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

    Gene ID: 25929, updated on 10-Dec-2024

    Summary

    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; AllianceGenome:HGNC:20043
    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
    NEDCAM; 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]
    Expression
    Ubiquitous expression in testis (RPKM 4.9), ovary (RPKM 4.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GEMIN5 in Genome Data Viewer
    Location:
    5q33.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (154887411..154938211, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (155421376..155472109, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (154266971..154317771, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:154237483-154237986 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:154237987-154238489 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:154238993-154239495 Neighboring gene CCR4-NOT transcription complex subunit 8 Neighboring gene uncharacterized LOC124901119 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:154287897-154288396 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:154317267-154317858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23491 Neighboring gene mitochondrial ribosomal protein L22 Neighboring gene cytochrome c oxidase subunit 7A2 like pseudogene

    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?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC142174, DKFZp586M1824

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA 7-methylguanosine cap binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA binding HDA PubMed 
    enables U1 snRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables U4 snRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables U4atac snRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables mRNA 3'-UTR binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables mRNA 3'-UTR binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ribosome binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables snRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in mRNA splicing, via spliceosome TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of translation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 
    involved_in translation IEA
    Inferred from Electronic Annotation
    more info
     
    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-Gemin2 complex IDA
    Inferred from Direct Assay
    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 membrane HDA PubMed 
    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
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    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_052854.1 RefSeqGene

      Range
      5006..55806
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001252156.2NP_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)
      AC008421, AK074066, AL117665, BC014147, BC036894, BC143724, BX329222, DA400244
      UniProtKB/TrEMBL
      B7ZLC9
      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_015465.5NP_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)
      AC008421, AK074066, AL117665, BC014147, BC036894, BX329222, DA400244
      Consensus CDS
      CCDS4330.1
      UniProtKB/Swiss-Prot
      Q14CV0, Q8TEQ6, Q8WWV4, Q969W4, Q9H9K3, Q9UFI5
      UniProtKB/TrEMBL
      B7ZLC9
      Related
      ENSP00000285873.6, ENST00000285873.8
      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: 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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      154887411..154938211 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      155421376..155472109 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)