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    Enkd1 enkurin domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 102124, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Enkd1provided by MGI
    Official Full Name
    enkurin domain containing 1provided by MGI
    Primary source
    MGI:MGI:2142593
    See related
    Ensembl:ENSMUSG00000013155 AllianceGenome:MGI:2142593
    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
    E130303B06Rik
    Summary
    Predicted to enable alpha-tubulin binding activity and microtubule binding activity. Involved in motile cilium assembly and non-motile cilium assembly. Located in 9+0 non-motile cilium; ciliary base; and microtubule organizing center. Is expressed in several structures, including adrenal gland; brain ventricular layer; ileum; male reproductive gland or organ; and sensory organ. Orthologous to human ENKD1 (enkurin domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis adult (RPKM 33.5), CNS E11.5 (RPKM 14.3) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Enkd1 in Genome Data Viewer
    Location:
    8 D3; 8 53.04 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (106430281..106435358, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (105703649..105708221, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene capping protein regulator and myosin 1 linker 2 Neighboring gene STARR-positive B cell enhancer ABC_E3798 Neighboring gene RIKEN cDNA 4933405L10 gene Neighboring gene STARR-positive B cell enhancer ABC_E6678 Neighboring gene par-6 family cell polarity regulator alpha Neighboring gene adrenocortical dysplasia Neighboring gene glucose-fructose oxidoreductase domain containing 2 Neighboring gene STARR-positive B cell enhancer ABC_E8850 Neighboring gene RAN binding protein 10 Neighboring gene STARR-positive B cell enhancer ABC_E2272 Neighboring gene translin-associated factor X (Tsnax) interacting protein 1

    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. ENKD1 promotes epidermal stratification by regulating spindle orientation in basal keratinocytes. Zhong T, et al. Cell Death Differ, 2022 Sep. PMID 35197565, Free PMC Article
    2. ENKD1 promotes CP110 removal through competing with CEP97 to initiate ciliogenesis. Song T, et al. EMBO Rep, 2022 May 4. PMID 35301795, Free PMC Article
    3. Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways. Sigg MA, et al. Dev Cell, 2017 Dec 18. PMID 29257953, Free PMC Article
    4. Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator. Keegan CE, et al. Hum Mol Genet, 2005 Jan 1. PMID 15537664
    5. Tissue expression patterns identify mouse cilia genes. McClintock TS, et al. Physiol Genomics, 2008 Jan 17. PMID 17971504

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ENKD1 promotes epidermal stratification by regulating spindle orientation in basal keratinocytes.
      Title: ENKD1 promotes epidermal stratification by regulating spindle orientation in basal keratinocytes.
    2. ENKD1 promotes CP110 removal through competing with CEP97 to initiate ciliogenesis.
      Title: ENKD1 promotes CP110 removal through competing with CEP97 to initiate ciliogenesis.
    3. E130303B06Rik is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons, and is predicted to be important to cilia.
      Title: Tissue expression patterns identify mouse cilia genes.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2)  1 citation
    • Targeted (2) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables alpha-tubulin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables alpha-tubulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables microtubule binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in establishment of mitotic spindle orientation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in establishment of mitotic spindle orientation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in non-motile cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in 9+0 non-motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriole ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary base IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasmic microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic microtubule ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in microtubule cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in spindle pole IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    enkurin 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_198299.2 → NP_938041.1  enkurin domain-containing protein 1

      See identical proteins and their annotated locations for NP_938041.1

      Status: VALIDATED

      Source sequence(s)
      AC152826
      Consensus CDS
      CCDS22610.1
      UniProtKB/Swiss-Prot
      Q7TSV9
      Related
      ENSMUSP00000013299.10, ENSMUST00000013299.11
      Conserved Domains (1) summary
      pfam13864
      Location:243 → 337
      Enkurin; Calmodulin-binding

    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
      106430281..106435358 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530544.2 → XP_006530607.1  enkurin domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006530607.1

      UniProtKB/Swiss-Prot
      Q7TSV9
      Conserved Domains (1) summary
      pfam13864
      Location:243 → 337
      Enkurin; Calmodulin-binding

    2. XM_036153705.1 → XP_036009598.1  enkurin domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q7TSV9
      Conserved Domains (1) summary
      pfam13864
      Location:243 → 337
      Enkurin; Calmodulin-binding

    3. XM_006530543.2 → XP_006530606.1  enkurin domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006530606.1

      UniProtKB/Swiss-Prot
      Q7TSV9
      Related
      ENSMUST00000212716.2
      Conserved Domains (1) summary
      pfam13864
      Location:243 → 337
      Enkurin; Calmodulin-binding

    RNA

    1. XR_387725.2 RNA Sequence

    2. XR_004934741.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7TSV9.1 GenPept UniProtKB/Swiss-Prot:Q7TSV9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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