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Aliases for ENTHD1 Gene

Aliases for ENTHD1 Gene

  • ENTH Domain Containing 1 2 3 5
  • Epsin-2B 3 4
  • ENTH Domain-Containing Protein 1 3
  • DJ370M22.3 (EPSIN 2B) 3
  • DJ370M22.3 3
  • CACNA1I 3

External Ids for ENTHD1 Gene

Previous GeneCards Identifiers for ENTHD1 Gene

  • GC22M038468
  • GC22M040139
  • GC22M023102
  • GC22M039746
  • GC22M039747
  • GC22M039927
  • GC22M039948
  • GC22M040638
  • GC22M041083

Summaries for ENTHD1 Gene

GeneCards Summary for ENTHD1 Gene

ENTHD1 (ENTH Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is EPN3.

Additional gene information for ENTHD1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENTHD1 Gene

Genomics for ENTHD1 Gene

Regulatory Elements for ENTHD1 Gene

Enhancers for ENTHD1 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
GH22H039946 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -56.1 -56066 7 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF121 ZNF766 GATA2 ELK1 ATF7 GRAP2 ENTHD1 FAM83F TNRC6B ENSG00000225528
GH22H039958 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -66.8 -66782 4 HDGF ATF1 ARNT TCF12 ZNF766 FOS ATF7 RUNX3 NCOA1 JUNB FAM83F GRAP2 ENTHD1 CACNA1I MIEF1 TNRC6B ENSG00000225528 GC22P039976
GH22H039956 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -63.4 -63421 0 HDAC1 HDGF TBL1XR1 EBF1 BATF RELA POLR2A EED ZNF143 SMC3 GRAP2 ENTHD1 FAM83F TNRC6B MIEF1 ENSG00000225528
GH22H039930 1.4 Ensembl ENCODE dbSUPER 12.1 -44.2 -44169 15 PKNOX1 FOXA2 ZBTB40 RAD21 EGR1 ZNF143 RUNX3 ZNF680 CEBPB REST ENTHD1 GRAP2 FAM83F CACNA1I TNRC6B ENSG00000225528
GH22H039919 1.2 ENCODE dbSUPER 12.8 -26.7 -26677 2 HDAC1 PKNOX1 TBL1XR1 ARNT ZSCAN4 CHAMP1 TCF12 GATA2 ATF7 ETV6 GRAP2 ENTHD1 FAM83F TNRC6B ENSG00000225528
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ENTHD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ENTHD1 Gene

Chromosome:
22
Start:
39,743,044 bp from pter
End:
39,893,864 bp from pter
Size:
150,821 bases
Orientation:
Minus strand

Genomic View for ENTHD1 Gene

Genes around ENTHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENTHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENTHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENTHD1 Gene

Proteins for ENTHD1 Gene

  • Protein details for ENTHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYW4-ENTD1_HUMAN
    Recommended name:
    ENTH domain-containing protein 1
    Protein Accession:
    Q8IYW4
    Secondary Accessions:
    • B0QYD5
    • Q5H9F7
    • Q96LK3

    Protein attributes for ENTHD1 Gene

    Size:
    607 amino acids
    Molecular mass:
    67538 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB71688.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ENTHD1 Gene

Post-translational modifications for ENTHD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ENTHD1 Gene

Domains & Families for ENTHD1 Gene

Gene Families for ENTHD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ENTHD1 Gene

Suggested Antigen Peptide Sequences for ENTHD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ENTHD1: view

No data available for UniProtKB/Swiss-Prot for ENTHD1 Gene

Function for ENTHD1 Gene

Phenotypes From GWAS Catalog for ENTHD1 Gene

Phenotypes for ENTHD1 Gene

genes like me logo Genes that share phenotypes with ENTHD1: view

Animal Model Products

CRISPR Products

miRNA for ENTHD1 Gene

miRTarBase miRNAs that target ENTHD1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ENTHD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ENTHD1 Gene

Localization for ENTHD1 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 ENTHD1 gene
Compartment Confidence
cytosol 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for ENTHD1 Gene

Pathways & Interactions for ENTHD1 Gene

SuperPathways for ENTHD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ENTHD1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ENTHD1 Gene

Drugs & Compounds for ENTHD1 Gene

No Compound Related Data Available

Transcripts for ENTHD1 Gene

Unigene Clusters for ENTHD1 Gene

ENTH domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ENTHD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ENTHD1 Gene

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

Relevant External Links for ENTHD1 Gene

GeneLoc Exon Structure for
ENTHD1
ECgene alternative splicing isoforms for
ENTHD1

Expression for ENTHD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ENTHD1 Gene

mRNA differential expression in normal tissues according to GTEx for ENTHD1 Gene

This gene is overexpressed in Testis (x29.9), Nerve - Tibial (x9.6), and Brain - Nucleus accumbens (basal ganglia) (x5.7).

Protein differential expression in normal tissues from HIPED for ENTHD1 Gene

This gene is overexpressed in Heart (42.6) and Testis (26.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ENTHD1 Gene



Protein tissue co-expression partners for ENTHD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ENTHD1 Gene:

ENTHD1

SOURCE GeneReport for Unigene cluster for ENTHD1 Gene:

Hs.474869
genes like me logo Genes that share expression patterns with ENTHD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENTHD1 Gene

Orthologs for ENTHD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ENTHD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENTHD1 34 33
  • 99.29 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ENTHD1 34 33
  • 82.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ENTHD1 34 33
  • 80.91 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENTHD1 34
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Enthd1 33
  • 69.62 (n)
mouse
(Mus musculus)
Mammalia Enthd1 34 16 33
  • 69.06 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ENTHD1 34
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENTHD1 34
  • 68 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc:194578 34
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea rsd-3 34
  • 22 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENT3 34
  • 22 (a)
OneToMany
Species where no ortholog for ENTHD1 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ENTHD1 Gene

ENSEMBL:
Gene Tree for ENTHD1 (if available)
TreeFam:
Gene Tree for ENTHD1 (if available)

Paralogs for ENTHD1 Gene

Paralogs for ENTHD1 Gene

genes like me logo Genes that share paralogs with ENTHD1: view

Variants for ENTHD1 Gene

Sequence variations from dbSNP and Humsavar for ENTHD1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000028149 -- 39,758,149(+) ACTAG(A/G)TCTAG intron-variant
rs1000028201 -- 39,855,308(+) TTGCT(C/G)TGAGT intron-variant
rs1000041339 -- 39,750,637(+) TTAGT(G/T)TGGGA intron-variant
rs1000055651 -- 39,847,940(+) TTTCT(A/G)GTTTC intron-variant
rs1000068936 -- 39,859,763(+) ATTGC(A/C)AGAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ENTHD1 Gene

Variant ID Type Subtype PubMed ID
nsv1064952 CNV loss 25217958
nsv510808 CNV deletion 20534489

Variation tolerance for ENTHD1 Gene

Residual Variation Intolerance Score: 69.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.66; 65.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ENTHD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENTHD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENTHD1 Gene

Disorders for ENTHD1 Gene

Relevant External Links for ENTHD1

Human Genome Epidemiology (HuGE) Navigator
ENTHD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ENTHD1

No disorders were found for ENTHD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ENTHD1 Gene

Publications for ENTHD1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 60
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 60
  4. New genetic associations detected in a host response study to hepatitis B vaccine. (PMID: 20237496) Davila S … Seielstad M (Genes and immunity 2010) 3 60
  5. 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) 4 60

Products for ENTHD1 Gene

Sources for ENTHD1 Gene

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