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    GEMIN8 gem nuclear organelle associated protein 8 [ Homo sapiens (human) ]

    Gene ID: 54960, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GEMIN8provided by HGNC
    Official Full Name
    gem nuclear organelle associated protein 8provided by HGNC
    Primary source
    HGNC:HGNC:26044
    See related
    Ensembl:ENSG00000046647 MIM:300962; AllianceGenome:HGNC:26044
    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
    FAM51A1
    Summary
    The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
    Expression
    Ubiquitous expression in ovary (RPKM 3.3), thyroid (RPKM 3.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GEMIN8 in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (13984185..14029892, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (13566300..13610205, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (14024845..14048011, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:13752241-13753440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:13778869-13779368 Neighboring gene trafficking protein particle complex subunit 2 Neighboring gene NANOG hESC enhancer GRCh37_chrX:13820205-13820738 Neighboring gene OFD1 centriole and centriolar satellite protein Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:13845691-13846890 Neighboring gene glycoprotein M6B Neighboring gene H3K27ac hESC enhancers GRCh37_chrX:14047600-14048100 and GRCh37_chrX:14048101-14048601 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:14051018-14051200 Neighboring gene ubiquitin conjugating enzyme E2 E4 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:14369907-14370598 Neighboring gene uncharacterized LOC107985686 Neighboring gene glycine receptor alpha 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    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. Ubiquitin-specific protease 9x deubiquitinates and stabilizes the spinal muscular atrophy protein-survival motor neuron. Han KJ, et al. J Biol Chem, 2012 Dec 21. PMID 23112048, Free PMC Article
    3. Monoubiquitination of survival motor neuron regulates its cellular localization and Cajal body integrity. Han KJ, et al. Hum Mol Genet, 2016 Apr 1. PMID 26908624, Free PMC Article
    4. The SMN complex, an assemblyosome of ribonucleoproteins. Paushkin S, et al. Curr Opin Cell Biol, 2002 Jun. PMID 12067652
    5. A comprehensive interaction map of the human survival of motor neuron (SMN) complex. Otter S, et al. J Biol Chem, 2007 Feb 23. PMID 17178713

    See all (40) 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

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20514, FLJ43072

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in spliceosomal snRNP assembly EXP
    Inferred from Experiment
    more info
    		 PubMed 
    involved_in spliceosomal snRNP assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spliceosomal snRNP assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of SMN complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of SMN-Sm protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    gem-associated protein 8
    Names
    family with sequence similarity 51, member A1
    gemin-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.

    Genomic

    1. NG_021285.2 RefSeqGene

      Range
      5000..28166
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042479.2 → NP_001035944.1  gem-associated protein 8

      See identical proteins and their annotated locations for NP_001035944.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. All three variants encode the same protein.
      Source sequence(s)
      AC003035, AK000521, BX386466
      Consensus CDS
      CCDS14159.1
      UniProtKB/Swiss-Prot
      C4AMC4, Q2LJ66, Q6ZV27, Q9NWZ8
      Related
      ENSP00000505429.1, ENST00000680255.1
      Conserved Domains (1) summary
      pfam15348
      Location:14 → 242
      GEMIN8; Gemini of Cajal bodies-associated protein 8

    2. NM_001042480.2 → NP_001035945.1  gem-associated protein 8

      See identical proteins and their annotated locations for NP_001035945.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. All three variants encode the same protein.
      Source sequence(s)
      AC003035, BC020785
      Consensus CDS
      CCDS14159.1
      UniProtKB/Swiss-Prot
      C4AMC4, Q2LJ66, Q6ZV27, Q9NWZ8
      Related
      ENSP00000381398.3, ENST00000398355.7
      Conserved Domains (1) summary
      pfam15348
      Location:14 → 242
      GEMIN8; Gemini of Cajal bodies-associated protein 8

    3. NM_017856.3 → NP_060326.1  gem-associated protein 8

      See identical proteins and their annotated locations for NP_060326.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript. All three variants encode the same protein.
      Source sequence(s)
      AC003035, AK000521
      Consensus CDS
      CCDS14159.1
      UniProtKB/Swiss-Prot
      C4AMC4, Q2LJ66, Q6ZV27, Q9NWZ8
      Related
      ENSP00000369895.4, ENST00000380523.8
      Conserved Domains (1) summary
      pfam15348
      Location:14 → 242
      GEMIN8; Gemini of Cajal bodies-associated protein 8

    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

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      13984185..14029892 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005274555.4 → XP_005274612.1  gem-associated protein 8 isoform X1

      See identical proteins and their annotated locations for XP_005274612.1

      Conserved Domains (1) summary
      pfam15348
      Location:115 → 343
      GEMIN8; Gemini of Cajal bodies-associated protein 8

    2. XM_047442230.1 → XP_047298186.1  gem-associated protein 8 isoform X2

      UniProtKB/Swiss-Prot
      C4AMC4, Q2LJ66, Q6ZV27, Q9NWZ8

    RNA

    1. XR_950464.4 RNA Sequence

    2. XR_001755703.2 RNA Sequence

    3. XR_001755702.2 RNA Sequence

    4. XR_950467.4 RNA Sequence

    5. XR_007068192.1 RNA Sequence

    6. XR_950466.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      13566300..13610205 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327340.1 → XP_054183315.1  gem-associated protein 8 isoform X1

    2. XM_054327341.1 → XP_054183316.1  gem-associated protein 8 isoform X2

      UniProtKB/Swiss-Prot
      C4AMC4, Q2LJ66, Q6ZV27, Q9NWZ8

    RNA

    1. XR_008485488.1 RNA Sequence

    2. XR_008485486.1 RNA Sequence

    3. XR_008485490.1 RNA Sequence

    4. XR_008485489.1 RNA Sequence

    5. XR_008485491.1 RNA Sequence

    6. XR_008485487.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NWZ8.1 GenPept UniProtKB/Swiss-Prot:Q9NWZ8

    Gene LinkOut

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

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