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Aliases for GDAP1 Gene

Aliases for GDAP1 Gene

  • Ganglioside Induced Differentiation Associated Protein 1 2 3
  • Charcot-Marie-Tooth Neuropathy 4A 2 3
  • CMTRIA 3 6
  • CMT4A 3 6
  • Ganglioside-Induced Differentiation-Associated Protein 1 3
  • Ganglioside Differentiation Associated Protein 1 3
  • CMT2K 6
  • CMT4 3

External Ids for GDAP1 Gene

Previous Symbols for GDAP1 Gene

  • CMT4A

Summaries for GDAP1 Gene

Entrez Gene Summary for GDAP1 Gene

  • 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-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]

GeneCards Summary for GDAP1 Gene

GDAP1 (Ganglioside Induced Differentiation Associated Protein 1) is a Protein Coding gene. Diseases associated with GDAP1 include charcot-marie-tooth disease, axonal, with vocal cord paresis and charcot-marie-tooth disease, type 4a. Among its related pathways are NgR-p75(NTR)-Mediated Signaling and Guidance Cues and Growth Cone Motility. An important paralog of this gene is GDAP1L1.

UniProtKB/Swiss-Prot for GDAP1 Gene

  • Regulates the mitochondrial network by promoting mitochondrial fission.

Gene Wiki entry for GDAP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GDAP1 Gene

Genomics for GDAP1 Gene

Genomic Location for GDAP1 Gene

Start:
74,321,130 bp from pter
End:
74,488,872 bp from pter
Size:
167,743 bases
Orientation:
Plus strand

Genomic View for GDAP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GDAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GDAP1 Gene

Regulatory Elements for GDAP1 Gene

Proteins for GDAP1 Gene

  • Protein details for GDAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TB36-GDAP1_HUMAN
    Recommended name:
    Ganglioside-induced differentiation-associated protein 1
    Protein Accession:
    Q8TB36
    Secondary Accessions:
    • A8K957
    • E7FJF3
    • E7FJF4

    Protein attributes for GDAP1 Gene

    Size:
    358 amino acids
    Molecular mass:
    41346 Da
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for GDAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GDAP1 Gene

Proteomics data for GDAP1 Gene at MOPED

Post-translational modifications for GDAP1 Gene

  • Ubiquitinated by PARK2 during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GDAP1 Gene

No data available for DME Specific Peptides for GDAP1 Gene

Domains for GDAP1 Gene

UniProtKB/Swiss-Prot:

GDAP1_HUMAN
Domain:
  • Contains 1 GST C-terminal domain.:
    • Q8TB36
  • Contains 1 GST N-terminal domain.:
    • Q8TB36
Family:
  • Belongs to the GST superfamily.:
    • Q8TB36
genes like me logo Genes that share domains with GDAP1: view

No data available for Gene Families for GDAP1 Gene

Function for GDAP1 Gene

Molecular function for GDAP1 Gene

UniProtKB/Swiss-Prot Function: Regulates the mitochondrial network by promoting mitochondrial fission.

Gene Ontology (GO) - Molecular Function for GDAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with GDAP1: view

Phenotypes for GDAP1 Gene

GenomeRNAi human phenotypes for GDAP1:
genes like me logo Genes that share phenotypes with GDAP1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for GDAP1 Gene

Localization for GDAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GDAP1 Gene

Mitochondrion outer membrane; Multi-pass membrane protein. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GDAP1 Gene COMPARTMENTS Subcellular localization image for GDAP1 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for GDAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0016020 membrane IDA 19946888
GO:0031307 integral component of mitochondrial outer membrane IDA 15772096
genes like me logo Genes that share ontologies with GDAP1: view

Pathways for GDAP1 Gene

genes like me logo Genes that share pathways with GDAP1: view

Pathways by source for GDAP1 Gene

Interacting Proteins for GDAP1 Gene

Gene Ontology (GO) - Biological Process for GDAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000266 mitochondrial fission IDA 15772096
GO:0006626 protein targeting to mitochondrion IMP 15772096
GO:0008053 mitochondrial fusion IMP 21753178
GO:0008219 cell death --
GO:0032526 response to retinoic acid IEA --
genes like me logo Genes that share ontologies with GDAP1: view

Compounds for GDAP1 Gene

(1) Novoseek inferred chemical compound relationships for GDAP1 Gene

Compound -log(P) Hits PubMed IDs
gsts 47.5 3
genes like me logo Genes that share compounds with GDAP1: view

Transcripts for GDAP1 Gene

Unigene Clusters for GDAP1 Gene

Ganglioside induced differentiation associated protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GDAP1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1: -
SP2: - -
SP3:
SP4: -

Relevant External Links for GDAP1 Gene

GeneLoc Exon Structure for
GDAP1
ECgene alternative splicing isoforms for
GDAP1

Expression for GDAP1 Gene

mRNA expression in normal human tissues for GDAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GDAP1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (4.7) and Brain - Anterior cingulate cortex (BA24) (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GDAP1 Gene

SOURCE GeneReport for Unigene cluster for GDAP1 Gene Hs.168950

mRNA Expression by UniProt/SwissProt for GDAP1 Gene

Q8TB36-GDAP1_HUMAN
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.
genes like me logo Genes that share expressions with GDAP1: view

Orthologs for GDAP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GDAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GDAP1 36
  • 99.53 (n)
  • 99.72 (a)
GDAP1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GDAP1 36
  • 93.48 (n)
  • 96.93 (a)
GDAP1 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GDAP1 36
  • 95.34 (n)
  • 96.93 (a)
GDAP1 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gdap1 36
  • 90.88 (n)
  • 93.85 (a)
Gdap1 16
Gdap1 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GDAP1 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 58 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Gdap1 36
  • 90.22 (n)
  • 92.74 (a)
chicken
(Gallus gallus)
Aves GDAP1 36
  • 78.2 (n)
  • 84.75 (a)
GDAP1 37
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GDAP1 37
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gdap1 36
  • 74.78 (n)
  • 84.57 (a)
zebrafish
(Danio rerio)
Actinopterygii gdap1 36
  • 72.19 (n)
  • 79.06 (a)
gdap1 37
  • 68 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006132 36
  • 40.49 (n)
  • 29.69 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4623 36
  • 43.64 (n)
  • 30.91 (a)
CG4623 37
  • 28 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G77290 36
  • 44.16 (n)
  • 34.2 (a)
rice
(Oryza sativa)
Liliopsida Os04g0435500 36
  • 44.16 (n)
  • 29.87 (a)
Species with no ortholog for GDAP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GDAP1 Gene

ENSEMBL:
Gene Tree for GDAP1 (if available)
TreeFam:
Gene Tree for GDAP1 (if available)

Paralogs for GDAP1 Gene

Paralogs for GDAP1 Gene

Selected SIMAP similar genes for GDAP1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with GDAP1: view

Variants for GDAP1 Gene

Sequence variations from dbSNP and Humsavar for GDAP1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs1135715 -- 74,364,724(+) TGCCC(A/G)CACAT utr-variant-3-prime, nc-transcript-variant
rs3739345 -- 74,351,041(+) GGGTG(A/T)CTGTT intron-variant
rs3780013 -- 74,353,687(+) AGAAC(C/T)GCAGA intron-variant
rs3780014 -- 74,360,052(+) AATGA(C/T)GAGTG intron-variant
rs3832592 -- 74,362,097(+) TACAC(-/AT)GTTAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GDAP1 Gene

Variant ID Type Subtype PubMed ID
nsv891014 CNV Loss 21882294

Relevant External Links for GDAP1 Gene

HapMap Linkage Disequilibrium report
GDAP1
Human Gene Mutation Database (HGMD)
GDAP1
Locus Specific Mutation Databases (LSDB)
GDAP1

Disorders for GDAP1 Gene

(4) OMIM Diseases for GDAP1 Gene (606598)

UniProtKB/Swiss-Prot

GDAP1_HUMAN
  • Charcot-Marie-Tooth disease 4A (CMT4A) [MIM:214400]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4A is a severe form characterized by early age of onset and rapid progression leading to inability to walk in late childhood or adolescence. {ECO:0000269 PubMed:11743579, ECO:0000269 PubMed:12499475, ECO:0000269 PubMed:12566285, ECO:0000269 PubMed:12601710}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (CMT2RV) [MIM:607706]: A form of Charcot-Marie-Tooth disease characterized by the association of axonal neuropathy with vocal cord paresis. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. {ECO:0000269 PubMed:12868504}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2K (CMT2K) [MIM:607831]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Charcot-Marie-Tooth disease type 2K onset is in early childhood (younger than 3 years). This phenotype is characterized by foot deformities, kyphoscoliosis, distal limb muscle weakness and atrophy, areflexia, and diminished sensation in the lower limbs. Weakness in the upper limbs is observed in the first decade, with clawing of the fingers. Inheritance can be autosomal dominant or recessive. {ECO:0000269 PubMed:22206013}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease, recessive, intermediate type, A (CMTRIA) [MIM:608340]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for GDAP1 Gene

(6) Novoseek inferred disease relationships for GDAP1 Gene

Disease -log(P) Hits PubMed IDs
charcot-marie-tooth disease 95.1 32
sensory neuropathy 75.7 2
demyelination 64.2 3
clubfoot 50.4 1
paralysis 48.2 5

Relevant External Links for GDAP1

GeneTests
GDAP1
GeneReviews
GDAP1
Genetic Association Database (GAD)
GDAP1
Human Genome Epidemiology (HuGE) Navigator
GDAP1
genes like me logo Genes that share disorders with GDAP1: view

Publications for GDAP1 Gene

  1. Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. (PMID: 12566285) Senderek J. … Schroeder J.M. (Brain 2003) 3 4 23 49
  2. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. (PMID: 11743579) Baxter R.V. … Vance J.M. (Nat. Genet. 2002) 2 3 4 23
  3. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. (PMID: 12499475) Nelis E. … Timmerman V. (Neurology 2002) 3 4 23
  4. Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. (PMID: 12868504) Azzedine H. … Dubourg O. (Neuromuscul. Disord. 2003) 3 4 23
  5. CMT4A: identification of a Hispanic GDAP1 founder mutation. (PMID: 12601710) Boerkoel C.F. … Lupski J.R. (Ann. Neurol. 2003) 3 4 23

Products for GDAP1 Gene

Sources for GDAP1 Gene

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