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    Atl3 atlastin GTPase 3 [ Mus musculus (house mouse) ]

    Gene ID: 109168, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Atl3provided by MGI
    Official Full Name
    atlastin GTPase 3provided by MGI
    Primary source
    MGI:MGI:1924270
    See related
    Ensembl:ENSMUSG00000024759 AllianceGenome:MGI:1924270
    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
    4633402C03Rik; 5730596K20Rik
    Summary
    Predicted to enable GTP binding activity; GTPase activity; and identical protein binding activity. Predicted to be involved in several processes, including Golgi organization; positive regulation of endoplasmic reticulum tubular network organization; and protein homooligomerization. Predicted to be located in endoplasmic reticulum tubular network membrane. Predicted to be integral component of membrane. Is expressed in olfactory cortex ventricular layer; orbito-sphenoid; and telencephalon ventricular layer. Human ortholog(s) of this gene implicated in hereditary sensory neuropathy type 1F. Orthologous to human ATL3 (atlastin GTPase 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis adult (RPKM 31.9), bladder adult (RPKM 16.2) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Atl3 in Genome Data Viewer
    Location:
    19 A; 19 5.32 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (7471178..7515974)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (7494015..7538609)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene microRNA 6991 Neighboring gene zinc finger translocation associated Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:7520209-7520392 Neighboring gene reticulon 3 Neighboring gene phospholipase A and acyltransferase 3 Neighboring gene STARR-seq mESC enhancer starr_45469 Neighboring gene STARR-seq mESC enhancer starr_45470 Neighboring gene lectin, galactose binding, soluble 12

    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. Disease-causing mutated ATLASTIN 3 is excluded from distal axons and reduces axonal autophagy. Behrendt L, et al. Neurobiol Dis, 2021 Jul. PMID 34019998
    2. Mammalian knock out cells reveal prominent roles for atlastin GTPases in ER network morphology. Zhao G, et al. Exp Cell Res, 2016 Nov 15. PMID 27669642
    3. REEP5 depletion causes sarco-endoplasmic reticulum vacuolization and cardiac functional defects. Lee SH, et al. Nat Commun, 2020 Feb 19. PMID 32075961, Free PMC Article
    4. Construction of a multi-functional cDNA library specific for mouse pancreatic islets and its application to microarray. Nishimura M, et al. DNA Res, 2004 Oct 31. PMID 15747579
    5. Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors. Kim H, et al. Cell, 2018 Dec 13. PMID 30550785, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Disease-causing mutated ATLASTIN 3 is excluded from distal axons and reduces axonal autophagy.
      Title: Disease-causing mutated ATLASTIN 3 is excluded from distal axons and reduces axonal autophagy.
    2. Endoplasmic reticulum morphology is markedly disrupted in ATL1, ATL2, and ATL3 knockout cells.
      Title: Mammalian knock out cells reveal prominent roles for atlastin GTPases in ER network morphology.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC28761

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Golgi organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endoplasmic reticulum organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoplasmic reticulum organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of endoplasmic reticulum tubular network organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein homooligomerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein homooligomerization ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum tubular network ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum tubular network membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    atlastin-3

    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_001163505.1 → NP_001156977.1  atlastin-3 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AC163276, AK077752, AK085735, AK147720, BP759756
      Consensus CDS
      CCDS50379.1
      UniProtKB/TrEMBL
      E9PYT3
      Related
      ENSMUSP00000132619.2, ENSMUST00000170373.9
      Conserved Domains (2) summary
      cl20817
      Location:378 → 427
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl21455
      Location:32 → 300
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_146091.4 → NP_666203.3  atlastin-3 isoform 2

      See identical proteins and their annotated locations for NP_666203.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is longer than isoform 1.
      Source sequence(s)
      AC163276, AK077752, AK085735, AK147720, BP759756, BY108453, CA318221
      Consensus CDS
      CCDS29527.1
      UniProtKB/Swiss-Prot
      Q3UGW3, Q8C0L7, Q8C174, Q91YH5, Q99LZ9
      Related
      ENSMUSP00000025668.8, ENSMUST00000025668.9
      Conserved Domains (2) summary
      cl20817
      Location:383 → 432
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl21455
      Location:37 → 305
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      7471178..7515974
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006526604.5 → XP_006526667.1  atlastin-3 isoform X1

      Conserved Domains (1) summary
      cl38936
      Location:48 → 316
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91YH5.1 GenPept UniProtKB/Swiss-Prot:Q91YH5

    Gene LinkOut

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

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