Als2 alsin Rho guanine nucleotide exchange factor ALS2 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Als2provided by RGD
Official Full Name: alsin Rho guanine nucleotide exchange factor ALS2provided by RGD
Primary source: RGD:1310372
See related: EnsemblRapid:ENSRNOG00000023280 AllianceGenome:RGD:1310372
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable several functions, including GTPase regulator activity; protein homodimerization activity; and small GTPase binding activity. Involved in several processes, including Rac protein signal transduction; in utero embryonic development; and regulation of endosome size. Located in several cellular components, including dendrite; growth cone; and neuronal cell body. 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, Nov 2024]
Expression: Biased expression in Brain (RPKM 168.1), Liver (RPKM 132.0) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 9q31

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	9	NC_086027.1 (68107310..68180192, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	9	NC_051344.1 (60613182..60686394, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	9	NC_005108.4 (65961361..66034396, complement)

Chromosome 9 - NC_086027.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Als2 gene encodes a large protein termed alsin, which contains a number of predicted cell signaling and protein trafficking sequence motifs.
Title: Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor.
These results suggest that alsin binds cell membrane in a Ca(2+)-dependent manner through NCalpha and regulates membrane dynamics.
Title: Molecular interaction of neurocalcin alpha with alsin (ALS2).
ALS2/Alsin has a role in regulating Rac-PAK signaling and neurite outgrowth
Title: ALS2/Alsin regulates Rac-PAK signaling and neurite outgrowth.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
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
enables 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
enables guanyl-nucleotide exchange factor activity	ISO Inferred from Sequence Orthology more info
contributes_to guanyl-nucleotide exchange factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein serine/threonine kinase activator activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activator activity	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine kinase activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables small GTPase binding	IBA Inferred from Biological aspect of Ancestor more info
enables small GTPase binding	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info
enables small GTPase binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in Rac protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in behavioral fear response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within behavioral fear response	ISO Inferred from Sequence Orthology more info
involved_in endosomal transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in endosomal transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within endosomal transport	ISO Inferred from Sequence Orthology more info
involved_in in utero embryonic development	IEP Inferred from Expression Pattern more info	PubMed
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within locomotory behavior	ISO Inferred from Sequence Orthology more info
involved_in lysosomal transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lysosomal transport	ISO Inferred from Sequence Orthology more info
involved_in neuromuscular junction development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuromuscular junction development	ISO Inferred from Sequence Orthology more info
involved_in neuron projection morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in neuron projection morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in neuron projection morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of GTPase activity	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of GTPase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of GTPase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein kinase activity	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein kinase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within protein homooligomerization	ISO Inferred from Sequence Orthology more info
involved_in protein localization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within protein localization	ISO Inferred from Sequence Orthology more info
involved_in receptor recycling	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within receptor recycling	ISO Inferred from Sequence Orthology more info
involved_in regulation of endosome size	IEA Inferred from Electronic Annotation more info
involved_in regulation of endosome size	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of endosome size	ISO Inferred from Sequence Orthology more info
involved_in regulation of endosome size	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	ISO Inferred from Sequence Orthology more info
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to oxidative stress	ISO Inferred from Sequence Orthology more info
involved_in synaptic transmission, glutamatergic	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within synaptic transmission, glutamatergic	ISO Inferred from Sequence Orthology more info
involved_in vesicle organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within vesicle organization	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in axon	IDA Inferred from Direct Assay more info	PubMed
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
located_in dendritic spine	ISO Inferred from Sequence Orthology more info
located_in early endosome	IEA Inferred from Electronic Annotation more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in early endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in growth cone	IDA Inferred from Direct Assay more info	PubMed
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in lamellipodium	IEA Inferred from Electronic Annotation more info
located_in lamellipodium	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic density	ISO Inferred from Sequence Orthology more info
located_in postsynaptic density	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISS Inferred from Sequence or Structural Similarity more info
located_in ruffle	IEA Inferred from Electronic Annotation more info
located_in ruffle	ISO Inferred from Sequence Orthology more info
located_in vesicle	ISO Inferred from Sequence Orthology more info
located_in vesicle	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: alsin

Names: ALS2, alsin Rho guanine nucleotide exchange factor; amyotrophic lateral sclerosis 2 (juvenile); 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)

NM_001013413.1 → NP_001013431.1 alsin

See identical proteins and their annotated locations for NP_001013431.1

Status: PROVISIONAL

Source sequence(s)

BK005190

UniProtKB/Swiss-Prot

P0C5Y8

UniProtKB/TrEMBL

A0A8L2R6D9

Related

ENSRNOP00000072428.3, ENSRNOT00000088729.3

Conserved Domains (8) summary

COG4642
Location:1043 → 1182

COG4642; Uncharacterized conserved protein [Function unknown]

cd13269
Location:899 → 1004

PH_alsin; Alsin Pleckstrin homology (PH) domain

pfam00169
Location:920 → 998

PH; PH domain

pfam00415
Location:521 → 568

RCC1; Regulator of chromosome condensation (RCC1) repeat

pfam02204
Location:1548 → 1647

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam02493
Location:1094 → 1114

MORN; MORN repeat

pfam13540
Location:93 → 122

RCC1_2; Regulator of chromosome condensation (RCC1) repeat

cl02571
Location:689 → 873

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_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086027.1 Reference GRCr8

Range

68107310..68180192 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017596517.3 → XP_017452006.1 alsin isoform X2

UniProtKB/TrEMBL

A0A8L2R6D9
XM_063267376.1 → XP_063123446.1 alsin isoform X1

UniProtKB/Swiss-Prot

P0C5Y8
XM_006245001.5 → XP_006245063.1 alsin isoform X1

See identical proteins and their annotated locations for XP_006245063.1

UniProtKB/Swiss-Prot

P0C5Y8

UniProtKB/TrEMBL

A0A8L2R6D9

Conserved Domains (8) summary

COG4642
Location:1043 → 1182

COG4642; Uncharacterized conserved protein [Function unknown]

cd13269
Location:899 → 1004

PH_alsin; Alsin Pleckstrin homology (PH) domain

pfam00169
Location:920 → 998

PH; PH domain

pfam00415
Location:521 → 568

RCC1; Regulator of chromosome condensation (RCC1) repeat

pfam02204
Location:1548 → 1647

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam02493
Location:1094 → 1114

MORN; MORN repeat

pfam13540
Location:93 → 122

RCC1_2; Regulator of chromosome condensation (RCC1) repeat

cl02571
Location:689 → 873

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.