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    GEMIN5 gem nuclear organelle associated protein 5 [ Homo sapiens (human) ]

    Gene ID: 25929, updated on 6-Dec-2016
    Official Symbol
    GEMIN5provided by HGNC
    Official Full Name
    gem nuclear organelle associated protein 5provided by HGNC
    Primary source
    HGNC:HGNC:20043
    See related
    Ensembl:ENSG00000082516 MIM:607005; Vega:OTTHUMG00000130189
    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
    GEMIN-5
    Summary
    This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
    Orthologs
    Location:
    5q33.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (154887416..154938216, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (154266976..154317776, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene fatty acid hydroxylase domain containing 2 Neighboring gene microRNA 378h Neighboring gene CCR4-NOT transcription complex subunit 8 Neighboring gene mitochondrial ribosomal protein L22 Neighboring gene cytochrome c oxidase subunit 7A2 like pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Cellular biotinylated gem-associated protein 5 (GEMIN5) protein is incorporated into HIV-1 Gag virus-like particles PubMed

    Go to the HIV-1, Human Interaction Database

    • 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
    • Survival motor neuron (SMN) complex, conserved biosystem (from KEGG)
      Survival motor neuron (SMN) complex, conserved 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC142174, DKFZp586M1824

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    poly(A) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    snRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    mRNA splicing, via spliceosome TAS
    Traceable Author Statement
    more info
    PubMed 
    nuclear import TAS
    Traceable Author Statement
    more info
     
    protein complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    spliceosomal snRNP assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    spliceosomal snRNP assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Gemini of coiled bodies IEA
    Inferred from Electronic Annotation
    more info
     
    SMN complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    SMN-Sm protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     

    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_001252156.1NP_001239085.1  gem-associated protein 5 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK074066, AL117665, BC014147, BC036894, BC143724, BX329222, DA400244
      UniProtKB/Swiss-Prot
      Q8TEQ6
      UniProtKB/TrEMBL
      B7ZLC9, Q58EZ8
      Conserved Domains (4) summary
      smart00320
      Location:672709
      WD40; WD40 repeats
      COG2319
      Location:239730
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:428467
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:342667
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    2. NM_015465.4NP_056280.2  gem-associated protein 5 isoform 1

      See identical proteins and their annotated locations for NP_056280.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK074066, AL117665, BC014147, BC036894, BX329222, DA400244
      Consensus CDS
      CCDS4330.1
      UniProtKB/Swiss-Prot
      Q8TEQ6
      UniProtKB/TrEMBL
      Q58EZ8
      Related
      ENSP00000285873, OTTHUMP00000160692, ENST00000285873, OTTHUMT00000252507
      Conserved Domains (4) summary
      smart00320
      Location:673710
      WD40; WD40 repeats
      COG2319
      Location:240731
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:429468
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:343668
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      154887416..154938216 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      153699395..153750170 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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