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

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, 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

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_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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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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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)

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

Status: VALIDATED

Source sequence(s)

AC127359
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

NC_000067.7 Reference GRCm39 C57BL/6J

Range

17202028..17234513

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...