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

Gene ID: 237221, updated on 27-Nov-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, Nov 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

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