ALS2

Alzin jest protein koji je kod ljudi kodiran genom ALS2 sa hromosoma 2.^[5][6] Ortolozi ALS2 ^[7] identificirani su kod svih sisara za koje su dostupni potpuni podaci o genomu.

ALS2
Identifikatori
Aliasi	ALS2
Vanjski ID-jevi	OMIM: 606352 MGI: 1921268 HomoloGene: 23264 GeneCards: ALS2
Lokacija gena (čovjek) Hrom. Hromosom 2 (čovjek)[1] Bend 2q33.1 Početak 201,700,267 bp[1] Kraj 201,782,112 bp[1]
Lokacija gena (miš) Hrom. Hromosom 1 (miš)[2] Bend 1|1 C1.3 Početak 59,202,085 bp[2] Kraj 59,276,390 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • protein homodimerization activity • guanyl-nucleotide exchange factor activity • protein serine/threonine kinase activator activity • GO:0001948, GO:0016582 vezivanje za proteine Ćelijska komponenta • citoplazma • Vezikula • centrosom • membrana • GO:0097483, GO:0097481 postsynaptic density • intracellular membrane-bounded organelle • growth cone • ruffle • dendritična kičma • Akson • neuronal cell body • dendrit • early endosome • neuron projection • lamellipodium • citosol • GO:0009327 makromolekulani kompleks Biološki proces • GO:0034613 protein localization • neuron projection morphogenesis • synaptic transmission, glutamatergic • axonogenesis • locomotory behavior • vesicle organization • GO:0043087, GO:0032313, GO:0032319, GO:0032314, GO:0043088 regulation of GTPase activity • Ćelijska smrt • in utero embryonic development • behavioral fear response • GO:0001306 response to oxidative stress • endosome organization • endosomal transport • GO:0032320, GO:0032321, GO:0032855, GO:0043089, GO:0032854 positive regulation of GTPase activity • receptor recycling • neuromuscular junction development • Rac protein signal transduction • regulation of Rho protein signal transduction • regulation of endosome size • positive regulation of Rac protein signal transduction • positive regulation of protein kinase activity • positive regulation of protein serine/threonine kinase activity Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	57679	74018
Ensembl	ENSG00000003393	ENSMUSG00000026024
UniProt	Q96Q42	Q920R0
RefSeq (mRNK)	NM_001135745 NM_020919	NM_001159948 NM_028717 NM_146109
RefSeq (bjelančevina)	NP_001129217 NP_065970	NP_001153420 NP_082993 NP_666221
Lokacija (UCSC)	Chr 2: 201.7 – 201.78 Mb	Chr 1: 59.2 – 59.28 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Amiokiselininska sekvenca

Dužina polipeptidnog lanca je 1.657 aminokiselina, a molekulska težina 183.634 Da.^[8]

• C: Cistein
• D: Asparaginska kiselina
• E: Glutaminska kiselina
• F: Fenilalanin
• G: Glicin
• H: Histidin
• I: Izoleucin
• K: Lizin
• L: Leucin
• M: Metionin
• N: Asparagin
• P: Prolin
• Q: Glutamin
• R: Arginin
• S: Serin
• T: Treonin
• V: Valin
• W: Triptofan
• Y: Tirozin

