ENKD1 (enkurin domain containing 1)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Diseases linked via similar genes

Gene

• Entrez ID: 84080
• Gene name: Enkurin domain containing 1
• Gene symbol: ENKD1
• Synonyms (NCBI Gene): C16orf48, DAKV6410, FBB11
• Chromosome: 16
• Chromosome location: 16q22.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT041855	hsa-miR-484	CLASH	23622248
MIRT041451	hsa-miR-193b-3p	CLASH	23622248

Gene ontology (GO) Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000132	Process	Establishment of mitotic spindle orientation	IMP	35197565
GO:0000922	Component	Spindle pole	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 19447967, 21516116, 25416956, 26496610, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	35301795
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	35301795
GO:0005814	Component	Centriole	IEA
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005881	Component	Cytoplasmic microtubule	IBA
GO:0005881	Component	Cytoplasmic microtubule	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IDA
GO:0005929	Component	Cilium	IEA
GO:0008017	Function	Microtubule binding	IDA	35197565
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0036064	Component	Ciliary basal body	IDA	35301795
GO:0036064	Component	Ciliary basal body	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043014	Function	Alpha-tubulin binding	IDA	35197565
GO:0044458	Process	Motile cilium assembly	IEA
GO:0044458	Process	Motile cilium assembly	ISS
GO:0097546	Component	Ciliary base	IEA
GO:0097731	Component	9+0 non-motile cilium	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1905515	Process	Non-motile cilium assembly	IMP	35301795

Other IDs

• MIM: 621119
• HGNC: 25246
• e!Ensembl: ENSG00000124074

Protein

• UniProt ID: Q9H0I2
• Protein name: Enkurin domain-containing protein 1
• Protein function: Microtubule-binding protein which regulates microtubule organization and stability (PubMed:35072334, PubMed:35197565). Promotes the stability of astral microtubules and facilitates the proper orientation of the mitotic spindle (PubMed:35197565).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13864	Enkurin	243 → 339	Calmodulin-binding	Family

• Sequence:

  MCEGPSRISGPIPPDPTLCPDNYRRPTSAQGRLEGNALKLDLLTSDRALDTTAPRGPCIG
  PGAGEILERGQRGVGDVLLQLEGISLGPGASLKRKDPKDHEKENLRRIREIQKRFREQER
  SREQGQPRPLKALWRSPKYDKVESRVKAQLQEPGPASGTESAHFLRAHSRCGPGLPPPHV
  SSPQPTPPGPEAKEPGLGVDFIRHNARAAKRAPRRHSCSLQVLAQVLEQQRQAQEHYNAT
  QKGHVPHYLLERRDLWRREAEARKQSQPDPAMPPGHTRMPENQRLETLTKLLQSQSQLLR
  ELVLLPAGADSLRAQSHRAELDRKLVQVEEAIKIFSRPKVFVKMDD

• Sequence length: 346

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

No strongly related genes found yet for ENKD1.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to ENKD1.