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Q96Q42

- ALS2_HUMAN

UniProt

Q96Q42 - ALS2_HUMAN

Protein

Alsin

Gene

ALS2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. protein homodimerization activity Source: UniProtKB
    3. protein serine/threonine kinase activator activity Source: UniProtKB
    4. Rab GTPase binding Source: UniProtKB
    5. Rab guanyl-nucleotide exchange factor activity Source: UniProtKB
    6. Rac guanyl-nucleotide exchange factor activity Source: UniProtKB
    7. Ran guanyl-nucleotide exchange factor activity Source: UniProtKB

    GO - Biological processi

    1. behavioral fear response Source: Ensembl
    2. cell death Source: UniProtKB-KW
    3. endosomal transport Source: Ensembl
    4. endosome organization Source: UniProtKB
    5. locomotory behavior Source: Ensembl
    6. neuromuscular junction development Source: Ensembl
    7. neuron projection morphogenesis Source: UniProtKB
    8. positive regulation of protein kinase activity Source: UniProtKB
    9. positive regulation of protein serine/threonine kinase activity Source: GOC
    10. positive regulation of Rab GTPase activity Source: GOC
    11. positive regulation of Rac GTPase activity Source: UniProtKB
    12. positive regulation of Rac protein signal transduction Source: UniProtKB
    13. positive regulation of Ran GTPase activity Source: GOC
    14. protein localization Source: Ensembl
    15. receptor recycling Source: Ensembl
    16. regulation of endosome size Source: UniProtKB
    17. response to oxidative stress Source: Ensembl
    18. synaptic transmission, glutamatergic Source: Ensembl
    19. vesicle organization Source: Ensembl

    Keywords - Molecular functioni

    Guanine-nucleotide releasing factor

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Alsin
    Alternative name(s):
    Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein
    Amyotrophic lateral sclerosis 2 protein
    Gene namesi
    Name:ALS2
    Synonyms:ALS2CR6, KIAA1563
    OrganismiHomo sapiens (Human)Imported
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:443. ALS2.

    Subcellular locationi

    GO - Cellular componenti

    1. centrosome Source: MGI
    2. cytosol Source: UniProtKB
    3. dendrite Source: UniProtKB
    4. dendritic spine Source: Ensembl
    5. early endosome Source: UniProtKB
    6. growth cone Source: UniProtKB
    7. lamellipodium Source: UniProtKB
    8. postsynaptic density Source: Ensembl
    9. protein complex Source: UniProtKB
    10. ruffle Source: UniProtKB
    11. vesicle Source: UniProtKB

    Pathology & Biotechi

    Involvement in diseasei

    Amyotrophic lateral sclerosis 2 (ALS2) [MIM:205100]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. 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 the cases.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Juvenile primary lateral sclerosis (JPLS) [MIM:606353]: 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 while the lower neurons are unaffected.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Infantile-onset ascending spastic paralysis (IAHSP) [MIM:607225]: Characterized by progressive spasticity and weakness of limbs.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Amyotrophic lateral sclerosis, Neurodegeneration

    Organism-specific databases

    MIMi205100. phenotype.
    606353. phenotype.
    607225. phenotype.
    Orphaneti293168. Infantile-onset ascending hereditary spastic paralysis.
    300605. Juvenile amyotrophic lateral sclerosis.
    247604. Juvenile primary lateral sclerosis.
    PharmGKBiPA24732.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 16571657AlsinPRO_0000080903Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei483 – 4831Phosphoserine3 Publications
    Modified residuei492 – 4921Phosphoserine3 Publications
    Modified residuei533 – 5331N6-acetyllysine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ96Q42.
    PaxDbiQ96Q42.
    PRIDEiQ96Q42.

    PTM databases

    PhosphoSiteiQ96Q42.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96Q42.
    BgeeiQ96Q42.
    CleanExiHS_ALS2.
    GenevestigatoriQ96Q42.

    Organism-specific databases

    HPAiHPA046588.

