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Entry version 181 (16 Oct 2019)
Sequence version 2 (18 May 2010)
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Protein

Alsin

Gene

ALS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Alsin
Alternative name(s):
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein
Amyotrophic lateral sclerosis 2 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ALS2
Synonyms:ALS2CR6, KIAA1563
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Unplaced

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:443 ALS2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606352 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96Q42

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Amyotrophic lateral sclerosis 2 (ALS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Juvenile primary lateral sclerosis (JPLS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Infantile-onset ascending spastic paralysis (IAHSP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by progressive spasticity and weakness of limbs.
Related information in OMIM

Keywords - Diseasei

Amyotrophic lateral sclerosis, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
57679

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
ALS2

MalaCards human disease database

More...
MalaCardsi
ALS2
MIMi205100 phenotype
606353 phenotype
607225 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000003393

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
293168 Infantile-onset ascending hereditary spastic paralysis
300605 Juvenile amyotrophic lateral sclerosis
247604 Juvenile primary lateral sclerosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24732

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96Q42

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ALS2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296434394

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000809031 – 1657AlsinAdd BLAST1657

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei465PhosphoserineCombined sources1
Modified residuei466PhosphoserineCombined sources1
Modified residuei483PhosphoserineCombined sources1
Modified residuei492PhosphoserineCombined sources1
Modified residuei510PhosphothreonineBy similarity1
Modified residuei533N6-acetyllysineCombined sources1
Modified residuei1335PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96Q42

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96Q42

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96Q42

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96Q42

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q96Q42

PeptideAtlas

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PeptideAtlasi
Q96Q42

PRoteomics IDEntifications database

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PRIDEi
Q96Q42

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
77823 [Q96Q42-1]
77824 [Q96Q42-2]
77825 [Q96Q42-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96Q42

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q96Q42

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000003393 Expressed in 192 organ(s), highest expression level in cerebellum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96Q42 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96Q42 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA046588

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms a heteromeric complex with ALS2CL.

Interacts with ALS2CL.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121708, 9 interactors

Protein interaction database and analysis system

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IntActi
Q96Q42, 16 interactors

Molecular INTeraction database

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MINTi
Q96Q42

STRING: functional protein association networks

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STRINGi
9606.ENSP00000264276

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati59 – 108RCC1 1CuratedAdd BLAST50
Repeati109 – 167RCC1 2CuratedAdd BLAST59
Repeati169 – 218RCC1 3CuratedAdd BLAST50
Repeati525 – 576RCC1 4CuratedAdd BLAST52
Repeati578 – 627RCC1 5CuratedAdd BLAST50
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini690 – 885DHPROSITE-ProRule annotationAdd BLAST196
Domaini901 – 1007PHCuratedAdd BLAST107
Repeati1049 – 1071MORN 1Add BLAST23
Repeati1072 – 1094MORN 2Add BLAST23
Repeati1100 – 1122MORN 3Add BLAST23
Repeati1123 – 1145MORN 4Add BLAST23
Repeati1151 – 1173MORN 5Add BLAST23
Repeati1175 – 1197MORN 6Add BLAST23
Repeati1198 – 1220MORN 7Add BLAST23
Repeati1221 – 1244MORN 8Add BLAST24
Domaini1513 – 1657VPS9PROSITE-ProRule annotationAdd BLAST145

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0231 Eukaryota
KOG1426 Eukaryota
COG4642 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155861

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96Q42

KEGG Orthology (KO)

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KOi
K04575

Identification of Orthologs from Complete Genome Data

More...
OMAi
PQHIGAF

Database of Orthologous Groups

More...
OrthoDBi
37470at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96Q42

TreeFam database of animal gene trees

More...
TreeFami
TF331793

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.1050.80, 1 hit
1.20.900.10, 1 hit
2.130.10.30, 2 hits
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR003409 MORN
IPR011993 PH-like_dom_sf
IPR009091 RCC1/BLIP-II
IPR000408 Reg_chr_condens
IPR003123 VPS9
IPR037191 VPS9_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02493 MORN, 8 hits
PF00415 RCC1, 4 hits
PF00621 RhoGEF, 1 hit
PF02204 VPS9, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00633 RCCNDNSATION

