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Aliases for ENKD1 Gene

Aliases for ENKD1 Gene

  • Enkurin Domain Containing 1 2 3 5
  • C16orf48 3 4
  • Chromosome 16 Open Reading Frame 48 2
  • Enkurin Domain-Containing Protein 1 3
  • DAKV6410 3

External Ids for ENKD1 Gene

Previous HGNC Symbols for ENKD1 Gene

  • C16orf48

Summaries for ENKD1 Gene

GeneCards Summary for ENKD1 Gene

ENKD1 (Enkurin Domain Containing 1) is a Protein Coding gene.

Gene Wiki entry for ENKD1 Gene

Additional gene information for ENKD1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENKD1 Gene

Genomics for ENKD1 Gene

Regulatory Elements for ENKD1 Gene

Enhancers for ENKD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H067555 1.5 Ensembl ENCODE dbSUPER 68.2 +111.0 110957 1 ZNF493 ZFP64 ZNF121 FOS KLF7 ZNF202 ZC3H11A REST ZNF623 ZNF518A ZDHHC1 EDC4 CENPT ENSG00000260465 CTCF ENKD1 NAE1 E2F4 ENSG00000263276 ACD
GH16H067479 1.7 FANTOM5 ENCODE dbSUPER 31.9 +185.2 185213 4 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ZDHHC1 ENKD1 NAE1 ATP6V0D1 EDC4 CENPT CTCF SLC7A6OS E2F4 ENSG00000260465
GH16H067987 1.1 Ensembl ENCODE 46 -320.4 -320378 0 ELF3 ZNF493 ZFP64 ARID4B RAD21 KLF7 ZNF680 ZC3H11A REST ZNF518A ZDHHC1 EDC4 CENPT ENKD1 CTCF E2F4 FBXL8 ACD ENSG00000263276 KIAA0895L
GH16H068253 0.8 dbSUPER 46 -586.8 -586768 0 ZBTB21 ZFP64 ZNF140 ZNF266 ZNF697 RARA ZNF664 ZNF791 ZNF19 ZNF433 ZDHHC1 ENKD1 CTCF EDC4 CENPT SNTB2 CHTF8 ENSG00000263276 ENSG00000270165 THAP11
GH16H067841 1.2 ENCODE 29.3 -177.7 -177725 7 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF610 GLIS1 NBN ZDHHC1 ENKD1 NAE1 ZFP90 LOC100131303 RN7SKP118 RNU4-36P RANBP10 NFATC3 C16orf86
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ENKD1 on UCSC Golden Path with GeneCards custom track

Promoters for ENKD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000087166 565 1001 ATF1 MLX ARID4B SIN3A DMAP1 ETS1 SLC30A9 ZNF207 ZNF143 RUNX3

Genomic Location for ENKD1 Gene

Chromosome:
16
Start:
67,662,945 bp from pter
End:
67,667,265 bp from pter
Size:
4,321 bases
Orientation:
Minus strand

Genomic View for ENKD1 Gene

Genes around ENKD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENKD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENKD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENKD1 Gene

Proteins for ENKD1 Gene

  • Protein details for ENKD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0I2-ENKD1_HUMAN
    Recommended name:
    Enkurin domain-containing protein 1
    Protein Accession:
    Q9H0I2
    Secondary Accessions:
    • Q6UWD7

    Protein attributes for ENKD1 Gene

    Size:
    346 amino acids
    Molecular mass:
    38759 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ENKD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ENKD1 Gene

Post-translational modifications for ENKD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ENKD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ENKD1 Gene

Domains & Families for ENKD1 Gene

Gene Families for ENKD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ENKD1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ENKD1: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for ENKD1 Gene

Function for ENKD1 Gene

Phenotypes From GWAS Catalog for ENKD1 Gene

Gene Ontology (GO) - Molecular Function for ENKD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with ENKD1: view

