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

    Gene ID: 57679, updated on 12-Aug-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; Vega:OTTHUMG00000154507
    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, OTTHUMP00000224839, ENST00000467448.5, OTTHUMT00000335999
      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_020919.3NP_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)
      AC007242, AF391100, AK291029, BM978733, BP348546
      Consensus CDS
      CCDS42800.1
      UniProtKB/Swiss-Prot
      Q96Q42
      UniProtKB/TrEMBL
      A8K4R4
      Related
      ENSP00000264276.6, OTTHUMP00000205832, ENST00000264276.10, OTTHUMT00000335562
      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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