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    Aftph aftiphilin [ Mus musculus (house mouse) ]

    Gene ID: 216549, updated on 31-Jan-2019

    Summary

    Official Symbol
    Aftphprovided by MGI
    Official Full Name
    aftiphilinprovided by MGI
    Primary source
    MGI:MGI:1923012
    See related
    Ensembl:ENSMUSG00000049659
    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
    Expression
    Ubiquitous expression in bladder adult (RPKM 12.6), cerebellum adult (RPKM 12.5) and 28 other tissues See more
    Orthologs

    Genomic context

    See Aftph in Genome Data Viewer
    Location:
    11; 11 A3.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 11 NC_000077.6 (20685084..20741556, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (20585087..20641487, complement)

    Chromosome 11 - NC_000077.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 39607 Neighboring gene predicted gene, 32142 Neighboring gene SERTA domain containing 2 Neighboring gene ribosomal protein L15 pseudogene Neighboring gene predicted gene, 46272 Neighboring gene predicted gene, 32213 Neighboring gene lectin, galactoside binding-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

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    General gene information

    Markers

    Homology

    Clone Names

    • 9130023F12Rik

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    clathrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    clathrin binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    AP-1 adaptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    AP-1 adaptor complex ISO
    Inferred from Sequence Orthology
    more info
     
    Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    trans-Golgi network membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    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/Swiss-Prot
      Q80WT5
      UniProtKB/TrEMBL
      H3BJH7
      Related
      ENSMUSP00000134991.1, ENSMUST00000177543.7
      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
      Q80WT5
      Related
      ENSMUSP00000121612.2, ENSMUST00000146722.8
      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/Swiss-Prot
      Q80WT5
      Related
      ENSMUSP00000036778.5, ENSMUST00000035350.11
      Conserved Domains (1) summary
      pfam15045
      Location:695764
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000077.6 Reference GRCm38.p4 C57BL/6J

      Range
      20685084..20741556 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514625.3XP_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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