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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
    mouse all
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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

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

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