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    ENKD1 enkurin domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 84080, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ENKD1provided by HGNC
    Official Full Name
    enkurin domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25246
    See related
    Ensembl:ENSG00000124074 AllianceGenome:HGNC:25246
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FBB11; C16orf48; DAKV6410
    Summary
    Enables alpha-tubulin binding activity and microtubule binding activity. Involved in establishment of mitotic spindle orientation and non-motile cilium assembly. Located in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 10.0), kidney (RPKM 6.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ENKD1 in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (67662945..67666750, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (73457713..73461518, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67696848..67700653, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene capping protein regulator and myosin 1 linker 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67693493-67694076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7619 Neighboring gene ACD shelterin complex subunit and telomerase recruitment factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7621 Neighboring gene par-6 family cell polarity regulator alpha Neighboring gene chromosome 16 open reading frame 86 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10979 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67710969-67711925 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67711926-67712881 Neighboring gene Gfo/Idh/MocA-like oxidoreductase domain containing 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:67717419-67718618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10980 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:67743233-67744011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67744012-67744789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7624

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Upregulation of ENKD1 disrupts cellular homeostasis to promote lymphoma development. Song T, et al. J Cell Physiol, 2023 Jun. PMID 36960713
    2. Enkurin domain containing 1 (ENKD1) regulates the proliferation, migration and invasion of non-small cell lung cancer cells. Song T, et al. Asia Pac J Clin Oncol, 2022 Apr. PMID 33724673
    3. 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
    4. 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
    5. Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways. Sigg MA, et al. Dev Cell, 2017 Dec 18. PMID 29257953, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Upregulation of ENKD1 disrupts cellular homeostasis to promote lymphoma development.
      Title: Upregulation of ENKD1 disrupts cellular homeostasis to promote lymphoma development.
    2. Enkurin domain containing 1 (ENKD1) regulates the proliferation, migration and invasion of non-small cell lung cancer cells.
      Title: Enkurin domain containing 1 (ENKD1) regulates the proliferation, migration and invasion of non-small cell lung cancer cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • DKFZp434A1319

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-tubulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in establishment of mitotic spindle orientation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in motile cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in 9+0 non-motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary base IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasmic microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic microtubule IDA
    Inferred from Direct Assay
    more info
    		  
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    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_032140.3 → NP_115516.1  enkurin domain-containing protein 1

      See identical proteins and their annotated locations for NP_115516.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and is the protein-coding variant.
      Source sequence(s)
      AL136786, CA416982, DA571420
      Consensus CDS
      CCDS10844.1
      UniProtKB/Swiss-Prot
      Q6UWD7, Q9H0I2
      Related
      ENSP00000243878.4, ENST00000243878.9
      Conserved Domains (1) summary
      pfam13864
      Location:243 → 337
      Enkurin; Calmodulin-binding

    RNA

    1. NR_138150.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC010530

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      67662945..67666750 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024450469.2 → XP_024306237.1  enkurin domain-containing protein 1 isoform X1

      Conserved Domains (1) summary
      pfam13864
      Location:201 → 295
      Enkurin; Calmodulin-binding

    2. XM_024450470.2 → XP_024306238.1  enkurin domain-containing protein 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      73457713..73461518 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314138.1 → XP_054170113.1  enkurin domain-containing protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0I2.1 GenPept UniProtKB/Swiss-Prot:Q9H0I2

    Gene LinkOut

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

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