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    GNAS GNAS complex locus [ Homo sapiens (human) ]

    Gene ID: 2778, updated on 26-Jul-2015
    Official Symbol
    GNASprovided by HGNC
    Official Full Name
    GNAS complex locusprovided by HGNC
    Primary source
    HGNC:HGNC:4392
    See related
    Ensembl:ENSG00000087460; HPRD:00761; MIM:139320; Vega:OTTHUMG00000033069
    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; 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]
    Orthologs
    See GNAS in Epigenomics, MapViewer
    Location:
    20q13.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 20 NC_000020.11 (58839740..58911195)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (57414756..57486250)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene GNAS antisense RNA 1 Neighboring gene microRNA 296 Neighboring gene microRNA 298 Neighboring gene uncharacterized LOC101927932 Neighboring gene negative elongation factor complex member C/D Neighboring gene cathepsin Z

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Cushing's syndrome
    MedGen: C1857451 OMIM: 219080 GeneReviews: Not available
    Compare labs
    McCune-Albright syndrome Compare labs
    Progressive osseous heteroplasia
    MedGen: C0334041 OMIM: 166350 GeneReviews: Not available
    Compare labs
    Pseudohypoparathyroidism type 1A
    MedGen: C0033806 OMIM: 103580 GeneReviews: Not available
    Compare labs
    Pseudohypoparathyroidism type 1B
    MedGen: C1864100 OMIM: 603233 GeneReviews: Not available
    Compare labs
    Pseudohypoparathyroidism type 1C
    MedGen: C2675910 OMIM: 612462 GeneReviews: Not available
    Compare labs
    Pseudopseudohypoparathyroidism
    MedGen: C0033835 OMIM: 612463 GeneReviews: Not available
    Compare labs
    Somatotroph adenoma Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-07-12)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-12)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
    NHGRI GWA Catalog
    Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
    NHGRI GWA Catalog
    Genome-wide association study of theta band event-related oscillations identifies serotonin receptor gene HTR7 influencing risk of alcohol dependence.
    NHGRI GWA Catalog
    Genomic association analysis of common variants influencing antihypertensive response to hydrochlorothiazide.
    NHGRI GWA Catalog
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    NHGRI GWA Catalog
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      Pathways in cancer
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    • Regulation of insulin secretion, organism-specific biosystem (from REACTOME)
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    • Regulation of lipolysis in adipocytes, organism-specific biosystem (from KEGG)
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    • Renin secretion, organism-specific biosystem (from KEGG)
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    • Renin secretion, conserved biosystem (from KEGG)
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    • Salivary secretion, organism-specific biosystem (from KEGG)
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    • Serotonergic synapse, organism-specific biosystem (from KEGG)
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    • Serotonin Receptor 4/6/7 and NR3C Signaling, organism-specific biosystem (from WikiPathways)
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    • Signal Transduction, organism-specific biosystem (from REACTOME)
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    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
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    • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
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    • TSH signaling pathway, organism-specific biosystem (from WikiPathways)
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    • Taste transduction, organism-specific biosystem (from KEGG)
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      Taste transduction, conserved biosystemAll taste pathways are proposed to converge on common elements that mediate a rise in intracellular Ca2+ followed by neurotransmitter release. Na+ salt depolarizes taste cells by passive influx of Na...
    • Thyroid hormone synthesis, organism-specific biosystem (from KEGG)
      Thyroid hormone synthesis, organism-specific biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
    • Thyroid hormone synthesis, conserved biosystem (from KEGG)
      Thyroid hormone synthesis, conserved biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
      Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
    • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
      Vascular smooth muscle contraction, conserved biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
    • Vasopressin regulates renal water homeostasis via Aquaporins, organism-specific biosystem (from REACTOME)
      Vasopressin regulates renal water homeostasis via Aquaporins, organism-specific biosystemIn the kidney water and solutes are passed out of the bloodstream and into the proximal tubule via the slit-like structure formed by nephrin in the glomerulus. Water is reabsorbed from the filtrate d...
    • Vasopressin-regulated water reabsorption, organism-specific biosystem (from KEGG)
      Vasopressin-regulated water reabsorption, organism-specific biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
    • Vasopressin-regulated water reabsorption, conserved biosystem (from KEGG)
      Vasopressin-regulated water reabsorption, conserved biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
    • Vibrio cholerae infection, organism-specific biosystem (from KEGG)
      Vibrio cholerae infection, organism-specific biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
    • Vibrio cholerae infection, conserved biosystem (from KEGG)
      Vibrio cholerae infection, conserved biosystemCholera toxin (CTX) is one of the main virulence factors of Vibrio cholerae. Once secreted, CTX B-chain (CTXB) binds to ganglioside GM1 on the surface of the host's cells. After binding takes place, ...
    • cAMP signaling, organism-specific biosystem (from KEGG)
      cAMP signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
    • cAMP signaling, conserved biosystem (from KEGG)
      cAMP signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
    • cAMP signaling pathway, organism-specific biosystem (from KEGG)
      cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
    • cAMP signaling pathway, conserved biosystem (from KEGG)
      cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC33735

