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    Gnas GNAS complex locus [ Mus musculus (house mouse) ]

    Gene ID: 14683, updated on 3-Dec-2024

    Summary

    Official Symbol
    Gnasprovided by MGI
    Official Full Name
    GNAS complex locusprovided by MGI
    Primary source
    MGI:MGI:95777
    See related
    Ensembl:ENSMUSG00000027523 AllianceGenome:MGI:95777
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    P1; P2; P3; GSP; Gsa; POH; GPSA; Nesp; SCG6; Gnas1; Nespl; PHP1A; PHP1B; Gnasxl; Nesp55; Oedsml; Galphas; Oed-Sml; Gs-alpha; 5530400H20Rik; A930027G11Rik; C130027O20Rik
    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, which is commonly found in imprinted genes and correlates with transcript expression. This gene has an antisense transcript. One of the transcripts produced from this locus, and the antisense transcript, are both 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. Additional transcript variants have been found for this gene, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2015]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 151.3), cerebellum adult (RPKM 99.7) and 28 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Gnas in Genome Data Viewer
    Location:
    2 H4; 2 97.89 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (174126113..174188537)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (174284320..174346744)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene microRNA 296 Neighboring gene microRNA 298 Neighboring gene STARR-seq mESC enhancer starr_06635 Neighboring gene GNAS antisense RNA 1 Neighboring gene STARR-seq mESC enhancer starr_06637 Neighboring gene STARR-seq mESC enhancer starr_06638 Neighboring gene STARR-positive B cell enhancer ABC_E10168 Neighboring gene predicted gene, 30189 Neighboring gene STARR-positive B cell enhancer ABC_E1611 Neighboring gene STARR-positive B cell enhancer ABC_E1612 Neighboring gene negative elongation factor complex member C/D, Th1l Neighboring gene STARR-positive B cell enhancer ABC_E6030 Neighboring gene ribosomal protein L30, pseudogene 5 Neighboring gene cathepsin Z

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC118029

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables D1 dopamine receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables D1 dopamine receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables G protein activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables G protein activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables G-protein alpha-subunit binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables G-protein beta-subunit binding ISO
    Inferred from Sequence Orthology
    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 GTP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables GTPase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables adenylate cyclase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables adenylate cyclase activator activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables adenylate cyclase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables adenylate cyclase regulator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables alkylglycerophosphoethanolamine phosphodiesterase activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables alpha-tubulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables beta-2 adrenergic receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables beta-2 adrenergic receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables corticotropin-releasing hormone receptor 1 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables corticotropin-releasing hormone receptor 1 binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables insulin-like growth factor receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables insulin-like growth factor receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ionotropic glutamate receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ionotropic glutamate receptor binding ISO
    Inferred from Sequence Orthology
    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 mu-type opioid receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within adenylate cyclase-activating G protein-coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    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 G protein-coupled receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in adenylate cyclase-activating adrenergic receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in adenylate cyclase-activating adrenergic receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in adenylate cyclase-activating dopamine receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within adenylate cyclase-activating dopamine receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in adenylate cyclase-activating dopamine receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in bone development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cartilage development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to catecholamine stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to glucagon stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to prostaglandin E stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cognition ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in developmental growth ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within embryonic cranial skeleton morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic hindlimb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within endochondral ossification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within energy reserve metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within genomic imprinting IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hair follicle placode formation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of blood pressure ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in platelet aggregation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cold-induced thermogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of insulin secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of insulin secretion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of insulin secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of osteoclast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of sodium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within post-embryonic body morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within post-embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of parathyroid hormone secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to parathyroid hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to parathyroid hormone ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within response to xenobiotic stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sensory perception of chemical stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within skin development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within tissue homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in COPI-coated Golgi to ER transport vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome ISO
    Inferred from Sequence Orthology
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    part_of heterotrimeric G-protein complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in recycling endosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in ruffle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in sarcolemma ISO
    Inferred from Sequence Orthology
    more info
     
    located_in trans-Golgi network membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in transport vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein ALEX; protein GNAS; protein SCG6 (secretogranin VI)
    Names
    GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus
    Gs alpha subunit
    adenylate cyclase-stimulating G alpha protein
    alternative gene product encoded by XL-exon
    extra large alphas protein
    neuroendocrine secretory protein 55
    secretogranin VI
    stimulatory G-protein alpha subunit