    Interactioni

    Subunit structurei

    Forms a heteromeric complex with ALS2CL. Interacts with ALS2CL.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    RAB5AP203392EBI-1044902,EBI-399437

    Protein-protein interaction databases

    BioGridi121708. 3 interactions.
    IntActiQ96Q42. 4 interactions.
    MINTiMINT-1632128.
    STRINGi9606.ENSP00000264276.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96Q42.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati59 – 10850RCC1 1CuratedAdd
    BLAST
    Repeati109 – 16759RCC1 2CuratedAdd
    BLAST
    Repeati169 – 21850RCC1 3CuratedAdd
    BLAST
    Repeati525 – 57652RCC1 4CuratedAdd
    BLAST
    Repeati578 – 62750RCC1 5CuratedAdd
    BLAST
    Domaini690 – 885196DHPROSITE-ProRule annotationAdd
    BLAST
    Domaini901 – 1007107PHCuratedAdd
    BLAST
    Repeati1049 – 107123MORN 1Add
    BLAST
    Repeati1072 – 109423MORN 2Add
    BLAST
    Repeati1100 – 112223MORN 3Add
    BLAST
    Repeati1123 – 114523MORN 4Add
    BLAST
    Repeati1151 – 117323MORN 5Add
    BLAST
    Repeati1175 – 119723MORN 6Add
    BLAST
    Repeati1198 – 122023MORN 7Add
    BLAST
    Repeati1221 – 124424MORN 8Add
    BLAST
    Domaini1513 – 1657145VPS9PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 DH (DBL-homology) domain.PROSITE-ProRule annotation
    Contains 8 MORN repeats.Curated
    Contains 1 PH domain.Curated
    Contains 5 RCC1 repeats.CuratedPROSITE-ProRule annotation
    Contains 1 VPS9 domain.CuratedPROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG4642.
    HOVERGENiHBG037320.
    InParanoidiQ96Q42.
    KOiK04575.
    OMAiKLATCFE.
    OrthoDBiEOG7C5M7B.
    PhylomeDBiQ96Q42.
    TreeFamiTF331793.

