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

Gene ID: 84080, updated on 7-Apr-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
Located in cytoplasmic microtubule. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 10.0), kidney (RPKM 6.5) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
16q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (67662945..67666750, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (73457713..73461518, complement)
105.20220307 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 (35) 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)

Genotypes

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_2023_10

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

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