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001077507.2NP_001070975.1  protein GNAS isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, also known as GNASXL) is paternally expressed. It has an alternate 5' exon, lacks an internal exon and uses an alternate splice site in the coding region, compared to variant 7. It encodes isoform f (also known as XLas), which has a longer and distinct N-terminus and lacks an internal segment, compared to isoform GNASL. Isoform f is the neuroendocrine-specific G-protein alpha subunit.
      Source sequence(s)
      AF116268, AK030489, AL593857, BU516278
      Consensus CDS
      CCDS38354.1
      UniProtKB/Swiss-Prot
      Q6R0H6, Q6R0H7
      Related
      ENSMUSP00000085184.5, ENSMUST00000087876.11
      Conserved Domains (2) summary
      cd00066
      Location:7801113
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
      smart00275
      Location:7591116
      G_alpha; G protein alpha subunit
    2. NM_001077510.5NP_001070978.1  protein GNAS isoform GNASS

      See identical proteins and their annotated locations for NP_001070978.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) is biallelically expressed. It lacks an internal exon and uses an alternate splice site, compared to variant 7. It encodes the isoform GNASS, also known as alpha-S1, which lacks an internal segment and has two amino acids different, compared to isoform GNASL.
      Source sequence(s)
      AK159563, AL593857, BC062654, BU054033, DV057819
      Consensus CDS
      CCDS38357.1
      UniProtKB/Swiss-Prot
      P63094
      Related
      ENSMUSP00000104713.2, ENSMUST00000109085.8
      Conserved Domains (1) summary
      cd00066
      Location:41374
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    3. NM_001310083.1NP_001297012.1  protein GNAS isoform GNASL

      See identical proteins and their annotated locations for NP_001297012.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR, compared to variant 7. Variants 7 and 10 encode the same isoform guanine nucleotide binding protein alpha-s long (GNASL, also known as alpha-S2), a form of the G-protein alpha subunit.
      Source sequence(s)
      BC062654, BM944582, BU516278
      Consensus CDS
      CCDS38356.1
      UniProtKB/Swiss-Prot
      A2A611, A2A612, A2A613, P04894, P08755, P63094, Q3KQM5, Q3TFV3, Q3TWS9, Q3UI70, Q58E62, Q6P7U9, Q80ZK6, Q8K5E1, Q9Z1R7
      Related
      ENSMUSP00000085179.5, ENSMUST00000087871.11
      Conserved Domains (1) summary
      cd00066
      Location:41388
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    4. NM_001310085.1NP_001297014.1  protein GNAS isoform XXLb2

      See identical proteins and their annotated locations for NP_001297014.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) is paternally expressed and includes an alternate 5' exon structure, compared to variant 7. This variant is reported in PMID:15148396. It encodes isoform XXLb2, which has a distinct and shorter C-terminus, compared to isoform XLas.
      Source sequence(s)
      AK030489, AK132636, AL593857, BU516278
      Consensus CDS
      CCDS89590.1
      UniProtKB/Swiss-Prot
      Q6R0H6, Q6R0H7
      Related
      ENSMUSP00000158758.2, ENSMUST00000154658.8
      Conserved Domains (2) summary
      smart00275
      Location:759786
      G_alpha; G protein alpha subunit
      PRK12323
      Location:330531
      PRK12323; DNA polymerase III subunits gamma and tau; Provisional
    5. NM_001364030.1NP_001350959.1  protein ALEX isoform i