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00698 MORN, 8 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF109993 SSF109993, 1 hit
SSF48065 SSF48065, 1 hit
SSF50985 SSF50985, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50010 DH_2, 1 hit
PS00626 RCC1_2, 2 hits
PS50012 RCC1_3, 5 hits
PS51205 VPS9, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
        10         20         30         40         50
MDSKKRSSTE AEGSKERGLV HIWQAGSFPI TPERLPGWGG KTVLQAALGV
60 70 80 90 100
KHGVLLTEDG EVYSFGTLPW RSGPVEICPS SPILENALVG QYVITVATGS
110 120 130 140 150
FHSGAVTDNG VAYMWGENSA GQCAVANQQY VPEPNPVSIA DSEASPLLAV
160 170 180 190 200
RILQLACGEE HTLALSISRE IWAWGTGCQL GLITTAFPVT KPQKVEHLAG
210 220 230 240 250
RVVLQVACGA FHSLALVQCL PSQDLKPVPE RCNQCSQLLI TMTDKEDHVI
260 270 280 290 300
ISDSHCCPLG VTLTESQAEN HASTALSPST ETLDRQEEVF ENTLVANDQS
310 320 330 340 350
VATELNAVSA QITSSDAMSS QQNVMGTTEI SSARNIPSYP DTQAVNEYLR
360 370 380 390 400
KLSDHSVRED SEHGEKPVPS QPLLEEAIPN LHSPPTTSTS ALNSLVVSCA
410 420 430 440 450
SAVGVRVAAT YEAGALSLKK VMNFYSTTPC ETGAQAGSSA IGPEGLKDSR
460 470 480 490 500
EEQVKQESMQ GKKSSSLVDI REEETEGGSR RLSLPGLLSQ VSPRLLRKAA
510 520 530 540 550
RVKTRTVVLT PTYSGEADAL LPSLRTEVWT WGKGKEGQLG HGDVLPRLQP
560 570 580 590 600
LCVKCLDGKE VIHLEAGGYH SLALTAKSQV YSWGSNTFGQ LGHSDFPTTV
610 620 630 640 650
PRLAKISSEN GVWSIAAGRD YSLFLVDTED FQPGLYYSGR QDPTEGDNLP
660 670 680 690 700
ENHSGSKTPV LLSCSKLGYI SRVTAGKDSY LALVDKNIMG YIASLHELAT
710 720 730 740 750
TERRFYSKLS DIKSQILRPL LSLENLGTTT TVQLLQEVAS RFSKLCYLIG
760 770 780 790 800
QHGASLSSFL HGVKEARSLV ILKHSSLFLD SYTEYCTSIT NFLVMGGFQL
810 820 830 840 850
LAKPAIDFLN KNQELLQDLS EVNDENTQLM EILNTLFFLP IRRLHNYAKV
860 870 880 890 900
LLKLATCFEV ASPEYQKLQD SSSCYECLAL HLGRKRKEAE YTLGFWKTFP
910 920 930 940 950
GKMTDSLRKP ERRLLCESSN RALSLQHAGR FSVNWFILFN DALVHAQFST
960 970 980 990 1000
HHVFPLATLW AEPLSEEAGG VNGLKITTPE EQFTLISSTP QEKTKWLRAI
1010 1020 1030 1040 1050
SQAVDQALRG MSDLPPYGSG SSVQRQEPPI SRSAKYTFYK DPRLKDATYD
1060 1070 1080 1090 1100
GRWLSGKPHG RGVLKWPDGK MYSGMFRNGL EDGYGEYRIP NKAMNKEDHY
1110 1120 1130 1140 1150
VGHWKEGKMC GQGVYSYASG EVFEGCFQDN MRHGHGLLRS GKLTSSSPSM
1160 1170 1180 1190 1200
FIGQWVMDKK AGYGVFDDIT RGEKYMGMWQ DDVCQGNGVV VTQFGLYYEG
1210 1220 1230 1240 1250
NFHLNKMMGN GVLLSEDDTI YEGEFSDDWT LSGKGTLTMP NGDYIEGYFS
1260 1270 1280 1290 1300
GEWGSGIKIT GTYFKPSLYE SDKDRPKVFR KLGNLAVPAD EKWKAVFDEC
1310 1320 1330 1340 1350
WRQLGCEGPG QGEVWKAWDN IAVALTTSRR QHRDSPEILS RSQTQTLESL
1360 1370 1380 1390 1400
EFIPQHVGAF SVEKYDDIRK YLIKACDTPL HPLGRLVETL VAVYRMTYVG
1410 1420 1430 1440 1450
VGANRRLLQE AVKEIKSYLK RIFQLVRFLF PELPEEGSTI PLSAPLPTER
1460 1470 1480 1490 1500
KSFCTGKSDS RSESPEPGYV VTSSGLLLPV LLPRLYPPLF MLYALDNDRE
1510 1520 1530 1540 1550
EDIYWECVLR LNKQPDIALL GFLGVQRKFW PATLSILGES KKVLPTTKDA
1560 1570 1580 1590 1600
CFASAVECLQ QISTTFTPSD KLKVIQQTFE EISQSVLASL HEDFLWSMDD
1610 1620 1630 1640 1650
LFPVFLYVVL RARIRNLGSE VHLIEDLMDP YLQHGEQGIM FTTLKACYYQ

