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FLASH GENE

Symbol

GDAP1

contributors: mct - updated : 30-08-2013

HGNC name	ganglioside-induced differentiation-associated protein 1
HGNC id	15968

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMT2K Charcot-Marie-Tooth disease, axonal, type 2K CMT4A Charcot-Marie-Tooth disease, type 4A
Location	8q21.11      Physical location : 75.262.617 - 75.279.333
Synonym symbol(s)	CMTRIA, CMT2K5

DNA

TYPE	functioning gene
STRUCTURE	16.72 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF
	Binding site
text structure	promoter region appeared as a TATA-less, GC-rich region without canonical transcription initiation site
	consensus YY1 binding site in the GDAP1 core promoter

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_018972 6 - 3899 NP_061845 - 358 - 2009 19720140 NM_001040875 6 - 3734 NP_001035808 - 290 - 2009 19720140

EXPRESSION

Type	ubiquitous

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly Homo sapiens Nervous brain       highly Homo sapiens   ganglia sensory ganglia dorsal root   highly Homo sapiens   spinal cord anterior horn     highly Homo sapiens   spinal cord posterior horn     highly Homo sapiens Reproductive female system ovary     highly Homo sapiens Respiratory respiratory tract larynx     highly Homo sapiens Urinary kidney       highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous mitral cell Homo sapiens Nervous neuron Homo sapiens Nervous Purkinje cell Homo sapiens Nervous pyramidal cell Homo sapiens Nervous Schwann cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	glutathione S-transferase N terminal domain
	transmembrane domains necessary for the localization in mitochondria
	two putative transmembrane domains
	GST-like domain, glutathione S-transferase C terminal domain

secondary structure

alpha helical domain 2

HOMOLOGY

interspecies

homolog to murine Gdap1

Homologene

FAMILY

GST superfamily

CATEGORY

signaling

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,outer
	intracellular,cytoplasm,organelle,membrane
text	located in the outer mitochondrial membrane and induces fragmentation of mitochondria

basic FUNCTION	may be functioning in a signal transduction pathway responsible for ganglioside-induced neurite
	differentiation
	may be related to the maintenance of the mitochondrial network
	may have a role in the fission pathway of the mitochondrial dynamics
	mitochondrial fission factor whose activity is dependent on the fission factors CRMP1 and FIS1
	promotes fission without increasing the risk of apoptosis
	essential for the viability of cells in the peripheral nervous system
	novel function of GDAP1 in the defense against oxidative stress
	might act as a glutathione sensor, which transmits information about the cytosolic glutathione content through its GST-like domains to the mitochondria, leading to changes in mitochondrial form and function
	tail-anchored protein of mitochondria and induces mitochondrial fragmentation
	regulates mitochondrial and peroxisomal fission by a similar mechanism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	neuronal development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with YY1 (YY1 acts to induce GDAP1 gene expression, decreasing YY1 levels should repress it)
	interacts with the vesicle-organelle trafficking proteins RAB6B, suggesting that GDAP1 may participate in the mitochondrial movement within the cell

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMT4A , CMT2K

related resource

Mutation Database of Inherited Peripheral Neuropathies

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS