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

    Gene ID: 54960, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    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.

    Genomic

    1. NG_021285.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001042479.2NP_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:14242
      GEMIN8; Gemini of Cajal bodies-associated protein 8
    2. NM_001042480.2NP_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:14242
      GEMIN8; Gemini of Cajal bodies-associated protein 8
    3. NM_017856.3NP_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:14242
      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_005274555.4XP_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:115343
      GEMIN8; Gemini of Cajal bodies-associated protein 8
    2. XM_047442230.1XP_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_054327340.1XP_054183315.1  gem-associated protein 8 isoform X1

    2. XM_054327341.1XP_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