    Family and domain databases

    Gene3Di1.20.900.10. 1 hit.
    2.130.10.30. 2 hits.
    2.30.29.30. 1 hit.
    InterProiIPR000219. DH-domain.
    IPR003409. MORN.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR009091. RCC1/BLIP-II.
    IPR000408. Reg_chr_condens.
    IPR003123. VPS9.
    [Graphical view]
    PfamiPF02493. MORN. 8 hits.
    PF00415. RCC1. 4 hits.
    PF00621. RhoGEF. 1 hit.
    PF02204. VPS9. 1 hit.
    [Graphical view]
    PRINTSiPR00633. RCCNDNSATION.
    SMARTiSM00698. MORN. 8 hits.
    SM00233. PH. 1 hit.
    [Graphical view]
    SUPFAMiSSF48065. SSF48065. 1 hit.
    SSF50985. SSF50985. 2 hits.
    PROSITEiPS50010. DH_2. 1 hit.
    PS00626. RCC1_2. 2 hits.
    PS50012. RCC1_3. 5 hits.
    PS51205. VPS9. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 11 Publication (identifier: Q96Q42-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MDSKKRSSTE AEGSKERGLV HIWQAGSFPI TPERLPGWGG KTVLQAALGV     50
    KHGVLLTEDG EVYSFGTLPW RSGPVEICPS SPILENALVG QYVITVATGS 100
    FHSGAVTDNG VAYMWGENSA GQCAVANQQY VPEPNPVSIA DSEASPLLAV 150
    RILQLACGEE HTLALSISRE IWAWGTGCQL GLITTAFPVT KPQKVEHLAG 200
    RVVLQVACGA FHSLALVQCL PSQDLKPVPE RCNQCSQLLI TMTDKEDHVI 250
    ISDSHCCPLG VTLTESQAEN HASTALSPST ETLDRQEEVF ENTLVANDQS 300
    VATELNAVSA QITSSDAMSS QQNVMGTTEI SSARNIPSYP DTQAVNEYLR 350
    KLSDHSVRED SEHGEKPVPS QPLLEEAIPN LHSPPTTSTS ALNSLVVSCA 400
    SAVGVRVAAT YEAGALSLKK VMNFYSTTPC ETGAQAGSSA IGPEGLKDSR 450
    EEQVKQESMQ GKKSSSLVDI REEETEGGSR RLSLPGLLSQ VSPRLLRKAA 500
    RVKTRTVVLT PTYSGEADAL LPSLRTEVWT WGKGKEGQLG HGDVLPRLQP 550
    LCVKCLDGKE VIHLEAGGYH SLALTAKSQV YSWGSNTFGQ LGHSDFPTTV 600
    PRLAKISSEN GVWSIAAGRD YSLFLVDTED FQPGLYYSGR QDPTEGDNLP 650
    ENHSGSKTPV LLSCSKLGYI SRVTAGKDSY LALVDKNIMG YIASLHELAT 700
    TERRFYSKLS DIKSQILRPL LSLENLGTTT TVQLLQEVAS RFSKLCYLIG 750
    QHGASLSSFL HGVKEARSLV ILKHSSLFLD SYTEYCTSIT NFLVMGGFQL 800
    LAKPAIDFLN KNQELLQDLS EVNDENTQLM EILNTLFFLP IRRLHNYAKV 850
    LLKLATCFEV ASPEYQKLQD SSSCYECLAL HLGRKRKEAE YTLGFWKTFP 900
    GKMTDSLRKP ERRLLCESSN RALSLQHAGR FSVNWFILFN DALVHAQFST 950
    HHVFPLATLW AEPLSEEAGG VNGLKITTPE EQFTLISSTP QEKTKWLRAI 1000
    SQAVDQALRG MSDLPPYGSG SSVQRQEPPI SRSAKYTFYK DPRLKDATYD 1050
    GRWLSGKPHG RGVLKWPDGK MYSGMFRNGL EDGYGEYRIP NKAMNKEDHY 1100
    VGHWKEGKMC GQGVYSYASG EVFEGCFQDN MRHGHGLLRS GKLTSSSPSM 1150
    FIGQWVMDKK AGYGVFDDIT RGEKYMGMWQ DDVCQGNGVV VTQFGLYYEG 1200
    NFHLNKMMGN GVLLSEDDTI YEGEFSDDWT LSGKGTLTMP NGDYIEGYFS 1250
    GEWGSGIKIT GTYFKPSLYE SDKDRPKVFR KLGNLAVPAD EKWKAVFDEC 1300
    WRQLGCEGPG QGEVWKAWDN IAVALTTSRR QHRDSPEILS RSQTQTLESL 1350
    EFIPQHVGAF SVEKYDDIRK YLIKACDTPL HPLGRLVETL VAVYRMTYVG 1400
    VGANRRLLQE AVKEIKSYLK RIFQLVRFLF PELPEEGSTI PLSAPLPTER 1450
    KSFCTGKSDS RSESPEPGYV VTSSGLLLPV LLPRLYPPLF MLYALDNDRE 1500
    EDIYWECVLR LNKQPDIALL GFLGVQRKFW PATLSILGES KKVLPTTKDA 1550
    CFASAVECLQ QISTTFTPSD KLKVIQQTFE EISQSVLASL HEDFLWSMDD 1600
    LFPVFLYVVL RARIRNLGSE VHLIEDLMDP YLQHGEQGIM FTTLKACYYQ 1650
    IQREKLN 1657
    Length:1,657
    Mass (Da):183,634
    Last modified:May 18, 2010 - v2
    Checksum:i0DF8AC7B259F255A
    GO
    Isoform 21 Publication (identifier: Q96Q42-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         372-396: PLLEEAIPNLHSPPTTSTSALNSLV → VPAQFYKIKVCLELNCMGFSLETLK
         397-1657: Missing.

    Show »
    Length:396
    Mass (Da):42,629
    Checksum:i31073E4152B67E08
    GO
    Isoform 3Curated (identifier: Q96Q42-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         785-807: YCTSITNFLVMGGFQLLAKPAID → QVSSPVSCSISAGLFCQGEQLLN
         808-1657: Missing.

    Note: No experimental confirmation available.Curated

    Show »
    Length:807
    Mass (Da):86,782
    Checksum:i4F5438CF9A46844B
    GO

    Sequence cautioni

    The sequence BAB13389.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti69 – 691P → L in AAL14103. (PubMed:11586297)Curated
    Sequence conflicti69 – 691P → L in BAB14362. (PubMed:14702039)Curated
    Sequence conflicti115 – 1151W → C in AAH29174. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti94 – 941I → V.
    Corresponds to variant rs3219154 [ dbSNP | Ensembl ].
    VAR_036747
    Natural varianti102 – 1021H → R.1 Publication
    VAR_015655
    Natural varianti159 – 1591E → K.
    Corresponds to variant rs3219155 [ dbSNP | Ensembl ].
    VAR_036748
    Natural varianti368 – 3681V → M.4 Publications
    Corresponds to variant rs3219156 [ dbSNP | Ensembl ].
    VAR_015656
    Natural varianti1255 – 12551S → F.
    Corresponds to variant rs10206276 [ dbSNP | Ensembl ].
    VAR_036749
    Natural varianti1406 – 14061R → K.1 Publication
    VAR_015657

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei372 – 39625PLLEE…LNSLV → VPAQFYKIKVCLELNCMGFS LETLK in isoform 2. 2 PublicationsVSP_050521Add
    BLAST
    Alternative sequencei397 – 16571261Missing in isoform 2. 2 PublicationsVSP_050522Add
    BLAST
    Alternative sequencei785 – 80723YCTSI…KPAID → QVSSPVSCSISAGLFCQGEQ LLN in isoform 3. 1 PublicationVSP_050523Add
    BLAST
    Alternative sequencei808 – 1657850Missing in isoform 3. 1 PublicationVSP_050524Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF391100 mRNA. Translation: AAL14103.1.
    AB053305 mRNA. Translation: BAB69014.1.
    AB053306 mRNA. Translation: BAB69015.1.
    AB046783 mRNA. Translation: BAB13389.2. Different initiation.
    AK023024 mRNA. Translation: BAB14362.1.
    AC007242 Genomic DNA. Translation: AAX93181.1.
    AC007279 Genomic DNA. Translation: AAY15058.1.
    CH471063 Genomic DNA. Translation: EAW70291.1.
    BC029174 mRNA. Translation: AAH29174.1.
    CCDSiCCDS42800.1. [Q96Q42-1]
    CCDS46492.1. [Q96Q42-2]
    RefSeqiNP_001129217.1. NM_001135745.1. [Q96Q42-2]
    NP_065970.2. NM_020919.3. [Q96Q42-1]
    XP_006712717.1. XM_006712654.1. [Q96Q42-1]
    UniGeneiHs.471096.
    Hs.621812.

    Genome annotation databases

    EnsembliENST00000264276; ENSP00000264276; ENSG00000003393. [Q96Q42-1]
    ENST00000467448; ENSP00000429223; ENSG00000003393. [Q96Q42-2]
    GeneIDi57679.
    KEGGihsa:57679.
    UCSCiuc002uyo.3. human. [Q96Q42-1]
    uc002uyq.3. human. [Q96Q42-3]
    uc002uyr.3. human. [Q96Q42-2]

    Polymorphism databases

    DMDMi296434394.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Alsod

    ALS genetic mutations db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF391100 mRNA. Translation: AAL14103.1 .
    AB053305 mRNA. Translation: BAB69014.1 .
    AB053306 mRNA. Translation: BAB69015.1 .
    AB046783 mRNA. Translation: BAB13389.2 . Different initiation.
    AK023024 mRNA. Translation: BAB14362.1 .
    AC007242 Genomic DNA. Translation: AAX93181.1 .
    AC007279 Genomic DNA. Translation: AAY15058.1 .
    CH471063 Genomic DNA. Translation: EAW70291.1 .
    BC029174 mRNA. Translation: AAH29174.1 .
    CCDSi CCDS42800.1. [Q96Q42-1 ]
    CCDS46492.1. [Q96Q42-2 ]
    RefSeqi NP_001129217.1. NM_001135745.1. [Q96Q42-2 ]
    NP_065970.2. NM_020919.3. [Q96Q42-1 ]
    XP_006712717.1. XM_006712654.1. [Q96Q42-1 ]
    UniGenei Hs.471096.
    Hs.621812.

    3D structure databases

    ProteinModelPortali Q96Q42.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121708. 3 interactions.
    IntActi Q96Q42. 4 interactions.
    MINTi MINT-1632128.
    STRINGi 9606.ENSP00000264276.

    PTM databases

    PhosphoSitei Q96Q42.

    Polymorphism databases

    DMDMi 296434394.

