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    Als2cl ALS2 C-terminal like [ Mus musculus (house mouse) ]

    Gene ID: 235633, updated on 30-Apr-2024

    Summary

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    Official Symbol
    Als2clprovided by MGI
    Official Full Name
    ALS2 C-terminal likeprovided by MGI
    Primary source
    MGI:MGI:2447532
    See related
    Ensembl:ENSMUSG00000044037 AllianceGenome:MGI:2447532
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    79H19D; 79H19E; mRn.49018; D930044G19Rik
    Summary
    Enables small GTPase binding activity. Acts upstream of or within protein localization. Located in cytoplasmic vesicle. Orthologous to human ALS2CL (ALS2 C-terminal like). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in lung adult (RPKM 21.1), thymus adult (RPKM 17.2) and 19 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Als2cl in Genome Data Viewer
    Location:
    9 F2; 9 60.79 cM
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (110709203..110729598)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (110880120..110900530)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene serine protease 50 Neighboring gene transmembrane inner ear Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:110810109-110810292 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:110810303-110810412 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:110810673-110810995 Neighboring gene family with sequence similarity 240 member A Neighboring gene CRISPRi-validated Tdgf1 proximal enhancer Neighboring gene cripto, EGF-CFC family member

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. The circling mouse (C57BL/6J-cir) has a 40-kilobase genomic deletion that includes the transmembrane inner ear (tmie) gene. Cho KI, et al. Comp Med, 2006 Dec. PMID 17219777
    2. ALS2CL, the novel protein highly homologous to the carboxy-terminal half of ALS2, binds to Rab5 and modulates endosome dynamics. Hadano S, et al. FEBS Lett, 2004 Sep 24. PMID 15388334
    3. ALS2CL, a novel ALS2-interactor, modulates ALS2-mediated endosome dynamics. Suzuki-Utsunomiya K, et al. Biochem Biophys Res Commun, 2007 Mar 9. PMID 17239822
    4. Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6. Mitchem KL, et al. Hum Mol Genet, 2002 Aug 1. PMID 12140191
    5. Rebalancing gene haploinsufficiency in vivo by targeting chromatin. Fulcoli FG, et al. Nat Commun, 2016 Jun 3. PMID 27256596, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endosomal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within endosome organization ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    acts_upstream_of_or_within protein localization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ALS2 C-terminal-like protein
    Names
    mFLJ00189 protein

    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)

    1. NM_001146059.1 → NP_001139531.1  ALS2 C-terminal-like protein

      See identical proteins and their annotated locations for NP_001139531.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AK030815, AK053076, BE336122, BF715088, CJ114324
      Consensus CDS
      CCDS23579.1
      UniProtKB/Swiss-Prot
      Q60I26, Q6KAQ8, Q8C0K7, Q8K468, Q8R222
      UniProtKB/TrEMBL
      A0A0R4J1X4
      Related
      ENSMUSP00000123304.2, ENSMUST00000130386.8
      Conserved Domains (3) summary
      PLN03185
      Location:357 → 550
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl17171
      Location:223 → 321
      PH-like; Pleckstrin homology-like domain
      cl19569
      Location:835 → 937
      VPS9; Vacuolar sorting protein 9 (VPS9) domain

    2. NM_001146060.1 → NP_001139532.1  ALS2 C-terminal-like protein

      See identical proteins and their annotated locations for NP_001139532.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AK030815, AK053076, BE336122, BF715088, BY721464
      Consensus CDS
      CCDS23579.1
      UniProtKB/Swiss-Prot
      Q60I26, Q6KAQ8, Q8C0K7, Q8K468, Q8R222
      UniProtKB/TrEMBL
      A0A0R4J1X4
      Related
      ENSMUSP00000115718.2, ENSMUST00000155014.2
      Conserved Domains (3) summary
      PLN03185
      Location:357 → 550
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl17171
      Location:223 → 321
      PH-like; Pleckstrin homology-like domain
      cl19569
      Location:835 → 937
      VPS9; Vacuolar sorting protein 9 (VPS9) domain

    3. NM_146228.4 → NP_666340.3  ALS2 C-terminal-like protein

      See identical proteins and their annotated locations for NP_666340.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AK030815, AK053076, BE336122, BF715088, CJ114324
      Consensus CDS
      CCDS23579.1
      UniProtKB/Swiss-Prot
      Q60I26, Q6KAQ8, Q8C0K7, Q8K468, Q8R222
      UniProtKB/TrEMBL
      A0A0R4J1X4
      Related
      ENSMUSP00000081989.3, ENSMUST00000084926.9
      Conserved Domains (3) summary
      PLN03185
      Location:357 → 550
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl17171
      Location:223 → 321
      PH-like; Pleckstrin homology-like domain
      cl19569
      Location:835 → 937
      VPS9; Vacuolar sorting protein 9 (VPS9) domain

