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

    Gene ID: 50628, updated on 11-May-2012
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    Summary

    Official Symbol
    GEMIN4provided by HGNC
    Official Full Name
    gem (nuclear organelle) associated protein 4provided by HGNC
    Primary source
    HGNC:15717
    See related
    Ensembl:ENSG00000179409; HPRD:07370; MIM:606969
    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; DKFZp434B131; DKFZp434D174
    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]
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    Genomic context

    Location :
    17p13
    Sequence :
    Chromosome: 17; NC_000017.10 (647661..655501, complement)
    See GEMIN4 in Epigenomics, MapViewer

    Chromosome 17 - NC_000017.10Genomic Context describing neighboring genes Neighboring gene vacuolar protein sorting 53 homolog (S. cerevisiae) Neighboring gene ribosomal protein S4X pseudogene 17 Neighboring gene family with sequence similarity 57, member A Neighboring gene diazepam binding inhibitor-like 5, pseudogene Neighboring gene glyoxalase domain containing 4 Neighboring gene RNA methyltransferase like 1

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    5. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. Zhang X, et al. Carcinogenesis, 2010 Dec. PMID 20819778.

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Role of primary miRNA polymorphic variants in metastatic colon cancer patients treated with 5-fluorouracil and irinotecan.
    2. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Black carbon exposures, blood pressure, and interactions with single nucleotide polymorphisms in MicroRNA processing genes.
    3. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of a common AGO1 variant with lung cancer risk: a two-stage case-control study.
    5. A canonical nuclear import sequence in the N-terminus of Gemin4 was identified.
      Title: Identification and characterisation of a nuclear localisation signal in the SMN associated protein, Gemin4.
    6. Gemin3 and Gemin4 function in Sm core assembly and correlate the activity of this pathway with Spinal Muscular Atrophy.
      Title: Gemin proteins are required for efficient assembly of Sm-class ribonucleoproteins.
    7. zinc-finger proteins were identified as HCAP1-interacting proteins
      Title: HCC-associated protein HCAP1, a variant of GEMIN4, interacts with zinc-finger proteins.
    8. A haplotype of HCAP1 with minor alleles at 5 single nucleotide polymorphisms may be related to cancer susceptibility: its expression causes up-regulation of genes involved in cell growth and down-regulation of genes involved in apoptosis and DNA repair.
      Title: Two variants of the human hepatocellular carcinoma-associated HCAP1 gene and their effect on the growth of the human liver cancer cell line Hep3B.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    AAG17985.1 NP_005822.1 CALCOCO2    BIND  PubMed HCAP1 interacts with NDP52 
    AAG17985.1 NP_006090.1 PIAS3    BIND  PubMed HCAP1 interacts with PIAS3 
    AAG17985.1 NP_955359.1 SPRY1    BIND  PubMed HCAP1 interacts with SPRY1 
    AAG17985.1 AAH00082.2 SRRT    BIND  PubMed HCAP1 interacts with ARS2 
    P57678 NDP52 CALCOCO2    HPRD  PubMed  
    P57678 Q9UHI6 DDX20    HPRD  PubMed  
    P57678 Q08211 DHX9    HPRD  PubMed  
    P57678 Q8TEQ6 GEMIN5    HPRD  PubMed  
    P57678 Q15046 KARS    HPRD  PubMed  
    P57678 P09382 LGALS1    HPRD  PubMed  
    P57678 P17931 LGALS3    HPRD  PubMed  
    P57678 Q9Y6X2 PIAS3    HPRD  PubMed  
    P57678 P14678 SNRPB    HPRD  PubMed  
    P57678 P62314 SNRPD1    HPRD  PubMed  
    P57678 P62316 SNRPD2    HPRD  PubMed  
    P57678 O43609 SPRY1    HPRD  PubMed  
    P57678 Arsenite resistance protein 2 SRRT    HPRD  PubMed  
    P57678 Q15833 STXBP2    HPRD  PubMed  
    P57678 O00186 STXBP3    HPRD  PubMed  
    BioGRID:119102 BioGRID:120578 BRF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119102 BioGRID:107454 CDK4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119102 BioGRID:107612 CLN3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119102 BioGRID:116387 DDX20    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:119102 BioGRID:108025 DHX9    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:119102 BioGRID:118041 EIF2C2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:119102 BioGRID:108399 FBL    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:119102 BioGRID:114603 FIBP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119102 BioGRID:119949 GAR1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:119102 BioGRID:117429 GEMIN5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:119102 BioGRID:122925 GEMIN6    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:119102 BioGRID:117520 GIGYF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119102 BioGRID:115978 GIPC1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119102 BioGRID:109187 GSK3B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119102 BioGRID:109824 ILK    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119102 BioGRID:110147 LGALS1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:119102 BioGRID:110149 LGALS3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:119102 BioGRID:110694 MYC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119102 BioGRID:110862 NFKBIL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119102 BioGRID:111523 PPP4C    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:119102 BioGRID:127414 PPP4R2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:119102 BioGRID:116125 RNPS1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119102 BioGRID:122479 SLX1B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119102 BioGRID:112490 SMN1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-fractionation; Co-purification 
    BioGRID:119102 BioGRID:112512 SNRPB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119102 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119102 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:119102 BioGRID:278406 spt5    BioGRID  PubMed Dosage Rescue 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Metabolism of non-coding RNA, organism-specific biosystem (from REACTOME)
      Metabolism of non-coding RNA, organism-specific biosystemThe term non-coding is commonly employed for RNA that does not encode a protein, but this does not mean that such RNAs do not contain information nor have function. There is considerable evidence tha...
    • RNA transport, organism-specific biosystem (from KEGG)
      RNA transport, organism-specific biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
    • RNA transport, conserved biosystem (from KEGG)
      RNA transport, conserved biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
    • Survival motor neuron (SMN) complex, organism-specific biosystem (from KEGG)
      Survival motor neuron (SMN) complex, organism-specific biosystemStructural complex; Genetic information processing; RNA processing
    • snRNP Assembly, organism-specific biosystem (from REACTOME)
      snRNP Assembly, organism-specific biosystemSmall nuclear ribonucleoproteins (snRNPs) are crucial for pre-mRNA processing to mRNAs. Each snRNP contains a small nuclear RNA (snRNA) and an extremely stable core of seven Sm proteins. The U6 snRNA...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    RNA metabolic process TAS
    Traceable Author Statement
    more info
    		  
    RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    gene expression TAS
    Traceable Author Statement
    more info
    		  
    mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    ncRNA metabolic process TAS
    Traceable Author Statement
    more info
    		  
    rRNA processing TAS
    Traceable Author Statement
    more info
    		 PubMed 
    spliceosomal snRNP assembly TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    Cajal body IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    small nuclear ribonucleoprotein complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    spliceosomal complex IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    gem-associated protein 4
    Names
    gem-associated protein 4
    gemin-4
    component of gems 4
    HCC-associated protein 1
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    NCBI Reference Sequences (RefSeq)

    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_015721.2 → NP_056536.2  gem-associated protein 4

      Status: REVIEWED

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

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000017.10 Reference GRCh37.p5 Primary Assembly

      Range
      647661..655501, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000149.1 Alternate HuRef

      Range
      558632..566471, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC087392.10 (158734..166374) None
    genomic AF258545.2 AAG24546.1
    genomic CH471108.2 EAW90653.1
      EAW90654.1
    mRNA AF173856.1 AAF35283.1
    mRNA AF177341.2 AAG17985.1
    mRNA AK302722.1 BAG63941.1
    mRNA AL080150.1 CAB45743.3
    mRNA AL080167.1 CAB45755.1
    mRNA BC020062.1 AAH20062.1
    mRNA BC032084.1 None
    mRNA BC036024.1 None
    mRNA DB455185.1 None
    other-genetic EU832469.1 ACE87641.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P57678.2 GenPept UniProtKB/Swiss-Prot:P57678
    Q8WUM5 GenPept UniProtKB/TrEMBL:Q8WUM5
    Q9HBB9 GenPept UniProtKB/TrEMBL:Q9HBB9
    Q9HC39 GenPept UniProtKB/TrEMBL:Q9HC39
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    Additional Links

    Gene LinkOut

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

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

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