InnateDB: Systems Biology of the Innate Immune Response

Bos taurus Gene: ALS2

Summary

InnateDB Gene

IDBG-643258.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ALS2

Gene Name

Uncharacterized protein

Synonyms

Species

Bos taurus

Ensembl Gene

ENSBTAG00000007395

Encoded Proteins

IDBP-695824

amyotrophic lateral sclerosis 2 (juvenile)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000003393:
The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 2:90664833-90712586

Strand

Reverse strand

Band

Transcripts

ENSBTAT00000060956

ENSBTAP00000053718

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005085	guanyl-nucleotide exchange factor activity
GO:0005089	Rho guanyl-nucleotide exchange factor activity
GO:0005515	protein binding
GO:0017112	Rab guanyl-nucleotide exchange factor activity
GO:0017137	Rab GTPase binding
GO:0030676	Rac guanyl-nucleotide exchange factor activity
GO:0042803	protein homodimerization activity
GO:0043539	protein serine/threonine kinase activator activity

Biological Process

GO:0001662	behavioral fear response
GO:0001881	receptor recycling
GO:0006979	response to oxidative stress
GO:0007528	neuromuscular junction development
GO:0007626	locomotory behavior
GO:0008104	protein localization
GO:0016050	vesicle organization
GO:0016197	endosomal transport
GO:0032313	regulation of Rab GTPase activity
GO:0032851	positive regulation of Rab GTPase activity
GO:0032855	positive regulation of Rac GTPase activity
GO:0035023	regulation of Rho protein signal transduction
GO:0035249	synaptic transmission, glutamatergic
GO:0045860	positive regulation of protein kinase activity
GO:0048812	neuron projection morphogenesis
GO:0051036	regulation of endosome size
GO:0071902	positive regulation of protein serine/threonine kinase activity

Cellular Component

GO:0001726	ruffle
GO:0005737	cytoplasm
GO:0005769	early endosome
GO:0005813	centrosome
GO:0005829	cytosol
GO:0014069	postsynaptic density
GO:0030027	lamellipodium
GO:0030425	dendrite
GO:0031982	vesicle
GO:0043197	dendritic spine
GO:0043234	protein complex

Orthologs

Species

Homo sapiens

Mus musculus

Gene ID

Gene Order

ENSG00000003393

View Gene Order

ENSMUSG00000026024

View Gene Order

Pathway Predictions based on Human Orthology Data

NETPATH

REACTOME

KEGG

hsa05014

Amyotrophic lateral sclerosis (ALS) pathway

mmu05014

Amyotrophic lateral sclerosis (ALS) pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Bt.110729 Bt.110849

RefSeq

XM_002685510 XM_005199635 XM_005199636 XM_005202685 XM_005202686 XM_615861

HUGO

OMIM

CCDS

HPRD

IMGT

EMBL

GenPept

RNA Seq Atlas