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Q920R0 (ALS2_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 114. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Alsin
Alternative name(s):
Amyotrophic lateral sclerosis 2 protein homolog
Gene names
Name:Als2
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length1651 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May act as a GTPase regulator By similarity. Controls survival and growth of spinal motoneurons By similarity. UniProtKB Q96Q42

Subunit structure

Forms a heteromeric complex with ALS2CL. Interacts with ALS2CL By similarity.

Sequence similarities

Contains 1 DH (DBL-homology) domain.

Contains 8 MORN repeats.

Contains 1 PH domain.

Contains 5 RCC1 repeats.

Contains 1 VPS9 domain.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
   DomainRepeat
   Molecular functionGuanine-nucleotide releasing factor
   PTMAcetylation
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processbehavioral fear response

Inferred from mutant phenotype PubMed 16107644. Source: MGI

endosomal transport

Inferred from mutant phenotype PubMed 16321985PubMed 16769894. Source: MGI

locomotory behavior

Inferred from mutant phenotype PubMed 16107644PubMed 16769894. Source: MGI

neuromuscular junction development

Inferred from mutant phenotype PubMed 16321985. Source: MGI

neuron projection morphogenesis

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of Rac GTPase activity

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of protein kinase activity

Inferred from sequence or structural similarity. Source: UniProtKB

protein localization

Inferred from mutant phenotype PubMed 17093100. Source: MGI

receptor recycling

Inferred from mutant phenotype PubMed 17093100. Source: MGI

regulation of Rab GTPase activity

Inferred from direct assay PubMed 16085057. Source: MGI

regulation of Rac GTPase activity

Inferred from sequence or structural similarity. Source: GOC

regulation of endosome size

Inferred from sequence or structural similarity. Source: UniProtKB

response to oxidative stress

Inferred from mutant phenotype PubMed 16107644. Source: MGI

synaptic transmission, glutamatergic

Inferred from mutant phenotype PubMed 17093100. Source: MGI

vesicle organization

Inferred from direct assay PubMed 16085057. Source: MGI

   Cellular_componentcytoplasm

Inferred from direct assay PubMed 16085057. Source: MGI

cytosol

Inferred from sequence or structural similarity. Source: UniProtKB

dendrite

Inferred from sequence or structural similarity. Source: UniProtKB

dendritic spine

Inferred from direct assay PubMed 17093100. Source: MGI

early endosome

Inferred from sequence or structural similarity. Source: UniProtKB

growth cone

Inferred from sequence or structural similarity. Source: UniProtKB

lamellipodium

Inferred from direct assay PubMed 15033976. Source: UniProtKB

postsynaptic density

Inferred from direct assay PubMed 17093100. Source: MGI

protein complex

Inferred from sequence or structural similarity. Source: UniProtKB

ruffle

Inferred from direct assay PubMed 15033976. Source: UniProtKB

vesicle

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionRab GTPase binding

Inferred from sequence or structural similarity. Source: UniProtKB

Rab guanyl-nucleotide exchange factor activity

Inferred from sequence or structural similarity. Source: UniProtKB

Rac guanyl-nucleotide exchange factor activity

Inferred from sequence or structural similarity. Source: UniProtKB

protein binding

Inferred from physical interaction PubMed 17093100. Source: MGI

protein homodimerization activity

Inferred from sequence or structural similarity. Source: UniProtKB

protein serine/threonine kinase activator activity

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q920R0-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q920R0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     855-928: TSPEYQKLQD...LQHAGRFSVN → VGFVCAPPNT...MRSDALFWSV
     929-1651: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 16511651Alsin
PRO_0000080904