10		20		30		40		50
MDSKKRSSTE		AEGSKERGLV		HIWQAGSFPI		TPERLPGWGG		KTVLQAALGV
KHGVLLTEDG		EVYSFGTLPW		RSGPVEICPS		SPILENALVG		QYVITVATGS
FHSGAVTDNG		VAYMWGENSA		GQCAVANQQY		VPEPNPVSIA		DSEASPLLAV
RILQLACGEE		HTLALSISRE		IWAWGTGCQL		GLITTAFPVT		KPQKVEHLAG
RVVLQVACGA		FHSLALVQCL		PSQDLKPVPE		RCNQCSQLLI		TMTDKEDHVI
ISDSHCCPLG		VTLTESQAEN		HASTALSPST		ETLDRQEEVF		ENTLVANDQS
VATELNAVSA		QITSSDAMSS		QQNVMGTTEI		SSARNIPSYP		DTQAVNEYLR
KLSDHSVRED		SEHGEKPVPS		QPLLEEAIPN		LHSPPTTSTS		ALNSLVVSCA
SAVGVRVAAT		YEAGALSLKK		VMNFYSTTPC		ETGAQAGSSA		IGPEGLKDSR
EEQVKQESMQ		GKKSSSLVDI		REEETEGGSR		RLSLPGLLSQ		VSPRLLRKAA
RVKTRTVVLT		PTYSGEADAL		LPSLRTEVWT		WGKGKEGQLG		HGDVLPRLQP
LCVKCLDGKE		VIHLEAGGYH		SLALTAKSQV		YSWGSNTFGQ		LGHSDFPTTV
PRLAKISSEN		GVWSIAAGRD		YSLFLVDTED		FQPGLYYSGR		QDPTEGDNLP
ENHSGSKTPV		LLSCSKLGYI		SRVTAGKDSY		LALVDKNIMG		YIASLHELAT
TERRFYSKLS		DIKSQILRPL		LSLENLGTTT		TVQLLQEVAS		RFSKLCYLIG
QHGASLSSFL		HGVKEARSLV		ILKHSSLFLD		SYTEYCTSIT		NFLVMGGFQL
LAKPAIDFLN		KNQELLQDLS		EVNDENTQLM		EILNTLFFLP		IRRLHNYAKV
LLKLATCFEV		ASPEYQKLQD		SSSCYECLAL		HLGRKRKEAE		YTLGFWKTFP
GKMTDSLRKP		ERRLLCESSN		RALSLQHAGR		FSVNWFILFN		DALVHAQFST
HHVFPLATLW		AEPLSEEAGG		VNGLKITTPE		EQFTLISSTP		QEKTKWLRAI
SQAVDQALRG		MSDLPPYGSG		SSVQRQEPPI		SRSAKYTFYK		DPRLKDATYD
GRWLSGKPHG		RGVLKWPDGK		MYSGMFRNGL		EDGYGEYRIP		NKAMNKEDHY
VGHWKEGKMC		GQGVYSYASG		EVFEGCFQDN		MRHGHGLLRS		GKLTSSSPSM
FIGQWVMDKK		AGYGVFDDIT		RGEKYMGMWQ		DDVCQGNGVV		VTQFGLYYEG
NFHLNKMMGN		GVLLSEDDTI		YEGEFSDDWT		LSGKGTLTMP		NGDYIEGYFS
GEWGSGIKIT		GTYFKPSLYE		SDKDRPKVFR		KLGNLAVPAD		EKWKAVFDEC
WRQLGCEGPG		QGEVWKAWDN		IAVALTTSRR		QHRDSPEILS		RSQTQTLESL
EFIPQHVGAF		SVEKYDDIRK		YLIKACDTPL		HPLGRLVETL		VAVYRMTYVG
VGANRRLLQE		AVKEIKSYLK		RIFQLVRFLF		PELPEEGSTI		PLSAPLPTER
KSFCTGKSDS		RSESPEPGYV		VTSSGLLLPV		LLPRLYPPLF		MLYALDNDRE
EDIYWECVLR		LNKQPDIALL		GFLGVQRKFW		PATLSILGES		KKVLPTTKDA
CFASAVECLQ		QISTTFTPSD		KLKVIQQTFE		EISQSVLASL		HEDFLWSMDD
LFPVFLYVVL		RARIRNLGSE		VHLIEDLMDP		YLQHGEQGIM		FTTLKACYYQ
IQREKLN

Također pogledajte

• Juvenilna primarna lateralna skleroza
• Amiotrofna lateralna skleroza

Reference

1. GRCh38: Ensembl release 89: ENSG00000003393 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026024 - Ensembl, maj 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr, Scherer SW, Rouleau GA, Hayden MR, Ikeda JE (Oct 2001). "A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2". Nat Genet. 29 (2): 166–73. doi:10.1038/ng1001-166. PMID 11586298. S2CID 52828189.
6. "Entrez Gene: ALS2 amyotrophic lateral sclerosis 2 (juvenile)".
7. "OrthoMaM phylogenetic marker: ALS2 coding sequence". Arhivirano s originala, 4. 3. 2016. Pristupljeno 9. 12. 2009.
8. "UniProt, Q96Q42" (jezik: engleski). Pristupljeno 15. 11. 2021.

