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GDAP1 (ganglioside induced differentiation associated protein 1)

Identity

Other namesCMT4
CMT4A
CMTRIA
HGNC (Hugo) GDAP1
LocusID (NCBI) 54332
Atlas_Id 52818
Location 8q21.11
Location_base_pair Starts at 75262618 and ends at 75279335 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)GDAP1   15968
Cards
Entrez_Gene (NCBI)GDAP1  54332  ganglioside induced differentiation associated protein 1
GeneCards (Weizmann)GDAP1
Ensembl hg19 (Hinxton)ENSG00000104381 [Gene_View]  chr8:75262618-75279335 [Contig_View]  GDAP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000104381 [Gene_View]  chr8:75262618-75279335 [Contig_View]  GDAP1 [Vega]
ICGC DataPortalENSG00000104381
TCGA cBioPortalGDAP1
AceView (NCBI)GDAP1
Genatlas (Paris)GDAP1
WikiGenes54332
SOURCE (Princeton)GDAP1
Genomic and cartography
GoldenPath hg19 (UCSC)GDAP1  -     chr8:75262618-75279335 +  8q21.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GDAP1  -     8q21.11   [Description]    (hg38-Dec_2013)
EnsemblGDAP1 - 8q21.11 [CytoView hg19]  GDAP1 - 8q21.11 [CytoView hg38]
Mapping of homologs : NCBIGDAP1 [Mapview hg19]  GDAP1 [Mapview hg38]
OMIM214400   606598   607706   607831   608340   
Gene and transcription
Genbank (Entrez)AB551556 AB551557 AB551558 AK292572 AK295594
RefSeq transcript (Entrez)NM_001040875 NM_018972
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_008787 NT_008183 NW_004929339
Consensus coding sequences : CCDS (NCBI)GDAP1
Cluster EST : UnigeneHs.168950 [ NCBI ]
CGAP (NCI)Hs.168950
Alternative Splicing : Fast-db (Paris)GSHG0029091
Alternative Splicing GalleryENSG00000104381
Gene ExpressionGDAP1 [ NCBI-GEO ]     GDAP1 [ SEEK ]   GDAP1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TB36 (Uniprot)
NextProtQ8TB36  [Medical]  [Publications]
With graphics : InterProQ8TB36
Splice isoforms : SwissVarQ8TB36 (Swissvar)
Domaine pattern : Prosite (Expaxy)GST_CTER (PS50405)    GST_NTER (PS50404)   
Domains : Interpro (EBI)Glutathione-S-Trfase_C-like    Glutathione_S-Trfase_N    Thioredoxin-like_fold   
Related proteins : CluSTrQ8TB36
Domain families : Pfam (Sanger)GST_N_3 (PF13417)   
Domain families : Pfam (NCBI)pfam13417   
DMDM Disease mutations54332
Blocks (Seattle)Q8TB36
Human Protein AtlasENSG00000104381
Peptide AtlasQ8TB36
HPRD05963
IPIIPI00877014   IPI00290544   IPI00980842   
Protein Interaction databases
DIP (DOE-UCLA)Q8TB36
IntAct (EBI)Q8TB36
FunCoupENSG00000104381
BioGRIDGDAP1
IntegromeDBGDAP1
STRING (EMBL)GDAP1
Ontologies - Pathways
QuickGOQ8TB36
Ontology : AmiGOmitochondrial fission  nucleus  cytoplasm  mitochondrion  protein targeting to mitochondrion  mitochondrial fusion  membrane  integral component of mitochondrial outer membrane  response to retinoic acid  
Ontology : EGO-EBImitochondrial fission  nucleus  cytoplasm  mitochondrion  protein targeting to mitochondrion  mitochondrial fusion  membrane  integral component of mitochondrial outer membrane  response to retinoic acid  
Protein Interaction DatabaseGDAP1
DoCM (Curated mutations)GDAP1
Wikipedia pathwaysGDAP1
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerGDAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GDAP1
dbVarGDAP1
ClinVarGDAP1
1000_GenomesGDAP1 
Exome Variant ServerGDAP1
SNP (GeneSNP Utah)GDAP1
SNP : HGBaseGDAP1
Genetic variants : HAPMAPGDAP1
Genomic Variants (DGV)GDAP1 [DGVbeta]
Mutations
ICGC Data PortalGDAP1 
TCGA Data PortalGDAP1 
Tumor PortalGDAP1
Somatic Mutations in Cancer : COSMICGDAP1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)MITOchondrial DYNamics variation pages
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)8:75262618-75279335
CONAN: Copy Number AnalysisGDAP1 
Mutations and Diseases : HGMDGDAP1
OMIM214400    606598    607706    607831    608340   
MedgenGDAP1
NextProtQ8TB36 [Medical]
GENETestsGDAP1
Disease Genetic AssociationGDAP1
Huge Navigator GDAP1 [HugePedia]  GDAP1 [HugeCancerGEM]
snp3D : Map Gene to Disease54332
DGIdb (Drug Gene Interaction db)GDAP1
BioCentury BCIQGDAP1
General knowledge
Homologs : HomoloGeneGDAP1
Homology/Alignments : Family Browser (UCSC)GDAP1
Phylogenetic Trees/Animal Genes : TreeFamGDAP1
Chemical/Protein Interactions : CTD54332
Chemical/Pharm GKB GenePA28626
Clinical trialGDAP1
Cancer Resource (Charite)ENSG00000104381
Other databases
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
CoreMineGDAP1
GoPubMedGDAP1
iHOPGDAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 27 11:36:26 CEST 2015

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