Details for: GDAP1

Gene ID: 54332

Symbol: GDAP1

Ensembl ID: ENSG00000104381

Description: ganglioside induced differentiation associated protein 1

Associated with

Other Information

Genular Protein ID: 127529761

Symbol: GDAP1_HUMAN

Name: Ganglioside-induced differentiation-associated protein 1

UniProtKB Accession Codes:

Q8TB36 A8K957 E7FJF3 E7FJF4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 11 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 12 PDBsum 8 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 SASBDB 1 SFLD 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10217254

Title: Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene.

PubMed ID: 10217254

DOI: 10.1046/j.1471-4159.1999.0721781.x

PubMed ID: 20685671

Title: The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

PubMed ID: 20685671

DOI: 10.1136/jmg.2010.077909

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11743580

Title: The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.

PubMed ID: 11743580

DOI: 10.1038/ng798

PubMed ID: 15772096

Title: GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.

PubMed ID: 15772096

DOI: 10.1093/hmg/ddi121

PubMed ID: 16172208

Title: Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.

PubMed ID: 16172208

DOI: 10.1083/jcb.200507087

PubMed ID: 16857173

Title: Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase.

PubMed ID: 16857173

DOI: 10.1016/j.bbrc.2006.06.189

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 25621951

Title: USP30 and parkin homeostatically regulate atypical ubiquitin chains on mitochondria.

PubMed ID: 25621951

DOI: 10.1038/ncb3097

PubMed ID: 11743579

Title: Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.

PubMed ID: 11743579

DOI: 10.1038/ng796

PubMed ID: 12499475

Title: Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.

PubMed ID: 12499475

DOI: 10.1212/01.wnl.0000036272.36047.54

PubMed ID: 12868504

Title: Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.

PubMed ID: 12868504

DOI: 10.1016/s096089660200281x

PubMed ID: 12601710

Title: CMT4A: identification of a Hispanic GDAP1 founder mutation.

PubMed ID: 12601710

DOI: 10.1002/ana.10505

PubMed ID: 12566285

Title: Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.

PubMed ID: 12566285

DOI: 10.1093/brain/awg068

PubMed ID: 22206013

Title: The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

PubMed ID: 22206013

DOI: 10.1371/journal.pone.0029393

PubMed ID: 24627108

Title: Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.

PubMed ID: 24627108

DOI: 10.1007/s00415-014-7289-8

PubMed ID: 26525999

Title: GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.

PubMed ID: 26525999

DOI: 10.1016/j.nmd.2015.09.008

PubMed ID: 28244113

Title: Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.

PubMed ID: 28244113

DOI: 10.1111/cge.13002

Sequence Information:

  • Length: 358
  • Mass: 41346
  • Checksum: B1A61EE71918A28F
  • Sequence:
    • MAERQEEQRG SPPLRAEGKA DAEVKLILYH WTHSFSSQKV RLVIAEKALK CEEHDVSLPL 
SEHNEPWFMR LNSTGEVPVL IHGENIICEA TQIIDYLEQT FLDERTPRLM PDKESMYYPR 
VQHYRELLDS LPMDAYTHGC ILHPELTVDS MIPAYATTRI RSQIGNTESE LKKLAEENPD 
LQEAYIAKQK RLKSKLLDHD NVKYLKKILD ELEKVLDQVE TELQRRNEET PEEGQQPWLC 
GESFTLADVS LAVTLHRLKF LGFARRNWGN GKRPNLETYY ERVLKRKTFN KVLGHVNNIL 
ISAVLPTAFR VAKKRAPKVL GTTLVVGLLA GVGYFAFMLF RKRLGSMILA FRPRPNYF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.