InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GDAP1

Summary

InnateDB Protein

IDBP-25899.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GDAP1

Protein Name

ganglioside-induced differentiation-associated protein 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000220822

InnateDB Gene

IDBG-25897 (GDAP1)

Protein Structure

UniProt Annotation

Function

Regulates the mitochondrial network by promoting mitochondrial fission. {ECO:0000269PubMed:16172208}.

Subcellular Localization

Mitochondrion outer membrane; Multi-pass membrane protein. Cytoplasm {ECO:0000250}.

Disease Associations

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:0000269PubMed:11743579, ECO:0000269PubMed:12499475, ECO:0000269PubMed:12566285, ECO:0000269PubMed: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:0000269PubMed: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:0000269PubMed: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.

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. {ECO:0000269PubMed:11743580, ECO:0000269PubMed:16172208}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.

Experimentally validated
Total	11 [view]
Protein-Protein	8 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0000266	mitochondrial fission
GO:0006626	protein targeting to mitochondrion
GO:0008219	cell death
GO:0032526	response to retinoic acid

Cellular Component

GO:0005634	nucleus
GO:0016020	membrane
GO:0031307	integral component of mitochondrial outer membrane

Protein Structure and Domains

PDB ID

InterPro

IPR004045 Glutathione S-transferase, N-terminal
IPR004046 Glutathione S-transferase, C-terminal
IPR010987 Glutathione S-transferase, C-terminal-like
IPR012336 Thioredoxin-like fold

PFAM