Human Gene EHD1 (ENST00000320631.8_7) from GENCODE V47lift37
  Description: EH domain containing 1, transcript variant 2 (from RefSeq NM_006795.4)
Gencode Transcript: ENST00000320631.8_7
Gencode Gene: ENSG00000110047.18_10
Transcript (Including UTRs)
   Position: hg19 chr11:64,619,114-64,646,093 Size: 26,980 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr11:64,621,805-64,645,936 Size: 24,132 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:64,619,114-64,646,093)mRNA (may differ from genome)Protein (534 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EHD1_HUMAN
DESCRIPTION: RecName: Full=EH domain-containing protein 1; AltName: Full=PAST homolog 1; Short=hPAST1; AltName: Full=Testilin;
FUNCTION: Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes.
SUBUNIT: Interacts with PACSIN1 and PACSIN2 (By similarity). Homooligomer, and heterooligomer with EHD2, EHD3 and EHD4. Interacts with ZFYVE20.
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Early endosome membrane; Peripheral membrane protein. Recycling endosome membrane; Peripheral membrane protein. Note=Associated with intracellular tubulovesicular structures.
TISSUE SPECIFICITY: Highly expressed in testis.
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.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EHD1
Diseases sorted by gene-association score: bardet-biedl syndrome 1 (3), photoallergic dermatitis (3), cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (3), cystoisosporiasis (2), cerebellar ataxia, mental retardation and dysequlibrium syndrome (2), venous hemangioma (2), anomalous left coronary artery from the pulmonary artery (2), bardet-biedl syndrome (2), multiple personality disorder (1), pulmonary hemosiderosis (1), follicular mucinosis (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 81.29 RPKM in Testis
Total median expression: 884.06 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -66.20157-0.422 Picture PostScript Text
3' UTR -1158.002691-0.430 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001401 - Dynamin_GTPase
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR000261 - EPS15_homology

Pfam Domains:
PF00350 - Dynamin family
PF01926 - 50S ribosome-binding GTPase
PF12763 - Cytoskeletal-regulatory complex EF hand
PF16880 - N-terminal EH-domain containing protein
PF18150 - Domain of unknown function (DUF5600)

SCOP Domains:
47473 - EF-hand
52540 - P-loop containing nucleoside triphosphate hydrolases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2JQ6 - NMR MuPIT 2KFF - NMR MuPIT 2KFG - NMR MuPIT 2KFH - NMR MuPIT 2KSP - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9H4M9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005525 GTP binding
GO:0017137 Rab GTPase binding
GO:0042802 identical protein binding
GO:0045296 cadherin binding
GO:0046872 metal ion binding

Biological Process:
GO:0006886 intracellular protein transport
GO:0006897 endocytosis
GO:0007596 blood coagulation
GO:0010886 positive regulation of cholesterol storage
GO:0015031 protein transport
GO:0030030 cell projection organization
GO:0031175 neuron projection development
GO:0032456 endocytic recycling
GO:0034383 low-density lipoprotein particle clearance
GO:0042632 cholesterol homeostasis
GO:0051260 protein homooligomerization
GO:0060271 cilium assembly
GO:0061512 protein localization to cilium
GO:1901741 positive regulation of myoblast fusion
GO:1990090 cellular response to nerve growth factor stimulus
GO:2001137 positive regulation of endocytic recycling

