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    Aftph aftiphilin [ Mus musculus (house mouse) ]

    Gene ID: 216549, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Aftphprovided by MGI
    Official Full Name
    aftiphilinprovided by MGI
    Primary source
    MGI:MGI:1923012
    See related
    Ensembl:ENSMUSG00000049659 AllianceGenome:MGI:1923012
    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
    Summary
    Predicted to enable clathrin binding activity. Predicted to be involved in intracellular transport. Predicted to act upstream of or within protein transport. Predicted to be located in Golgi apparatus; cytosol; and nucleoplasm. Predicted to be part of AP-1 adaptor complex. Predicted to be active in trans-Golgi network membrane. Orthologous to human AFTPH (aftiphilin). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bladder adult (RPKM 12.6), cerebellum adult (RPKM 12.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Aftph in Genome Data Viewer
    Location:
    11 A3.1; 11 13.25 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (20635084..20691599, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (20685084..20741595, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39607 Neighboring gene predicted gene, 32142 Neighboring gene STARR-positive B cell enhancer ABC_E5208 Neighboring gene SERTA domain containing 2 Neighboring gene ribosomal protein L15 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E6957 Neighboring gene RIKEN cDNA 4930434J08 gene Neighboring gene STARR-seq mESC enhancer starr_28821 Neighboring gene STARR-seq mESC enhancer starr_28822 Neighboring gene STARR-positive B cell enhancer mm9_chr11:20694243-20694543 Neighboring gene predicted gene, 32213 Neighboring gene galectin like

    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. Aftiphilin is a component of the clathrin machinery in neurons. Burman JL, et al. FEBS Lett, 2005 Apr 11. PMID 15811338
    2. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
    3. BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING). Motani K, et al. J Biol Chem, 2020 Aug 7. PMID 32554809, Free PMC Article
    4. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808
    5. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249

    See all (22) 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 (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

    • 9130023F12Rik

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables clathrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables clathrin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of AP-1 adaptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of AP-1 adaptor complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in trans-Golgi network membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    aftiphilin

    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_001252503.2 → NP_001239432.1  aftiphilin isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frame-shift, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL645599, BC052036, BY066578
      Consensus CDS
      CCDS56761.1
      UniProtKB/TrEMBL
      H3BJH7, Q3UU49
      Related
      ENSMUSP00000134991.2, ENSMUST00000177543.8
      Conserved Domains (1) summary
      pfam15045
      Location:695 → 764
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking

    2. NM_001290545.1 → NP_001277474.1  aftiphilin isoform 3

      See identical proteins and their annotated locations for NP_001277474.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 3' coding region, compared to variant 1. The encoded isoform (3) is longer, compared to isoform 1.
      Source sequence(s)
      AK136815, AL645599, BC052036, BY066578
      Consensus CDS
      CCDS70146.1
      UniProtKB/Swiss-Prot
      Q5SSE6, Q80WT5, Q99KJ1
      UniProtKB/TrEMBL
      Q3UU49
      Related
      ENSMUSP00000121612.3, ENSMUST00000146722.9
      Conserved Domains (1) summary
      pfam15045
      Location:695 → 764
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking

    3. NM_181411.4 → NP_852076.1  aftiphilin isoform 1

      See identical proteins and their annotated locations for NP_852076.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform (1).
      Source sequence(s)
      AL645599, BC052036, BY066578
      Consensus CDS
      CCDS24459.1
      UniProtKB/TrEMBL
      Q3UU49
      Related
      ENSMUSP00000036778.6, ENSMUST00000035350.12
      Conserved Domains (1) summary
      pfam15045
      Location:695 → 764
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      20635084..20691599 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514625.5 → XP_006514688.1  aftiphilin isoform X1

      Conserved Domains (1) summary
      pfam15045
      Location:695 → 764
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80WT5.2 GenPept UniProtKB/Swiss-Prot:Q80WT5

    Gene LinkOut

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

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