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

Gene ID: 74018, updated on 8-Feb-2024

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 AllianceGenome:MGI:1921268
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
Alsin; Als2cr6; mKIAA1563; 3222402C23Rik; 9430073A21Rik
Summary
Predicted to enable several functions, including GTPase regulator activity; protein homodimerization activity; and small GTPase binding activity. Acts upstream of or within several processes, including behavioral fear response; glutamatergic synaptic transmission; and receptor recycling. Located in several cellular components, including centrosome; lamellipodium; and ruffle. Is expressed in several structures, including central nervous system; genitourinary system; hemolymphoid system; liver; and retina. 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]
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 C1.3; 1 29.33 cM
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2024_02 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)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 237 Neighboring gene STARR-seq mESC enhancer starr_01030 Neighboring gene membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:59219938-59220121 Neighboring gene predicted gene, 19125 Neighboring gene STARR-positive B cell enhancer ABC_E1993 Neighboring gene predicted gene, 33667 Neighboring gene STARR-seq mESC enhancer starr_01032 Neighboring gene cyclin dependent kinase 15 Neighboring gene VISTA enhancer mm1575 Neighboring gene VISTA enhancer mm489 Neighboring gene predicted gene, 51625

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)
  • Gene trapped (1) 
  • Targeted (6)  1 citation
  • Endonuclease-mediated (2) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC27807

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables GTPase activator activity ISO
Inferred from Sequence Orthology
more info
 
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
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 endosomal transport IBA
Inferred from Biological aspect of Ancestor
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 
involved_in regulation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of endosome size ISO
Inferred from Sequence Orthology
more info
 
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
 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome ISO
Inferred from Sequence Orthology
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
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
 
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
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
 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
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 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)

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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
    G5E868, Q8JZR1, Q920R0, Q9CXJ3
    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
    G5E868, Q8JZR1, Q920R0, Q9CXJ3
    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: GCF_000001635.27-RS_2024_02

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)