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    als2b alsin Rho guanine nucleotide exchange factor ALS2 b [ Danio rerio (zebrafish) ]

    Gene ID: 100318899, updated on 27-Mar-2024

    Summary

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    Official Symbol
    als2bprovided by ZNC
    Official Full Name
    alsin Rho guanine nucleotide exchange factor ALS2 bprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-080929-1
    See related
    Ensembl:ENSDARG00000076924 AllianceGenome:ZFIN:ZDB-GENE-080929-1
    Gene type
    protein coding
    RefSeq status
    MODEL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    wu:fi21b09
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Is expressed in head; muscle; retinal inner nuclear layer; and retinal outer nuclear layer. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis and amyotrophic lateral sclerosis type 2. Orthologous to human ALS2 (alsin Rho guanine nucleotide exchange factor ALS2). [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
    human mouse all
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    Genomic context

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    Location:
    chromosome: 6
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    106 current GRCz11 (GCF_000002035.6) 6 NC_007117.7 (9793737..9861196)
    105 previous assembly GRCz10 (GCF_000002035.5) 6 NC_007117.6 (9558218..9625657)

    Chromosome 6 - NC_007117.7Genomic Context describing neighboring genes Neighboring gene frizzled class receptor 7b Neighboring gene cyclin-dependent kinase 15 Neighboring gene MAGUK p55 scaffold protein 4b Neighboring gene uncharacterized LOC110439849

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish. Gros-Louis F, et al. Hum Mol Genet, 2008 Sep 1. PMID 18558633
    2. An SMN-dependent U12 splicing event essential for motor circuit function. Lotti F, et al. Cell, 2012 Oct 12. PMID 23063131, Free PMC Article
    3. ALS-associated genes display CNS expression in the developing zebrafish. Laboissonniere LA, et al. Gene Expr Patterns, 2018 Dec. PMID 30165106
    4. Phylogenetic and evolutionary relationships and developmental expression patterns of the zebrafish twist gene family. Yeo GH, et al. Dev Genes Evol, 2009 Jun. PMID 19565261
    5. RFX transcription factors are essential for hearing in mice. Elkon R, et al. Nat Commun, 2015 Oct 15. PMID 26469318, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in endosomal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    alsin
    Names
    amyotrophic lateral sclerosis 2b (juvenile)

    NCBI Reference Sequences (RefSeq)

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    RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007117.7 Reference GRCz11 Primary Assembly

      Range
      9793737..9861196
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_009302176.3 → XP_009300451.1  alsin isoform X2

      UniProtKB/TrEMBL
      A0A8M3B085
      Conserved Domains (7) summary
      smart00698
      Location:1150 → 1170
      MORN; Possible plasma membrane-binding motif in junctophilins, PIP-5-kinases and protein kinases
      COG4642
      Location:1082 → 1287
      COG4642; Uncharacterized conserved protein [Function unknown]
      cd13269
      Location:949 → 1062
      PH_alsin; Alsin Pleckstrin homology (PH) domain
      pfam00415
      Location:564 → 611
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam02204
      Location:1600 → 1699
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
      pfam02493
      Location:1101 → 1121
      MORN; MORN repeat
      pfam13540
      Location:88 → 117
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat

    2. XM_009302175.3 → XP_009300450.1  alsin isoform X1

      UniProtKB/TrEMBL
      A0A8M3B372
      Conserved Domains (7) summary
      smart00698
      Location:1153 → 1173
      MORN; Possible plasma membrane-binding motif in junctophilins, PIP-5-kinases and protein kinases
      COG4642
      Location:1085 → 1290
      COG4642; Uncharacterized conserved protein [Function unknown]
      cd13269
      Location:952 → 1065
      PH_alsin; Alsin Pleckstrin homology (PH) domain
      pfam00415
      Location:567 → 614
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam02204
      Location:1603 → 1702
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
      pfam02493
      Location:1104 → 1124
      MORN; MORN repeat
      pfam13540
      Location:88 → 117
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat

    3. XM_005165740.4 → XP_005165797.1  alsin isoform X3

      UniProtKB/TrEMBL
      A0A8M2BD05
      Conserved Domains (7) summary
      smart00698
      Location:1145 → 1165
      MORN; Possible plasma membrane-binding motif in junctophilins, PIP-5-kinases and protein kinases
      COG4642
      Location:1077 → 1282
      COG4642; Uncharacterized conserved protein [Function unknown]
      cd13269
      Location:952 → 1057
      PH_alsin; Alsin Pleckstrin homology (PH) domain
      pfam00415
      Location:567 → 614
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam02204
      Location:1595 → 1694
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
      pfam02493
      Location:1096 → 1116
      MORN; MORN repeat
      pfam13540
      Location:88 → 117
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat

    4. XM_009302177.3 → XP_009300452.1  alsin isoform X4

      UniProtKB/TrEMBL
      A0A8M3AT50
      Conserved Domains (7) summary
      smart00698
      Location:1136 → 1156
      MORN; Possible plasma membrane-binding motif in junctophilins, PIP-5-kinases and protein kinases
      COG4642
      Location:1068 → 1273
      COG4642; Uncharacterized conserved protein [Function unknown]
      cd13269
      Location:935 → 1048
      PH_alsin; Alsin Pleckstrin homology (PH) domain
      pfam00415
      Location:550 → 597
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam02204
      Location:1586 → 1685
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
      pfam02493
      Location:1087 → 1107
      MORN; MORN repeat
      pfam13540
      Location:88 → 117
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat

    5. XM_002662296.6 → XP_002662342.2  alsin isoform X5

      UniProtKB/TrEMBL
      A0A8M1RLU1, F8W4K3
      Related
      ENSDARP00000123908.1, ENSDART00000149896.2
      Conserved Domains (7) summary
      smart00698
      Location:1128 → 1148
      MORN; Possible plasma membrane-binding motif in junctophilins, PIP-5-kinases and protein kinases
      COG4642
      Location:1060 → 1265
      COG4642; Uncharacterized conserved protein [Function unknown]
      cd13269
      Location:935 → 1040
      PH_alsin; Alsin Pleckstrin homology (PH) domain
      pfam00415
      Location:550 → 597
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam02204
      Location:1578 → 1677
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
      pfam02493
      Location:1079 → 1099
      MORN; MORN repeat
      pfam13540
      Location:88 → 117
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    Nucleotide Protein Strain
    Heading Accession and Version

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