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Q96Q42

- ALS2_HUMAN

UniProt

Q96Q42 - ALS2_HUMAN

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Protein
Alsin
Gene
ALS2, ALS2CR6, KIAA1563
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

May act as a GTPase regulator. Controls survival and growth of spinal motoneurons By similarity.1 Publication

GO - Molecular functioni

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

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 Rac GTPase activity Source: UniProtKB
  9. positive regulation of Rac protein signal transduction Source: UniProtKB
  10. positive regulation of protein kinase activity Source: UniProtKB
  11. positive regulation of protein serine/threonine kinase activity Source: GOC
  12. protein localization Source: Ensembl
  13. receptor recycling Source: Ensembl
  14. regulation of Rac GTPase activity Source: GOC
  15. regulation of Ran GTPase activity Source: GOC
  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
Complete GO annotation...

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)
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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Infantile-onset ascending spastic paralysis (IAHSP) [MIM:607225]: Characterized by progressive spasticity and weakness of limbs.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

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 – 16571657Alsin
PRO_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. 3 interactions.
MINTiMINT-1632128.
STRINGi9606.ENSP00000264276.

Structurei

3D structure databases

ProteinModelPortaliQ96Q42.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati59 – 10850RCC1 1
Add
BLAST
Repeati109 – 16759RCC1 2
Add
BLAST
Repeati169 – 21850RCC1 3
Add
BLAST
Repeati525 – 57652RCC1 4
Add
BLAST
Repeati578 – 62750RCC1 5
Add
BLAST
Domaini690 – 885196DH
Add
BLAST
Domaini901 – 1007107PH
Add
BLAST
Repeati1049 – 107123MORN 1
Add
BLAST
Repeati1072 – 109423MORN 2
Add
BLAST
Repeati1100 – 112223MORN 3
Add
BLAST
Repeati1123 – 114523MORN 4
Add
BLAST
Repeati1151 – 117323MORN 5
Add
BLAST
Repeati1175 – 119723MORN 6
Add
BLAST
Repeati1198 – 122023MORN 7
Add
BLAST
Repeati1221 – 124424MORN 8
Add
BLAST
Domaini1513 – 1657145VPS9
Add
BLAST

Sequence similaritiesi

Contains 8 MORN repeats.
Contains 1 PH domain.
Contains 5 RCC1 repeats.
Contains 1 VPS9 domain.

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 3 (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.

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.

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. 1 Publication
VSP_050521Add
BLAST
Alternative sequencei397 – 16571261Missing in isoform 2. 1 Publication
VSP_050522Add
BLAST
Alternative sequencei785 – 80723YCTSI…KPAID → QVSSPVSCSISAGLFCQGEQ LLN in isoform 3.
VSP_050523Add
BLAST
Alternative sequencei808 – 1657850Missing in isoform 3.
VSP_050524Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti69 – 691P → L in AAL14103. 1 Publication
Sequence conflicti69 – 691P → L in BAB14362. 1 Publication
Sequence conflicti115 – 1151W → C in AAH29174. 1 Publication

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...

Protein-protein interaction databases

BioGridi 121708. 3 interactions.
IntActi Q96Q42. 3 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-InvDBi 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

« Hide 'large scale' publications
  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: Brain.
  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: Brain.
  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: Colon and Kidney.
  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: September 3, 2014
This is version 133 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

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