Protein: Alsin (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein) (Amyotrophic lateral sclerosis 2 protein) (Q96Q42)
Organism: Homo sapiens (Human)
Function: May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity).
Sequence: MDSKKRSSTEAEGSKERGLVHIWQAGSFPITPERLPGWGGKTVLQAALGVKHGVLLTEDGEVYSFGTLPWRSGPVEICPSSPILENALVGQYVITVATGSFHSGAVTDNGVAYMWGENSAGQCAVANQQYVPEPNPVSIADSEASPLLAVRILQLACGEEHTLALSISREIWAWGTGCQLGLITTAFPVTKPQKVEHLAGRVVLQVACGAFHSLALVQCLPSQDLKPVPERCNQCSQLLITMTDKEDHVIISDSHCCPLGVTLTESQAENHASTALSPSTETLDRQEEVFENTLVANDQSVATELNAVSAQITSSDAMSSQQNVMGTTEISSARNIPSYPDTQAVNEYLRKLSDHSVREDSEHGEKPVPSQPLLEEAIPNLHSPPTTSTSALNSLVVSCASAVGVRVAATYEAGALSLKKVMNFYSTTPCETGAQAGSSAIGPEGLKDSREEQVKQESMQGKKSSSLVDIREEETEGGSRRLSLPGLLSQVSPRLLRKAARVKTRTVVLTPTYSGEADALLPSLRTEVWTWGKGKEGQLGHGDVLPRLQPLCVKCLDGKEVIHLEAGGYHSLALTAKSQVYSWGSNTFGQLGHSDFPTTVPRLAKISSENGVWSIAAGRDYSLFLVDTEDFQPGLYYSGRQDPTEGDNLPENHSGSKTPVLLSCSKLGYISRVTAGKDSYLALVDKNIMGYIASLHELATTERRFYSKLSDIKSQILRPLLSLENLGTTTTVQLLQEVASRFSKLCYLIGQHGASLSSFLHGVKEARSLVILKHSSLFLDSYTEYCTSITNFLVMGGFQLLAKPAIDFLNKNQELLQDLSEVNDENTQLMEILNTLFFLPIRRLHNYAKVLLKLATCFEVASPEYQKLQDSSSCYECLALHLGRKRKEAEYTLGFWKTFPGKMTDSLRKPERRLLCESSNRALSLQHAGRFSVNWFILFNDALVHAQFSTHHVFPLATLWAEPLSEEAGGVNGLKITTPEEQFTLISSTPQEKTKWLRAISQAVDQALRGMSDLPPYGSGSSVQRQEPPISRSAKYTFYKDPRLKDATYDGRWLSGKPHGRGVLKWPDGKMYSGMFRNGLEDGYGEYRIPNKAMNKEDHYVGHWKEGKMCGQGVYSYASGEVFEGCFQDNMRHGHGLLRSGKLTSSSPSMFIGQWVMDKKAGYGVFDDITRGEKYMGMWQDDVCQGNGVVVTQFGLYYEGNFHLNKMMGNGVLLSEDDTIYEGEFSDDWTLSGKGTLTMPNGDYIEGYFSGEWGSGIKITGTYFKPSLYESDKDRPKVFRKLGNLAVPADEKWKAVFDECWRQLGCEGPGQGEVWKAWDNIAVALTTSRRQHRDSPEILSRSQTQTLESLEFIPQHVGAFSVEKYDDIRKYLIKACDTPLHPLGRLVETLVAVYRMTYVGVGANRRLLQEAVKEIKSYLKRIFQLVRFLFPELPEEGSTIPLSAPLPTERKSFCTGKSDSRSESPEPGYVVTSSGLLLPVLLPRLYPPLFMLYALDNDREEDIYWECVLRLNKQPDIALLGFLGVQRKFWPATLSILGESKKVLPTTKDACFASAVECLQQISTTFTPSDKLKVIQQTFEEISQSVLASLHEDFLWSMDDLFPVFLYVVLRARIRNLGSEVHLIEDLMDPYLQHGEQGIMFTTLKACYYQIQREKLN
InterPro domains: - IPR000219: Dbl homology domain (domain) [690-885]
- IPR000408: Regulator of chromosome condensation, RCC1 (repeat) [60-628]
- IPR037191: VPS9 domain superfamily (homologous_superfamily) [1378-1657]
- IPR057248: Alsin-like, PH-like domain (domain) [905-1010]
- IPR051984: Alsin GEFs and Motor Neuron Regulators (family) [14-1656]
- IPR003123: VPS9 domain (domain) [1513-1657]
- IPR035899: Dbl homology (DH) domain superfamily (homologous_superfamily) [692-894]
- IPR009091: Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II (homologous_superfamily) [4-695]
- IPR003409: MORN repeat (repeat) [1047-1243]
- IPR011993: PH-like domain superfamily (homologous_superfamily) [897-1030]
Interaction partners: - Ras-related protein Rab-5A
- Serine/threonine-protein kinase Nek1
- Probable helicase senataxin
- Superoxide dismutase
- GTPase-activating protein and VPS9 domain-containing protein 1
- Vesicle-associated membrane protein-associated protein B/C
- Polyphosphoinositide phosphatase
- TAR DNA-binding protein 43
