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    Gdap1 ganglioside-induced differentiation-associated-protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 14545, updated on 9-Dec-2024

    Summary

    Official Symbol
    Gdap1provided by MGI
    Official Full Name
    ganglioside-induced differentiation-associated-protein 1provided by MGI
    Primary source
    MGI:MGI:1338002
    See related
    Ensembl:ENSMUSG00000025777 AllianceGenome:MGI:1338002
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Acts upstream of or within response to retinoic acid. Predicted to be located in cytosol and mitochondrion. Predicted to be active in mitochondrial outer membrane. Is expressed in several structures, including future brain; ileum; male reproductive gland or organ; and nervous system. Used to study Charcot-Marie-Tooth disease axonal type 2K. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease axonal type 2C; Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease recessive intermediate A; and Charcot-Marie-Tooth disease type 4A. Orthologous to human GDAP1 (ganglioside induced differentiation associated protein 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in CNS E18 (RPKM 23.4), cerebellum adult (RPKM 17.4) and 5 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Gdap1 in Genome Data Viewer
    Location:
    1 A3; 1 5.21 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (17202028..17234513)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (17145373..17164271)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene junctophilin 1 Neighboring gene STARR-seq mESC enhancer starr_00353 Neighboring gene predicted gene, 46085 Neighboring gene predicted gene, 31982 Neighboring gene STARR-seq mESC enhancer starr_00354 Neighboring gene STARR-seq mESC enhancer starr_00355 Neighboring gene predicted gene 28784 Neighboring gene predicted gene, 39597

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (7)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in cellular response to vitamin D IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial fission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial fission ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitochondrial fission ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitochondrial fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial fusion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial fusion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein targeting to mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein targeting to mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein targeting to mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within response to retinoic acid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial outer membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial outer membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    ganglioside-induced differentiation-associated protein 1

    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.

    mRNA and Protein(s)

    1. NM_001420178.1NP_001407107.1  ganglioside-induced differentiation-associated protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC127359
      UniProtKB/TrEMBL
      Q3UEX4
    2. NM_010267.4NP_034397.1  ganglioside-induced differentiation-associated protein 1 isoform 1

      See identical proteins and their annotated locations for NP_034397.1

      Status: VALIDATED

      Source sequence(s)
      AC127359
      Consensus CDS
      CCDS14834.1
      UniProtKB/Swiss-Prot
      O88741, Q8C7Q5, Q9CTN2
      UniProtKB/TrEMBL
      Q3UEX4
      Related
      ENSMUSP00000026879.8, ENSMUST00000026879.8
      Conserved Domains (2) summary
      cd10303
      Location:179289
      GST_C_GDAP1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1
      cd03052
      Location:2698
      GST_N_GDAP1; GST_N family, Ganglioside-induced differentiation-associated protein 1 (GDAP1) subfamily; GDAP1 was originally identified as a highly expressed gene at the differentiated stage of GD3 synthase-transfected cells. More recently, mutations in GDAP1 have ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      17202028..17234513
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036160394.1XP_036016287.1  ganglioside-induced differentiation-associated protein 1 isoform X1

      UniProtKB/Swiss-Prot
      O88741, Q8C7Q5, Q9CTN2
      UniProtKB/TrEMBL
      Q3UEX4
      Conserved Domains (2) summary
      cd10303
      Location:179289
      GST_C_GDAP1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1
      cd03052
      Location:2698
      GST_N_GDAP1; GST_N family, Ganglioside-induced differentiation-associated protein 1 (GDAP1) subfamily; GDAP1 was originally identified as a highly expressed gene at the differentiated stage of GD3 synthase-transfected cells. More recently, mutations in GDAP1 have ...