Regions

Repeat59 – 10850RCC1 1
Repeat109 – 16759RCC1 2
Repeat169 – 21850RCC1 3
Repeat519 – 57052RCC1 4
Repeat572 – 62150RCC1 5
Domain684 – 879196DH
Domain895 – 1001107PH
Repeat1043 – 106523MORN 1
Repeat1066 – 108823MORN 2
Repeat1094 – 111623MORN 3
Repeat1117 – 113923MORN 4
Repeat1145 – 116723MORN 5
Repeat1169 – 119123MORN 6
Repeat1192 – 121423MORN 7
Repeat1215 – 123824MORN 8
Domain1507 – 1651145VPS9

Amino acid modifications

Modified residue4771Phosphoserine Ref.7
Modified residue4861Phosphoserine Ref.7
Modified residue5271N6-acetyllysine Ref.8

Natural variations

Alternative sequence855 – 92874TSPEY…RFSVN → VGFVCAPPNTREAKSQSSLF ALSLLKMLGPGAGEMAQWVR APDCSSEGLEFKSQQPHGGS QPPVMRSDALFWSV in isoform 2.
VSP_050525
Alternative sequence929 – 1651723Missing in isoform 2.
VSP_050526

Experimental info

Sequence conflict3181V → I in BAB69016. Ref.1
Sequence conflict3181V → I in AAH31479. Ref.4
Sequence conflict4691L → S in BAB69016. Ref.1
Sequence conflict4691L → S in AAH31479. Ref.4
Sequence conflict7641V → F in AAH46828. Ref.4
Sequence conflict12061V → L in BAB29271. Ref.5
Sequence conflict12961R → H in BAB69016. Ref.1
Sequence conflict14521S → L in BAB69016. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 3, 2012. Version 3.
Checksum: F9A9DBCA1ED423B2

FASTA1,651182,566
        10         20         30         40         50         60 
MDSKKKSSTE AEGSKERGLV HVWQAGSFSL TPERLPGWGG KTVLQAALGV RHGVLLTEDG 

        70         80         90        100        110        120 
EVYSFGTLPW KSESAEICPS SPLLESALVG HHVITVATGS FHSGAVTESG VVYMWGENAA 

       130        140        150        160        170        180 
GQCAVANQQY VPEPSPVSIS DSETSPSLAV RILQLACGEE HTLALSLSRE IWAWGTGCQL 

       190        200        210        220        230        240 
GLITTTFPVT KPQKVEHLAG RVVLQVACGA FHSLALVQCL PPQDLKPVPE RCNQCSQLLI 

       250        260        270        280        290        300 
TMTDKEDHVI ISDSHCCPLG VTLSESQAEK HASPAPSPHP EALDEQGEVF ENTVVEAELN 

       310        320        330        340        350        360 
MGSSQTTSGS AISTQQNVVG TAEVSSARTA PSYPDTHAVT AYLQKLSEHS MRENHEPGEK 

       370        380        390        400        410        420 
PPQVQPLVEE AVPDLHSPPT TSTSALNSLV VSCASAVGVR VAATYEAGAL SLKKVMNFYS 

       430        440        450        460        470        480 
TAPCETAAQS GSASTGPESL KDLREEQVKQ ESLQGKKSSS LMDIREEELE GGSRRLSLPG 

       490        500        510        520        530        540 
LLSQVSPRLL RKAARVKTRT VVLTPTYSGE ADALLPSLRT EVWTWGKGKE GQLGHGDVLP 

       550        560        570        580        590        600 
RLQPLCVKCL DGKEVIHLEA GGSHSLALTA KSQVYSWGSN TFGQLGHSEF PTTVPRLSKV 

       610        620        630        640        650        660 
SSENGVWSVA AGQDYSLFLV DTEDFQPGLY YSGRQDRAEG DTLPENPSGT KTPVLLSCSK 

       670        680        690        700        710        720 
LGYISRVTAG KDSYLALVDK NIMGYIASLH ELASTERRFY SKLSEIKSQI LRPLLSLENL 

       730        740        750        760        770        780 
GTVTTVQLLQ EVASRFSKLC YLIGQHGASL SSYLQGMKEA SSLVIMKHSS LFLDSYTEYC 

