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    Pheta1 PH domain containing endocytic trafficking adaptor 1 [ Mus musculus (house mouse) ]

    Gene ID: 231717, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Pheta1provided by MGI
    Official Full Name
    PH domain containing endocytic trafficking adaptor 1provided by MGI
    Primary source
    MGI:MGI:2442708
    See related
    Ensembl:ENSMUSG00000044134 AllianceGenome:MGI:2442708
    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
    Ses1; Fam109a; IPIP27A; A230106M15Rik
    Summary
    Predicted to enable protein homodimerization activity. Predicted to be involved in endosome organization; receptor recycling; and retrograde transport, endosome to Golgi. Predicted to be located in clathrin-coated vesicle. Predicted to be active in early endosome; recycling endosome; and trans-Golgi network. Orthologous to human PHETA1 (PH domain containing endocytic trafficking adaptor 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in duodenum adult (RPKM 102.0), small intestine adult (RPKM 80.8) and 16 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pheta1 in Genome Data Viewer
    Location:
    5 F; 5 62.01 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (121987060..121992667)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (121848997..121854604)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene microRNA 7031 Neighboring gene SH2B adaptor protein 3 Neighboring gene STARR-positive B cell enhancer mm9_chr5:122298757-122299058 Neighboring gene predicted gene, 32422 Neighboring gene cut-like homeobox 2 Neighboring gene predicted gene, 52785 Neighboring gene uncharacterized LOC118568726 Neighboring gene predicted gene, 52786

    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. Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1. Swan LE, et al. Proc Natl Acad Sci U S A, 2010 Feb 23. PMID 20133602, Free PMC Article
    2. 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
    3. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249
    4. BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. Magdaleno S, et al. PLoS Biol, 2006 Apr. PMID 16602821, Free PMC Article
    5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

    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 (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in endosome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endosome organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in receptor recycling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in receptor recycling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde transport, endosome to Golgi ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in clathrin-coated vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in early endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in recycling endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in trans-Golgi network ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    sesquipedalian-1
    Names
    27 kDa inositol polyphosphate phosphatase interacting protein A
    family with sequence similarity 109, member A

    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_001359949.1 → NP_001346878.1  sesquipedalian-1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AC113302
      Consensus CDS
      CCDS19642.1
      UniProtKB/Swiss-Prot
      Q8BH49
      Conserved Domains (1) summary
      cd13288
      Location:11 → 130
      PH_Ses; Sesquipedalian family Pleckstrin homology (PH) domain

    2. NM_001359950.1 → NP_001346879.1  sesquipedalian-1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AC113302, AK039192
      Consensus CDS
      CCDS19642.1
      UniProtKB/Swiss-Prot
      Q8BH49
      Related
      ENSMUSP00000143110.2, ENSMUST00000198271.5
      Conserved Domains (1) summary
      cd13288
      Location:11 → 130
      PH_Ses; Sesquipedalian family Pleckstrin homology (PH) domain

    3. NM_175474.4 → NP_780683.1  sesquipedalian-1

      See identical proteins and their annotated locations for NP_780683.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
      Source sequence(s)
      AK039192, BE993987, BY347960
      Consensus CDS
      CCDS19642.1
      UniProtKB/Swiss-Prot
      Q8BH49
      Related
      ENSMUSP00000062386.4, ENSMUST00000056654.8
      Conserved Domains (1) summary
      cd13288
      Location:11 → 130
      PH_Ses; Sesquipedalian family Pleckstrin homology (PH) domain

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      121987060..121992667
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BH49.1 GenPept UniProtKB/Swiss-Prot:Q8BH49

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