    RNA

    1. NR_153354.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC139378, BF715088

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      110709203..110729598
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017313354.3 → XP_017168843.1  ALS2 C-terminal-like protein isoform X1

      UniProtKB/Swiss-Prot
      Q60I26, Q6KAQ8, Q8C0K7, Q8K468, Q8R222
      UniProtKB/TrEMBL
      A0A0R4J1X4
      Conserved Domains (3) summary
      PLN03185
      Location:357 → 550
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl17171
      Location:223 → 321
      PH-like; Pleckstrin homology-like domain
      cl19569
      Location:835 → 937
      VPS9; Vacuolar sorting protein 9 (VPS9) domain

    2. XM_017313358.3 → XP_017168847.1  ALS2 C-terminal-like protein isoform X1

      UniProtKB/Swiss-Prot
      Q60I26, Q6KAQ8, Q8C0K7, Q8K468, Q8R222
      UniProtKB/TrEMBL
      A0A0R4J1X4
      Conserved Domains (3) summary
      PLN03185
      Location:357 → 550
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl17171
      Location:223 → 321
      PH-like; Pleckstrin homology-like domain
      cl19569
      Location:835 → 937
      VPS9; Vacuolar sorting protein 9 (VPS9) domain

    3. XM_006512103.4 → XP_006512166.1  ALS2 C-terminal-like protein isoform X1

      See identical proteins and their annotated locations for XP_006512166.1

      UniProtKB/Swiss-Prot
      Q60I26, Q6KAQ8, Q8C0K7, Q8K468, Q8R222
      UniProtKB/TrEMBL
      A0A0R4J1X4
      Conserved Domains (3) summary
      PLN03185
      Location:357 → 550
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl17171
      Location:223 → 321
      PH-like; Pleckstrin homology-like domain
      cl19569
      Location:835 → 937
      VPS9; Vacuolar sorting protein 9 (VPS9) domain

    4. XM_017313356.2 → XP_017168845.1  ALS2 C-terminal-like protein isoform X1

      UniProtKB/Swiss-Prot
      Q60I26, Q6KAQ8, Q8C0K7, Q8K468, Q8R222
      UniProtKB/TrEMBL
      A0A0R4J1X4
      Conserved Domains (3) summary
      PLN03185
      Location:357 → 550
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl17171
      Location:223 → 321
      PH-like; Pleckstrin homology-like domain
      cl19569
      Location:835 → 937
      VPS9; Vacuolar sorting protein 9 (VPS9) domain

    5. XM_017313355.2 → XP_017168844.1  ALS2 C-terminal-like protein isoform X1

      UniProtKB/Swiss-Prot
      Q60I26, Q6KAQ8, Q8C0K7, Q8K468, Q8R222
      UniProtKB/TrEMBL
      A0A0R4J1X4
      Conserved Domains (3) summary
      PLN03185
      Location:357 → 550
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl17171
      Location:223 → 321
      PH-like; Pleckstrin homology-like domain
      cl19569
      Location:835 → 937
      VPS9; Vacuolar sorting protein 9 (VPS9) domain

    6. XM_017313357.2 → XP_017168846.1  ALS2 C-terminal-like protein isoform X1

      UniProtKB/Swiss-Prot
      Q60I26, Q6KAQ8, Q8C0K7, Q8K468, Q8R222
      UniProtKB/TrEMBL
      A0A0R4J1X4
      Conserved Domains (3) summary
      PLN03185
      Location:357 → 550
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl17171
      Location:223 → 321
      PH-like; Pleckstrin homology-like domain
      cl19569
      Location:835 → 937
      VPS9; Vacuolar sorting protein 9 (VPS9) domain

    7. XM_030244350.1 → XP_030100210.1  ALS2 C-terminal-like protein isoform X2

      UniProtKB/Swiss-Prot
      Q60I26, Q6KAQ8, Q8C0K7, Q8K468, Q8R222
      Related
      ENSMUST00000156673.2
      Conserved Domains (3) summary
      PLN03185
      Location:171 → 364
      PLN03185; phosphatidylinositol phosphate kinase; Provisional
      cl17171
      Location:37 → 135
      PH-like; Pleckstrin homology-like domain
      cl19569
      Location:649 → 751
      VPS9; Vacuolar sorting protein 9 (VPS9) domain

    RNA

    1. XR_003947892.2 RNA Sequence

    2. XR_004935433.1 RNA Sequence

    3. XR_001778896.2 RNA Sequence

    4. XR_003947893.2 RNA Sequence

    5. XR_003947890.2 RNA Sequence

    6. XR_003947891.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q60I26.1 GenPept UniProtKB/Swiss-Prot:Q60I26

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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