       790        800        810        820        830        840 
TSVSNFLVMG GFQLLAKPAI DFLNKNQELL QDLSEVNDEN TQLMEILNML FFLPIRRLHN 

       850        860        870        880        890        900 
YAKVLLKLAT CFEVTSPEYQ KLQDSSSCYE SLALHLGKKR KEAEYTLSFW KTFPGKMTDS 

       910        920        930        940        950        960 
LRKPERRLLC ESSNRALSLQ HAGRFSVNWF ILFNDALVHA QFSTHHVFPL ATLWAEPLSE 

       970        980        990       1000       1010       1020 
EAGSVNGLKI TTPEEQFTLI SSTPQEKTKW LRAISQAVDQ ALRGTSDFPL YGGGSSVQRQ 

      1030       1040       1050       1060       1070       1080 
EPPISRSAKY TFYKDTRLKD ATYDGRWLSG KPHGRGVLKW PDGKMYSGMF RNGLEDGYGE 

      1090       1100       1110       1120       1130       1140 
YRIPNKALNK EDHYVGHWKE GKMCGQGVYS YASGEVFEGC FQDNMRHGHG LLRSGKLTSS 

      1150       1160       1170       1180       1190       1200 
SPSMFIGQWV MDKKAGYGVF DDITRGEKYM GMWQDDVCQG NGVVVTQFGL YYEGNFHLNK 

      1210       1220       1230       1240       1250       1260 
MMGNGVLLSE DDTIYEGEFS DDWTLSGKGT LTMPHGDYIE GYFSGEWGSG IKITGTYFKP 

      1270       1280       1290       1300       1310       1320 
SLYESDKDKP KAFRKLGNLA VAADEKWRAV FEECWRQLGC ESPGQGEVWK AWDNIAVALT 

      1330       1340       1350       1360       1370       1380 
TNRRQHKDSP EILSRSQTQT LESLEYIPQH IGAFSVEKYD DIKKYLIKAC DTPLHPLGRL 

      1390       1400       1410       1420       1430       1440 
VETLVAVYRM TYVGVGANRR LLQEAVKEIK SYLKRIFQLV RFLFPELPEE GSTIPLSAPL 

      1450       1460       1470       1480       1490       1500 
PTGRRSFCTG KSDSRSESPE PGYVVTSSGL LLPVLLPRLY PPLFMLYALD NDREEDIYWE 

      1510       1520       1530       1540       1550       1560 
CVLRLNKQPD IALLGFLGVQ KKFWPATLSI LGESKKVLST TKDACFASAV ECLQQISTTF 

      1570       1580       1590       1600       1610       1620 
TPSDKLKVIQ QTFEEISQSV LASLQEDFLW SMDDLFPVFL YVVLRARIRN LGSEVHLIED 

      1630       1640       1650 
LMDPFLQHGE QGIMFTTLKA CYFQIQREKL N 

« Hide

Isoform 2 [UniParc].

Checksum: F4EF20522FF88C32
Show »

