ALS2

ALS2
Identifikatori
Aliasi	ALS2
Vanjski ID-jevi	OMIM: 606352 MGI: 1921268 HomoloGene: 23264 GeneCards: ALS2
Lokacija gena (čovjek)
Hrom.	Hromosom 2 (čovjek)
Kraj	201,782,112 bp
Lokacija gena (miš)
Hrom.	Hromosom 1 (miš)
Kraj	59,276,390 bp
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; • soma; • 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
	57679
	74018
	ENSG00000003393
	ENSMUSG00000026024
	Q96Q42
	Q920R0
	NM_001135745; NM_020919
	NM_001159948; NM_028717; NM_146109
	NP_001129217; NP_065970
	NP_001153420; NP_082993; NP_666221
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

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.

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

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000003393 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026024 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ "Entrez Gene: ALS2 amyotrophic lateral sclerosis 2 (juvenile)".
^ "OrthoMaM phylogenetic marker: ALS2 coding sequence". Arhivirano s originala, 4. 3. 2016. Pristupljeno 9. 12. 2009.
^ "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

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000003393 - Ensembl, maj 2017

[refGRCm38Ensembl-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.

[pmid11586298-5] 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.

[entrez-6] "Entrez Gene: ALS2 amyotrophic lateral sclerosis 2 (juvenile)".

[OrthoMaM-7] "OrthoMaM phylogenetic marker: ALS2 coding sequence". Arhivirano s originala, 4. 3. 2016. Pristupljeno 9. 12. 2009.

[UniProt-8] "UniProt, Q96Q42" (jezik: engleski). Pristupljeno 15. 11. 2021.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]