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    D1 dopamine receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    G-protein beta/gamma-subunit complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    GTPase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    adenylate cyclase activity TAS
    Traceable Author Statement
    more info
     
    beta-2 adrenergic receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    corticotropin-releasing hormone receptor 1 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    insulin-like growth factor receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ionotropic glutamate receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    molecular_function ND
    No biological Data available
    more info
     
    mu-type opioid receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signal transducer activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    signal transducer activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA methylation IEA
    Inferred from Electronic Annotation
    more info
     
    activation of adenylate cyclase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    adenylate cyclase-activating G-protein coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    adenylate cyclase-activating G-protein coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    adenylate cyclase-activating adrenergic receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    adenylate cyclase-activating dopamine receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    adenylate cyclase-activating dopamine receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    bone development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bone development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cAMP biosynthetic process TAS
    Traceable Author Statement
    more info
     
    cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to catecholamine stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to glucagon stimulus TAS
    Traceable Author Statement
    more info
     
    cellular response to prostaglandin E stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cognition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cognition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    developmental growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    developmental growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic cranial skeleton morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    endochondral ossification IEA
    Inferred from Electronic Annotation
    more info
     
    energy reserve metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    energy reserve metabolic process TAS
    Traceable Author Statement
    more info
     
    female pregnancy NAS
    Non-traceable Author Statement
    more info
    PubMed 
    genetic imprinting IEA
    Inferred from Electronic Annotation
    more info
     
    hair follicle placode formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hair follicle placode formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellular transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of multicellular organism growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    platelet aggregation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet aggregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cAMP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cAMP-mediated signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    post-embryonic body morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    protein secretion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of insulin secretion TAS
    Traceable Author Statement
    more info
     
    regulation of signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    renal water homeostasis TAS
    Traceable Author Statement
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to parathyroid hormone IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sensory perception of chemical stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sensory perception of smell TAS
    Traceable Author Statement
    more info
    PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    tissue homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    water transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    heterotrimeric G-protein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    heterotrimeric G-protein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heterotrimeric G-protein complex TAS
    Traceable Author Statement
    more info
    PubMed 
    intrinsic component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    ruffle IEA
    Inferred from Electronic Annotation
    more info
     
    trans-Golgi network membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transport vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    protein ALEX; protein GNAS; protein SCG6 (secretogranin VI)
    Names
    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
    guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas
    neuroendocrine secretory protein
    secretogranin VI