FASTA928100,103

References

« Hide 'large scale' references
[1]"A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2."
Hadano S., Hand C.K., Osuga H., Yanagisawa Y., Otomo A., Devon R.S., Miyamoto N., Showguchi-Miyata J., Okada Y., Singaraja R., Figlewicz D.A., Kwiatkowski T., Hosler B.A., Sagie T., Skaug J., Nasir J., Brown R.H. Jr., Scherer S.W. expand/collapse author list , Rouleau G.A., Hayden M.R., Ikeda J.-E.
Nat. Genet. 29:166-173(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Lineage-specific biology revealed by a finished genome assembly of the mouse."
Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. expand/collapse author list , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P.
PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Strain: C57BL/6J.
[3]Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Strain: C57BL/6.
Tissue: Brain and Mammary gland.
[5]"The transcriptional landscape of the mammalian genome."
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. expand/collapse author list , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 847-1651 (ISOFORM 1).
Strain: C57BL/6J.
[6]"Phosphoproteomic analysis of the developing mouse brain."
Ballif B.A., Villen J., Beausoleil S.A., Schwartz D., Gygi S.P.
Mol. Cell. Proteomics 3:1093-1101(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Embryonic brain.
[7]"Large-scale phosphorylation analysis of mouse liver."
Villen J., Beausoleil S.A., Gerber S.A., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 104:1488-1493(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-477 AND SER-486, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Liver.
[8]"SIRT5-mediated lysine desuccinylation impacts diverse metabolic pathways."
Park J., Chen Y., Tishkoff D.X., Peng C., Tan M., Dai L., Xie Z., Zhang Y., Zwaans B.M., Skinner M.E., Lombard D.B., Zhao Y.
Mol. Cell 50:919-930(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-527, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Embryonic fibroblast.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB053307 mRNA. Translation: BAB69016.1.
AC153652 Genomic DNA. No translation available.
CH466548 Genomic DNA. Translation: EDL00124.1.
BC031479 mRNA. Translation: AAH31479.1.
BC046828 mRNA. Translation: AAH46828.1.
AK014320 mRNA. Translation: BAB29271.2.
CCDSCCDS35583.1. [Q920R0-1]
RefSeqNP_001153420.2. NM_001159948.2. [Q920R0-1]
NP_082993.4. NM_028717.6. [Q920R0-1]
NP_666221.1. NM_146109.3.
UniGeneMm.272078.
Mm.474049.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid216427. 4 interactions.
STRING10090.ENSMUSP00000027178.

PTM databases

PhosphoSiteQ920R0.

Proteomic databases

MaxQBQ920R0.
PaxDbQ920R0.
PRIDEQ920R0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000027178; ENSMUSP00000027178; ENSMUSG00000026024. [Q920R0-1]
ENSMUST00000163058; ENSMUSP00000125753; ENSMUSG00000026024. [Q920R0-1]
GeneID74018.
KEGGmmu:74018.
UCSCuc007bdm.2. mouse.
uc007bdn.2. mouse. [Q920R0-2]

Organism-specific databases

CTD57679.
MGIMGI:1921268. Als2.

Phylogenomic databases

eggNOGCOG4642.
GeneTreeENSGT00730000110297.
HOGENOMHOG000033908.
HOVERGENHBG037320.
InParanoidQ920R0.
KOK04575.
OMAKLATCFE.
OrthoDBEOG7C5M7B.
TreeFamTF331793.

Gene expression databases

GenevestigatorQ920R0.

Family and domain databases

Gene3D1.20.900.10. 1 hit.
2.130.10.30. 2 hits.
2.30.29.30. 1 hit.
InterProIPR000219. DH-domain.
IPR003409. MORN.
IPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
IPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
IPR003123. VPS9.
[Graphical view]
PfamPF02493. MORN. 7 hits.
PF00415. RCC1. 4 hits.
PF00621. RhoGEF. 1 hit.
PF02204. VPS9. 1 hit.
[Graphical view]
PRINTSPR00633. RCCNDNSATION.
SMARTSM00698. MORN. 8 hits.
SM00233. PH. 1 hit.
[Graphical view]
SUPFAMSSF48065. SSF48065. 1 hit.
SSF50985. SSF50985. 2 hits.
PROSITEPS50010. DH_2. 1 hit.
PS00626. RCC1_2. 2 hits.
PS50012. RCC1_3. 4 hits.
PS51205. VPS9. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSALS2. mouse.
NextBio339546.
PROQ920R0.
SOURCESearch...

Entry information

Entry nameALS2_MOUSE
AccessionPrimary (citable) accession number: Q920R0
Secondary accession number(s): G5E868, Q8JZR1, Q9CXJ3
Entry history
Integrated into UniProtKB/Swiss-Prot: May 9, 2003
Last sequence update: October 3, 2012
Last modified: July 9, 2014
This is version 114 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot