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Aliases for EHD1 Gene

Aliases for EHD1 Gene

  • EH Domain Containing 1 2 3 5
  • Testilin 2 3 4
  • PAST Homolog 1 3 4
  • HPAST1 3 4
  • PAST1 3 4
  • PAST 3 4
  • EH-Domain Containing 1 3
  • H-PAST 3

External Ids for EHD1 Gene

Previous HGNC Symbols for EHD1 Gene

  • PAST1

Previous GeneCards Identifiers for EHD1 Gene

  • GC11M067135
  • GC11M066301
  • GC11M064395
  • GC11M064376
  • GC11M064619
  • GC11M060947

Summaries for EHD1 Gene

Entrez Gene Summary for EHD1 Gene

  • This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]

GeneCards Summary for EHD1 Gene

EHD1 (EH Domain Containing 1) is a Protein Coding gene. Diseases associated with EHD1 include photoallergic dermatitis and cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome. Among its related pathways are Platelet activation, signaling and aggregation and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include calcium ion binding and GTPase activity. An important paralog of this gene is ITSN1.

UniProtKB/Swiss-Prot for EHD1 Gene

  • ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes (PubMed:15020713, PubMed:17233914, PubMed:20801876). Recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulates neurite outgrowth (By similarity). Plays a role in myoblast fusion (By similarity). Also plays a role in the formation of the ciliary vesicle, an early step in cilium biogenesis (PubMed:25686250).

Gene Wiki entry for EHD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EHD1 Gene

Genomics for EHD1 Gene

Regulatory Elements for EHD1 Gene

Promoters for EHD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EHD1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the EHD1 gene promoter:

Genomic Location for EHD1 Gene

Chromosome:
11
Start:
64,851,642 bp from pter
End:
64,888,296 bp from pter
Size:
36,655 bases
Orientation:
Minus strand

Genomic View for EHD1 Gene

Genes around EHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EHD1 Gene

Proteins for EHD1 Gene

  • Protein details for EHD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4M9-EHD1_HUMAN
    Recommended name:
    EH domain-containing protein 1
    Protein Accession:
    Q9H4M9
    Secondary Accessions:
    • O14611
    • Q2M3Q4
    • Q9UNR3

    Protein attributes for EHD1 Gene

    Size:
    534 amino acids
    Molecular mass:
    60627 Da
    Quaternary structure:
    • Homooligomer, and heterooligomer with EHD2, EHD3 and EHD4, ATP-binding is required for heterooligomerization (PubMed:16251358, PubMed:17233914, PubMed:18331452). Interacts (via EH domain) with MICALL1 (via NPF1 motif); the interaction is direct and recruits EHD1 to membranes (PubMed:19864458, PubMed:20106972). Interacts with RAB35; the interaction is indirect through MICALL1 and recruits EHD1 to membranes (By similarity). Interacts (via EH domain) with PACSIN2 (via NPF motifs); regulates localization to tubular recycling endosome membranes (PubMed:23596323). Interacts with PACSIN1 (By similarity). Interacts with RAB8A (PubMed:19864458). Interacts with FER1L5 (via second C2 domain) (By similarity). Interacts with MYOF (By similarity). Interacts with ZFYVE20 (PubMed:15020713). Interacts (via EH domain) with RAB11FIP2 (PubMed:16251358).

    Three dimensional structures from OCA and Proteopedia for EHD1 Gene

neXtProt entry for EHD1 Gene

Proteomics data for EHD1 Gene at MOPED

Post-translational modifications for EHD1 Gene

  • Ubiquitination at Lys 32
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EHD1 Gene

Domains & Families for EHD1 Gene

Gene Families for EHD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H4M9

UniProtKB/Swiss-Prot:

EHD1_HUMAN :
  • The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins.
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. EHD subfamily.
Domain:
  • The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins.
  • Contains 1 dynamin-type G (guanine nucleotide-binding) domain.
  • Contains 1 EF-hand domain.
  • Contains 1 EH domain.
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. EHD subfamily.
genes like me logo Genes that share domains with EHD1: view