- RNA-binding protein FUS
- Guanine nucleotide exchange factor C9orf72
Gene Ontology annotations:
Molecular Function (MF): GO:0003674 (molecular function), GO:0098772 (molecular function regulator activity), GO:0005488 (binding), GO:0030234 (enzyme regulator activity), GO:0140677 (molecular function activator activity), GO:0005515 (protein binding), GO:0140678 (molecular function inhibitor activity), GO:0060589 (nucleoside-triphosphatase regulator activity), GO:0005085 (guanyl-nucleotide exchange factor activity), GO:0030695 (GTPase regulator activity)
Biological Process (BP): GO:0008150 (biological process), GO:0008152 (metabolic process), GO:0065007 (biological regulation), GO:0051179 (localization), GO:0050896 (response to stimulus), GO:0009987 (cellular process), GO:0023052 (signaling), GO:0032501 (multicellular organismal process), GO:0007267 (cell-cell signaling), GO:0051641 (cellular localization), GO:0044237 (cellular metabolic process), GO:0033555 (multicellular organismal response to stress), GO:0051234 (establishment of localization), GO:0071840 (cellular component organization or biogenesis), GO:0065009 (regulation of molecular function), GO:0006950 (response to stress), GO:0071704 (organic substance metabolic process), GO:0033036 (macromolecule localization), GO:0007154 (cell communication), GO:0007610 (behavior), GO:0050790 (regulation of catalytic activity), GO:0099536 (synaptic signaling), GO:0046907 (intracellular transport), GO:0006979 (response to oxidative stress), GO:0006810 (transport), GO:0006952 (defense response), GO:0002209 (behavioral defense response), GO:0070727 (cellular macromolecule localization), GO:0051649 (establishment of localization in cell), GO:0016043 (cellular component organization), GO:0042596 (fear response), GO:0044260 (cellular macromolecule metabolic process), GO:0043170 (macromolecule metabolic process), GO:0007626 (locomotory behavior), GO:0043112 (receptor metabolic process), GO:0016197 (endosomal transport), GO:0001662 (behavioral fear response), GO:0051336 (regulation of hydrolase activity), GO:0099537 (trans-synaptic signaling), GO:0016192 (vesicle-mediated transport), GO:0008104 (protein localization), GO:0006996 (organelle organization), GO:0034330 (cell junction organization), GO:0043087 (regulation of GTPase activity), GO:0001881 (receptor recycling), GO:0098916 (anterograde trans-synaptic signaling), GO:0050808 (synapse organization), GO:0016050 (vesicle organization), GO:0007528 (neuromuscular junction development), GO:0007268 (chemical synaptic transmission), GO:0035249 (synaptic transmission, glutamatergic)
Cellular Component (CC): GO:0005575 (cellular component), GO:0110165 (cellular anatomical entity), GO:0005622 (intracellular anatomical structure), GO:0043226 (organelle), GO:0005737 (cytoplasm), GO:0043229 (intracellular organelle), GO:0043227 (membrane-bounded organelle), GO:0043231 (intracellular membrane-bounded organelle)