Phenotypes for ENKD1 Gene

GenomeRNAi human phenotypes for ENKD1:
genes like me logo Genes that share phenotypes with ENKD1: view

Animal Model Products

CRISPR Products

miRNA for ENKD1 Gene

miRTarBase miRNAs that target ENKD1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ENKD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ENKD1 Gene

Localization for ENKD1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ENKD1 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
plasma membrane 2
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
  • Centrosome (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ENKD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005881 cytoplasmic microtubule IDA 23264731
GO:0015630 microtubule cytoskeleton IDA --
genes like me logo Genes that share ontologies with ENKD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ENKD1 Gene

Pathways & Interactions for ENKD1 Gene

SuperPathways for ENKD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ENKD1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ENKD1 Gene

Drugs & Compounds for ENKD1 Gene

No Compound Related Data Available

Transcripts for ENKD1 Gene

Unigene Clusters for ENKD1 Gene

Enkurin domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ENKD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ENKD1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c
SP1: - - - -
SP2: - - - -
SP3: - -
SP4: - - -
SP5: - - -
SP6: - - - - - - -
SP7:

Relevant External Links for ENKD1 Gene

GeneLoc Exon Structure for
ENKD1
ECgene alternative splicing isoforms for
ENKD1

Expression for ENKD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ENKD1 Gene

mRNA differential expression in normal tissues according to GTEx for ENKD1 Gene

This gene is overexpressed in Pancreas (x4.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ENKD1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ENKD1 Gene:

ENKD1

SOURCE GeneReport for Unigene cluster for ENKD1 Gene:

Hs.729159
genes like me logo Genes that share expression patterns with ENKD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENKD1 Gene

Orthologs for ENKD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ENKD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENKD1 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ENKD1 33 34
  • 87.73 (n)
cow
(Bos Taurus)
Mammalia ENKD1 33 34
  • 87.54 (n)
rat
(Rattus norvegicus)
Mammalia Enkd1 33
  • 84.64 (n)
mouse
(Mus musculus)
Mammalia Enkd1 33 16 34
  • 83.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ENKD1 34
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ENKD1 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves C11H16ORF48 33
  • 65.41 (n)
ENKD1 34
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENKD1 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia enkd1 33
  • 55.23 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-220d9.3 33
  • 57.19 (n)
ENKD1 34
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11125 34
  • 19 (a)
OneToOne
Species where no ortholog for ENKD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ENKD1 Gene

ENSEMBL:
Gene Tree for ENKD1 (if available)
TreeFam:
Gene Tree for ENKD1 (if available)

Paralogs for ENKD1 Gene

No data available for Paralogs for ENKD1 Gene

Variants for ENKD1 Gene

Sequence variations from dbSNP and Humsavar for ENKD1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1002497400 -- 67,664,480(+) ACACT(C/T)CCACC intron-variant
rs1002798011 -- 67,665,023(+) GACTC(C/T)ACCTT upstream-variant-2KB, reference, synonymous-codon
rs1003259727 -- 67,667,385(+) GCTTC(C/G)GAGTC upstream-variant-2KB, reference, synonymous-codon
rs1004170418 -- 67,668,722(+) CTTTG(G/T)TCTTG upstream-variant-2KB, utr-variant-3-prime
rs1004685099 -- 67,667,518(+) GAAAG(C/T)CTGTC upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ENKD1 Gene

Variant ID Type Subtype PubMed ID
nsv522852 CNV gain 19592680
nsv524363 CNV loss 19592680
nsv952046 CNV deletion 24416366

Variation tolerance for ENKD1 Gene

Residual Variation Intolerance Score: 81.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.35; 53.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ENKD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENKD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENKD1 Gene

Disorders for ENKD1 Gene

Relevant External Links for ENKD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ENKD1

No disorders were found for ENKD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ENKD1 Gene

Publications for ENKD1 Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 60
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) Kırlı K … Görlich D (eLife 2015) 3 60

Products for ENKD1 Gene

Sources for ENKD1 Gene

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