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EHD1 Gene

protein-coding   GIFtS: 62
GCID: GC11M064619

EH-Domain Containing 1


(Previous symbol: PAST1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
EH-Domain Containing 11 2     H-PAST2
PAST11 2 3     HPAST12
testilin1 2     EH Domain-Containing Protein 12
PAST2 3     Testilin3
PAST Homolog 12 3     hPAST13

External Ids:    HGNC: 32421   Entrez Gene: 109382   Ensembl: ENSG000001100477   OMIM: 6058885   UniProtKB: Q9H4M93   

Export aliases for EHD1 gene to outside databases

Previous GC identifers: GC11M067135 GC11M066301 GC11M064870 GC11M064395 GC11M064376 GC11M060947


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 venous hemangioma, and progressive bulbar palsy. GO annotations related to this gene include GTPase activity and calcium ion binding. An important paralog of this gene is REPS1.

UniProtKB/Swiss-Prot: EHD1_HUMAN, Q9H4M9
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 Wiki entry for EHD1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EHD1 gene promoter:
         TBP   SRY   p53   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEHD1 promoter sequence
   Search Chromatin IP Primers for EHD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EHD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13

EHD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EHD1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M064619:  view genomic region     (about GC identifiers)

Start:
64,619,114 bp from pter      End:
64,655,768 bp from pter
Size:
36,655 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: EHD1_HUMAN, Q9H4M9 (See protein sequence)
Recommended Name: EH domain-containing protein 1  
Size: 534 amino acids; 60627 Da
Subunit: Homooligomer, and heterooligomer with EHD2, EHD3 and EHD4. 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
5 PDB 3D structures from and Proteopedia for EHD1:
2JQ6 (3D)        2KFF (3D)        2KFG (3D)        2KFH (3D)        2KSP (3D)    
Secondary accessions: O14611 Q2M3Q4 Q9UNR3

Explore the universe of human proteins at neXtProt for EHD1: NX_Q9H4M9

Explore proteomics data for EHD1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys32, Lys124
  • Modification sites at PhosphoSitePlus

  • See EHD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001269373.1  NP_001269374.1  NP_006786.2  

    ENSEMBL proteins: 
     ENSP00000320516   ENSP00000352354   ENSP00000391429   ENSP00000404944   ENSP00000396273  
     ENSP00000399022   ENSP00000403830  
    Reactome Protein details: Q9H4M9

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    Selected InterPro protein domains (see all 6):
     IPR018247 EF_Hand_1_Ca_BS
     IPR001401 Dynamin_GTPase
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q9H4M9

    ProtoNet protein and cluster: Q9H4M9

    1 Blocks protein domain: IPB000261 EPS15 homology (EH)

    UniProtKB/Swiss-Prot: EHD1_HUMAN, Q9H4M9
    Domain: The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins (By similarity)
    Similarity: Contains 1 EF-hand domain
    Similarity: Contains 1 EH domain


    EHD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EHD1_HUMAN, Q9H4M9
    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

         Genatlas biochemistry entry for EHD1:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI15020713
    GO:0005524ATP binding IEA--
    GO:0005525GTP binding IEA--
         
    EHD1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for EHD1:
     Increased gamma-H2AX phosphory 

         13 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Ehd1):
     behavior/neurological  cellular  craniofacial  endocrine/exocrine gland  growth/size/body 
     hematopoietic system  homeostasis/metabolism  mortality/aging  no phenotypic analysis  normal 
     reproductive system  skeleton  vision/eye 

    EHD1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for EHD1: Ehd1tm1Mhor Ehd1tm1.2Haba

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EHD1
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    Block miRNA regulation of human, mouse, rat EHD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EHD1 (see all 16):
    hsa-miR-4264 hsa-miR-492 hsa-miR-622 hsa-miR-578 hsa-miR-876-3p hsa-miR-7 hsa-miR-1297 hsa-miR-21
    SwitchGear 3'UTR luciferase reporter plasmidEHD1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EHD1_HUMAN, Q9H4M9: 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: 

    CompartmentConfidence
    endosome5
    plasma membrane5
    cytosol3
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005768endosome ----
    GO:0005769early endosome ----
    GO:0005811lipid particle ISS--
    GO:0005886plasma membrane ISS--
    GO:0010008endosome membrane TAS--

    EHD1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EHD1 About    
    See pathways by source

    SuperPathContained pathways About
    1Hemostasis
    Hemostasis0.43
    2Regulation of CFTR activity norm and CF
    wtCFTR and deltaF508 traffic Membrane expression norm and CF 0.38
    3Insulin Signaling
    Insulin Signaling
    4Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production
    5Endocytosis
    Endocytosis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for EHD1
        wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)

    1 BioSystems Pathway for EHD1
        Insulin Signaling


    1 Reactome Pathway for EHD1
        Factors involved in megakaryocyte development and platelet production


    1 Kegg Pathway  (Kegg details for EHD1):
        Endocytosis


    EHD1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EHD1
    Interactions:

