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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

No data available for Entrez Gene 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
GH16F067550 1.2 Ensembl ENCODE 47.4 +113.1 113132 6.3 ZFP64 ZNF493 ZNF121 KLF7 FOS ZNF202 ZNF263 REST ZNF518A ZNF623 ZDHHC1 ENSG00000260465 CENPT E2F4 ENKD1 ENSG00000263276 ACD ENSG00000270165 FBXL8 KIAA0895L
GH16F067520 1.4 Ensembl ENCODE 36.6 +145.8 145833 1.6 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZDHHC1 ENSG00000260465 CENPT ENKD1 E2F4 ENSG00000263276 FBXL8 KIAA0895L PLEKHG4 ACD
GH16F067987 1.1 Ensembl ENCODE 25.1 -320.4 -320378 1.0 ELF3 ZFP64 ZNF493 ARID4B ZNF48 RAD21 KLF7 ZNF680 REST ZNF518A ZDHHC1 FBXL8 CENPT E2F4 ENKD1 KIAA0895L ACD ENSG00000263276 PSKH1 PLEKHG4
GH16F068220 0.8 ENCODE 23.8 -553.5 -553504 1.4 ZFP64 ZSCAN9 ZNF680 ZNF654 ZBTB11 CEBPB REST ZNF623 ZNF781 ZNF518A ZDHHC1 CHTF8 CENPT PRMT7 ENKD1 ENSG00000263276 PSKH1 PLEKHG4 ENSG00000262514 ENSG00000212445
GH16F067545 1.6 FANTOM5 Ensembl ENCODE 10.9 +119.2 119177 5.3 HDGF WRNIP1 ARID4B ZNF2 YY1 ZNF121 ZNF143 SP5 MIER2 REST HSD11B2 CARMIL2 E2F4 RANBP10 ATP6V0D1 FAM65A THAP11 ACD PARD6A ENSG00000262514
- 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
ENSR00000272786 765 1401 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF48 ETS1 SLC30A9 ZNF207 ZNF143

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

Protein Domains for ENKD1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9H0I2

UniProtKB/Swiss-Prot:

ENKD1_HUMAN :
  • Contains 1 enkurin domain.
Domain:
  • Contains 1 enkurin domain.
genes like me logo Genes that share domains with ENKD1: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for ENKD1 Gene

Function 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

miRNA for ENKD1 Gene

miRTarBase miRNAs that target ENKD1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

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

Transcripts for ENKD1 Gene

Unigene Clusters for ENKD1 Gene

Enkurin domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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, PaxDb, 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 and mRNA Expression by UniProt/SwissProt 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 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ENKD1 34 35
  • 87.73 (n)
cow
(Bos Taurus)
Mammalia ENKD1 34 35
  • 87.54 (n)
rat
(Rattus norvegicus)
Mammalia Enkd1 34
  • 84.64 (n)
mouse
(Mus musculus)
Mammalia Enkd1 34 16 35
  • 83.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ENKD1 35
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ENKD1 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves C11H16ORF48 34
  • 65.41 (n)
ENKD1 35
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENKD1 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia enkd1 34
  • 55.23 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-220d9.3 34
  • 57.19 (n)
ENKD1 35
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11125 35
  • 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
rs1058636 -- 67,667,981(+) GTGAG(C/G)CCTCA upstream-variant-2KB, reference, missense
rs111825527 -- 67,663,448(+) TCCAG(C/T)CGCTG nc-transcript-variant, reference, synonymous-codon
rs112282767 -- 67,662,707(+) CACAG(C/T)GGGGG intron-variant, downstream-variant-500B, upstream-variant-2KB, utr-variant-3-prime
rs113743969 -- 67,664,772(+) GGGAA(C/T)GTTCT intron-variant
rs114429940 -- 67,665,026(+) TCCAC(C/T)TTGTC upstream-variant-2KB, reference, synonymous-codon

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. Towards 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 Res. 2001) 2 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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 H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3 64

Products for ENKD1 Gene

Sources for ENKD1 Gene

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