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    GEMIN6 gem nuclear organelle associated protein 6 [ Homo sapiens (human) ]

    Gene ID: 79833, updated on 5-Mar-2024

    Summary

    Official Symbol
    GEMIN6provided by HGNC
    Official Full Name
    gem nuclear organelle associated protein 6provided by HGNC
    Primary source
    HGNC:HGNC:20044
    See related
    Ensembl:ENSG00000152147 MIM:607006; AllianceGenome:HGNC:20044
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    GEMIN6 is part of a large macromolecular complex, localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).[supplied by OMIM, Jul 2002]
    Expression
    Ubiquitous expression in testis (RPKM 12.8), lymph node (RPKM 7.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    2p22.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (38778210..38785002)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (38786997..38793792)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (39005352..39012144)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 39D, pseudogene Neighboring gene NPL pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:39016221-39016721 Neighboring gene MPRA-validated peak3667 silencer Neighboring gene DExH-box helicase 57 Neighboring gene argininosuccinate synthetase 1 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 4728 Neighboring gene uncharacterized LOC105374470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15611

    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

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr is identified to have a physical interaction with gem (nuclear organelle) associated protein 6 (GEMIN6) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • FLJ23459

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in mRNA splicing, via spliceosome TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in spliceosomal complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    involved_in spliceosomal snRNP assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Gemini of coiled bodies IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 nuclear body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    gem-associated protein 6
    Names
    SIP2
    gemin-6

    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_024775.10NP_079051.9  gem-associated protein 6

      See identical proteins and their annotated locations for NP_079051.9

      Status: VALIDATED

      Source sequence(s)
      AC018693, BC029584, BM471707
      Consensus CDS
      CCDS1799.1
      UniProtKB/Swiss-Prot
      B2RDP8, Q53SI5, Q8WVB4, Q8WXD5, Q9H5G6
      Related
      ENSP00000281950.2, ENST00000281950.8
      Conserved Domains (1) summary
      cl00259
      Location:1167
      Sm_like; Sm and related proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      38778210..38785002
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      38786997..38793792
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)