.11

Conserved Domains (1) summary

cd00066
Location:41 → 373

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
NM_001077490.3 → NP_001070958.1 protein ALEX isoform Alex

See identical proteins and their annotated locations for NP_001070958.1

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as GNASXL), is paternally expressed and includes an alternate 5' exon, compared to variant 1. This variant includes two overlapping ORFs encoding XLas and Alex, respectively. This RefSeq represents Alex (also known as alexX), which has no similarity to other proteins encoded by this gene. It interacts with XLas, and their interaction is essential for G-protein signaling in neuroendocrine cells.

Source sequence(s)

AL132655, BQ029639, X04408

UniProtKB/Swiss-Prot

A2A2S4, P84996

UniProtKB/TrEMBL

A0A8I5F5B5

Conserved Domains (1) summary

PHA03247
Location:125 → 345

PHA03247; large tegument protein UL36; Provisional
NM_001309840.2 → NP_001296769.1 protein ALEX isoform h

See identical proteins and their annotated locations for NP_001296769.1

Status: REVIEWED

Description

Transcript Variant: This variant (9) is paternally expressed, contains an alternate 5' terminal exon (A/B or Exon 1A) and uses a downstream start codon, compared to variant 1. Variants 9 and 11 encode the same isoform h (described in PMID:21713996), which has a shorter N-terminus, compared to isoform GNASL.

Source sequence(s)

AL537118, CN403086, X04408, X56009

Consensus CDS

CCDS93068.1

UniProtKB/TrEMBL

A0A590UJ22, A0A590UJ58, A0A590UJI6, A0A590UJQ2, A0A590UJY8, A0A9K3Y787, B0AZR9, Q5FWY2, S4R3E3, S4R3V9

Related

ENSP00000499660.1, ENST00000477931.5

Conserved Domains (1) summary

cd00066
Location:1 → 329

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
NM_001309842.2 → NP_001296771.1 protein ALEX isoform i

Status: REVIEWED

Description

Transcript Variant: This variant (10) contains an alternate 3' exon structure, compared to variant 1. It encodes isoform i, which has a shorter and distinct C-terminus, compared to isoform GNASL.

Source sequence(s)

AA948160, BC089157, BF800576, BF879848, CB530031, DB483472

Consensus CDS

CCDS82633.1

UniProtKB/TrEMBL

A2A2R6, Q5JWD1

Related

ENSP00000360122.1, ENST00000371081.5

Conserved Domains (1) summary

smart00275
Location:20 → 71

G_alpha; G protein alpha subunit
NM_001309861.2 → NP_001296790.1 protein ALEX isoform h

See identical proteins and their annotated locations for NP_001296790.1

Status: REVIEWED

Description

Transcript Variant: This variant (11) contains an alternate 5' terminal exon, compared to variant 1. Variants 9 and 11 encode the same isoform h (described in PMID:21713996), which has a shorter N-terminus, compared to isoform GNASL.

Source sequence(s)

AF105253, AK315874, CN273438

Consensus CDS

CCDS93068.1

UniProtKB/TrEMBL

A0A590UJ22, A0A590UJ58, A0A590UJI6, A0A590UJQ2, A0A590UJY8, A0A9K3Y787, B0AZR9, Q5FWY2, S4R3E3, S4R3V9

Related

ENSP00000499673.2, ENST00000472183.6

Conserved Domains (1) summary

cd00066
Location:1 → 329

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
NM_001309883.1 → NP_001296812.1 protein ALEX isoform Alex

See identical proteins and their annotated locations for NP_001296812.1

Status: REVIEWED

Description

Transcript Variant: This variant (12) contains an alternate 5' exon structure compared to variant 1. It encodes the protein Alex (also known as alexX), which has no similarity to other proteins encoded by this gene. It interacts with XLas, and their interaction is essential for G-protein signaling in neuroendocrine cells. Variants 2 and 12 encode the same protein (Alex).

