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

    Gene ID: 219670, updated on 17-Jun-2019

    Summary

    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
    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

    Genomic context

    See ENKUR in Genome Data Viewer
    Location:
    10p12.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (24981979..25062279, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (25270908..25351208, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene phosphoribosyl transferase domain containing 1 Neighboring gene NFE2L2 motif-containing MPRA enhancer 245 Neighboring gene RN7SK pseudogene 241 Neighboring gene threonine synthase like 1 Neighboring gene Sharpr-MPRA regulatory region 97 Neighboring gene long intergenic non-protein coding RNA 1516 Neighboring gene GPR158 antisense RNA 1 Neighboring gene G protein-coupled receptor 158 Neighboring gene RN7SK pseudogene 220

    Genomic regions, transcripts, and products

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC26778, DKFZp781F21103

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    calmodulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    acrosomal vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sperm principal piece IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    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_001270383.1NP_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/Swiss-Prot
      Q8TC29
      UniProtKB/TrEMBL
      A0A087WUX1
      Related
      ENSP00000478989.1, ENST00000615958.4
      Conserved Domains (1) summary
      pfam13864
      Location:90184
      Enkurin; Calmodulin-binding
    2. NM_145010.4NP_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
      Q8TC29
      Related
      ENSP00000331044.4, ENST00000331161.9
      Conserved Domains (1) summary
      pfam13864
      Location:152246
      Enkurin; Calmodulin-binding

    RNA

    1. NR_072992.1 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)
      BC026165, BM979174
    2. NR_072993.1 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, BC026165, BM979174, DA285403

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      24981979..25062279 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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