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    gemin5 gem (nuclear organelle) associated protein 5 [ Danio rerio (zebrafish) ]

    Gene ID: 799538, updated on 2-Nov-2024

    Summary

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    Official Symbol
    gemin5provided by ZNC
    Official Full Name
    gem (nuclear organelle) associated protein 5provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-031112-9
    See related
    Ensembl:ENSDARG00000079257 AllianceGenome:ZFIN:ZDB-GENE-031112-9
    Gene type
    protein coding
    RefSeq status
    MODEL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    cb926
    Summary
    Predicted to enable mRNA 3'-UTR binding activity. Acts upstream of or within T cell differentiation and neuromast regeneration. Predicted to be part of SMN complex. Predicted to be active in nucleus. Is expressed in several structures, including alar plate midbrain region; brain; immature eye; liver; and segmental plate. Used to study cerebellar ataxia. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with cerebellar atrophy and motor dysfunction. Orthologous to human GEMIN5 (gem nuclear organelle associated protein 5). [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See gemin5 in Genome Data Viewer
    Location:
    chromosome: 21
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 21 NC_007132.7 (36396764..36440069)
    105 previous assembly GRCz10 (GCF_000002035.5) 21 NC_007132.6 (36711571..36754887)

    Chromosome 21 - NC_007132.7Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC137488840 Neighboring gene mitochondrial ribosomal protein L22 Neighboring gene CCR4-NOT transcription complex, subunit 8 Neighboring gene WW and C2 domain containing 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy. Saida K, et al. Clin Genet, 2021 Dec. PMID 34569062
    2. Survival motor neuron affects plastin 3 protein levels leading to motor defects. Hao le T, et al. J Neurosci, 2012 Apr 11. PMID 22496553, Free PMC Article
    3. A subset of SMN complex members have a specific role in tissue regeneration via ERBB pathway-mediated proliferation. Pei W, et al. NPJ Regen Med, 2020. PMID 32218991, Free PMC Article
    4. Guided genetic screen to identify genes essential in the regeneration of hair cells and other tissues. Pei W, et al. NPJ Regen Med, 2018. PMID 29872546, Free PMC Article
    5. Genetic landscape of T cells identifies synthetic lethality for T-ALL. O'Meara CP, et al. Commun Biol, 2021 Oct 20. PMID 34671088, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables mRNA 3'-UTR binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within T cell differentiation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within T cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neuromast regeneration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spliceosomal snRNP assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within tissue regeneration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of SMN complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    gem-associated protein 5

    NCBI Reference Sequences (RefSeq)

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    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007132.7 Reference GRCz11 Primary Assembly

      Range
      36396764..36440069
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_001339844.8 → XP_001339880.4  gem-associated protein 5 isoform X1

      UniProtKB/TrEMBL
      A0A8M1Q7H4, E9QH84
      Related
      ENSDARP00000113067.1, ENSDART00000137309.2
      Conserved Domains (3) summary
      COG2319
      Location:281 → 710
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:102 → 139
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:47 → 391
      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. XM_009295614.4 → XP_009293889.1  gem-associated protein 5 isoform X2

      UniProtKB/TrEMBL
      A0A8M3AX38
      Conserved Domains (3) summary
      COG2319
      Location:281 → 710
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:102 → 139
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:47 → 391
      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 ...
    Nucleotide Protein Strain
    Heading Accession and Version

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