    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

    1. NG_016194.1 RefSeqGene

      Range
      4979..76457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000516.5NP_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, AL121917, BQ029639, BQ230306, BU857975
      Consensus CDS
      CCDS13472.1
      UniProtKB/Swiss-Prot
      P63092
      Related
      ENSP00000360126, OTTHUMP00000031740, ENST00000371085, OTTHUMT00000080431
      Conserved Domains (2) summary
      cd00066
      Location:41388
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
      smart00275
      Location:20391
      G_alpha; G protein alpha subunit
    2. NM_001077488.3NP_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, AL121917, BC089157, BQ029639, BQ230306, M14631
      Consensus CDS
      CCDS46623.1
      UniProtKB/Swiss-Prot
      P63092
      Related
      ENSP00000346328, OTTHUMP00000031743, ENST00000354359, OTTHUMT00000080434
      Conserved Domains (2) summary
      cd00066
      Location:41389
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
      smart00275
      Location:20392
      G_alpha; G protein alpha subunit
    3. NM_001077489.3NP_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, AL121917, BC066923, BC089157, BQ029639, BQ230306
      Consensus CDS
      CCDS42892.1
      UniProtKB/Swiss-Prot
      P63092
      Related
      ENSP00000265620, OTTHUMP00000031756, ENST00000265620, OTTHUMT00000080451
      Conserved Domains (2) summary
      cd00066
      Location:41373
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
      smart00275
      Location:20376
      G_alpha; G protein alpha subunit
    4. NM_001077490.2NP_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 isoforms XLas and Alex, respectively. This RefSeq represents Alex (also known as alexX), which has no similarity to other isoforms encoded by this gene. It interacts with isoform XLas, and their interaction is essential for G-protein signaling in neuroendocrine cells.
      Source sequence(s)
      AL132655, BQ029639, BQ230306, X04408
      UniProtKB/Swiss-Prot
      P63092
      UniProtKB/Swiss-Prot
      P84996
      Conserved Domains (1) summary
      pfam10846
      Location:177364
      DUF2722; Protein of unknown function (DUF2722)
    5. NM_001309840.1NP_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, BQ029639, BQ230306, CN403086, X04408, X56009
      Conserved Domains (2) summary
      cd00066
      Location:1329
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
      pfam00503
      Location:1324
      G-alpha; G-protein alpha subunit
    6. NM_001309842.1NP_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, AL121917, BC089157, BF800576, BF879848, CB530031, DB483472
    7. NM_001309861.1NP_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, BQ029639, BQ230306, CN273438
      Conserved Domains (2) summary
      cd00066
      Location:1329
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
      pfam00503
      Location:1324
      G-alpha; G-protein alpha subunit
    8. NM_001309883.1NP_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 isoform Alex (also known as alexX), which has no similarity to other isoforms encoded by this gene. It interacts with isoform XLas, and their interaction is essential for G-protein signaling in neuroendocrine cells. Variants 2 and 12 encode the same isoform (Alex).
      Source sequence(s)
      AA948160, AJ224867, AL132655, BF800576, BF879848
      Conserved Domains (1) summary
      pfam10846
      Location:177364
      DUF2722; Protein of unknown function (DUF2722)
    9. NM_016592.3NP_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, BC036081, BQ029639, BQ230306
      Consensus CDS
      CCDS13471.1
      UniProtKB/Swiss-Prot
      O95467
      Related
      ENSP00000360115, OTTHUMP00000196027, ENST00000371075, OTTHUMT00000080430
      Conserved Domains (1) summary
      pfam06390
      Location:1245
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
    10. NM_080425.3NP_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, BQ230306, CN295544, X04408
      Consensus CDS
      CCDS46622.1
      UniProtKB/Swiss-Prot
      P63092
      UniProtKB/Swiss-Prot
      Q5JWF2
      Related
      ENSP00000360141, OTTHUMP00000031727, ENST00000371100, OTTHUMT00000080417
      Conserved Domains (2) summary
      cd00066
      Location:6841031
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
      smart00275
      Location:6631034
      G_alpha; G protein alpha subunit
    11. NM_080426.3NP_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, AL121917, BC089157, BQ029639, BQ230306
      Consensus CDS
      CCDS46624.1
      UniProtKB/Swiss-Prot
      P63092
      Related
      ENSP00000360136, OTTHUMP00000031742, ENST00000371095, OTTHUMT00000080433
      Conserved Domains (2) summary
      cd00066
      Location:41374
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
      smart00275
      Location:20377
      G_alpha; G protein alpha subunit

    RNA

    1. NR_132272.1 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, BF800576, BF879848, HY141824
    2. 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

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p2 Primary Assembly

      Range
      58839740..58911195
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      57316685..57387667
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)