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

Gene ID: 14545, updated on 2-Nov-2024

Summary

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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, Nov 2024]
Expression
Biased expression in CNS E18 (RPKM 23.4), cerebellum adult (RPKM 17.4) and 5 other tissues See more
Orthologs
human all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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

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Related articles in PubMed

  1. Effective therapeutic strategies in a preclinical mouse model of Charcot-Marie-Tooth disease. Nuevo-Tapioles C, et al. Hum Mol Genet, 2021 Nov 30. PMID 34274972, Free PMC Article
  2. Mitochondria and calcium defects correlate with axonal dysfunction in GDAP1-related Charcot-Marie-Tooth mouse model. Civera-Tregón A, et al. Neurobiol Dis, 2021 May. PMID 33582224
  3. Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1. Fernandez-Lizarbe S, et al. Exp Neurol, 2019 Oct. PMID 31271761
  4. Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy. Barneo-Muñoz M, et al. PLoS Genet, 2015 Apr. PMID 25860513, Free PMC Article
  5. Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease. Pedrola L, et al. J Cell Mol Med, 2008 Apr. PMID 18021315, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease.
    Title: Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease.
  2. absence of GDAP1 induces a peripheral neuropathy with loss of motor neurons, mitochondrial defects and abnormal calcium homeostasis.
    Title: Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy.
  3. Members of the GDAP1 family are responsive and protective against stress associated with increased levels of oxidized glutathione.
    Title: The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease.
  4. Cell expression of Gdap1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease are reported.
    Title: Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease.
Submit: New GeneRIF Correction

Variation

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Alleles

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

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

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Preferred Names
ganglioside-induced differentiation-associated protein 1

NCBI Reference Sequences (RefSeq)

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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_001420178.1 → NP_001407107.1  ganglioside-induced differentiation-associated protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127359

  2. NM_010267.4 → NP_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:179 → 289
    GST_C_GDAP1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1
    cd03052
    Location:26 → 98
    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_036160394.1 → XP_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:179 → 289
    GST_C_GDAP1; C-terminal, alpha helical domain of Ganglioside-induced differentiation-associated protein 1
    cd03052
    Location:26 → 98
    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 ...
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O88741.1 GenPept UniProtKB/Swiss-Prot:O88741

Gene LinkOut

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