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ENKUR enkurin, TRPC channel interacting protein [ Homo sapiens (human) ]

Gene ID: 219670, updated on 2-Nov-2024

Summary

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Official Symbol
ENKURprovided by HGNC
Official Full Name
enkurin, TRPC channel interacting proteinprovided by HGNC
Primary source
HGNC:HGNC:28388
See related
Ensembl:ENSG00000151023 MIM:611025; AllianceGenome:HGNC:28388
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CFAP106; C10orf63
Summary
This gene encodes a protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
Expression
Biased expression in brain (RPKM 2.4), testis (RPKM 1.9) and 7 other tissues See more
Orthologs
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Genomic context

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See ENKUR in Genome Data Viewer
Location:
10p12.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (24981985..25062327, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (25000242..25080555, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (25270914..25351256, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376456 Neighboring gene MPRA-validated peak910 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:25051766-25052318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3160 Neighboring gene phosphoribosyl transferase domain containing 1 Neighboring gene NFE2L2 motif-containing MPRA enhancer 245 Neighboring gene RN7SK pseudogene 241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2229 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:25305216-25305978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3161 Neighboring gene threonine synthase like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3162 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:25348855-25350054 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:25350646-25351845 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:25356859-25358058 Neighboring gene NANOG hESC enhancer GRCh37_chr10:25394727-25395330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2233 Neighboring gene long intergenic non-protein coding RNA 1516 Neighboring gene GPR158 antisense RNA 1 Neighboring gene G protein-coupled receptor 158 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:25542036-25542637 Neighboring gene RN7SK pseudogene 220

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 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. Enkurin: a novel marker for myeloproliferative neoplasms from platelet, megakaryocyte, and whole blood specimens. Seetharam SM, et al. Blood Adv, 2023 Sep 26. PMID 37315179, Free PMC Article
  2. Canonical transient receptor potential 5. Beech DJ. Handb Exp Pharmacol, 2007. PMID 17217053
  3. ENKUR Is Involved in the Regulation of Cellular Biology in Colorectal Cancer Cells via PI3K/Akt Signaling Pathway. Ma Q, et al. Technol Cancer Res Treat, 2019 Jan 1. PMID 30947633, Free PMC Article
  4. ENKUR recruits FBXW7 to ubiquitinate and degrade MYH9 and further suppress MYH9-induced deubiquitination of β-catenin to block gastric cancer metastasis. Liu J, et al. MedComm (2020), 2022 Dec. PMID 36448053, Free PMC Article
  5. ENKUR expression induced by chemically synthesized cinobufotalin suppresses malignant activities of hepatocellular carcinoma by modulating β-catenin/c-Jun/MYH9/USP7/c-Myc axis. Hou R, et al. Int J Biol Sci, 2022. PMID 35414777, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Enkurin: a novel marker for myeloproliferative neoplasms from platelet, megakaryocyte, and whole blood specimens.
    Title: Enkurin: a novel marker for myeloproliferative neoplasms from platelet, megakaryocyte, and whole blood specimens.
  2. ENKUR expression induced by chemically synthesized cinobufotalin suppresses malignant activities of hepatocellular carcinoma by modulating beta-catenin/c-Jun/MYH9/USP7/c-Myc axis.
    Title: ENKUR expression induced by chemically synthesized cinobufotalin suppresses malignant activities of hepatocellular carcinoma by modulating β-catenin/c-Jun/MYH9/USP7/c-Myc axis.
  3. Decreased ENKUR expression is associated with Colorectal Cancer.
    Title: ENKUR Is Involved in the Regulation of Cellular Biology in Colorectal Cancer Cells via PI3K/Akt Signaling Pathway.
  4. Data suggest that enkurin is an adaptor that functions to localize a Ca2+ sensitive signal transduction machinery in sperm to a Ca2+-permeable ion channel [enkurin]
    Title: Enkurin is a novel calmodulin and TRPC channel binding protein in sperm.
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

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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Markers

Homology

Clone Names

  • MGC26778, DKFZp781F21103

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SH3 domain binding IEA
Inferred from Electronic Annotation
more info
  
enables calmodulin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in establishment of left/right asymmetry IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in flagellated sperm motility ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in 9+0 motile cilium IEA
Inferred from Electronic Annotation
more info
  
located_in 9+2 motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in acrosomal vesicle IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in axonemal B tubule inner sheath ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in axonemal microtubule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in axonemal microtubule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in axonemal microtubule ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in sperm flagellum ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in sperm principal piece IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
enkurin

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_001270383.2 → NP_001257312.1  enkurin isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon structure in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK095021, AL512598, BM979174
    Consensus CDS
    CCDS73075.1
    UniProtKB/TrEMBL
    A0A087WUX1
    Related
    ENSP00000478989.1, ENST00000615958.4
    Conserved Domains (1) summary
    pfam13864
    Location:90 → 184
    Enkurin; Calmodulin-binding

  2. NM_145010.4 → NP_659447.1  enkurin isoform 1

    See identical proteins and their annotated locations for NP_659447.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    AK095021, AL512598, BC026165, BM979174
    Consensus CDS
    CCDS7146.1
    UniProtKB/Swiss-Prot
    A8K8Y0, D3DRV2, Q8TC29
    UniProtKB/TrEMBL
    Q5VV23
    Related
    ENSP00000331044.4, ENST00000331161.9
    Conserved Domains (1) summary
    pfam13864
    Location:152 → 246
    Enkurin; Calmodulin-binding

RNA

  1. NR_072992.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate segment in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL512598, BC026165, BM979174

  2. NR_072993.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks three alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK095021, AL512598, BC026165, BM979174, DA285403

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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    24981985..25062327 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    25000242..25080555 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TC29.1 GenPept UniProtKB/Swiss-Prot:Q8TC29

Gene LinkOut

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