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

Gene ID: 74018, updated on 5-Aug-2018

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 Vega:OTTMUSG00000021752
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
Expression
Ubiquitous expression in cerebellum adult (RPKM 19.3), liver adult (RPKM 7.8) and 25 other tissues See more
Orthologs

Genomic context

See Als2 in Genome Data Viewer
Location:
1; 1 C1.3
Exon count:
35
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 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_000067.6Genomic 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

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 FunctionsWhat's a GeneRIF?

Variation

Alleles

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

Pathways from BioSystems

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

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
    ENSMUSP00000125753.1, OTTMUSP00000024338, ENSMUST00000163058.1, OTTMUST00000051628
    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
    ENSMUSP00000027178.6, OTTMUSP00000024337, ENSMUST00000027178.12, OTTMUST00000051627
    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
    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 106

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

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000067.6 Reference GRCm38.p4 C57BL/6J

    Range
    59162756..59237231 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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