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

Gene ID: 84080, updated on 13-Feb-2019

Summary

Official Symbol
ENKD1provided by HGNC
Official Full Name
enkurin domain containing 1provided by HGNC
Primary source
HGNC:HGNC:25246
See related
Ensembl:ENSG00000124074
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
C16orf48; DAKV6410
Expression
Broad expression in testis (RPKM 10.0), kidney (RPKM 6.5) and 25 other tissues See more
Orthologs

Genomic context

See ENKD1 in Genome Data Viewer
Location:
16q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (67662945..67667382, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67696850..67700628, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene capping protein regulator and myosin 1 linker 2 Neighboring gene par-6 family cell polarity regulator alpha Neighboring gene chromosome 16 open reading frame 86 Neighboring gene ACD shelterin complex subunit and telomerase recruitment factor Neighboring gene glucose-fructose oxidoreductase domain containing 2 Neighboring gene RAN binding protein 10 Neighboring gene translin associated factor X interacting protein 1

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • DKFZp434A1319

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasmic microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic microtubule IDA
Inferred from Direct Assay
more info
PubMed 
microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
enkurin domain-containing protein 1

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_032140.3NP_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
    Q9H0I2
    Related
    ENSP00000243878.4, ENST00000243878.8
    Conserved Domains (1) summary
    pfam13864
    Location:243337
    Enkurin; Calmodulin-binding

RNA

  1. NR_138150.1 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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    67662945..67667382 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450469.1XP_024306237.1  enkurin domain-containing protein 1 isoform X1

    Conserved Domains (1) summary
    pfam13864
    Location:201295
    Enkurin; Calmodulin-binding
  2. XM_024450470.1XP_024306238.1  enkurin domain-containing protein 1 isoform X2

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