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    Aftph aftiphilin [ Mus musculus (house mouse) ]

    Gene ID: 216549, updated on 9-Dec-2024

    Summary

    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 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, Dec 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 12.6), cerebellum adult (RPKM 12.5) and 28 other tissues See more
    Orthologs
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    Genomic context

    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

    Expression

    • 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

    Variation

    Alleles

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

    Interactions

    General gene information

    Clone Names

    • 9130023F12Rik

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables clathrin binding  
    enables clathrin binding  
    enables clathrin binding  
    Process Evidence Code Pubs
    involved_in intracellular transport  
    involved_in intracellular transport  
    involved_in protein transport  
    Component Evidence Code Pubs
    part_of AP-1 adaptor complex  
    part_of AP-1 adaptor complex  
    part_of AP-1 adaptor complex  
    located_in Golgi apparatus  
    located_in cytosol  
    located_in cytosol  
    located_in intracellular membrane-bounded organelle  
    located_in nucleoplasm  
    located_in nucleoplasm  
    located_in perinuclear region of cytoplasm  
    is_active_in trans-Golgi network membrane  
    located_in trans-Golgi network membrane  

    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_001252503.2NP_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:695764
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking
    2. NM_001290545.1NP_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:695764
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking
    3. NM_181411.4NP_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:695764
      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_006514625.5XP_006514688.1  aftiphilin isoform X1

      Conserved Domains (1) summary
      pfam15045
      Location:695764
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking
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