IQREKLN
Length:1,657
Mass (Da):183,634
Last modified:May 18, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y696H0Y696_HUMAN
Alsin
ALS2
585Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KQ33J3KQ33_HUMAN
Alsin
ALS2
139Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KQ43J3KQ43_HUMAN
Alsin
ALS2
106Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB13389 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti69P → L in AAL14103 (PubMed:11586297).Curated1
Sequence conflicti69P → L in BAB14362 (PubMed:14702039).Curated1
Sequence conflicti115W → C in AAH29174 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03674794I → V. Corresponds to variant dbSNP:rs3219154EnsemblClinVar.1
Natural variantiVAR_015655102H → R1 PublicationCorresponds to variant dbSNP:rs1416065347Ensembl.1
Natural variantiVAR_036748159E → K. Corresponds to variant dbSNP:rs3219155EnsemblClinVar.1
Natural variantiVAR_015656368V → M4 PublicationsCorresponds to variant dbSNP:rs3219156EnsemblClinVar.1
Natural variantiVAR_0367491255S → F. Corresponds to variant dbSNP:rs10206276Ensembl.1
Natural variantiVAR_0156571406R → K1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_050521372 – 396PLLEE…LNSLV → VPAQFYKIKVCLELNCMGFS LETLK in isoform 2. 2 PublicationsAdd BLAST25
Alternative sequenceiVSP_050522397 – 1657Missing in isoform 2. 2 PublicationsAdd BLAST1261
Alternative sequenceiVSP_050523785 – 807YCTSI…KPAID → QVSSPVSCSISAGLFCQGEQ LLN in isoform 3. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_050524808 – 1657Missing in isoform 3. 1 PublicationAdd BLAST850

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS42800.1 [Q96Q42-1]
CCDS46492.1 [Q96Q42-2]

NCBI Reference Sequences

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RefSeqi
NP_001129217.1, NM_001135745.1 [Q96Q42-2]
NP_065970.2, NM_020919.3 [Q96Q42-1]
XP_006712717.1, XM_006712654.2 [Q96Q42-1]

Genome annotation databases

Database of genes from NCBI RefSeq genomes

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GeneIDi
57679

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57679

UCSC genome browser

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UCSCi
uc002uyo.4 human [Q96Q42-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Alsod

ALS genetic mutations db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_006712654.2 [Q96Q42-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi121708, 9 interactors
IntActiQ96Q42, 16 interactors
MINTiQ96Q42
STRINGi9606.ENSP00000264276

PTM databases

iPTMnetiQ96Q42
PhosphoSitePlusiQ96Q42

Polymorphism and mutation databases

BioMutaiALS2
DMDMi296434394

Proteomic databases

EPDiQ96Q42
jPOSTiQ96Q42
MassIVEiQ96Q42
MaxQBiQ96Q42
PaxDbiQ96Q42
PeptideAtlasiQ96Q42
PRIDEiQ96Q42
ProteomicsDBi77823 [Q96Q42-1]
77824 [Q96Q42-2]
77825 [Q96Q42-3]

Genome annotation databases

GeneIDi57679
KEGGihsa:57679
UCSCiuc002uyo.4 human [Q96Q42-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57679
DisGeNETi57679

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ALS2
GeneReviewsiALS2
HGNCiHGNC:443 ALS2
HPAiHPA046588
MalaCardsiALS2
MIMi205100 phenotype
606352 gene
606353 phenotype
607225 phenotype
neXtProtiNX_Q96Q42
OpenTargetsiENSG00000003393
Orphaneti293168 Infantile-onset ascending hereditary spastic paralysis
300605 Juvenile amyotrophic lateral sclerosis
247604 Juvenile primary lateral sclerosis
PharmGKBiPA24732

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0231 Eukaryota
KOG1426 Eukaryota
COG4642 LUCA
GeneTreeiENSGT00940000155861
InParanoidiQ96Q42
KOiK04575
OMAiPQHIGAF
OrthoDBi37470at2759
PhylomeDBiQ96Q42
TreeFamiTF331793

Enzyme and pathway databases

ReactomeiR-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ALS2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ALS2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
57679
PharosiQ96Q42

Protein Ontology

More...
PROi
PR:Q96Q42

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000003393 Expressed in 192 organ(s), highest expression level in cerebellum
ExpressionAtlasiQ96Q42 baseline and differential
GenevisibleiQ96Q42 HS

Family and domain databases

Gene3Di1.20.1050.80, 1 hit
1.20.900.10, 1 hit
2.130.10.30, 2 hits
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR003409 MORN
IPR011993 PH-like_dom_sf
IPR009091 RCC1/BLIP-II
IPR000408 Reg_chr_condens
IPR003123 VPS9
IPR037191 VPS9_dom_sf
PfamiView protein in Pfam
PF02493 MORN, 8 hits
PF00415 RCC1, 4 hits
PF00621 RhoGEF, 1 hit
PF02204 VPS9, 1 hit
PRINTSiPR00633 RCCNDNSATION
SMARTiView protein in SMART
SM00698 MORN, 8 hits
SUPFAMiSSF109993 SSF109993, 1 hit
SSF48065 SSF48065, 1 hit
SSF50985 SSF50985, 2 hits
PROSITEiView protein in PROSITE
PS50010 DH_2, 1 hit
PS00626 RCC1_2, 2 hits
PS50012 RCC1_3, 5 hits
PS51205 VPS9, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiALS2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96Q42
Secondary accession number(s): Q53TT1
, Q53TV2, Q8N1E0, Q96PC4, Q96Q41, Q9H973, Q9HCK9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 9, 2003
Last sequence update: May 18, 2010
Last modified: October 16, 2019
This is version 181 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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