        GeneGlobe Interaction Network for EHD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EHD1 (Q9H4M92, 3 ENSP000003205164) via UniProtKB, MINT, STRING, and/or I2D (see all 812)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STON2Q8WXE92, 3, ENSP000002675404MINT-6180161 I2D: score=1 STRING: ENSP00000267540
    CDC5LQ994592, ENSP000003605324MINT-7945693 MINT-7947479 STRING: ENSP00000360532
    CCT7Q998322, ENSP000002580914MINT-7945693 MINT-7947479 STRING: ENSP00000258091
    PSMC1P621912, ENSP000002613034MINT-7945693 MINT-7947479 STRING: ENSP00000261303
    RPLP0P053882, ENSP000003390274MINT-7945693 MINT-7947479 STRING: ENSP00000339027
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport IMP15020713
    GO:0006897endocytosis IMP--
    GO:0007596blood coagulation TAS--
    GO:0010886positive regulation of cholesterol storage ISS--
    GO:0016197endosomal transport ----

    EHD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EHD1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for EHD1 gene (3 alternative transcripts): 
    NM_001282444.1  NM_001282445.1  NM_006795.3  

    Unigene Cluster for EHD1:

    EH-domain containing 1
    Hs.523774  [show with all ESTs]
    Unigene Representative Sequence: AK124613
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000320631(uc001obu.1) ENST00000484846(uc021qkz.1) ENST00000359393(uc001obv.1 uc010rnq.1)
    ENST00000488711 ENST00000421510 ENST00000498472 ENST00000433803 ENST00000466015
    ENST00000455148 ENST00000457202 ENST00000411683 ENST00000489379
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    Selected qRT-PCR Assays for microRNAs that regulate EHD1 (see all 16):
    hsa-miR-4264 hsa-miR-492 hsa-miR-622 hsa-miR-578 hsa-miR-876-3p hsa-miR-7 hsa-miR-1297 hsa-miR-21
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    Additional mRNA sequence: 

    AF001434.1 AF086188.1 AK097842.1 AK098723.1 AK124613.1 AK126581.1 AK297654.1 AK299096.1 
    AK300326.1 AK302930.1 AK312316.1 AY007161.1 BC104799.1 BC104825.1 

    Selected DOTS entries (see all 31):

    DT.453762  DT.100824682  DT.100824683  DT.95225261  DT.99941276  DT.97779257  DT.120713625  DT.95225346 
    DT.431015  DT.100824662  DT.100824680  DT.120713544  DT.100824673  DT.120713558  DT.92467247  DT.100824688 
    DT.100695278  DT.100824685  DT.120713591  DT.40107145  DT.100709819  DT.100726534  DT.100824661  DT.100824689 

    Selected AceView cDNA sequences (see all 512):

    AI285029 BE140883 BU543280 BI756343 AA935911 BU169442 AW337590 AI185496 
    AK124613 NM_006795 CR590332 BF725545 BM824322 AI684918 BM707886 AA311215 
    AA749067 AI015270 CR598504 BQ947090 BQ936959 BU739949 AA045264 CR601381 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for EHD1 (see all 10)    About this scheme

    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:                                                                                -     -                       -                           


    ECgene alternative splicing isoforms for EHD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EHD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCAGACAGC
    EHD1 Expression
    About this image


    EHD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Lung (Respiratory System)
     
     Testis (Reproductive System)
     
     Spleen (Hematopoietic System)
    EHD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EHD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.523774

    UniProtKB/Swiss-Prot: EHD1_HUMAN, Q9H4M9
    Tissue specificity: Highly expressed in testis

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EHD1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for EHD1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ehd11 , 5 EH-domain containing 11, 5 91.01(n)1
    99.44(a)1
      19 (4.40 cM)5
    136601  NM_010119.51  NP_034249.11 
     62767255 
    lizard
    (Anolis carolinensis)
    Reptilia EHD16
    EH-domain containing 1
    96(a)
    1 ↔ 1
    AAWZ02039332(2263-8686)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.6112 Transcribed sequence with moderate similarity to protein more 81.69(n)    142011793 
    zebrafish
    (Danio rerio)
    Actinopterygii ehd1b1 EH-domain containing 1b 76.13(n)
    86.84(a)
      447839  NM_001004578.1  NP_001004578.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Past11 , 3 endocytosis calcium ion binding3
    Putative Achaete Scute Target 11
    52(a)3
    71.46(n)1
    69.7(a)1
      87C63
    415691  NM_079608.31  NP_524332.21 
    worm
    (Caenorhabditis elegans)
    Secernentea rme-11 , 3 Expression: gonad, intestine, all
    stages3
    rme-11
    65(a)3
    62.09(n)1
    68.42(a)1
      V(6211479-6219853)3
    1790101  NM_001029024.21  NP_001024195.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons EHD11 EHD1 53.99(n)
    54.07(a)
      821573  NM_001035654.1  NP_001030731.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g06693001 Os04g0669300 54.21(n)
    52.78(a)
      4337342  NM_001060737.1  NP_001054202.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EHD1 gene
    REPS12  EPS15L12  EHD32  REPS22  EHD22  EHD42  ITSN12  EPS152  
    ITSN22  SRL2  
    4 SIMAP similar genes for EHD1 using alignment to 7 protein entries:     EHD1_HUMAN (see all proteins):
    EHD3    EHD4    EHD2    SRL

