EHD1
EH domain-containing protein 1
Also known as: EHD1_HUMAN, FLJ42622, FLJ44618, H-PAST, HPAST1, PAST1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H4M9
- Gene
- EHD1
- Ensembl
- ENSG00000110047
- Chromosome
- 11
- Canonical length
- 534 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins, Transporters
- Subcellular location
- Plasma membrane,Primary cilium,Primary cilium transition zone
- Quaternary structure
- Homooligomer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
534 residues, UniProt reviewed canonical sequence.
>Q9H4M9|EHD1
1 MFSWVSKDAR RKKEPELFQT VAEGLRQLYA QKLLPLEEHY RFHEFHSPAL EDADFDNKPM
61 VLLVGQYSTG KTTFIRHLIE QDFPGMRIGP EPTTDSFIAV MHGPTEGVVP GNALVVDPRR
121 PFRKLNAFGN AFLNRFMCAQ LPNPVLDSIS IIDTPGILSG EKQRISRGYD FAAVLEWFAE
181 RVDRIILLFD AHKLDISDEF SEVIKALKNH EDKIRVVLNK ADQIETQQLM RVYGALMWSL
241 GKIINTPEVV RVYIGSFWSH PLLIPDNRKL FEAEEQDLFK DIQSLPRNAA LRKLNDLIKR
301 ARLAKVHAYI ISSLKKEMPN VFGKESKKKE LVNNLGEIYQ KIEREHQISP GDFPSLRKMQ
361 ELLQTQDFSK FQALKPKLLD TVDDMLANDI ARLMVMVRQE ESLMPSQVVK GGAFDGTMNG
421 PFGHGYGEGA GEGIDDVEWV VGKDKPTYDE IFYTLSPVNG KITGANAKKE MVKSKLPNTV
481 LGKIWKLADV DKDGLLDDEE FALANHLIKV KLEGHELPAD LPPHLVPPSK RRHELocalizationUniProt · AlphaFold · HPA
Whether an antibody against EHD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 148 nTPM
Expression across tissuesHPA
Tissue
- testis: 148 nTPM
- bone marrow: 143 nTPM
- spleen: 71 nTPM
- lymph node: 61 nTPM
- cerebellum: 58 nTPM
- appendix: 56 nTPM
Single-cell type
- late spermatids: 3,099 nCPM
- early spermatids: 1,212 nCPM
- neutrophils: 1,043 nCPM
- monocytes: 338 nCPM
- platelets: 325 nCPM
- late primary spermatocytes: 289 nCPM
Immune cell
- eosinophil: 100 nTPM
- neutrophil: 57 nTPM
- MAIT T-cell: 39 nTPM
- gdT-cell: 39 nTPM
- non-classical monocyte: 34 nTPM
- memory CD8 T-cell: 34 nTPM
Brain region
- cerebellum: 69 nTPM
- cerebral cortex: 58 nTPM
- medulla oblongata: 57 nTPM
- white matter: 57 nTPM
- spinal cord: 54 nTPM
- thalamus: 53 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about EHD1.
Disease | ImmuneIEDB
Conditions an epitope on EHD1 was assayed in.
- type 1 diabetes mellitus T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.28
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 2.1
- DepMap mean gene effect
- -0.16
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to nerve growth factor stimulus
- cholesterol homeostasis
- cilium assembly
- endocytic recycling
- endocytosis
- intracellular protein transport
- low-density lipoprotein particle clearance
- neuron projection development
- positive regulation of cholesterol storage
- positive regulation of endocytic recycling
- positive regulation of myoblast fusion
- positive regulation of neuron projection development
- protein homooligomerization
- protein localization to cilium
- protein localization to plasma membrane
Molecular functions
- ATP binding
- cadherin binding
- calcium ion binding
- GTP binding
- identical protein binding
- protein-macromolecule adaptor activity
- small GTPase binding
Cellular components
- ciliary pocket membrane
- cilium
- cytoplasm
- early endosome
- early endosome membrane
- endocytic vesicle
- endosome membrane
- extracellular exosome
- glutamatergic synapse
- lipid droplet
- membrane
- perinuclear region of cytoplasm
- plasma membrane
- platelet dense tubular network membrane
- presynaptic active zone
- recycling endosome membrane
Protein domainsUniProt · Pfam · InterPro
- EH domain
- EF-hand domain
- EF-hand domain pair
- EF-Hand 1, calcium-binding site
- P-loop containing nucleoside triphosphate hydrolase
- Dynamin-type guanine nucleotide-binding (G) domain
- EH domain-containing protein, N-terminal
- Domain of unknown function DUF5600
- Dynamin, N-terminal
- Dynamin family
- EH domain
- N-terminal EH-domain containing protein
- Domain of unknown function (DUF5600)
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of EHD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads EHD1 as an antibody target. Whether an autoantibody or antibody against EHD1 could matter depends on whether native EHD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EHD1 is annotated at the cell surface, where native EHD1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label EHD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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