Cellular Component:
GO:0005768 endosome
GO:0005811 lipid particle
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0020018 ciliary pocket membrane
GO:0031095 platelet dense tubular network membrane
GO:0031901 early endosome membrane
GO:0042995 cell projection
GO:0055038 recycling endosome membrane
GO:0060170 ciliary membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LF211194 - JP 2014500723-A/18697: Polycomb-Associated Non-Coding RNAs.
AK124613 - Homo sapiens cDNA FLJ42622 fis, clone BRACE3015521, highly similar to EH-domain containing protein 1.
AK096747 - Homo sapiens cDNA FLJ39428 fis, clone PROST2001002, highly similar to Mus musculus EH domain-containing protein EHD1 mRNA.
AK126581 - Homo sapiens cDNA FLJ44618 fis, clone BRACE2013009, highly similar to EH-domain containing protein 1.
BC036898 - Homo sapiens EH-domain containing 1, mRNA (cDNA clone IMAGE:5497312), with apparent retained intron.
AY007161 - Homo sapiens clone CDABP0131 mRNA sequence.
AF099011 - Homo sapiens EH-domain containing protein testilin mRNA, complete cds.
AF001434 - Human Hpast (HPAST) mRNA, complete cds.
JD214711 - Sequence 195735 from Patent EP1572962.
JD346301 - Sequence 327325 from Patent EP1572962.
JD462126 - Sequence 443150 from Patent EP1572962.
JD485791 - Sequence 466815 from Patent EP1572962.
JD078300 - Sequence 59324 from Patent EP1572962.
JD467243 - Sequence 448267 from Patent EP1572962.
JD091848 - Sequence 72872 from Patent EP1572962.
JD426205 - Sequence 407229 from Patent EP1572962.
JD419510 - Sequence 400534 from Patent EP1572962.
JD254376 - Sequence 235400 from Patent EP1572962.
JD499958 - Sequence 480982 from Patent EP1572962.
JD375949 - Sequence 356973 from Patent EP1572962.
JD398562 - Sequence 379586 from Patent EP1572962.
JD411710 - Sequence 392734 from Patent EP1572962.
JD389621 - Sequence 370645 from Patent EP1572962.
JD098880 - Sequence 79904 from Patent EP1572962.
JD115177 - Sequence 96201 from Patent EP1572962.
JD203532 - Sequence 184556 from Patent EP1572962.
JD269206 - Sequence 250230 from Patent EP1572962.
JD383279 - Sequence 364303 from Patent EP1572962.
JD253726 - Sequence 234750 from Patent EP1572962.
JD359812 - Sequence 340836 from Patent EP1572962.
JD310683 - Sequence 291707 from Patent EP1572962.
JD239112 - Sequence 220136 from Patent EP1572962.
LF344528 - JP 2014500723-A/152031: Polycomb-Associated Non-Coding RNAs.
JD545288 - Sequence 526312 from Patent EP1572962.
JD556035 - Sequence 537059 from Patent EP1572962.
JD100787 - Sequence 81811 from Patent EP1572962.
JD231412 - Sequence 212436 from Patent EP1572962.
AK297654 - Homo sapiens cDNA FLJ53363 complete cds, highly similar to EH-domain-containing protein 1.
JD477807 - Sequence 458831 from Patent EP1572962.
AK300326 - Homo sapiens cDNA FLJ55347 complete cds, highly similar to EH-domain-containing protein 1.
JD407182 - Sequence 388206 from Patent EP1572962.
AK299096 - Homo sapiens cDNA FLJ53643 complete cds, highly similar to EH-domain-containing protein 1.
LF344527 - JP 2014500723-A/152030: Polycomb-Associated Non-Coding RNAs.
JD432825 - Sequence 413849 from Patent EP1572962.
AK098723 - Homo sapiens cDNA FLJ25857 fis, clone TST09552, highly similar to Human Hpast (HPAST) mRNA.
JD542198 - Sequence 523222 from Patent EP1572962.
JD217157 - Sequence 198181 from Patent EP1572962.
JD262867 - Sequence 243891 from Patent EP1572962.
BC104799 - Homo sapiens EH-domain containing 1, mRNA (cDNA clone MGC:132459 IMAGE:8143802), complete cds.
BC104825 - Homo sapiens EH-domain containing 1, mRNA (cDNA clone MGC:132485 IMAGE:8143828), complete cds.
AK302930 - Homo sapiens cDNA FLJ55166 complete cds, highly similar to EH-domain-containing protein 1.
AK097842 - Homo sapiens cDNA FLJ40523 fis, clone TESTI2046872, highly similar to EH-domain-containing protein 1.
AK312316 - Homo sapiens cDNA, FLJ92624, highly similar to Homo sapiens EH-domain containing 1 (EHD1), mRNA.
KJ898314 - Synthetic construct Homo sapiens clone ccsbBroadEn_07708 EHD1 gene, encodes complete protein.
AB384808 - Synthetic construct DNA, clone: pF1KB3471, Homo sapiens EHD1 gene for EH domain-containing protein 1, complete cds, without stop codon, in Flexi system.
LF344526 - JP 2014500723-A/152029: Polycomb-Associated Non-Coding RNAs.
LF344525 - JP 2014500723-A/152028: Polycomb-Associated Non-Coding RNAs.
LF344524 - JP 2014500723-A/152027: Polycomb-Associated Non-Coding RNAs.
LF344522 - JP 2014500723-A/152025: Polycomb-Associated Non-Coding RNAs.
LF344521 - JP 2014500723-A/152024: Polycomb-Associated Non-Coding RNAs.
LF344516 - JP 2014500723-A/152019: Polycomb-Associated Non-Coding RNAs.
MA580105 - JP 2018138019-A/152031: Polycomb-Associated Non-Coding RNAs.
MA580104 - JP 2018138019-A/152030: Polycomb-Associated Non-Coding RNAs.
MA580103 - JP 2018138019-A/152029: Polycomb-Associated Non-Coding RNAs.
MA580102 - JP 2018138019-A/152028: Polycomb-Associated Non-Coding RNAs.
MA580101 - JP 2018138019-A/152027: Polycomb-Associated Non-Coding RNAs.
MA580099 - JP 2018138019-A/152025: Polycomb-Associated Non-Coding RNAs.
MA580098 - JP 2018138019-A/152024: Polycomb-Associated Non-Coding RNAs.
MA580093 - JP 2018138019-A/152019: Polycomb-Associated Non-Coding RNAs.
MA446771 - JP 2018138019-A/18697: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H4M9 (Reactome details) participates in the following event(s):

R-HSA-1011576 EHD proteins interact with Rabenosyn-5
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: CDABP0131, EHD1 , EHD1_HUMAN, ENST00000320631.1, ENST00000320631.2, ENST00000320631.3, ENST00000320631.4, ENST00000320631.5, ENST00000320631.6, ENST00000320631.7, NM_006795, O14611, PAST , PAST1 , Q2M3Q4, Q9H4M9, Q9UNR3, uc317qxi.1, uc317qxi.2
UCSC ID: ENST00000320631.8_7
RefSeq Accession: NM_006795.4
Protein: Q9H4M9 (aka EHD1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.