Function for EHD1 Gene

Molecular function for EHD1 Gene

GENATLAS Biochemistry:
EPS15 homology (EH) domain family member 1 with three alternatively spliced isoforms,the smallest expressed in testis,the larger more widely,located in endocytic vesicles and potentially participating in clathrin-coated pit-mediated endocytosis of IGF1 receptor after binding to its ligand
UniProtKB/Swiss-Prot Function:
ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes (PubMed:15020713, PubMed:17233914, PubMed:20801876). Recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulates neurite outgrowth (By similarity). Plays a role in myoblast fusion (By similarity). Also plays a role in the formation of the ciliary vesicle, an early step in cilium biogenesis (PubMed:25686250).
genes like me logo Genes that share phenotypes with EHD1: view

Animal Models for EHD1 Gene

MGI Knock Outs for EHD1:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EHD1 Gene

Localization for EHD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EHD1 Gene

Recycling endosome membrane; Peripheral membrane protein; Cytoplasmic side. Early endosome membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, cilium membrane; Peripheral membrane protein; Cytoplasmic side. Note=Preferentially associates with tubular recycling endosomes (PubMed:15020713, PubMed:17233914, PubMed:19864458, PubMed:23596323). Colocalizes with FER1L5 at plasma membrane in myoblasts and myotubes (By similarity). Localizes to the ciliary pocket from where the cilium protrudes (PubMed:25686250). {ECO:0000250 UniProtKB:Q9WVK4, ECO:0000269 PubMed:15020713, ECO:0000269 PubMed:17233914, ECO:0000269 PubMed:19864458, ECO:0000269 PubMed:23596323, ECO:0000269 PubMed:25686250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EHD1 Gene COMPARTMENTS Subcellular localization image for EHD1 gene
Compartment Confidence
endosome 5
extracellular 5
plasma membrane 5
cytosol 3
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for EHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0016020 membrane IDA 19946888
GO:0030139 endocytic vesicle IEA --
genes like me logo Genes that share ontologies with EHD1: view

Pathways & Interactions for EHD1 Gene

genes like me logo Genes that share pathways with EHD1: view

Pathways by source for EHD1 Gene

1 BioSystems pathway for EHD1 Gene
1 KEGG pathway for EHD1 Gene
1 GeneGo (Thomson Reuters) pathway for EHD1 Gene

Gene Ontology (GO) - Biological Process for EHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA,IMP 20801876
GO:0007596 blood coagulation TAS --
GO:0010886 positive regulation of cholesterol storage IEA,ISS --
GO:0031175 neuron projection development IEA,ISS --
GO:0034383 low-density lipoprotein particle clearance IEA,ISS --
genes like me logo Genes that share ontologies with EHD1: view

No data available for SIGNOR curated interactions for EHD1 Gene

Drugs & Compounds for EHD1 Gene

No Compound Related Data Available

Transcripts for EHD1 Gene

Unigene Clusters for EHD1 Gene

EH-domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EHD1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c · 8d ^ 9 ^ 10a · 10b · 10c · 10d
SP1: - - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - - - -
SP5: - - -
SP6: - - -
SP7: -
SP8: -
SP9:
SP10: - - -

Relevant External Links for EHD1 Gene

GeneLoc Exon Structure for
EHD1
ECgene alternative splicing isoforms for
EHD1

Expression for EHD1 Gene

mRNA expression in normal human tissues for EHD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EHD1 Gene

This gene is overexpressed in Whole Blood (x8.0).

Protein differential expression in normal tissues from HIPED for EHD1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EHD1 Gene



SOURCE GeneReport for Unigene cluster for EHD1 Gene Hs.523774

mRNA Expression by UniProt/SwissProt for EHD1 Gene

Q9H4M9-EHD1_HUMAN
Tissue specificity: Highly expressed in testis.
genes like me logo Genes that share expression patterns with EHD1: view

