GDAP1 (ganglioside induced differentiation associated protein 1)

2010-03-01  

Identity

HGNC
GDAP1
LOCATION
8q21.11
LOCUSID
54332
ALIAS
CMT4,CMT4A,CMTRIA

Other Information

Locus ID:

NCBI: 54332
MIM: 606598
HGNC: 15968
Ensembl: ENSG00000104381

Variants:

dbSNP: 54332
ClinVar: 54332
TCGA: ENSG00000104381
COSMIC: GDAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104381ENST00000220822Q8TB36
ENSG00000104381ENST00000434412Q8TB36
ENSG00000104381ENST00000522568E5RGI2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
157720962005GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.34
197827512009GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance.29
219653002012Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.28
236287622013Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission.26
208498492011Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.24
124994752002Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.23
235425102013Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry.20
168571732006Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase.17
217531782011Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.16
193402932009Targeting and function of the mitochondrial fission factor GDAP1 are dependent on its tail-anchor.15

Citation

Dessen P

GDAP1 (ganglioside induced differentiation associated protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-03-01

Online version: http://atlasgeneticsoncology.org/gene/52818/gdap1