ALS2 - alsin Rho guanine nucleotide exchange factor ALS2 Gene
Also Known as ALSJ; PLSJ; IAHSP; ALS2CR6
Species: Homo sapiens
About ALS2
This gene has 75 transcripts (splice variants), 278 orthologues, 9 paralogues and is associated with 7 phenotypes. Ubiquitous expression in heart (RPKM 4.3), brain (RPKM 3.7) and 25 other tissues.
Summary
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]
ALS2 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001135745.2 | NP_001129217.1 | alsin isoform 2 |
| NM_001410975.1 | NP_001397904.1 | alsin isoform 3 |
| NM_020919.4 | NP_065970.2 | alsin isoform 1 |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables GTPase activator activity |
IDA
IDA: Inferred from direct assay
|
12837691 | GOA |
| contributes to guanyl-nucleotide exchange factor activity |
IDA
IDA: Inferred from direct assay
|
15247254 | GOA |
| enables guanyl-nucleotide exchange factor activity |
IDA
IDA: Inferred from direct assay
|
12837691 | GOA |
| enables identical protein binding |
IDA
IDA: Inferred from direct assay
|
15247254 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
21300063 | GOA |
| enables protein homodimerization activity |
IPI
IPI: Inferred from physical interaction
|
15247254 | GOA |
| enables protein serine/threonine kinase activator activity |
IDA
IDA: Inferred from direct assay
|
16049005 | GOA |
| enables small GTPase binding |
IDA
IDA: Inferred from direct assay
|
12837691 | GOA |
| Biological Process GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| acts upstream of or within lysosomal transport |
IDA
IDA: Inferred from direct assay
|
12837691 | GOA |
| involved in neuron projection morphogenesis |
IDA
IDA: Inferred from direct assay
|
16049005 | GOA |
| involved in positive regulation of GTPase activity |
IDA
IDA: Inferred from direct assay
|
16049005 | GOA |
| involved in positive regulation of protein kinase activity |
IDA
IDA: Inferred from direct assay
|
16049005 | GOA |
| acts upstream of or within protein homooligomerization |
IDA
IDA: Inferred from direct assay
|
15247254 | GOA |
| involved in regulation of endosome size |
IEP
IEP: Inferred from expression pattern
|
15247254 | GOA |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| located in centrosome |
IDA
IDA: Inferred from direct assay
|
16085057 | GOA |
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
12837691 | GOA |
| located in dendrite |
IDA
IDA: Inferred from direct assay
|
15371724 | GOA |
| located in early endosome |
IDA
IDA: Inferred from direct assay
|
12837691 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
12837691 | GOA |
| part of protein-containing complex |
IDA
IDA: Inferred from direct assay
|
15247254 | GOA |
| located in vesicle |
IDA
IDA: Inferred from direct assay
|
12837691 | GOA |
ALS2 Protein Structure
RCC1: Regulator of chromosome condensation (RCC1) repeat (109 - 165)
RCC1: Regulator of chromosome condensation (RCC1) repeat (171 - 216)
RCC1: Regulator of chromosome condensation (RCC1) repeat (527 - 574)
RCC1: Regulator of chromosome condensation (RCC1) repeat (579 - 625)
RhoGEF: RhoGEF domain (695 - 878)
MORN: MORN repeat (1049 - 1070)
MORN: MORN repeat (1072 - 1091)
MORN: MORN repeat (1100 - 1120)
MORN: MORN repeat (1123 - 1139)
MORN: MORN repeat (1151 - 1166)
MORN: MORN repeat (1175 - 1189)
MORN: MORN repeat (1198 - 1217)
MORN: MORN repeat (1221 - 1243)
VPS9: Vacuolar sorting protein 9 (VPS9) domain (1553 - 1653)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1657 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
alsin |
|
ALS2 Anticorps
| Cat. No. | Nom du produit | Application | Reactivity |
|---|---|---|---|
| HY-P89976 | Alsin Antibody (YA9320) | WB, IP, ELISA | human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Spastic Paralysis, Infantile-Onset Ascending |
|
|
| Primary Lateral Sclerosis, Juvenile |
|
|
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
|
| Juvenile Amyotrophic Lateral Sclerosis |
|
|
| Als2-Related Disorder |
|
|
| Lateral Sclerosis |
|
|
| Tyrosinemia |
|
|
| Axonal Neuropathy |
|
|
| Spasticity |
|
|
| Motor Neuron Disease |
|
|
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
|
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
|
| Amyotrophic Lateral Sclerosis 11 |
|
|
| Amyotrophic Lateral Sclerosis Type 6 |
|
|
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
|
| Amyotrophic Lateral Sclerosis 8 |
|
|
| Amyotrophic Lateral Sclerosis Type 14 |
|
|
| Amyotrophic Lateral Sclerosis Type 15 |
|
|
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
|
| Amyotrophic Lateral Sclerosis Type 12 |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Amyotrophic Lateral Sclerosis 20 |
|
|
| Amyotrophic Lateral Sclerosis 18 |
|
|
| Amyotrophic Lateral Sclerosis Type 5 |
|
|
| Spinocerebellar Ataxia 2 |
|
|
| Amyotrophic Lateral Sclerosis 21 |
|
|
| Locked-In Syndrome |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Amyotrophic Lateral Sclerosis 7 |
|
|
| Pontocerebellar Hypoplasia, Type 2e |
|
|
| Distal Hereditary Motor Neuronopathy Type 7 |
|
|
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
|
| Amyotrophic Lateral Sclerosis 19 |
|
|
| Spastic Paraplegia 39, Autosomal Recessive |
|
|
| Neuronopathy, Distal Hereditary Motor, Type Iia |
|
|
| Progressive Bulbar Palsy |
|
|
| Neuronopathy, Distal Hereditary Motor, Type Va |
|
|
| Spondylometaphyseal Dysplasia, Axial |
|
|
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
|
| Warburg Micro Syndrome 1 |
|
|
| Progressive Muscular Atrophy |
|
|
| Spastic Paraplegia 10, Autosomal Dominant |
|
|
| Hemochromatosis, Type 1 |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
|
| Frontotemporal Dementia |
|
|
| Neuromuscular Disease |
|
|
| Charcot-Marie-Tooth Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | ALS2 | RGD | RGD:1310372 |
| Bos taurus | ALS2 | VGNC | VGNC:25851 |
| Mus musculus | ALS2 | MGD | MGI:1921268 |
| Canis familiaris | ALS2 | VGNC | VGNC:37819 |
| Felis catus | ALS2 | VGNC | VGNC:67397 |
| Macaca mulatta | ALS2 | VGNC | VGNC:84207 |
| Others | ALS2 | NCBI |