    EHD1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EHD1 (see all 693)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1510391861,2
    --64619767(+) GCTTCA/CCTGTA 1 -- ds50010--------
    rs1845357881,2
    --64619780(+) TAAACC/TGTCCT 1 -- ds50010--------
    rs118234131,2
    C,F,H--64619815(+) GCTCCA/GAAGCC 1 -- ds50016Minor allele frequency- G:0.03NS EA NA WA 538
    rs114031891,2
    C--64619860(+) GAGGGC/-CCTGC 1 -- ds50012Minor allele frequency- -:0.00NA CSA 4
    rs2017609351,2
    C--64619860(+) CGAGGC/GCNNNN 1 -- ds50010--------
    rs614669551,2
    C--64619940(+) CCCCCC/-TCCCC 1 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs1893678691,2
    --64619977(+) TCCCAC/TCTTGC 1 -- ds50010--------
    rs1409588241,2
    --64620078(+) ACTGGA/GCAGGG 1 -- ds50010--------
    rs1122170341,2
    C--64620158(+) GGATGA/GCCCAG 1 -- ds50010--------
    rs1124371101,2
    C--64620207(+) CTTTCC/G/TCACAG 1 -- ds50011CSA 1

    HapMap Linkage Disequilibrium report for EHD1 (64619114 - 64655768 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for EHD1 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2744629CNV Deletion23290073
    esv989116CNV Deletion20482838
    esv2744628CNV Deletion23290073
    esv992888CNV Deletion20482838
    dgv160e201CNV Deletion23290073
    esv1447546CNV Deletion17803354
    esv2224954CNV Deletion18987734
    esv3653CNV Deletion18987735
    dgv1173n71CNV Loss21882294
    nsv528506CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EHD1
    DNA2.0 Custom Variant and Variant Library Synthesis for EHD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605888    OMIM disorders: --

    15 diseases for EHD1:    
    About MalaCards
    venous hemangioma    progressive bulbar palsy    subvalvular aortic stenosis    ureterocele
    progressive muscular atrophy    hemosiderosis    vesiculitis    bardet-biedl syndrome
    hemangioma    multiple endocrine neoplasia    muscular atrophy    male infertility
    infertility    malaria    neuronitis

    1 disease from the University of Copenhagen DISEASES database for EHD1:
    Subvalvular aortic stenosis

    EHD1 for disorders           About GeneDecksing


    Export disorders for EHD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EHD1 gene, integrated from 10 sources (see all 60):
    (articles sorted by number of sources associating them with EHD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. EHD1 -- an EH-domain-containing protein with a specific expression pattern. (PubMed id 10395801)1, 2, 3, 9 Mintz L.... Horowitz M. (Genomics 1999)
    2. MICAL-L1 links EHD1 to tubular recycling endosomes and regulates receptor recycling. (PubMed id 19864458)1, 2, 9 Sharma M....Caplan S. (Mol. Biol. Cell 2009)
    3. EHD2, EHD3, and EHD4 encode novel members of a highly conserved family of EH domain-containing proteins. (PubMed id 10673336)1, 3, 9 Pohl U.... Louis D.N. (Genomics 2000)
    4. Mechanism for the selective interaction of C-terminal Eps15 homology domain proteins with specific Asn-Pro-Phe-containing partners. (PubMed id 20106972)1, 2 Kieken F....Sorgen P.L. (J. Biol. Chem. 2010)
    5. EH domain of EHD1. (PubMed id 17899392)1, 2 Kieken F.... Sorgen P.L. (J. Biomol. NMR 2007)
    6. Shared as well as distinct roles of EHD proteins revealed by biochemical and functional comparisons in mammalian cells and C. elegans. (PubMed id 17233914)1, 2 George M.... Band H. (BMC Cell Biol. 2007)
    7. Rabenosyn-5 and EHD1 interact and sequentially regulate protein recycling to the plasma membrane. (PubMed id 15020713)1, 2 Naslavsky N.... Caplan S. (Mol. Biol. Cell 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    10. A transcript map for the 2.8-Mb region containing the multiple endocrine neoplasia type 1 locus. (PubMed id 9253601)1, 2 Guru S.C.... Chandrasekharappa S.C. (Genome Res. 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10938 HGNC: 3242 AceView: EHD1 Ensembl:ENSG00000110047 euGenes: HUgn10938
    ECgene: EHD1 Kegg: 10938 H-InvDB: EHD1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for EHD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EHD1 gene:
    Search GeneIP for patents involving EHD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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