Aliases for ENKD1 Gene

Aliases for ENKD1 Gene

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

External Ids for ENKD1 Gene

Previous HGNC Symbols for ENKD1 Gene

  • C16orf48

Previous GeneCards Identifiers for ENKD1 Gene

  • GC16M067697

Summaries for ENKD1 Gene

GeneCards Summary for ENKD1 Gene

ENKD1 (Enkurin Domain Containing 1) is a Protein Coding gene. Diseases associated with ENKD1 include Cone-Rod Dystrophy 18. An important paralog of this gene is ENKUR.

Gene Wiki entry for ENKD1 Gene

Additional gene information for ENKD1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ENKD1 Gene

Genomics for ENKD1 Gene

GeneHancer (GH) Regulatory Elements for ENKD1 Gene

Promoters and enhancers for ENKD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENKD1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ENKD1

Genomic Locations for ENKD1 Gene

Genomic Locations for ENKD1 Gene
chr16:67,662,945-67,667,265
(GRCh38/hg38)
Size:
4,321 bases
Orientation:
Minus strand
chr16:67,696,848-67,701,168
(GRCh37/hg19)
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

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

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure 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
genes like me logo Genes that share phenotypes with ENKD1: view

Animal Model Products

miRNA for ENKD1 Gene

miRTarBase miRNAs that target ENKD1

Clone 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

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

PathCards logo

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

mRNA/cDNA for ENKD1 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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

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, MaxQB, and MOPED for ENKD1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ENKD1

SOURCE GeneReport for Unigene cluster for ENKD1 Gene:

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

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 31
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ENKD1 31 30
  • 87.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ENKD1 31 30
  • 87.54 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Enkd1 30
  • 84.64 (n)
mouse
(Mus musculus)
Mammalia Enkd1 17 31 30
  • 83.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ENKD1 31
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ENKD1 31
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves C11H16ORF48 30
  • 65.41 (n)
ENKD1 31
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENKD1 31
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia enkd1 30
  • 55.23 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-220d9.3 30
  • 57.19 (n)
ENKD1 31
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11125 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ENKD1: view image

Paralogs for ENKD1 Gene

Paralogs for ENKD1 Gene

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

Variants for ENKD1 Gene

Additional dbSNP identifiers (rs#s) for ENKD1 Gene

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)

Additional Variant Information for ENKD1 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ENKD1 Gene

Disorders for ENKD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ENKD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cone-rod dystrophy 18
  • cord18
- elite association - COSMIC cancer census association via MalaCards
Search ENKD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ENKD1

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

No data available for 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 54
  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 54
  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 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. Substrate-Trapped Interactors of PHD3 and FIH Cluster in Distinct Signaling Pathways. (PMID: 26972000) Rodriguez J … von Kriegsheim A (Cell reports 2016) 3 54

Products for ENKD1 Gene

Sources for ENKD1 Gene