Source sequence(s)

AA948160, AJ224867, AL132655, BF800576, BF879848

UniProtKB/Swiss-Prot

A2A2S4, P84996

UniProtKB/TrEMBL

A0A8I5F5B5

Related

ENSP00000302237.4, ENST00000306120.4

Conserved Domains (1) summary

PHA03247
Location:125 → 345

PHA03247; large tegument protein UL36; Provisional
NM_001410912.1 → NP_001397841.1 protein ALEX isoform j

Status: REVIEWED

Source sequence(s)

AL109840, AL121917, AL132655

Consensus CDS

CCDS93063.1

UniProtKB/TrEMBL

A0A0A0MR13, Q5FWY2

Related

ENSP00000304472.12, ENST00000306090.12
NM_001410913.1 → NP_001397842.1 protein ALEX isoform k

Status: REVIEWED

Source sequence(s)

AL109840, AL121917, AL132655

Consensus CDS

CCDS93066.1

UniProtKB/TrEMBL

Q5JWE9

Related

ENSP00000265621.6, ENST00000349036.9
NM_016592.5 → NP_057676.1 protein SCG6 (secretogranin VI) isoform SCG6

See identical proteins and their annotated locations for NP_057676.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) is maternally expressed and encodes secretogranin VI (SCG6, also known as NESP55), which localizes to large secretory vesicles of endocrine cells and neurons. Its coding region is within the 5'-most exon and does not overlap the coding regions used by other transcripts; thus SCG6 has no similarity to isoforms of the G-protein alpha subunit. This variant has an antisense transcript, GNAS-AS1.

Source sequence(s)

AF105253, AL132655, BC008855, BC036081

Consensus CDS

CCDS13471.1

UniProtKB/Swiss-Prot

B2RB88, E1P5G2, O95417, O95467

Related

ENSP00000360115.3, ENST00000371075.7

Conserved Domains (1) summary

pfam06390
Location:1 → 245

NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
NM_080425.4 → NP_536350.2 protein GNAS isoform XLas

See identical proteins and their annotated locations for NP_536350.2

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as GNASXL) is paternally expressed and includes an alternate 5' exon, compared to variant 1. This variant includes two overlapping open reading frames encoding isoforms XLas and Alex, respectively. This RefSeq represents isoform XLas (also known as alpha sXXL), which is a neuroendocrine-specific G-protein alpha subunit. The encoded isoform has a distinct and longer N-terminus, compared to isoform GNASL. Variants 2 and 12 both encode the same isoform (Alex).

Source sequence(s)

AL132655, BQ029639, CN295544, X04408

Consensus CDS

CCDS46622.1

UniProtKB/Swiss-Prot

A2A2S3, E1P5G3, O75684, O75685, Q5JW67, Q5JWF1, Q5JWF2, Q9NY42

Related

ENSP00000360141.3, ENST00000371100.9

Conserved Domains (2) summary

cd00066
Location:684 → 1031

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

smart00275
Location:663 → 1034

G_alpha; G protein alpha subunit
NM_080426.4 → NP_536351.1 protein GNAS isoform GNASS

See identical proteins and their annotated locations for NP_536351.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) is biallelically expressed. It lacks an internal exon and uses an alternate splice site, compared to variant 1. It encodes isoform GNASS, also known as alpha-S1, which differs in an internal region and has identical N- and C-termini, compared to isoform GNASL.

Source sequence(s)

AF105253, AF493897, BC089157

Consensus CDS

CCDS46624.1

UniProtKB/TrEMBL

A0A0S2Z3S5, Q5FWY2

Related

ENSP00000360136.3, ENST00000371095.7

Conserved Domains (1) summary

cd00066
Location:41 → 374

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

RNA

NR_132272.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (13) contains alternate 5' and 3' terminal exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AA948160, AL121917, BF800576, BF879848, HY141824
NR_132273.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (14) contains alternate 5' and 3' terminal exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AA948160, AL121917, AV751821, BF800576, BF879848, BM894355

Related

ENST00000464960.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

58839748..58911192

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440113.1 → XP_047296069.1 protein ALEX isoform X3

UniProtKB/TrEMBL

Q5FWY2
XM_017027815.2 → XP_016883304.1 protein ALEX isoform X4

UniProtKB/TrEMBL

Q5FWY2

Conserved Domains (1) summary

cd00066
Location:5 → 341

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
XM_047440114.1 → XP_047296070.1 protein GNAS isoform X5