      Status: REVIEWED

      Source sequence(s)
      AL593857
      Consensus CDS
      CCDS89591.1
      UniProtKB/TrEMBL
      Z4YKV1
      Related
      ENSMUSP00000104712.2, ENSMUST00000109084.8
      Conserved Domains (1) summary
      cd00066
      Location:41373
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    6. NM_010309.4NP_034439.2  protein GNAS isoform XLas

      See identical proteins and their annotated locations for NP_034439.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as GNASXL) is paternally expressed. It includes an alternate 5' exon, compared to variant 7. This variant includes two overlapping open reading frames encoding distinct isoforms XLas and Alex, respectively. This RefSeq represents the isoform XLas (also known as alpha sXXL), which is a neuroendocrine-specific G-protein alpha subunit. It has a distinct and longer N-terminus, compared to isoform GNASL.
      Source sequence(s)
      AK132636, AL593857, BU516278
      Consensus CDS
      CCDS17151.1
      UniProtKB/Swiss-Prot
      A2A607, A2A608, Q6R0H4, Q6R0H5, Q6R0H7, Q6R2J5, Q9JJX0, Q9Z1N8
      Related
      ENSMUSP00000140174.2, ENSMUST00000185956.7
      Conserved Domains (2) summary
      cd00066
      Location:7801127
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
      smart00275
      Location:7591130
      G_alpha; G protein alpha subunit
    7. NM_019690.3NP_062664.2  protein SCG6 (secretogranin VI) isoform SCG6 precursor

      See identical proteins and their annotated locations for NP_062664.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) is maternally expressed. It lacks several 3' exons and has alternate 5' and 3' exons, compared to variant 7. Variants 3 and 4 both encode isoform secretogranin VI (SCG6, also known as NESP55), which localizes to large secretory vesicles of endocrine cells and neurons. The coding regions of variants 3 and 4 do 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 NESPAS.
      Source sequence(s)
      AJ010163, AL593857, AV353621, BB632851, BX636499, BY600941, BY718446, CF730992
      Consensus CDS
      CCDS17149.1
      UniProtKB/Swiss-Prot
      Q9QXW5, Q9Z0F1, Q9Z0H2
      Related
      ENSMUSP00000136180.2, ENSMUST00000180362.8
      Conserved Domains (1) summary
      pfam06390
      Location:1253
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
    8. NM_022000.3NP_068840.2  protein SCG6 (secretogranin VI) isoform SCG6 precursor

      See identical proteins and their annotated locations for NP_068840.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is maternally expressed and has alternate 5' exons, compared to variant 7. Variants 3 and 4 both encode isoform secretogranin VI (SCG6, also known as NESP55), which localizes to large secretory vesicles of endocrine cells and neurons. The coding regions of variants 3 and 4 do 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 NESPAS.
      Source sequence(s)
      AJ010163, AK039035, AK132636, BU516278
      Consensus CDS
      CCDS17149.1
      UniProtKB/Swiss-Prot
      Q9QXW5, Q9Z0F1, Q9Z0H2
      Related
      ENSMUSP00000104724.3, ENSMUST00000109096.9
      Conserved Domains (1) summary
      pfam06390
      Location:1253
      NESP55; Neuroendocrine-specific golgi protein P55 (NESP55)
    9. NM_201616.3NP_963910.1  protein GNAS isoform GNASL

      See identical proteins and their annotated locations for NP_963910.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) is biallelically expressed and encodes guanine nucleotide binding protein alpha-s long (GNASL) isoform, also known as alpha-S2, a form of the G-protein alpha subunit. Variants 7 and 10 encode the same isoform (GNASL).
      Source sequence(s)
      AK159563, AK168996, AL593857, BU516278, CK625094
      Consensus CDS
      CCDS38356.1
      UniProtKB/Swiss-Prot
      A2A611, A2A612, A2A613, P04894, P08755, P63094, Q3KQM5, Q3TFV3, Q3TWS9, Q3UI70, Q58E62, Q6P7U9, Q80ZK6, Q8K5E1, Q9Z1R7
      Related
      ENSMUSP00000104715.2, ENSMUST00000109087.8
      Conserved Domains (1) summary
      cd00066
      Location:41388
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    10. NM_201617.2NP_963911.1  protein GNAS isoform XXLb1