    Proteomic databases

    MaxQBi Q96Q42.
    PaxDbi Q96Q42.
    PRIDEi Q96Q42.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264276 ; ENSP00000264276 ; ENSG00000003393 . [Q96Q42-1 ]
    ENST00000467448 ; ENSP00000429223 ; ENSG00000003393 . [Q96Q42-2 ]
    GeneIDi 57679.
    KEGGi hsa:57679.
    UCSCi uc002uyo.3. human. [Q96Q42-1 ]
    uc002uyq.3. human. [Q96Q42-3 ]
    uc002uyr.3. human. [Q96Q42-2 ]

    Organism-specific databases

    CTDi 57679.
    GeneCardsi GC02M202564.
    GeneReviewsi ALS2.
    H-InvDB HIX0200249.
    HGNCi HGNC:443. ALS2.
    HPAi HPA046588.
    MIMi 205100. phenotype.
    606352. gene.
    606353. phenotype.
    607225. phenotype.
    neXtProti NX_Q96Q42.
    Orphaneti 293168. Infantile-onset ascending hereditary spastic paralysis.
    300605. Juvenile amyotrophic lateral sclerosis.
    247604. Juvenile primary lateral sclerosis.
    PharmGKBi PA24732.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4642.
    HOVERGENi HBG037320.
    InParanoidi Q96Q42.
    KOi K04575.
    OMAi KLATCFE.
    OrthoDBi EOG7C5M7B.
    PhylomeDBi Q96Q42.
    TreeFami TF331793.

    Miscellaneous databases

    ChiTaRSi ALS2. human.
    GeneWikii ALS2.
    GenomeRNAii 57679.
    NextBioi 64490.
    PROi Q96Q42.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96Q42.
    Bgeei Q96Q42.
    CleanExi HS_ALS2.
    Genevestigatori Q96Q42.

    Family and domain databases

    Gene3Di 1.20.900.10. 1 hit.
    2.130.10.30. 2 hits.
    2.30.29.30. 1 hit.
    InterProi IPR000219. DH-domain.
    IPR003409. MORN.
    IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    IPR009091. RCC1/BLIP-II.
    IPR000408. Reg_chr_condens.
    IPR003123. VPS9.
    [Graphical view ]
    Pfami PF02493. MORN. 8 hits.
    PF00415. RCC1. 4 hits.
    PF00621. RhoGEF. 1 hit.
    PF02204. VPS9. 1 hit.
    [Graphical view ]
    PRINTSi PR00633. RCCNDNSATION.
    SMARTi SM00698. MORN. 8 hits.
    SM00233. PH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48065. SSF48065. 1 hit.
    SSF50985. SSF50985. 2 hits.
    PROSITEi PS50010. DH_2. 1 hit.
    PS00626. RCC1_2. 2 hits.
    PS50012. RCC1_3. 5 hits.
    PS51205. VPS9. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis."
      Yang Y., Hentati A., Deng H.-X., Dabbagh O., Sasaki T., Hirano M., Hung W.-Y., Ouahchi K., Yan J., Azim A.C., Cole N., Gascon G., Yagmour A., Ben-Hamida M., Pericak-Vance M., Hentati F., Siddique T.
      Nat. Genet. 29:160-165(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ARG-102 AND LYS-1406, INVOLVEMENT IN JPLS.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), INVOLVEMENT IN ALS2, VARIANT MET-368.
      Tissue: Brain1 Publication.
    3. "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."
      Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
      DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT MET-368.
      Tissue: Brain1 Publication.
    4. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION TO 303-304.
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    6. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "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] (ISOFORM 3), VARIANT MET-368.
      Tissue: Colon1 Publication and Kidney1 Publication.
    9. Cited for: SUBUNIT, INTERACTION WITH ALS2CL.
    10. "Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene."
      Eymard-Pierre E., Lesca G., Dollet S., Santorelli F.M., di Capua M., Bertini E., Boespflug-Tanguy O.
      Am. J. Hum. Genet. 71:518-527(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN IAHSP.
    11. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
      Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
      J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    12. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-483 AND SER-492, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-483 AND SER-492, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    15. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-533, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    16. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-483 AND SER-492, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiALS2_HUMAN
    AccessioniPrimary (citable) accession number: Q96Q42
    Secondary accession number(s): Q53TT1
    , Q53TV2, Q8N1E0, Q96PC4, Q96Q41, Q9H973, Q9HCK9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 9, 2003
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 134 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3