Aliases for ENTHD1 Gene

Aliases for ENTHD1 Gene

  • ENTH Domain Containing 1 2 3 5
  • ENTH Domain-Containing Protein 1 3 4
  • Epsin-2B 3 4
  • 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
  • GC22M042780
  • GC22M042892
  • GC22M042950
  • GC22M039927
  • GC22M039948
  • GC22M040638
  • GC22M041083
  • GC22M041481
  • GC22M041891
  • GC22M042319
  • GC22M042670

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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ENTHD1 Gene

Genomics for ENTHD1 Gene

GeneHancer (GH) Regulatory Elements for ENTHD1 Gene

Promoters and enhancers for ENTHD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J039893 Promoter 0.3 EPDnew 500.7 +0.1 84 0.1 ENTHD1 GRAP2 lnc-ENTHD1-2 lnc-GRAP2-2
GH22J039891 Enhancer 0.2 Ensembl 500.7 +1.5 1463 1.6 ENTHD1 GRAP2 lnc-ENTHD1-2 ENSG00000225528 lnc-GRAP2-2
GH22J039946 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 -56.1 -56065 7.7 GTF2E2 ZBTB5 AFF1 CTCF HES1 TSC22D4 TOE1 MYC CTBP1 JUN GRAP2 ENTHD1 FAM83F TNRC6B ENSG00000225528 NONHSAG033977.2 lnc-ENTHD1-3 lnc-ENTHD1-2
GH22J039958 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -66.8 -66782 4.5 CTCF SP1 JUND FOS EP300 ZBTB11 REST HES1 MYC TRIM22 ENSG00000225528 NONHSAG033977.2 FAM83F GRAP2 ENTHD1 CACNA1I MIEF1 TNRC6B lnc-ENTHD1-3
GH22J039956 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -63.4 -63422 0.6 SP1 EP300 RELA RCOR1 TRIM22 BCL11A TCF12 CBFB SMC3 ARNT GRAP2 ENTHD1 FAM83F TNRC6B MIEF1 ENSG00000225528 NONHSAG033977.2 lnc-ENTHD1-3 lnc-ENTHD1-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENTHD1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ENTHD1

Top Transcription factor binding sites by QIAGEN in the ENTHD1 gene promoter:
  • AML1a
  • Brachyury
  • CUTL1
  • IRF-2
  • NF-AT2
  • NF-AT4
  • SRY
  • STAT5A
  • TBP

Genomic Locations for ENTHD1 Gene

Genomic Locations for ENTHD1 Gene
chr22:39,743,044-39,893,864
(GRCh38/hg38)
Size:
150,821 bases
Orientation:
Minus strand
chr22:40,139,049-40,289,868
(GRCh37/hg19)
Size:
150,820 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

Blocks:
  • Epsin N-terminal homology
  • Epsin-like, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ENTHD1 Gene

GenScript: Design optimal peptide antigens:
  • Epsin-2B (ENTD1_HUMAN)
genes like me logo Genes that share domains with ENTHD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ENTHD1 Gene

Function for ENTHD1 Gene

Phenotypes From GWAS Catalog for ENTHD1 Gene

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

Animal Model Products

miRNA for ENTHD1 Gene

miRTarBase miRNAs that target ENTHD1

Clone Products

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

PathCards logo

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

mRNA/cDNA for ENTHD1 Gene

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

Clone Products

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

Expression for ENTHD1 Gene

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



Protein tissue co-expression partners for ENTHD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ENTHD1

SOURCE GeneReport for Unigene cluster for ENTHD1 Gene:

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

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 31 30
  • 99.29 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ENTHD1 31 30
  • 82.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ENTHD1 31 30
  • 80.91 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENTHD1 31
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Enthd1 30
  • 69.62 (n)
mouse
(Mus musculus)
Mammalia Enthd1 17 31 30
  • 69.06 (n)
oppossum
(Monodelphis domestica)
Mammalia ENTHD1 31
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENTHD1 31
  • 68 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc:194578 31
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea rsd-3 31
  • 22 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENT3 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ENTHD1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ENTHD1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs17319801 - p.Ile109Thr

Additional dbSNP identifiers (rs#s) for ENTHD1 Gene

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)

Additional Variant Information 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

Additional Disease Information for 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 54
  2. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 54
  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 54
  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 54
  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 54

Products for ENTHD1 Gene

Sources for ENTHD1 Gene