InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ALS2

Summary

InnateDB Protein

IDBP-78755.6

Last Modified

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

Gene Symbol

ALS2

Protein Name

amyotrophic lateral sclerosis 2 (juvenile)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000264276

InnateDB Gene

IDBG-78753 (ALS2)

Protein Structure

UniProt Annotation

Function

May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity). {ECO:0000250}.

Subcellular Localization

Disease Associations

Amyotrophic lateral sclerosis 2 (ALS2) [MIM:205100]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. {ECO:0000269PubMed:11586298}. Note=The disease is caused by mutations affecting the gene represented in this entry.Juvenile primary lateral sclerosis (JPLS) [MIM:606353]: A neurodegenerative disorder which is closely related to but clinically distinct from amyotrophic lateral sclerosis. It is a progressive paralytic disorder which results from dysfunction of the upper motor neurons while the lower neurons are unaffected. {ECO:0000269PubMed:11586297}. Note=The disease is caused by mutations affecting the gene represented in this entry.Infantile-onset ascending spastic paralysis (IAHSP) [MIM:607225]: Characterized by progressive spasticity and weakness of limbs. {ECO:0000269PubMed:12145748}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	12 [view]
Protein-Protein	8 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005085	guanyl-nucleotide exchange factor activity
GO:0005087	Ran guanyl-nucleotide exchange factor activity
GO:0005089	Rho guanyl-nucleotide exchange factor activity
GO:0005515	protein binding
GO:0017112	Rab guanyl-nucleotide exchange factor activity
GO:0017137	Rab GTPase binding
GO:0030676	Rac guanyl-nucleotide exchange factor activity
GO:0042803	protein homodimerization activity
GO:0043539	protein serine/threonine kinase activator activity

Biological Process

GO:0001662	behavioral fear response
GO:0001881	receptor recycling
GO:0006979	response to oxidative stress
GO:0007032	endosome organization
GO:0007528	neuromuscular junction development
GO:0007626	locomotory behavior
GO:0008104	protein localization
GO:0008219	cell death
GO:0016050	vesicle organization
GO:0016197	endosomal transport
GO:0032313	regulation of Rab GTPase activity
GO:0032851	positive regulation of Rab GTPase activity
GO:0032853	positive regulation of Ran GTPase activity
GO:0032855	positive regulation of Rac GTPase activity
GO:0035022	positive regulation of Rac protein signal transduction
GO:0035023	regulation of Rho protein signal transduction
GO:0035249	synaptic transmission, glutamatergic
GO:0045860	positive regulation of protein kinase activity
GO:0048812	neuron projection morphogenesis
GO:0051036	regulation of endosome size
GO:0071902	positive regulation of protein serine/threonine kinase activity

Cellular Component

GO:0001726	ruffle
GO:0005737	cytoplasm
GO:0005769	early endosome
GO:0005813	centrosome
GO:0005829	cytosol
GO:0014069	postsynaptic density
GO:0030027	lamellipodium
GO:0030425	dendrite
GO:0030426	growth cone
GO:0031982	vesicle
GO:0043197	dendritic spine
GO:0043234	protein complex

Protein Structure and Domains

PDB ID

InterPro

IPR000219 Dbl homology (DH) domain
IPR000408 Regulator of chromosome condensation, RCC1
IPR003123 Vacuolar sorting protein 9
IPR003409 MORN motif
IPR009091 Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II

PFAM

PF00621
PF00415
PF02204
PF02493

PRINTS

PR00633

PIRSF

SMART

SM00325
SM00698

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt