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    Arfgap3 ARF GTPase activating protein 3 [ Mus musculus (house mouse) ]

    Gene ID: 66251, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Arfgap3provided by MGI
    Official Full Name
    ARF GTPase activating protein 3provided by MGI
    Primary source
    MGI:MGI:1913501
    See related
    Ensembl:ENSMUSG00000054277 AllianceGenome:MGI:1913501
    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
    Arfgap1; 0610009H19Rik; 1810004P07Rik; 1810035F16Rik; 9130416J18Rik
    Summary
    Predicted to enable GTPase activator activity. Involved in presynaptic endocytosis. Is active in photoreceptor ribbon synapse and presynaptic active zone. Orthologous to human ARFGAP3 (ADP ribosylation factor GTPase activating protein 3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 30.0), colon adult (RPKM 25.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Arfgap3 in Genome Data Viewer
    Location:
    15 E1; 15 39.4 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (83183940..83234576, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (83299739..83350375, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA C130064B19 gene Neighboring gene STARR-seq mESC enhancer starr_39326 Neighboring gene predicted gene, 32788 Neighboring gene STARR-seq mESC enhancer starr_39329 Neighboring gene RIKEN cDNA 1700001L05 gene Neighboring gene microRNA 12186 Neighboring gene protein kinase C and casein kinase substrate in neurons 2 Neighboring gene predicted gene, 41368

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Effects of mechanical trauma on the differentiation and ArfGAP3 expression of C2C12 myoblast and mouse levator ani muscle. Yi Y, et al. Int Urogynecol J, 2020 Sep. PMID 31989201
    2. ArfGAP3 is a component of the photoreceptor synaptic ribbon complex and forms an NAD(H)-regulated, redox-sensitive complex with RIBEYE that is important for endocytosis. Dembla M, et al. J Neurosci, 2014 Apr 9. PMID 24719103, Free PMC Article
    3. Identification of new ciliary signaling pathways in the brain and insights into neurological disorders. Loukil A, et al. bioRxiv, 2023 Dec 21. PMID 38187761, Free PMC Article
    4. The antiobesity factor WDTC1 suppresses adipogenesis via the CRL4WDTC1 E3 ligase. Groh BS, et al. EMBO Rep, 2016 May. PMID 27113764, Free PMC Article
    5. Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies. Murtaza N, et al. Cell Rep, 2022 Nov 22. PMID 36417873

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Effects of mechanical trauma on the differentiation and ArfGAP3 expression of C2C12 myoblast and mouse levator ani muscle.
      Title: Effects of mechanical trauma on the differentiation and ArfGAP3 expression of C2C12 myoblast and mouse levator ani muscle.
    2. ArfGAP3 interacts with RIBEYE in an NAD(H)-dependent manner.
      Title: ArfGAP3 is a component of the photoreceptor synaptic ribbon complex and forms an NAD(H)-regulated, redox-sensitive complex with RIBEYE that is important for endocytosis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables GTPase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in COPI coating of Golgi vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in presynaptic endocytosis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in photoreceptor ribbon synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in presynaptic active zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ADP-ribosylation factor GTPase-activating protein 3
    Names
    ADP-ribosylation factor GTPase activating protein 1
    ADP-ribosylation factor GTPase activating protein 3
    ARF GAP 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_001357756.1 → NP_001344685.1  ADP-ribosylation factor GTPase-activating protein 3 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC165945
      Conserved Domains (2) summary
      smart00105
      Location:13 → 116
      ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF
      pfam09507
      Location:134 → 292
      CDC27; DNA polymerase subunit Cdc27

    2. NM_001357757.1 → NP_001344686.1  ADP-ribosylation factor GTPase-activating protein 3 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC165945
      Consensus CDS
      CCDS88818.1
      UniProtKB/Swiss-Prot
      Q544V6, Q8BW06, Q99KN8, Q9D8S3
      Related
      ENSMUSP00000154712.2, ENSMUST00000226124.2
      Conserved Domains (2) summary
      smart00105
      Location:13 → 116
      ArfGap; Putative GTP-ase activating proteins for the small GTPase, ARF
      pfam09507
      Location:134 → 291
      CDC27; DNA polymerase subunit Cdc27

    3. NM_025445.4 → NP_079721.2  ADP-ribosylation factor GTPase-activating protein 3 isoform 3

      See identical proteins and their annotated locations for NP_079721.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AC165945
      Consensus CDS
      CCDS49683.1
      UniProtKB/TrEMBL
      A0A0R4J0T8
      Related
      ENSMUSP00000064893.8, ENSMUST00000067215.9
      Conserved Domains (2) summary
      PLN03114
      Location:1 → 241
      PLN03114; ADP-ribosylation factor GTPase-activating protein AGD10; Provisional
      pfam01412
      Location:11 → 121
      ArfGap; Putative GTPase activating protein for Arf

    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_000081.7 Reference GRCm39 C57BL/6J

      Range
      83183940..83234576 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006521254.4 → XP_006521317.2  ADP-ribosylation factor GTPase-activating protein 3 isoform X1

      Conserved Domains (2) summary
      PLN03114
      Location:1 → 242
      PLN03114; ADP-ribosylation factor GTPase-activating protein AGD10; Provisional
      cd09028
      Location:4 → 123
      ArfGap_ArfGap3; Arf1 GTPase-activating protein 3
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D8S3.2 GenPept UniProtKB/Swiss-Prot:Q9D8S3

    Gene LinkOut

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

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