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

Gene ID: 383075, updated on 5-Mar-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, Apr 2022]
Expression
Restricted expression toward testis adult (RPKM 10.5) See more
Orthologs
human all
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Genomic context

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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 (1) 

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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