Protein tissue co-expression partners for EHD1 Gene

Primer Products

In Situ Assay Products

Orthologs for EHD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EHD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EHD1 35
  • 93.26 (n)
  • 99.25 (a)
EHD1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EHD1 35
  • 92.05 (n)
  • 98.9 (a)
EHD1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ehd1 35
  • 91.01 (n)
  • 99.44 (a)
Ehd1 16
Ehd1 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EHD1 35
  • 99.27 (n)
  • 100 (a)
EHD1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ehd1 35
  • 89.45 (n)
  • 99.44 (a)
oppossum
(Monodelphis domestica)
Mammalia EHD1 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EHD1 36
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EHD1 36
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ehd1 35
  • 79.71 (n)
  • 91.57 (a)
Str.611 35
zebrafish
(Danio rerio)
Actinopterygii ehd1b 35
  • 76.13 (n)
  • 86.84 (a)
EHD1 (3 of 3) 36
  • 85 (a)
OneToMany
ehd1a 36
  • 85 (a)
OneToMany
ehd1b 36
  • 87 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Past1 37
  • 52 (a)
Past1 35
  • 71.46 (n)
  • 69.7 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004593 35
  • 64.27 (n)
  • 68.43 (a)
worm
(Caenorhabditis elegans)
Secernentea rme-1 37
  • 65 (a)
rme-1 35
  • 62.09 (n)
  • 68.42 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons EHD1 35
  • 53.99 (n)
  • 54.07 (a)
rice
(Oryza sativa)
Liliopsida Os04g0669300 35
  • 54.21 (n)
  • 52.78 (a)
Species with no ortholog for EHD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EHD1 Gene

ENSEMBL:
Gene Tree for EHD1 (if available)
TreeFam:
Gene Tree for EHD1 (if available)

Paralogs for EHD1 Gene

Paralogs for EHD1 Gene

(4) SIMAP similar genes for EHD1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with EHD1: view

Variants for EHD1 Gene

Sequence variations from dbSNP and Humsavar for EHD1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs8855 -- 64,854,101(-) TATAA(C/T)GTTAG utr-variant-3-prime
rs12053 -- 64,852,951(-) GCTTT(C/T)CCGCG utr-variant-3-prime
rs12573 -- 64,853,046(+) AACGC(A/G)CCCGG utr-variant-3-prime
rs589556 -- 64,879,370(+) CCACA(A/G)AGGCT intron-variant, upstream-variant-2KB
rs657885 -- 64,873,878(-) aacac(A/G)gtgaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EHD1 Gene

Variant ID Type Subtype PubMed ID
nsv528506 CNV Loss 19592680
dgv1171n71 CNV Loss 21882294
dgv1172n71 CNV Loss 21882294
nsv469962 CNV Loss 18288195
dgv1173n71 CNV Loss 21882294
esv2744628 CNV Deletion 23290073
dgv160e201 CNV Deletion 23290073
esv2224954 CNV Deletion 18987734
esv3653 CNV Deletion 18987735
esv2744629 CNV Deletion 23290073
esv989116 CNV Deletion 20482838
esv1447546 CNV Deletion 17803354
nsv39166 CNV Loss 16902084
esv992888 CNV Deletion 20482838
nsv360 CNV Loss 18451855
nsv526181 CNV Gain 19592680

Variation tolerance for EHD1 Gene

Residual Variation Intolerance Score: 11.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EHD1 Gene

HapMap Linkage Disequilibrium report
EHD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EHD1 Gene

Disorders for EHD1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for EHD1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search EHD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EHD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EHD1
genes like me logo Genes that share disorders with EHD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EHD1 Gene

Publications for EHD1 Gene

  1. EHD1 -- an EH-domain-containing protein with a specific expression pattern. (PMID: 10395801) Mintz L. … Horowitz M. (Genomics 1999) 2 3 4 23 67
  2. EHD2, EHD3, and EHD4 encode novel members of a highly conserved family of EH domain-containing proteins. (PMID: 10673336) Pohl U. … Louis D.N. (Genomics 2000) 2 3 23
  3. MICAL-L1 links EHD1 to tubular recycling endosomes and regulates receptor recycling. (PMID: 19864458) Sharma M. … Caplan S. (Mol. Biol. Cell 2009) 3 23
  4. EHDS are serine phosphoproteins: EHD1 phosphorylation is enhanced by serum stimulation. (PMID: 18661112) Fichtman B. … Horowitz M. (Cell. Mol. Biol. Lett. 2008) 3 23
  5. Role of EHD1 and EHBP1 in perinuclear sorting and insulin-regulated GLUT4 recycling in 3T3-L1 adipocytes. (PMID: 15247266) Guilherme A. … Czech M.P. (J. Biol. Chem. 2004) 3 23

Products for EHD1 Gene

Sources for EHD1 Gene

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