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    GEMIN4 gem nuclear organelle associated protein 4 [ Homo sapiens (human) ]

    Gene ID: 50628, updated on 3-Dec-2024

    Summary

    Official Symbol
    GEMIN4provided by HGNC
    Official Full Name
    gem nuclear organelle associated protein 4provided by HGNC
    Primary source
    HGNC:HGNC:15717
    See related
    Ensembl:ENSG00000179409 MIM:606969; AllianceGenome:HGNC:15717
    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
    p97; HC56; HCAP1; HHRF-1; NEDMCR
    Summary
    The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 20.3), skin (RPKM 9.4) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GEMIN4 in Genome Data Viewer
    Location:
    17p13.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (744421..754410, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (629497..641166, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (647661..655504, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903893 Neighboring gene Sharpr-MPRA regulatory region 11717 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7945 Neighboring gene TLC domain containing 3A Neighboring gene diazepam binding inhibitor-like 5, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11440 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:685572-686120 Neighboring gene glyoxalase domain containing 4 Neighboring gene Sharpr-MPRA regulatory region 8532 Neighboring gene mitochondrial rRNA methyltransferase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11442 Neighboring gene nucleoredoxin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:736782-737522 Neighboring gene Sharpr-MPRA regulatory region 9814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:746053-747038 Neighboring gene uncharacterized LOC124903894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:753668-754242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:754898-755398

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
    MedGen: C4693567 OMIM: 617913 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    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 4 (GEMIN4) 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

    Markers

    Clone Names

    • DKFZp434B131, DKFZp434D174

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ribonucleoprotein complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in rRNA processing 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 
    Component Evidence Code Pubs
    located_in Cajal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 TAS
    Traceable Author Statement
    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 extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    part_of small nuclear ribonucleoprotein complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    gem-associated protein 4
    Names
    HCC-associated protein 1
    component of gems 4
    gemin-4

    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_046938.1 RefSeqGene

      Range
      5609..13452
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015721.3NP_056536.2  gem-associated protein 4

      See identical proteins and their annotated locations for NP_056536.2

      Status: REVIEWED

      Source sequence(s)
      AC087392, BC020062, BC036024, DB455185
      Consensus CDS
      CCDS45559.1
      UniProtKB/Swiss-Prot
      P57678, Q9NZS7, Q9UG32, Q9Y4Q2
      UniProtKB/TrEMBL
      Q8WUM5
      Related
      ENSP00000321706.5, ENST00000319004.6

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      744421..754410 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436180.1XP_047292136.1  gem-associated protein 4 isoform X1

      UniProtKB/TrEMBL
      Q8WUM5
    2. XM_005256670.6XP_005256727.1  gem-associated protein 4 isoform X2

      See identical proteins and their annotated locations for XP_005256727.1

      UniProtKB/TrEMBL
      I3L2C7, Q9HBB9
    3. XM_011523911.3XP_011522213.1  gem-associated protein 4 isoform X1

      See identical proteins and their annotated locations for XP_011522213.1

      UniProtKB/TrEMBL
      Q8WUM5
    4. XM_017024709.2XP_016880198.1  gem-associated protein 4 isoform X1

      UniProtKB/TrEMBL
      Q8WUM5
    5. XM_011523910.3XP_011522212.1  gem-associated protein 4 isoform X1

      See identical proteins and their annotated locations for XP_011522212.1

      UniProtKB/TrEMBL
      Q8WUM5
    6. XM_011523913.3XP_011522215.1  gem-associated protein 4 isoform X2

      See identical proteins and their annotated locations for XP_011522215.1

      UniProtKB/TrEMBL
      I3L2C7, Q9HBB9
    7. XM_011523912.3XP_011522214.1  gem-associated protein 4 isoform X2

      See identical proteins and their annotated locations for XP_011522214.1

      UniProtKB/TrEMBL
      I3L2C7, Q9HBB9
      Related
      ENSP00000459565.1, ENST00000576778.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      629497..641166 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316332.1XP_054172307.1  gem-associated protein 4 isoform X1

      UniProtKB/TrEMBL
      Q8WUM5
    2. XM_054316333.1XP_054172308.1  gem-associated protein 4 isoform X2

      UniProtKB/TrEMBL
      Q9HBB9, Q9HC39
    3. XM_054316330.1XP_054172305.1  gem-associated protein 4 isoform X1

      UniProtKB/TrEMBL
      Q8WUM5
    4. XM_054316329.1XP_054172304.1  gem-associated protein 4 isoform X1

      UniProtKB/TrEMBL
      Q8WUM5
    5. XM_054316331.1XP_054172306.1  gem-associated protein 4 isoform X1

      UniProtKB/TrEMBL
      Q8WUM5
    6. XM_054316335.1XP_054172310.1  gem-associated protein 4 isoform X2

      UniProtKB/TrEMBL
      Q9HBB9, Q9HC39
    7. XM_054316334.1XP_054172309.1  gem-associated protein 4 isoform X2

      UniProtKB/TrEMBL
      Q9HBB9, Q9HC39