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ALS2 ALS2, alsin Rho guanine nucleotide exchange factor [ Homo sapiens (human) ]

Gene ID: 57679, updated on 7-Dec-2018

Summary

Official Symbol
ALS2provided by HGNC
Official Full Name
ALS2, alsin Rho guanine nucleotide exchange factorprovided by HGNC
Primary source
HGNC:HGNC:443
See related
Ensembl:ENSG00000003393 MIM:606352
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALSJ; PLSJ; IAHSP; ALS2CR6
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]
Expression
Ubiquitous expression in heart (RPKM 4.3), brain (RPKM 3.7) and 25 other tissues See more
Orthologs

Genomic context

See ALS2 in Genome Data Viewer
Location:
2q33.1
Exon count:
37
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (201700263..201781172, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (202564986..202645895, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 237 Neighboring gene enolase 1 pseudogene 4 Neighboring gene RNA, U6 small nuclear 651, pseudogene Neighboring gene membrane palmitoylated protein 4 Neighboring gene ribosomal protein S2 pseudogene 16 Neighboring gene cyclin dependent kinase 15 Neighboring gene ubiquitin conjugating enzyme E2 V1 pseudogene 11 Neighboring gene RNA, U6 small nuclear 440, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from KEGG)
    Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
  • Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from WikiPathways)
    Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
  • Amyotrophic lateral sclerosis (ALS), conserved biosystem (from KEGG)
    Amyotrophic lateral sclerosis (ALS), conserved biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystem (from REACTOME)
    RAB GEFs exchange GTP for GDP on RABs, organism-specific biosystemHuman cells have more than 60 RAB proteins that are key regulators of intracellular membrane trafficking. These small GTPases contribute to trafficking specificity by localizing to the membranes of d...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31851, KIAA1563, MGC87187

Gene Ontology Provided by GOA

Process Evidence Code Pubs
Rac protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
axonogenesis IEA
Inferred from Electronic Annotation
more info
 
behavioral fear response IEA
Inferred from Electronic Annotation
more info
 
cell death IEA
Inferred from Electronic Annotation
more info
 
endosomal transport IEA
Inferred from Electronic Annotation
more info
 
endosome organization IGI
Inferred from Genetic Interaction
more info
PubMed 
endosome organization NAS
Non-traceable Author Statement
more info
PubMed 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction development IEA
Inferred from Electronic Annotation
more info
 
neuron projection morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of Rac protein signal transduction IC
Inferred by Curator
more info
PubMed 
positive regulation of protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
protein localization IEA
Inferred from Electronic Annotation
more info
 
receptor recycling IEA
Inferred from Electronic Annotation
more info
 
regulation of Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of endosome size IEP
Inferred from Expression Pattern
more info
PubMed 
response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
dendrite IDA
Inferred from Direct Assay
more info
PubMed 
dendritic spine IEA
Inferred from Electronic Annotation
more info
 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
growth cone ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular membrane-bounded organelle IEA
Inferred from Electronic Annotation
more info
 
lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
ruffle ISS
Inferred from Sequence or Structural Similarity
more info
 
vesicle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
alsin
Names
amyotrophic lateral sclerosis 2 (juvenile)
amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein
amyotrophic lateral sclerosis 2 protein

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.

Genomic

  1. NG_008775.1 RefSeqGene

    Range
    5001..85910
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135745.1NP_001129217.1  alsin isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an internal polyA site resulting in a substantially shorter transcript with a unique 3' coding region, compared to variant 1. The encoded isoform (2), also known as the short form, is substantially shorter and has a unique C-terminus, compared to isoform 1.
    Source sequence(s)
    AB053306, AC007242, AK023024, BP348546, BU623061
    Consensus CDS
    CCDS46492.1
    UniProtKB/Swiss-Prot
    Q96Q42
    Related
    ENSP00000429223.1, ENST00000467448.5
    Conserved Domains (2) summary
    pfam00415
    Location:170216
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:93122
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
  2. NM_020919.4NP_065970.2  alsin isoform 1

