InnateDB Protein
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IDBP-481135.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ALS2
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Protein Name
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amyotrophic lateral sclerosis 2 (juvenile)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000429223
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InnateDB Gene
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IDBG-78753 (ALS2)
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Protein Structure
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Function |
May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity). {ECO:0000250}.
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Subcellular Localization |
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
8
[view]
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Protein-DNA |
4
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
Accession |
GO Term |
GO:0005085
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guanyl-nucleotide exchange factor activity
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GO:0005087
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Ran guanyl-nucleotide exchange factor activity
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GO:0005515
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protein binding
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GO:0017112
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Rab guanyl-nucleotide exchange factor activity
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GO:0017137
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Rab GTPase binding
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GO:0030676
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Rac guanyl-nucleotide exchange factor activity
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GO:0042803
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protein homodimerization activity
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GO:0043539
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protein serine/threonine kinase activator activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000408
Regulator of chromosome condensation, RCC1
IPR009091
Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II
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PFAM |
PF00415
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PRINTS |
PR00633
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q96Q42
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PhosphoSite |
PhosphoSite-Q96Q42
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TrEMBL |
J3KQ43
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UniProt Splice Variant |
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Entrez Gene |
57679
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UniGene |
Hs.621812
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RefSeq |
NP_001129217
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HUGO |
HGNC:443
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OMIM |
606352
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CCDS |
CCDS46492
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HPRD |
05893
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IMGT |
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EMBL |
AB046783
AB053305
AB053306
AC007242
AC007279
AF391100
AK023024
BC029174
CH471063
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GenPept |
AAH29174
AAL14103
AAX93181
AAY15058
BAB13389
BAB14362
BAB69014
BAB69015
EAW70291
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