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Aliases for GDAP1 Gene

Aliases for GDAP1 Gene

  • Ganglioside Induced Differentiation Associated Protein 1 2 3 5
  • Charcot-Marie-Tooth Neuropathy 4A 2 3
  • Ganglioside-Induced Differentiation-Associated Protein 1 3
  • CMTRIA 3
  • CMT4A 3
  • CMT4 3

External Ids for GDAP1 Gene

Previous HGNC Symbols for GDAP1 Gene

  • CMT4A

Previous GeneCards Identifiers for GDAP1 Gene

  • GC08P075203
  • GC08P074985
  • GC08P075312
  • GC08P075276
  • GC08P075425
  • GC08P070753
  • GC08P075233

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, Type 4A and Charcot-Marie-Tooth Disease, Axonal, Type 2K. Among its related pathways are Guidance Cues and Growth Cone Motility and NgR-p75(NTR)-Mediated Signaling. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GDAP1 Gene

Genomics for GDAP1 Gene

Regulatory Elements for GDAP1 Gene

Enhancers for GDAP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G074349 1.1 ENCODE 15.6 +29.4 29410 1.5 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 GDAP1 ENSG00000253596 GC08P074377
GH08G074273 1 Ensembl ENCODE dbSUPER 11.1 -46.9 -46853 1.5 CTCF ZNF316 EMSY MAFK GDAP1 JPH1 PIR38324 GC08P074237
GH08G074250 1 ENCODE dbSUPER 10.3 -70.4 -70396 1.7 JUN INSM2 FEZF1 FOSL1 ZSCAN5C FOSL2 ZNF600 FOS TCF7L2 ZNF501 JPH1 GDAP1 GC08P074237 PIR38324
GH08G074292 0.8 dbSUPER 12.1 -23.4 -23418 9.8 CEBPG CBX5 EED NFE2 ETV6 IKZF2 CREM BHLHE40 HLF NR2F1 JPH1 GDAP1 ENSG00000253596 PIR38324
GH08G074280 0.9 Ensembl ENCODE dbSUPER 10.6 -39.6 -39553 1.6 ZFHX2 EGR2 JPH1 GDAP1 PIR38324 GC08P074237
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GDAP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GDAP1 Gene

Chromosome:
8
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

Genes around GDAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GDAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GDAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for GDAP1 Gene

  • Ubiquitinated by PARK2 during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.
  • Ubiquitination at Lys50, Lys172, isoforms=2173, isoforms=2188, Lys190, isoforms=2206, isoforms=2207, and Lys214
  • Modification sites at PhosphoSitePlus

Other Protein References for GDAP1 Gene

No data available for DME Specific Peptides for GDAP1 Gene

Domains & Families for GDAP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TB36

UniProtKB/Swiss-Prot:

GDAP1_HUMAN :
  • Belongs to the GST superfamily.
Family:
  • Belongs to the GST superfamily.
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.
genes like me logo Genes that share phenotypes with GDAP1: view

Human Phenotype Ontology for GDAP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GDAP1 Gene

MGI Knock Outs for GDAP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GDAP1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
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 IEA --
GO:0005739 mitochondrion IDA --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with GDAP1: view

Pathways & Interactions for GDAP1 Gene

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

Pathways by source 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:0032526 response to retinoic acid IEA --
GO:0071305 cellular response to vitamin D IEA --
genes like me logo Genes that share ontologies with GDAP1: view

No data available for SIGNOR curated interactions for GDAP1 Gene

Drugs & Compounds for GDAP1 Gene

(1) Additional Compounds for GDAP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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) (x4.7) and Brain - Anterior cingulate cortex (BA24) (x4.7).

Protein differential expression in normal tissues from HIPED for GDAP1 Gene

This gene is overexpressed in Brain (19.9), Frontal cortex (19.7), Fetal Brain (10.8), and Retina (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GDAP1 Gene



Protein tissue co-expression partners for GDAP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GDAP1 Gene:

GDAP1

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.

Evidence on tissue expression from TISSUES for GDAP1 Gene

  • Nervous system(4.9)
  • Blood(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GDAP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • head
  • larynx
  • neck
  • vocal cord
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with GDAP1: view

Primer Products

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 34 35
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia GDAP1 34 35
  • 95.34 (n)
cow
(Bos Taurus)
Mammalia GDAP1 34 35
  • 93.48 (n)
mouse
(Mus musculus)
Mammalia Gdap1 34 16 35
  • 90.88 (n)
rat
(Rattus norvegicus)
Mammalia Gdap1 34
  • 90.22 (n)
oppossum
(Monodelphis domestica)
Mammalia GDAP1 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 58 (a)
ManyToMany
chicken
(Gallus gallus)
Aves GDAP1 34 35
  • 78.2 (n)
lizard
(Anolis carolinensis)
Reptilia GDAP1 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gdap1 34
  • 74.78 (n)
zebrafish
(Danio rerio)
Actinopterygii gdap1 34 35
  • 72.19 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4623 34 35
  • 43.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006132 34
  • 40.49 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G77290 34
  • 44.16 (n)
rice
(Oryza sativa)
Liliopsida Os04g0435500 34
  • 44.16 (n)
Species where no ortholog for GDAP1 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs104894076 Pathogenic, Charcot-Marie-Tooth disease 4A (CMT4A) [MIM:214400] 74,360,308(+) GATTC(A/G/T)TAGTA intron-variant, nc-transcript-variant, reference, missense
rs28937906 Pathogenic, Charcot-Marie-Tooth disease, recessive, intermediate type, A (CMTRIA) [MIM:608340] 74,364,134(+) ACGAG(C/T)GTGTC intron-variant, nc-transcript-variant, reference, missense
rs375431837 Charcot-Marie-Tooth disease 2K (CMT2K) [MIM:607831] 74,364,135(+) CGAGC(A/G)TGTCT intron-variant, nc-transcript-variant, reference, missense
VAR_017184 Charcot-Marie-Tooth disease 4A (CMT4A) [MIM:214400]
VAR_017187 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (CMT2RV) [MIM:607706]

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

Variant ID Type Subtype PubMed ID
nsv1016431 CNV gain 25217958
nsv1032322 CNV gain 25217958

Variation tolerance for GDAP1 Gene

Residual Variation Intolerance Score: 21.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.82; 17.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GDAP1 Gene

Human Gene Mutation Database (HGMD)
GDAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GDAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GDAP1 Gene

Disorders for GDAP1 Gene

MalaCards: The human disease database

(36) MalaCards diseases for GDAP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 4a
  • charcot-marie-tooth disease type 4a
charcot-marie-tooth disease, axonal, type 2k
  • charcot-marie-tooth disease, axonal, with vocal cord paresis
charcot-marie-tooth disease, recessive intermediate, a
  • charcot-marie-tooth disease, recessive intermediate a
charcot-marie-tooth disease, axonal, with vocal cord paresis
  • charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive
charcot-marie-tooth disease type 2k
  • charcot-marie-tooth disease, axonal, type 2k
- elite association - COSMIC cancer census association via MalaCards
Search GDAP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GDAP1_HUMAN
  • 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 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:12601710, ECO:0000269 PubMed:15772096, ECO:0000269 PubMed:16172208}. 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, ECO:0000269 PubMed:16172208}. 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. {ECO:0000269 PubMed:12499475, ECO:0000269 PubMed:12566285, ECO:0000269 PubMed:15772096, ECO:0000269 PubMed:16172208}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GDAP1

Genetic Association Database (GAD)
GDAP1
Human Genome Epidemiology (HuGE) Navigator
GDAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GDAP1
genes like me logo Genes that share disorders with GDAP1: view

No data available for Genatlas for GDAP1 Gene

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 22 46 64
  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 22 64
  3. Functional characterisation of ganglioside-induced differentiation- associated protein 1 as a glutathione transferase. (PMID: 16857173) Shield A.J. … Board P.G. (Biochem. Biophys. Res. Commun. 2006) 3 4 22 64
  4. Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene. (PMID: 15019704) Stojkovic T. … Vermersch P. (Neuromuscul. Disord. 2004) 3 22 46 64
  5. CMT4A: identification of a Hispanic GDAP1 founder mutation. (PMID: 12601710) Boerkoel C.F. … Lupski J.R. (Ann. Neurol. 2003) 3 4 22 64

Products for GDAP1 Gene

Sources for GDAP1 Gene

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