      See identical proteins and their annotated locations for NP_963911.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) is paternally expressed. Its 5' exon overlaps with variant 1 and none of its sequence overlaps with variant 7. This variant encodes isoform XXLb1, which has a distinct and shorter C-terminus, compared to isoform XLas. This variant is based on data in PMID:15148396.
      Source sequence(s)
      AK030489, AL593857
      Consensus CDS
      CCDS38355.1
      UniProtKB/Swiss-Prot
      Q6R0H6, Q6R0H7
      Related
      ENSMUSP00000085185.5, ENSMUST00000087877.11
      Conserved Domains (2) summary
      smart00275
      Location:759786
      G_alpha; G protein alpha subunit
      PRK12323
      Location:330531
      PRK12323; DNA polymerase III subunits gamma and tau; Provisional
    11. NM_201618.2NP_963912.1  protein ALEX isoform Alex

      See identical proteins and their annotated locations for NP_963912.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as GNASXL) is paternally expressed. It includes an alternate 5' exon, compared to variant 7. This variant includes two overlapping open reading frames encoding XLas and Alex, respectively. This RefSeq represents 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.
      Source sequence(s)
      AK132636, AL593857, BU516278
      Consensus CDS
      CCDS50817.1
      UniProtKB/Swiss-Prot
      A6PW72, Q6R0H6, Q8BIR3
      Related
      ENSMUSP00000139839.2, ENSMUST00000186907.7
      Conserved Domains (1) summary
      PHA03247
      Location:380674
      PHA03247; large tegument protein UL36; Provisional

    RNA

    1. NR_003258.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9, also known as Exon1A) is paternally expressed and has two alternate 5' exons, compared to variant 7. This variant is represented as non-coding because it lacks a portion of the coding region, including the translational start codon, found in variant 7. This variant is described in PMID:19412439 and it may regulate imprinting of the GNAS transcripts.
      Source sequence(s)
      AL593857

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      174126113..174188537
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006498778.3XP_006498841.1  protein GNAS isoform X4

      Conserved Domains (1) summary
      cd00066
      Location:5341
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    2. XM_006498777.2XP_006498840.1  protein GNAS isoform X3

      Conserved Domains (1) summary
      cd00066
      Location:5357
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    3. XM_006498780.2XP_006498843.1  protein GNAS isoform X7

      Conserved Domains (3) summary
      cd00066
      Location:7801112
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
      PHA03247
      Location:50496
      PHA03247; large tegument protein UL36; Provisional
      PRK12323
      Location:330531
      PRK12323; DNA polymerase III subunit gamma/tau
    4. XM_017315658.2XP_017171147.1  protein GNAS isoform X5

      UniProtKB/TrEMBL
      A0A571BEI3
      Related
      ENSMUSP00000158707.2, ENSMUST00000156623.8
      Conserved Domains (1) summary
      cd00066
      Location:1329
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    5. XM_030247568.1XP_030103428.1  protein GNAS isoform X2

      UniProtKB/Swiss-Prot
      A2A611, A2A612, A2A613, P04894, P08755, P63094, Q3KQM5, Q3TFV3, Q3TWS9, Q3UI70, Q58E62, Q6P7U9, Q80ZK6, Q8K5E1, Q9Z1R7
      Conserved Domains (1) summary
      cd00066
      Location:41388
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    6. XM_030247569.2XP_030103429.1  protein GNAS isoform X6

      Conserved Domains (1) summary
      cd00066
      Location:1314
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
    7. XM_006498774.3XP_006498837.1  protein GNAS isoform X1

      Conserved Domains (1) summary
      cd00066
      Location:41389
      G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

    RNA

    1. XR_374414.4 RNA Sequence

    2. XR_003950807.2 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_010310.1: Suppressed sequence

      Description
      NM_010310.1: This RefSeq was permanently suppressed because it is now thought that this transcript does not encode a protein.