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

Gene ID: 235633, updated on 11-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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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

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