EHD1 EH-domain containing 1 [Homo sapiens (human)]
| Gene Symbol | EHD1 |
| Entrez Gene ID | 10938 |
| Full Name | EH-domain containing 1 |
| Synonyms | FLJ42622, FLJ44618, H-PAST, HPAST1, PAST, PAST1 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
11 11q13 |
| Summary | 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. [provided by RefSeq]. |
| Disorder | MIM: 605888 |
| mRNA | NM_006795, 30240931 |
| Protein | NP_006786, 30240932 |
| Product | EH domain-containing protein 1 |
| RefSeq Status | REVIEWED |
| hsa04144 | Endocytosis |
WikiPathways
| WP481 | Insulin Signaling |
Reactome
| REACT_24970 | Factors involved in megakaryocyte development and platelet production |
| REACT_604 | Hemostasis |
| Homo sapiens (human) | EHD1 | NP_006786.2 |
| Pan troglodytes (chimpanzee) | EHD1 | XP_001167284.1 |
| Bos taurus (cattle) | EHD1 | NP_001015578.1 |
| Mus musculus (house mouse) | Ehd1 | NP_034249.1 |
| Rattus norvegicus (Norway rat) | Ehd1 | XP_001074569.1 |
| Danio rerio (zebrafish) | ehd1 | NP_001004578.1 |
| Danio rerio (zebrafish) | zgc:77049 | NP_998039.1 |
| Drosophila melanogaster (fruit fly) | Past1 | NP_524332.2 |
| Caenorhabditis elegans | rme-1 | NP_001024194.1 |
| Arabidopsis thaliana (thale cress) | ATEHD1 | NP_001030731.1 |
| ID | Name | Evidence |
| GO:0006886 | intracellular protein transport | IMP |
| GO:0007596 | blood coagulation | TAS |
| GO:0010886 | positive regulation of cholesterol storage | ISS |
| GO:0032456 | endocytic recycling | IGI |
| GO:0032456 | endocytic recycling | IMP |
| GO:0034383 | low-density lipoprotein particle clearance | ISS |
| GO:0042632 | cholesterol homeostasis | ISS |
| GO:0051260 | protein homooligomerization | IPI |
Component
| ID | Name | Evidence |
| GO:0005768 | endosome | IEA |
| GO:0005811 | lipid particle | ISS |
| GO:0005886 | plasma membrane | IEA |
| GO:0010008 | endosome membrane | EXP |
| GO:0031095 | platelet dense tubular network membrane | ISS |
| GO:0031901 | early endosome membrane | IDA |
| GO:0055038 | recycling endosome membrane | IDA |
Function
| ID | Name | Evidence |
| GO:0000166 | nucleotide binding | IEA |
| GO:0003924 | GTPase activity | IEA |
| GO:0005509 | calcium ion binding | IEA |
| GO:0005515 | protein binding | IPI |
| GO:0005524 | ATP binding | IEA |
| GO:0005525 | GTP binding | IEA |
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