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    Als2 alsin Rho guanine nucleotide exchange factor [ Mus musculus (house mouse) ]

    Gene ID: 74018, updated on 23-Jun-2021

    Summary

    Official Symbol
    Als2provided by MGI
    Official Full Name
    alsin Rho guanine nucleotide exchange factorprovided by MGI
    Primary source
    MGI:MGI:1921268
    See related
    Ensembl:ENSMUSG00000026024
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Als; Alsin; Als2cr6; mKIAA1563; 3222402C23Rik; 9430073A21Rik
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 19.3), liver adult (RPKM 7.8) and 25 other tissues See more
    Orthologs
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    Genomic context

    See Als2 in Genome Data Viewer
    Location:
    1; 1 C1.3
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (59201915..59276390, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (59162756..59237231, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 1 NC_000067.5 (59219600..59294075, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 237 Neighboring gene membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) Neighboring gene predicted gene, 19125 Neighboring gene predicted gene, 33667 Neighboring gene cyclin-dependent kinase 15 Neighboring gene VISTA enhancer mm1575

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC27807

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to guanyl-nucleotide exchange factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables guanyl-nucleotide exchange factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein serine/threonine kinase activator activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in Rac protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in axonogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within behavioral fear response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell death ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within endosomal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within endosome organization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within locomotory behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lysosomal transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neuromuscular junction development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron projection morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of GTPase activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of protein kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within protein homooligomerization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within receptor recycling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within synaptic transmission, glutamatergic IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within vesicle organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in axon ISO
    Inferred from Sequence Orthology
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    located_in dendritic spine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in growth cone ISO
    Inferred from Sequence Orthology
    more info
     
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in neuron projection ISO
    Inferred from Sequence Orthology
    more info
     
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in postsynaptic density IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in ruffle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in vesicle ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    alsin
    Names
    amyotrophic lateral sclerosis 2 (juvenile) homolog
    amyotrophic lateral sclerosis 2 protein homolog
    amyotrophic lateral sclerosis protein 2 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001159948.2NP_001153420.2  alsin isoform 1

      See identical proteins and their annotated locations for NP_001153420.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 3 both encode the same protein.
      Source sequence(s)
      AB053307, AK029858, BC046828, DV648961
      Consensus CDS
      CCDS35583.1
      UniProtKB/Swiss-Prot
      Q920R0
      Related
      ENSMUSP00000125753.2, ENSMUST00000163058.2
      Conserved Domains (8) summary
      COG4642
      Location:10431182
      COG4642; Uncharacterized conserved protein [Function unknown]
      cd13269
      Location:8991004
      PH_alsin; Alsin Pleckstrin homology (PH) domain
      pfam00169
      Location:920998
      PH; PH domain
      pfam00415
      Location:521568
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam02204
      Location:15481647
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
      pfam02493
      Location:10941114
      MORN; MORN repeat
      pfam13540
      Location:93122
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
      cl02571
      Location:689873
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    2. NM_028717.6NP_082993.4  alsin isoform 1

      See identical proteins and their annotated locations for NP_082993.4

      Status: VALIDATED

      Source sequence(s)
      AB053307, AC153652, BC046828
      Consensus CDS
      CCDS35583.1
      UniProtKB/Swiss-Prot
      Q920R0
      Related
      ENSMUSP00000027178.7, ENSMUST00000027178.13
      Conserved Domains (8) summary
      COG4642
      Location:10431182
      COG4642; Uncharacterized conserved protein [Function unknown]
      cd13269
      Location:8991004
      PH_alsin; Alsin Pleckstrin homology (PH) domain
      pfam00169
      Location:920998
      PH; PH domain
      pfam00415
      Location:521568
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam02204
      Location:15481647
      VPS9; Vacuolar sorting protein 9 (VPS9) domain
      pfam02493
      Location:10941114
      MORN; MORN repeat
      pfam13540
      Location:93122
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
      cl02571
      Location:689873
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
    3. NM_146109.3NP_666221.1  alsin isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, 3' UTR, and 3' coding sequence compared to variant 3. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC153652, BC046828, CD543795
      UniProtKB/Swiss-Prot
      Q920R0
      Related
      ENSMUST00000159166.8
      Conserved Domains (3) summary
      pfam00415
      Location:521568
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam13540
      Location:93122
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
      cl02571
      Location:689847
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      59201915..59276390 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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