UniProtKB/TrEMBL

A0A590UJB7, A0A590UJQ9, A0A590UJR6, Q5FWY2

Related

ENSP00000499353.2, ENST00000663479.2
XM_047440122.1 → XP_047296078.1 protein GNAS isoform X8

UniProtKB/TrEMBL

A0A590UJF0, A0A590UJG5, A0A590UKA4, Q5FWY2

Related

ENSP00000499794.2, ENST00000482112.6
XM_017027812.3 → XP_016883301.1 protein GNAS isoform X1

UniProtKB/TrEMBL

A0A7I2V5R6

Related

ENSP00000504675.2, ENST00000676826.2
XM_017027813.3 → XP_016883302.1 protein ALEX isoform X2

UniProtKB/Swiss-Prot

Q5JWF2

Related

ENSP00000360143.4, ENST00000371102.8
XM_047440121.1 → XP_047296077.1 protein GNAS isoform X8

UniProtKB/TrEMBL

A0A590UJF0, A0A590UJG5, A0A590UKA4, Q5FWY2
XM_047440125.1 → XP_047296081.1 protein GNAS isoform X5

UniProtKB/TrEMBL

A0A590UJB7, A0A590UJQ9, A0A590UJR6, Q5FWY2

Related

ENSP00000499552.2, ENST00000470512.6
XM_047440118.1 → XP_047296074.1 protein GNAS isoform X7

UniProtKB/TrEMBL

A0A590UJA5, A0A590UJB0, A0A590UJJ0, A0A590UK28, A0A590UKA1, A0A590UKA9, A0A590UKB4, Q5FWY2

Related

ENSP00000499762.2, ENST00000478585.6
XM_017027817.2 → XP_016883306.1 protein GNAS isoform X8

UniProtKB/TrEMBL

A0A590UJF0, A0A590UJG5, A0A590UKA4, Q5FWY2

Related

ENSP00000499392.1, ENST00000480975.5

Conserved Domains (1) summary

cd00066
Location:1 → 314

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
XM_047440117.1 → XP_047296073.1 protein GNAS isoform X5

UniProtKB/TrEMBL

A0A590UJB7, A0A590UJQ9, A0A590UJR6, Q5FWY2
XM_024451875.2 → XP_024307643.1 protein GNAS isoform X6

UniProtKB/TrEMBL

A0A590UJ22, A0A590UJ58, A0A590UJI6, A0A590UJQ2, A0A590UJY8, A0A9K3Y787, B0AZR9, Q5FWY2, S4R3E3, S4R3V9

Related

ENSP00000474219.2, ENST00000604005.6

Conserved Domains (1) summary

cd00066
Location:1 → 329

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
XM_047440120.1 → XP_047296076.1 protein GNAS isoform X7

UniProtKB/TrEMBL

A0A590UJA5, A0A590UJB0, A0A590UJJ0, A0A590UK28, A0A590UKA1, A0A590UKA9, A0A590UKB4, Q5FWY2
XM_017027819.2 → XP_016883308.1 protein GNAS isoform X8

UniProtKB/TrEMBL

A0A590UJF0, A0A590UJG5, A0A590UKA4, Q5FWY2

Conserved Domains (1) summary

cd00066
Location:1 → 314

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
XM_047440116.1 → XP_047296072.1 protein GNAS isoform X5

UniProtKB/TrEMBL

A0A590UJB7, A0A590UJQ9, A0A590UJR6, Q5FWY2
XM_047440123.1 → XP_047296079.1 protein GNAS isoform X8

UniProtKB/TrEMBL

A0A590UJF0, A0A590UJG5, A0A590UKA4, Q5FWY2
XM_047440115.1 → XP_047296071.1 protein GNAS isoform X5

UniProtKB/TrEMBL

A0A590UJB7, A0A590UJQ9, A0A590UJR6, Q5FWY2
XM_024451873.2 → XP_024307641.1 protein GNAS isoform X6

UniProtKB/TrEMBL

A0A590UJ22, A0A590UJ58, A0A590UJI6, A0A590UJQ2, A0A590UJY8, A0A9K3Y787, B0AZR9, Q5FWY2, S4R3E3, S4R3V9

Related

ENSP00000499435.2, ENST00000488652.6

Conserved Domains (1) summary

cd00066
Location:1 → 329

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
XM_047440119.1 → XP_047296075.1 protein GNAS isoform X7

