| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity). SUBUNIT: Forms a heteromeric complex with ALS2CL. Interacts with ALS2CL. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96Q42-1; Sequence=Displayed; Name=2; IsoId=Q96Q42-2; Sequence=VSP_050521, VSP_050522; Name=3; IsoId=Q96Q42-3; Sequence=VSP_050523, VSP_050524; Note=No experimental confirmation available; PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in ALS2 are the cause of amyotrophic lateral sclerosis type 2 (ALS2) [MIM:205100]. ALS2 is a familial form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. 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 cases leading to familial forms. DISEASE: Defects in ALS2 are the cause of juvenile primary lateral sclerosis (JPLS) [MIM:606353]. JPLS is 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 of the motor cortex while the lower neurons are unaffected. DISEASE: Defects in ALS2 are the cause of infantile-onset ascending spastic paralysis (IAHSP) [MIM:607225]. IAHSP is characterized by progressive spasticity and weakness of limbs. SIMILARITY: Contains 1 DH (DBL-homology) domain. SIMILARITY: Contains 8 MORN repeats. SIMILARITY: Contains 1 PH domain. SIMILARITY: Contains 5 RCC1 repeats. SIMILARITY: Contains 1 VPS9 domain. SEQUENCE CAUTION: Sequence=BAB13389.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=Alsod; Note=ALS genetic mutations db; URL="http://alsod.iop.kcl.ac.uk/Als/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALS2"; GENE SYNONYMS:ALS2 ALS2CR6 KIAA1563. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 1657 AA; 183634 MW; 0DF8AC7B259F255A CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:443,
urn:biopax:RelationshipXref:NCBI GENE_57679,
urn:biopax:RelationshipXref:REFSEQ_NP_001129217,
urn:biopax:RelationshipXref:REFSEQ_NP_065970,
urn:biopax:UnificationXref:UNIPROT_Q53TT1,
urn:biopax:UnificationXref:UNIPROT_Q53TV2,
urn:biopax:UnificationXref:UNIPROT_Q8N1E0,
urn:biopax:UnificationXref:UNIPROT_Q96PC4,
urn:biopax:UnificationXref:UNIPROT_Q96Q41,
urn:biopax:UnificationXref:UNIPROT_Q96Q42,
urn:biopax:UnificationXref:UNIPROT_Q9H973,
urn:biopax:UnificationXref:UNIPROT_Q9HCK9
|
| biopax3:displayName |
ALS2_HUMAN
|
| biopax3:name |
ALS2,
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein,
Amyotrophic lateral sclerosis 2 protein
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MDSKKRSSTEAEGSKERGLVHIWQAGSFPITPERLPGWGGKTVLQAALGVKHGVLLTEDGEVYSFGTLPWRSGPVEICPSSPILENALVGQYVITVATGSFHSGAVTDNGVAYMWGENSAGQCAVANQQYVPEPNPVSIADSEASPLLAVRILQLACGEEHTLALSISREIWAWGTGCQLGLITTAFPVTKPQKVEHLAGRVVLQVACGAFHSLALVQCLPSQDLKPVPERCNQCSQLLITMTDKEDHVIISDSHCCPLGVTLTESQAENHASTALSPSTETLDRQEEVFENTLVANDQSVATELNAVSAQITSSDAMSSQQNVMGTTEISSARNIPSYPDTQAVNEYLRKLSDHSVREDSEHGEKPVPSQPLLEEAIPNLHSPPTTSTSALNSLVVSCASAVGVRVAATYEAGALSLKKVMNFYSTTPCETGAQAGSSAIGPEGLKDSREEQVKQESMQGKKSSSLVDIREEETEGGSRRLSLPGLLSQVSPRLLRKAARVKTRTVVLTPTYSGEADALLPSLRTEVWTWGKGKEGQLGHGDVLPRLQPLCVKCLDGKEVIHLEAGGYHSLALTAKSQVYSWGSNTFGQLGHSDFPTTVPRLAKISSENGVWSIAAGRDYSLFLVDTEDFQPGLYYSGRQDPTEGDNLPENHSGSKTPVLLSCSKLGYISRVTAGKDSYLALVDKNIMGYIASLHELATTERRFYSKLSDIKSQILRPLLSLENLGTTTTVQLLQEVASRFSKLCYLIGQHGASLSSFLHGVKEARSLVILKHSSLFLDSYTEYCTSITNFLVMGGFQLLAKPAIDFLNKNQELLQDLSEVNDENTQLMEILNTLFFLPIRRLHNYAKVLLKLATCFEVASPEYQKLQDSSSCYECLALHLGRKRKEAEYTLGFWKTFPGKMTDSLRKPERRLLCESSNRALSLQHAGRFSVNWFILFNDALVHAQFSTHHVFPLATLWAEPLSEEAGGVNGLKITTPEEQFTLISSTPQEKTKWLRAISQAVDQALRGMSDLPPYGSGSSVQRQEPPISRSAKYTFYKDPRLKDATYDGRWLSGKPHGRGVLKWPDGKMYSGMFRNGLEDGYGEYRIPNKAMNKEDHYVGHWKEGKMCGQGVYSYASGEVFEGCFQDNMRHGHGLLRSGKLTSSSPSMFIGQWVMDKKAGYGVFDDITRGEKYMGMWQDDVCQGNGVVVTQFGLYYEGNFHLNKMMGNGVLLSEDDTIYEGEFSDDWTLSGKGTLTMPNGDYIEGYFSGEWGSGIKITGTYFKPSLYESDKDRPKVFRKLGNLAVPADEKWKAVFDECWRQLGCEGPGQGEVWKAWDNIAVALTTSRRQHRDSPEILSRSQTQTLESLEFIPQHVGAFSVEKYDDIRKYLIKACDTPLHPLGRLVETLVAVYRMTYVGVGANRRLLQEAVKEIKSYLKRIFQLVRFLFPELPEEGSTIPLSAPLPTERKSFCTGKSDSRSESPEPGYVVTSSGLLLPVLLPRLYPPLFMLYALDNDREEDIYWECVLRLNKQPDIALLGFLGVQRKFWPATLSILGESKKVLPTTKDACFASAVECLQQISTTFTPSDKLKVIQQTFEEISQSVLASLHEDFLWSMDDLFPVFLYVVLRARIRNLGSEVHLIEDLMDPYLQHGEQGIMFTTLKACYYQIQREKLN
|
| biopax3:standardName |
Alsin
|