    See identical proteins and their annotated locations for NP_065970.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1), also known as the LF or long form.
    Source sequence(s)
    AF391100, AK291029, BM978733
    Consensus CDS
    CCDS42800.1
    UniProtKB/Swiss-Prot
    Q96Q42
    UniProtKB/TrEMBL
    A8K4R4
    Related
    ENSP00000264276.6, ENST00000264276.10
    Conserved Domains (8) summary
    COG4642
    Location:10491188
    COG4642; Uncharacterized conserved protein [Function unknown]
    cd13269
    Location:9051010
    PH_alsin; Alsin Pleckstrin homology (PH) domain
    pfam00169
    Location:9261004
    PH; PH domain
    pfam00415
    Location:527574
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam02204
    Location:15541653
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam02493
    Location:11001120
    MORN; MORN repeat
    pfam13540
    Location:93122
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    cl02571
    Location:695879
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    201700263..201781172 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453024.1XP_024308792.1  alsin isoform X3

    Conserved Domains (5) summary
    cd13269
    Location:792897
    PH_alsin; Alsin Pleckstrin homology (PH) domain
    pfam00415
    Location:414461
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam02204
    Location:14411540
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    cl02571
    Location:582766
    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.
    cl27415
    Location:9351053
    COG4642; Uncharacterized conserved protein [Function unknown]
  2. XM_017004569.2XP_016860058.1  alsin isoform X2

    Conserved Domains (8) summary
    COG4642
    Location:10491188
    COG4642; Uncharacterized conserved protein [Function unknown]
    cd13269
    Location:9051010
    PH_alsin; Alsin Pleckstrin homology (PH) domain
    pfam00169
    Location:9261004
    PH; PH domain
    pfam00415
    Location:527574
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam02204
    Location:15531652
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam02493
    Location:11001120
    MORN; MORN repeat
    pfam13540
    Location:93122
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    cl02571
    Location:695879
    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. XM_006712654.3XP_006712717.1  alsin isoform X1

    See identical proteins and their annotated locations for XP_006712717.1

    UniProtKB/Swiss-Prot
    Q96Q42
    Conserved Domains (8) summary
    COG4642
    Location:10491188
    COG4642; Uncharacterized conserved protein [Function unknown]
    cd13269
    Location:9051010
    PH_alsin; Alsin Pleckstrin homology (PH) domain
    pfam00169
    Location:9261004
    PH; PH domain
    pfam00415
    Location:527574
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam02204
    Location:15541653
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam02493
    Location:11001120
    MORN; MORN repeat
    pfam13540
    Location:93122
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    cl02571
    Location:695879
    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.
  4. XM_024453025.1XP_024308793.1  alsin isoform X6

    Conserved Domains (4) summary
    cd13269
    Location:217322
    PH_alsin; Alsin Pleckstrin homology (PH) domain
    pfam02204
    Location:865964
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    cl02571
    Location:7191
    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.
    cl27415
    Location:360478
    COG4642; Uncharacterized conserved protein [Function unknown]
  5. XM_017004572.2XP_016860061.1  alsin isoform X7

  6. XM_006712655.3XP_006712718.1  alsin isoform X5

    Conserved Domains (6) summary
    COG4642
    Location:361500
    COG4642; Uncharacterized conserved protein [Function unknown]
    cd13269
    Location:217322
    PH_alsin; Alsin Pleckstrin homology (PH) domain
    pfam00169
    Location:238316
    PH; PH domain
    pfam02204
    Location:866965
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
    pfam02493
    Location:412432
    MORN; MORN repeat
    cl02571
    Location:7191
    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.
  7. XM_017004570.2XP_016860059.1  alsin isoform X4

    Conserved Domains (7) summary
    COG4642
    Location:10491188
    COG4642; Uncharacterized conserved protein [Function unknown]
    cd13269
    Location:9051010
    PH_alsin; Alsin Pleckstrin homology (PH) domain
    pfam00169
    Location:9261004
    PH; PH domain
    pfam00415
    Location:527574
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam02493
    Location:11001120
    MORN; MORN repeat
    pfam13540
    Location:93122
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    cl02571
    Location:695879
    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.

RNA

  1. XR_001738865.2 RNA Sequence

  2. XR_001738864.2 RNA Sequence

  3. XR_001738867.2 RNA Sequence

  4. XR_001738866.2 RNA Sequence

  5. XR_002959320.1 RNA Sequence

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