UniProtKB/TrEMBL

A0A590UJA5, A0A590UJB0, A0A590UJJ0, A0A590UK28, A0A590UKA1, A0A590UKA9, A0A590UKB4, Q5FWY2

Related

ENSP00000499443.2, ENST00000492907.6
XM_017027818.3 → XP_016883307.1 protein GNAS isoform X8

UniProtKB/TrEMBL

A0A590UJF0, A0A590UJG5, A0A590UKA4, Q5FWY2

Related

ENSP00000499409.2, ENST00000476935.6

Conserved Domains (1) summary

cd00066
Location:1 → 314

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
XM_017027820.1 → XP_016883309.1 protein GNAS isoform X9

UniProtKB/TrEMBL

Q5FWY2

Conserved Domains (1) summary

cd00066
Location:11 → 314

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
XM_047440124.1 → XP_047296080.1 protein GNAS isoform X9

UniProtKB/TrEMBL

Q5FWY2

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

60622888..60694319

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054323370.1 → XP_054179345.1 protein ALEX isoform X3

UniProtKB/TrEMBL

Q5FWY2
XM_054323371.1 → XP_054179346.1 protein ALEX isoform X4

UniProtKB/TrEMBL

Q5FWY2
XM_054323372.1 → XP_054179347.1 protein GNAS isoform X5

UniProtKB/TrEMBL

A0A590UJB7, A0A590UJQ9, A0A590UJR6, Q5FWY2
XM_054323378.1 → XP_054179353.1 protein GNAS isoform X8

UniProtKB/TrEMBL

A0A590UJF0, A0A590UJG5, A0A590UKA4, Q5FWY2
XM_054323365.1 → XP_054179340.1 protein GNAS isoform X1

UniProtKB/TrEMBL

A0A7I2V5R6
XM_054323366.1 → XP_054179341.1 protein ALEX isoform X2
XM_054323367.1 → XP_054179342.1 protein GNAS isoform X5

UniProtKB/TrEMBL

A0A590UJB7, A0A590UJQ9, A0A590UJR6, Q5FWY2
XM_054323368.1 → XP_054179343.1 protein GNAS isoform X7

UniProtKB/TrEMBL

A0A590UJA5, A0A590UJB0, A0A590UJJ0, A0A590UK28, A0A590UKA1, A0A590UKA9, A0A590UKB4, Q5FWY2
XM_054323369.1 → XP_054179344.1 protein GNAS isoform X8

UniProtKB/TrEMBL

A0A590UJF0, A0A590UJG5, A0A590UKA4, Q5FWY2
XM_054323373.1 → XP_054179348.1 protein GNAS isoform X5

UniProtKB/TrEMBL

A0A590UJB7, A0A590UJQ9, A0A590UJR6, Q5FWY2
XM_054323374.1 → XP_054179349.1 protein GNAS isoform X6

UniProtKB/TrEMBL

A0A590UJ22, A0A590UJ58, A0A590UJI6, A0A590UJQ2, A0A590UJY8, A0A9K3Y787, B0AZR9, Q5FWY2, S4R3E3, S4R3V9
XM_054323375.1 → XP_054179350.1 protein GNAS isoform X7

UniProtKB/TrEMBL

A0A590UJA5, A0A590UJB0, A0A590UJJ0, A0A590UK28, A0A590UKA1, A0A590UKA9, A0A590UKB4, Q5FWY2
XM_054323376.1 → XP_054179351.1 protein GNAS isoform X8

UniProtKB/TrEMBL

A0A590UJF0, A0A590UJG5, A0A590UKA4, Q5FWY2
XM_054323377.1 → XP_054179352.1 protein GNAS isoform X9

UniProtKB/TrEMBL

Q5FWY2

Nucleotide		Protein
Heading	Accession and Version	Protein

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
O95467.1	GenPept	UniProtKB/Swiss-Prot:O95467
P63092.1	GenPept	UniProtKB/Swiss-Prot:P63092
P84996.1	GenPept	UniProtKB/Swiss-Prot:P84996
Q5JWF2.2	GenPept	UniProtKB/Swiss-Prot:Q5JWF2