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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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