• Gene id: 54332

Gene Summary

• Gene Symbol: GDAP1   Gene   UCSC   Ensembl
• Aliases: CMT4, CMT4A, CMTRIA
• Gene name: ganglioside induced differentiation associated protein 1
• Alternate names: ganglioside-induced differentiation-associated protein 1, Charcot-Marie-Tooth neuropathy 4A,
• Gene location: 8q21.11 (74350382: 74488871)     Exons: 8     NC_000008.11
• Gene summary(Entrez): This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-
• OMIM: 618647

Protein Summary

• Protein general information: Q8TB36  
  • Name: Ganglioside induced differentiation associated protein 1 (GDAP1)
  • Length: 358  
  • Mass: 41346
  • Tissue specificity: Highly expressed in whole brain and spinal cord. Predominant expression in central tissues of the nervous system not only in neurons but also in Schwann cells. {ECO
• Sequence:

  MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPLSEHNEPWFMRLNSTG
  EVPVLIHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPRVQHYRELLDSLPMDAYTHGCILHPELTVDS
  MIPAYATTRIRSQIGNTESELKKLAEENPDLQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQR
  RNEETPEEGQQPWLCGESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNIL
  ISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF

• Structural information:
  • Protein Domains: (24..10-)
    (/note="GST-N-terminal)
    (153..30-)
    (/note="GST-C-terminal")
  • Interpro: IPR034336  IPR010987  IPR036282  IPR040079  IPR004045   IPR036249  
  • Prosite: PS50405 PS50404
  • STRING: ENSP00000220822
• Other Databases: GeneCards:  GDAP1  Malacards:  GDAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008053	mitochondrial fusion	IMP	biological process
GO:0031307	integral component of mitochondrial outer membrane	IBA	cellular component
GO:0008053	mitochondrial fusion	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0007005	mitochondrion organization	IBA	biological process
GO:0006626	protein targeting to mitochondrion	IBA	biological process
GO:0000266	mitochondrial fission	IBA	biological process
GO:0000266	mitochondrial fission	IDA	biological process
GO:0031307	integral component of mitochondrial outer membrane	IDA	cellular component
GO:0006626	protein targeting to mitochondrion	IMP	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032526	response to retinoic acid	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0071305	cellular response to vitamin D	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease axonal type 2K	PMID:20232219
Charcot-Marie-Tooth disease axonal type 2K	PMID:18492089
Charcot-Marie-Tooth disease axonal type 2C	PMID:21365284
Charcot-Marie-Tooth disease type 4A	PMID:11743580
Charcot-Marie-Tooth disease type 4A	PMID:11743579
Charcot-Marie-Tooth disease type 4A	PMID:12499475
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R