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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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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

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