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    Enthd1 ENTH domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 383075, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Enthd1provided by MGI
    Official Full Name
    ENTH domain containing 1provided by MGI
    Primary source
    MGI:MGI:2686088
    See related
    Ensembl:ENSMUSG00000050439 AllianceGenome:MGI:2686088
    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
    Gm86; Gm1242
    Summary
    Predicted to enable clathrin binding activity and phospholipid binding activity. Predicted to be involved in endocytosis. Predicted to be part of clathrin vesicle coat. Predicted to be active in endosome and plasma membrane. Orthologous to human ENTHD1 (ENTH domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis adult (RPKM 10.5) See more
    Orthologs
    human all
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    Genomic context

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    See Enthd1 in Genome Data Viewer
    Location:
    15 E1; 15 37.85 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (80335916..80449384, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (80451715..80565183, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 41363 Neighboring gene predicted gene, 31369 Neighboring gene predicted gene, 23220 Neighboring gene predicted gene, 19141 Neighboring gene STARR-seq mESC enhancer starr_39234 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:80402055-80402238 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:80402767-80403020 Neighboring gene GRB2-related adaptor protein 2 Neighboring gene STARR-seq mESC enhancer starr_39235 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:80460969-80461152 Neighboring gene STARR-positive B cell enhancer ABC_E942 Neighboring gene STARR-seq mESC enhancer starr_39236 Neighboring gene microRNA 6957 Neighboring gene STARR-seq mESC enhancer starr_39237 Neighboring gene RIKEN cDNA A430088P11 gene Neighboring gene family with sequence similarity 83, member F

    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. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
    2. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    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) 

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC189999

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables clathrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of clathrin vesicle coat IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ENTH domain-containing 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_001163189.1 → NP_001156661.1  ENTH domain-containing protein 1

      See identical proteins and their annotated locations for NP_001156661.1

      Status: VALIDATED

      Source sequence(s)
      AC123059, AC132291
      Consensus CDS
      CCDS49671.1
      UniProtKB/TrEMBL
      B2RY64, E9Q1Z2
      Related
      ENSMUSP00000094072.4, ENSMUST00000096347.4
      Conserved Domains (1) summary
      cd16990
      Location:16 → 139
      ENTH_Epsin; Epsin N-Terminal Homology (ENTH) domain of Epsin family

    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_000081.7 Reference GRCm39 C57BL/6J

      Range
      80335916..80449384 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030248626.1 → XP_030104486.1  ENTH domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      B2RY64
      Conserved Domains (1) summary
      cd16990
      Location:16 → 139
      ENTH_Epsin; Epsin N-Terminal Homology (ENTH) domain of Epsin family

    2. XM_006521134.3 → XP_006521197.1  ENTH domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006521197.1

      UniProtKB/TrEMBL
      B2RY64, E9Q1Z2
      Related
      ENSMUSP00000155166.2, ENSMUST00000229110.2
      Conserved Domains (1) summary
      cd16990
      Location:16 → 139
      ENTH_Epsin; Epsin N-Terminal Homology (ENTH) domain of Epsin family

    3. XM_017316685.2 → XP_017172174.1  ENTH domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      B2RY64
      Conserved Domains (1) summary
      cd16990
      Location:16 → 139
      ENTH_Epsin; Epsin N-Terminal Homology (ENTH) domain of Epsin family

    4. XM_011245686.2 → XP_011243988.1  ENTH domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011243988.1

      UniProtKB/TrEMBL
      B2RY64, E9Q1Z2
      Conserved Domains (1) summary
      cd16990
      Location:16 → 139
      ENTH_Epsin; Epsin N-Terminal Homology (ENTH) domain of Epsin family

    5. XM_017316687.1 → XP_017172176.1  ENTH domain-containing protein 1 isoform X4

      Conserved Domains (1) summary
      cd16990
      Location:16 → 139
      ENTH_Epsin; Epsin N-Terminal Homology (ENTH) domain of Epsin family

    6. XM_017316686.1 → XP_017172175.1  ENTH domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      B2RY64
      Conserved Domains (2) summary
      PHA03247
      Location:240 → 463
      PHA03247; large tegument protein UL36; Provisional
      cd16990
      Location:16 → 139
      ENTH_Epsin; Epsin N-Terminal Homology (ENTH) domain of Epsin family

    7. XM_017316688.1 → XP_017172177.1  ENTH domain-containing protein 1 isoform X5

      Conserved Domains (1) summary
      cd16990
      Location:16 → 139
      ENTH_Epsin; Epsin N-Terminal Homology (ENTH) domain of Epsin family
    Nucleotide Protein Strain
    Heading Accession and Version

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