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    Tepsin TEPSIN, adaptor related protein complex 4 accessory protein [ Mus musculus (house mouse) ]

    Gene ID: 78777, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Tepsinprovided by MGI
    Official Full Name
    TEPSIN, adaptor related protein complex 4 accessory proteinprovided by MGI
    Primary source
    MGI:MGI:1926027
    See related
    Ensembl:ENSMUSG00000025377 AllianceGenome:MGI:1926027
    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
    Enthd2; 2410002I01Rik
    Summary
    Predicted to be located in coated vesicle membrane. Predicted to be extrinsic component of organelle membrane. Predicted to be part of AP-4 adaptor complex. Predicted to be active in trans-Golgi network membrane. Orthologous to human TEPSIN (TEPSIN adaptor related protein complex 4 accessory protein). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in duodenum adult (RPKM 30.8), small intestine adult (RPKM 19.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tepsin in Genome Data Viewer
    Location:
    11 E2; 11 83.96 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (119981348..119989675, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (120090522..120098880, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene apoptosis-associated tyrosine kinase Neighboring gene microRNA 3065 Neighboring gene microRNA 338 Neighboring gene centrosomal protein 131 Neighboring gene STARR-positive B cell enhancer ABC_E4021 Neighboring gene STARR-positive B cell enhancer ABC_E206 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 8 Neighboring gene solute carrier family 38, member 10 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:120011125-120011308 Neighboring gene STARR-positive B cell enhancer ABC_E382 Neighboring gene predicted gene 11769

    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. Impaired Spermatogenesis, Muscle, and Erythrocyte Function in U12 Intron Splicing-Defective Zrsr1 Mutant Mice. Horiuchi K, et al. Cell Rep, 2018 Apr 3. PMID 29617656
    2. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. Ingham NJ, et al. PLoS Biol, 2019 Apr. PMID 30973865, Free PMC Article
    3. High-throughput discovery of novel developmental phenotypes. Dickinson ME, et al. Nature, 2016 Sep 22. PMID 27626380, Free PMC Article
    4. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, 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)
    • Targeted (2) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein-containing complex binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    part_of AP-4 adaptor complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in coated vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in coated vesicle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extrinsic component of organelle membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in organelle membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in trans-Golgi network membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in trans-Golgi network membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    AP-4 complex accessory subunit tepsin
    Names
    ENTH domain containing 2
    ENTH domain-containing protein 2
    protein C17orf56 homolog
    tetra-epsin

    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_183137.2 → NP_898960.2  AP-4 complex accessory subunit tepsin

      See identical proteins and their annotated locations for NP_898960.2

      Status: VALIDATED

      Source sequence(s)
      AK019105, BB868415, BC049110, BC094318, BY084429, BY665064
      Consensus CDS
      CCDS36387.1
      UniProtKB/Swiss-Prot
      Q3U3N6, Q8C1H2
      UniProtKB/TrEMBL
      B1AXJ1, B2RPS6
      Related
      ENSMUSP00000091428.6, ENSMUST00000093901.12
      Conserved Domains (1) summary
      cd03572
      Location:15 → 134
      ENTH_epsin_related; ENTH domain, Epsin Related family; composed of hypothetical proteins containing an ENTH-like domain. The epsin N-terminal homology (ENTH) domain is an evolutionarily conserved protein module found primarily in proteins that participate in ...

    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
      119981348..119989675 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011249318.4 → XP_011247620.1  AP-4 complex accessory subunit tepsin isoform X3

    2. XM_006534514.5 → XP_006534577.1  AP-4 complex accessory subunit tepsin isoform X2

      See identical proteins and their annotated locations for XP_006534577.1

      UniProtKB/TrEMBL
      B1AXJ1
      Conserved Domains (1) summary
      cl02544
      Location:26 → 58
      VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily

    3. XM_006534512.5 → XP_006534575.1  AP-4 complex accessory subunit tepsin isoform X1

      UniProtKB/TrEMBL
      B1AXJ1
      Conserved Domains (2) summary
      PHA03379
      Location:380 → 548
      PHA03379; EBNA-3A; Provisional
      cd03572
      Location:24 → 117
      ENTH_like_Tepsin; Epsin N-Terminal Homology (ENTH)-like domain of AP-4 complex accessory subunit Tepsin and similar domains

    4. XM_006534513.3 → XP_006534576.1  AP-4 complex accessory subunit tepsin isoform X2

      See identical proteins and their annotated locations for XP_006534576.1

      UniProtKB/TrEMBL
      B1AXJ1
      Conserved Domains (1) summary
      cl02544
      Location:26 → 58
      VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3U3N6.1 GenPept UniProtKB/Swiss-Prot:Q3U3N6

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