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alsin; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein; amyotrophic lateral sclerosis 2 protein (ALS2 ALS2CR6 KIAA1563)
Function:
- may act as a GTPase regulator. controls survival & growth of spinal motoneurons (putative)
- phosphorylated upon DNA damage, probably by ATM or ATR
- forms a heteromeric complex with ALS2CL
- interacts with ALS2CL
Structure:
- contains 1 DH (DBL-homology) domain
- contains 8 MORN repeats
- contains 1 PH domain
- contains 5 RCC1 repeats
- contains 1 VPS9 domain
Alternative splicing: named isoforms=3
Pathology:
- defects in ALS2 are the cause of
a) amyotrophic lateral sclerosis type 2
b) juvenile primary lateral sclerosis
c) infantile-onset ascending spastic paralysis
Related
ALS2 gene mutation
amyotrophic lateral sclerosis (ALS); Lou Gerig's disease
General
cytoskeletal protein
phosphoprotein
Properties
SIZE: entity length = 1657 aa
MW = 184 kD
COMPARTMENT: cytoplasm
MOTIF: RCC1 repeat {59-108}
RCC1 repeat {109-167}
RCC1 repeat {169-218}
Ser phosphorylation site {S483}
Ser phosphorylation site {S492}
RCC1 repeat {525-576}
RCC1 repeat {578-627}
Dbl homology domain {690-885}
PH domain {901-1007}
MORN repeat {1049-1071}
MORN repeat {1072-1094}
MORN repeat {1100-1122}
MORN repeat {1123-1145}
MORN repeat {1151-1173}
MORN repeat {1175-1197}
MORN repeat {1198-1220}
MORN repeat {1221-1244}
Thr phosphorylation site {T1344}
Ser phosphorylation site {S1464}
VPS9 {1513-1657}
Database Correlations
OMIM correlations
MORBIDMAP 606352
UniProt Q96Q42
PFAM correlations
Entrez Gene 57679
Kegg hsa:57679
References
- UniProt :accession Q96Q42
- Alsod; Note: ALS genetic mutations db
http://alsod.iop.kcl.ac.uk/als/
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/ALS2