Dopunska literatura

• Hadano S (2002). "[Causative genes for familial amyotrophic lateral sclerosis]". Seikagaku. 74 (6): 483–9. PMID 12138710.
• Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
• Hadano S, Nichol K, Brinkman RR, et al. (1999). "A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34". Genomics. 55 (1): 106–12. doi:10.1006/geno.1998.5637. PMID 9889004.
• Hosler BA, Sapp PC, Berger R, et al. (2000). "Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33". Neurogenetics. 2 (1): 34–42. doi:10.1007/s100480050049. PMID 9933298. S2CID 33368578.
• Nagase T, Kikuno R, Nakayama M, et al. (2001). "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (4): 273–81. doi:10.1093/dnares/7.4.271. PMID 10997877.
• Yang Y, Hentati A, Deng HX, et al. (2001). "The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis". Nat. Genet. 29 (2): 160–5. doi:10.1038/ng1001-160. PMID 11586297. S2CID 9036123.
• Birkenhäger R, Otto E, Schürmann MJ, et al. (2001). "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure". Nat. Genet. 29 (3): 310–4. doi:10.1038/ng752. PMID 11687798. S2CID 5892001.
• Eymard-Pierre E, Lesca G, Dollet S, et al. (2002). "Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene". Am. J. Hum. Genet. 71 (3): 518–27. doi:10.1086/342359. PMC 379189. PMID 12145748.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Lesca G, Eymard-Pierre E, Santorelli FM, et al. (2004). "Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families". Neurology. 60 (4): 674–82. doi:10.1212/01.wnl.0000048207.28790.25. PMID 12601111. S2CID 20968387.
• Otomo A, Hadano S, Okada T, et al. (2003). "ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics". Hum. Mol. Genet. 12 (14): 1671–87. doi:10.1093/hmg/ddg184. PMID 12837691.
• Nagano I, Murakami T, Shiote M, et al. (2003). "Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis". Neurol. Res. 25 (5): 505–9. doi:10.1179/016164103101201733. PMID 12866199. S2CID 42350605.
• Devon RS, Helm JR, Rouleau GA, et al. (2004). "The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings". Clin. Genet. 64 (3): 210–5. doi:10.1034/j.1399-0004.2003.00138.x. PMID 12919135. S2CID 27423316.
• Yamanaka K, Vande Velde C, Eymard-Pierre E, et al. (2004). "Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease". Proc. Natl. Acad. Sci. U.S.A. 100 (26): 16041–6. doi:10.1073/pnas.2635267100. PMC 307689. PMID 14668431.
• Hand CK, Devon RS, Gros-Louis F, et al. (2004). "Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis". Arch. Neurol. 60 (12): 1768–71. doi:10.1001/archneur.60.12.1768. PMID 14676054.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Kanekura K, Hashimoto Y, Niikura T, et al. (2004). "Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants". J. Biol. Chem. 279 (18): 19247–56. doi:10.1074/jbc.M313236200. PMID 14970233.

Vanjski linkovi

• GeneReviews/NCBI/NIH/UW entry on ALS2-Related Disorders
• OMIM entries on ALS2-Related Disorders
• Genetics Home Reference- US National Library of Medicine®
• Lokacija ljudskog genoma ALS2 i stranica sa detaljima o genu ALS2 u UCSC Genome Browseru.

Šablon:Regulatori GTP-vezujućih proteina