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    Fcho1 FCH domain only 1 [ Mus musculus (house mouse) ]

    Gene ID: 74015, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Fcho1provided by MGI
    Official Full Name
    FCH domain only 1provided by MGI
    Primary source
    MGI:MGI:1921265
    See related
    Ensembl:ENSMUSG00000070000 AllianceGenome:MGI:1921265
    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
    3322402E17Rik
    Summary
    Predicted to enable AP-2 adaptor complex binding activity. Predicted to be involved in clathrin coat assembly and clathrin-dependent endocytosis. Predicted to act upstream of or within endocytosis. Predicted to be located in cytosol and nucleoplasm. Predicted to be active in clathrin-coated pit and clathrin-coated vesicle. Is expressed in central nervous system; ganglia; neural retina; and thymus primordium. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human FCHO1 (FCH and mu domain containing endocytic adaptor 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in thymus adult (RPKM 111.2), spleen adult (RPKM 53.6) and 13 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Fcho1 in Genome Data Viewer
    Location:
    8 B3.3; 8 34.43 cM
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (72161031..72181980, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (71708387..71729330, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 Neighboring gene STARR-seq mESC enhancer starr_21829 Neighboring gene predicted gene 45756 Neighboring gene CCR4-NOT transcription complex, subunit 8 pseudogene Neighboring gene predicted gene, 35572 Neighboring gene proteinase-activated receptor 4-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. NECAP 1 regulates AP-2 interactions to control vesicle size, number, and cargo during clathrin-mediated endocytosis. Ritter B, et al. PLoS Biol, 2013 Oct. PMID 24130457, Free PMC Article
    2. Genetic and structural analysis of the basolateral amygdala complex in BXD recombinant inbred mice. Mozhui K, et al. Behav Genet, 2007 Jan. PMID 17131200
    3. Distinct and separable activities of the endocytic clathrin-coat components Fcho1/2 and AP-2 in developmental patterning. Umasankar PK, et al. Nat Cell Biol, 2012 Apr 8. PMID 22484487, Free PMC Article
    4. High-throughput mapping of a dynamic signaling network in mammalian cells. Barrios-Rodiles M, et al. Science, 2005 Mar 11. PMID 15761153
    5. Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2004 Jun 30. PMID 15368895

    See all (18) 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 (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0290

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables AP-2 adaptor complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in T cell receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in clathrin coat assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in clathrin coat assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in clathrin-dependent endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in clathrin-dependent endocytosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of T cell activation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in clathrin-coated pit IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in clathrin-coated pit ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in clathrin-coated vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    F-BAR domain only protein 1

    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_028715.3 → NP_082991.3  F-BAR domain only protein 1

      See identical proteins and their annotated locations for NP_082991.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the functional protein.
      Source sequence(s)
      AK137333, BU614854, BY274600, BY601220
      Consensus CDS
      CCDS52588.1
      UniProtKB/Swiss-Prot
      D3Z3Q5, Q8K285
      Related
      ENSMUSP00000091151.7, ENSMUST00000093444.13
      Conserved Domains (2) summary
      cd07674
      Location:10 → 270
      F-BAR_FCHO1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of FCH domain Only 1 protein
      cl10970
      Location:611 → 872
      AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)

    RNA

    1. NR_028267.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate, internal segment, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK014382, AK137333, BU614854, BY274600, BY601220
      Related
      ENSMUST00000143699.8

    2. NR_131256.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA014311, AK014382, AK137333, BY274600, BY601220
      Related
      ENSMUST00000136640.8

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      72161031..72181980 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030243805.2 → XP_030099665.1  F-BAR domain only protein 1 isoform X1

      UniProtKB/Swiss-Prot
      D3Z3Q5, Q8K285
      Conserved Domains (2) summary
      cd07674
      Location:10 → 270
      F-BAR_FCHO1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of FCH domain Only 1 protein
      cl10970
      Location:611 → 872
      AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)

    2. XM_011242331.3 → XP_011240633.1  F-BAR domain only protein 1 isoform X3

      Conserved Domains (2) summary
      cd07674
      Location:10 → 270
      F-BAR_FCHO1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of FCH domain Only 1 protein
      cl10970
      Location:611 → 820
      AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)

    3. XM_006509766.4 → XP_006509829.1  F-BAR domain only protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006509829.1

      UniProtKB/Swiss-Prot
      D3Z3Q5, Q8K285
      Conserved Domains (2) summary
      cd07674
      Location:10 → 270
      F-BAR_FCHO1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of FCH domain Only 1 protein
      cl10970
      Location:611 → 872
      AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)

    4. XM_030243806.1 → XP_030099666.1  F-BAR domain only protein 1 isoform X4

      Conserved Domains (1) summary
      cl10970
      Location:385 → 646
      AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)

    5. XM_006509767.4 → XP_006509830.1  F-BAR domain only protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006509830.1

      UniProtKB/Swiss-Prot
      D3Z3Q5, Q8K285
      Conserved Domains (2) summary
      cd07674
      Location:10 → 270
      F-BAR_FCHO1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of FCH domain Only 1 protein
      cl10970
      Location:611 → 872
      AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)

    6. XM_006509765.3 → XP_006509828.1  F-BAR domain only protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006509828.1

      UniProtKB/Swiss-Prot
      D3Z3Q5, Q8K285
      Conserved Domains (2) summary
      cd07674
      Location:10 → 270
      F-BAR_FCHO1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of FCH domain Only 1 protein
      cl10970
      Location:611 → 872
      AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)

    7. XM_006509770.5 → XP_006509833.1  F-BAR domain only protein 1 isoform X5

      Conserved Domains (1) summary
      cl10970
      Location:344 → 605
      AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)

    8. XM_036154324.1 → XP_036010217.1  F-BAR domain only protein 1 isoform X2

      Conserved Domains (2) summary
      cd07674
      Location:2 → 262
      F-BAR_FCHO1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of FCH domain Only 1 protein
      cl10970
      Location:603 → 864
      AP_MHD_Cterm; C-terminal domain of adaptor protein (AP) complexes medium mu subunits and its homologs (MHD)

    RNA

    1. XR_870464.3 RNA Sequence

    2. XR_001778482.2 RNA Sequence

    3. XR_003947348.1 RNA Sequence

    4. XR_003947347.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K285.2 GenPept UniProtKB/Swiss-Prot:Q8K285

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