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    Gemin8 gem nuclear organelle associated protein 8 [ Mus musculus (house mouse) ]

    Gene ID: 237221, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Gemin8provided by MGI
    Official Full Name
    gem nuclear organelle associated protein 8provided by MGI
    Primary source
    MGI:MGI:2384300
    See related
    Ensembl:ENSMUSG00000040621 AllianceGenome:MGI:2384300
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    gemin-8; B130034M20Rik; B930082C09Rik
    Summary
    Predicted to be involved in spliceosomal snRNP assembly. Predicted to be located in cytosol and nucleus. Predicted to be part of SMN complex. Is expressed in submandibular gland primordium. Orthologous to human GEMIN8 (gem nuclear organelle associated protein 8). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 5.4), limb E14.5 (RPKM 4.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gemin8 in Genome Data Viewer
    Location:
    X F5; X 76.75 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (164953412..164973508)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (166170454..166190512)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 22062 Neighboring gene glucosaminyl (N-acetyl) transferase 1, core 2 pseudogene Neighboring gene STARR-seq mESC enhancer starr_48252 Neighboring gene glycoprotein m6b Neighboring gene STARR-positive B cell enhancer ABC_E11806 Neighboring gene OFD1, centriole and centriolar satellite protein Neighboring gene trafficking protein particle complex 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly. Carissimi C, et al. J Biol Chem, 2006 Mar 24. PMID 16434402
    2. Gemin8 is required for the architecture and function of the survival motor neuron complex. Carissimi C, et al. J Biol Chem, 2006 Dec 1. PMID 17023415
    3. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
    5. Antisense transcription in the mammalian transcriptome. Katayama S, et al. Science, 2005 Sep 2. PMID 16141073

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Gemin8 is a novel integral component of the SMN complex
      Title: Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly.
    2. Gemin8 has an essential role in the proper structural organization of the SMN complex and the involvement of the heteromeric subunit containing Gemin6, Gemin7, Gemin8, and Unrip in the recruitment of Sm proteins to the snRNP assembly pathway
      Title: Gemin8 is required for the architecture and function of the survival motor neuron complex.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC32253, RP23-224N1.1

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in spliceosomal snRNP assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spliceosomal snRNP assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in spliceosomal snRNP assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Gemini of coiled bodies IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of SMN complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of SMN complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of SMN complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of SMN-Sm protein complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of SMN-Sm protein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    gem-associated protein 8

    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.

    mRNA and Protein(s)

    1. NM_001310722.1 → NP_001297651.1  gem-associated protein 8 isoform 1

      See identical proteins and their annotated locations for NP_001297651.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer protein (isoform 1). Both variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AK047511, AK053774, AL713990
      Consensus CDS
      CCDS41207.1
      UniProtKB/Swiss-Prot
      B1AVP4, Q3TUT1, Q8BHE1, Q8R3W9
      Related
      ENSMUSP00000084414.5, ENSMUST00000087169.11
      Conserved Domains (1) summary
      pfam15348
      Location:10 → 238
      GEMIN8; Gemini of Cajal bodies-associated protein 8

    2. NM_001310724.1 → NP_001297653.1  gem-associated protein 8 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' UTR and uses an alternate splice site in the 5' coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AK037580, AK053774, AL713990
      Consensus CDS
      CCDS81195.1
      UniProtKB/TrEMBL
      B1AVP5
      Related
      ENSMUSP00000093971.4, ENSMUST00000096252.10
      Conserved Domains (1) summary
      pfam15348
      Location:3 → 207
      GEMIN8; Gemini of Cajal bodies-associated protein 8

    3. NM_146238.4 → NP_666350.2  gem-associated protein 8 isoform 1

      See identical proteins and their annotated locations for NP_666350.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AK053774, AK160583, AL713990
      Consensus CDS
      CCDS41207.1
      UniProtKB/Swiss-Prot
      B1AVP4, Q3TUT1, Q8BHE1, Q8R3W9
      Related
      ENSMUSP00000085137.4, ENSMUST00000056410.11
      Conserved Domains (1) summary
      pfam15348
      Location:10 → 238
      GEMIN8; Gemini of Cajal bodies-associated protein 8

    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_000086.8 Reference GRCm39 C57BL/6J

      Range
      164953412..164973508
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036161945.1 → XP_036017838.1  gem-associated protein 8 isoform X1

      UniProtKB/Swiss-Prot
      B1AVP4, Q3TUT1, Q8BHE1, Q8R3W9
      Related
      ENSMUSP00000118482.3, ENSMUST00000130880.9
      Conserved Domains (1) summary
      pfam15348
      Location:10 → 238
      GEMIN8; Gemini of Cajal bodies-associated protein 8
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BHE1.1 GenPept UniProtKB/Swiss-Prot:Q8BHE1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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