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Aliases for EHD1 Gene

Aliases for EHD1 Gene

  • EH-Domain Containing 1 2 3
  • Testilin 2 3 4
  • PAST Homolog 1 3 4
  • HPAST1 3 4
  • PAST1 3 4
  • PAST 3 4
  • EH Domain-Containing Protein 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 subvalvular aortic stenosis and bardet-biedl syndrome 1. Among its related pathways are Endocytosis and Hemostasis. 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

  • Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Plays a role in myoblast fusion. Recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulates neurite outgrowth.

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

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EHD1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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. Interacts (via EH domain) with MICALL1 (via NPF1 motif); the interaction is direct and recruits EHD1 to membranes. Interacts with RAB35; the interaction is indirect through MICALL1 and recruits EHD1 to membranes. Interacts (via EH domain) with PACSIN2 (via NPF motifs); regulates localization to tubular recycling endosome membranes. Interacts with PACSIN1. Interacts with RAB8A. Interacts with FER1L5 (via second C2 domain). Interacts with MYOF. Interacts with ZFYVE20. Interacts (via EH domain) with RAB11FIP2.

    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 Lys32 and Lys124
  • Modification sites at PhosphoSitePlus

Other Protein References for EHD1 Gene

No data available for DME Specific Peptides for EHD1 Gene

Domains for EHD1 Gene

Gene Families for EHD1 Gene

HGNC:
  • EFHAND :EF-hand domain containing

Graphical View of Domain Structure for InterPro Entry

Q9H4M9

UniProtKB/Swiss-Prot:

EHD1_HUMAN :
  • Q9H4M9
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: Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Plays a role in myoblast fusion. Recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulates neurite outgrowth.

Gene Ontology (GO) - Molecular Function for EHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 15020713
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with EHD1: view
genes like me logo Genes that share phenotypes with EHD1: view

Animal Models for EHD1 Gene

MGI Knock Outs for EHD1:

Animal Model Products

CRISPR Products

miRNA for EHD1 Gene

miRTarBase miRNAs that target EHD1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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. Early endosome membrane; Peripheral membrane protein. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Preferentially associates with tubular recycling endosomes. Colocalizes with FER1L5 at plasma membrane in myoblasts and myotubes.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for EHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome --
GO:0005769 early endosome --
GO:0005811 lipid particle ISS --
GO:0005886 plasma membrane ISS --
GO:0010008 endosome membrane TAS --
genes like me logo Genes that share ontologies with EHD1: view

Pathways 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:0006184 obsolete GTP catabolic process --
GO:0006886 intracellular protein transport IMP 15020713
GO:0006897 endocytosis IMP 20801876
GO:0007596 blood coagulation TAS --
GO:0010886 positive regulation of cholesterol storage ISS --
genes like me logo Genes that share ontologies with EHD1: view

Transcripts for EHD1 Gene

Unigene Clusters for EHD1 Gene

EH-domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EHD1

Primer 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 (8.0).

Integrated Proteomics: protein expression 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 expressions with EHD1: view

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
chimpanzee
(Pan troglodytes)
Mammalia EHD1 35
  • 99.27 (n)
  • 100 (a)
EHD1 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia EHD1 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EHD1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ehd1 35
  • 89.45 (n)
  • 99.44 (a)
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 EHD1 (3 of 3) 36
  • 85 (a)
OneToMany
ehd1a 36
  • 85 (a)
OneToMany
ehd1b 35
  • 76.13 (n)
  • 86.84 (a)
ehd1b 36
  • 87 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004593 35
  • 64.27 (n)
  • 68.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta Past1 35
  • 71.46 (n)
  • 69.7 (a)
Past1 37
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea rme-1 35
  • 62.09 (n)
  • 68.42 (a)
rme-1 37
  • 65 (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

Selected 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 MAF
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
rs598941 -- 64,876,082(-) TGCGT(C/T)CTTGG 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

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

MalaCards: The human disease database. (2) Diseases for EHD1 Gene including...

Search for EHD1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for EHD1 Gene

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

No data available for UniProtKB/Swiss-Prot 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
  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 4 23
  4. 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
  5. EHDS are serine phosphoproteins: EHD1 phosphorylation is enhanced by serum stimulation. (PMID: 18661112) Fichtman B. … Horowitz M. (Cell. Mol. Biol. Lett. 2008) 3 23

Products for EHD1 Gene

Sources for EHD1 Gene

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