Misplaced Pages

EHD1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2JQ6, 2KFF, 2KFG, 2KFH, 2KSP
Identifiers
Aliases	EHD1, H-PAST, HPAST1, PAST, PAST1, EH domain containing 1
External IDs	OMIM: 605888; MGI: 1341878; HomoloGene: 81678; GeneCards: EHD1; OMA:EHD1 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) Band 11q13.1 Start 64,851,642 bp End 64,888,296 bp
Gene location (Mouse) Chr. Chromosome 19 (mouse) Band 19 A|19 4.4 cM Start 6,326,755 bp End 6,350,126 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis granulocyte blood spleen appendix apex of heart right coronary artery lymph node right hemisphere of cerebellum Top expressed in granulocyte testicle white adipose tissue yolk sac placenta spermatid jejunum human kidney circulatory system heart More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding calcium ion binding GTP binding metal ion binding protein binding ATP binding cadherin binding identical protein binding Cellular component endosome cell projection early endosome membrane membrane lipid droplet plasma membrane cilium recycling endosome membrane platelet dense tubular network membrane ciliary membrane ciliary pocket membrane endosome membrane extracellular exosome Biological process cellular response to nerve growth factor stimulus endocytosis low-density lipoprotein particle clearance positive regulation of cholesterol storage blood coagulation positive regulation of myoblast fusion cell projection organization protein localization to cilium positive regulation of endocytic recycling cholesterol homeostasis intracellular protein transport protein homooligomerization neuron projection development protein transport endocytic recycling cilium assembly transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10938 13660 Ensembl ENSG00000110047 ENSMUSG00000024772 UniProt Q9H4M9 Q9WVK4 RefSeq (mRNA) NM_001282444 NM_001282445 NM_006795 NM_010119 RefSeq (protein) NP_001269373 NP_001269374 NP_006786 NP_034249 Location (UCSC) Chr 11: 64.85 – 64.89 Mb Chr 19: 6.33 – 6.35 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

EH domain-containing protein 1, also known as testilin or PAST homolog 1 (PAST1), is a protein that in humans is encoded by the EHD1 gene belonging to the EHD protein family.

Function

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.

Interactions

EHD1 has been shown to interact with Insulin-like growth factor 1 receptor and SNAP29.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000110047 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000024772 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ "Entrez Gene: EHD1 EH-domain containing 1".
6. ^ Rotem-Yehudar, R; Galperin E; Horowitz M (Aug 2001). "Association of insulin-like growth factor 1 receptor with EHD1 and SNAP29". J. Biol. Chem. 276 (35). United States: 33054–60. doi:10.1074/jbc.M009913200. ISSN 0021-9258. PMID 11423532.

Further reading

• Di Fiore PP, Pelicci PG, Sorkin A (1998). "EH: a novel protein-protein interaction domain potentially involved in intracellular sorting". Trends Biochem. Sci. 22 (11): 411–3. doi:10.1016/S0968-0004(97)01127-4. PMID 9397678.
• Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Yu W, Andersson B, Worley KC, et al. (1997). "Large-Scale Concatenation cDNA Sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Guru SC, Agarwal SK, Manickam P, et al. (1997). "A Transcript Map for the 2.8-Mb Region Containing the Multiple Endocrine Neoplasia Type 1 Locus". Genome Res. 7 (7): 725–35. doi:10.1101/gr.7.7.725. PMC 310681. PMID 9253601.
• Mintz L, Galperin E, Pasmanik-Chor M, et al. (1999). "EHD1--an EH-domain-containing protein with a specific expression pattern". Genomics. 59 (1): 66–76. doi:10.1006/geno.1999.5800. PMID 10395801.
• Haider NB, Searby C, Galperin E, et al. (2000). "Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1)". Gene. 240 (1): 227–32. doi:10.1016/S0378-1119(99)00395-9. PMID 10564830.
• Pohl U, Smith JS, Tachibana I, et al. (2000). "EHD2, EHD3, and EHD4 encode novel members of a highly conserved family of EH domain-containing proteins". Genomics. 63 (2): 255–62. doi:10.1006/geno.1999.6087. PMID 10673336.
• Rotem-Yehudar R, Galperin E, Horowitz M (2001). "Association of insulin-like growth factor 1 receptor with EHD1 and SNAP29". J. Biol. Chem. 276 (35): 33054–60. doi:10.1074/jbc.M009913200. PMID 11423532.
• Caplan S, Naslavsky N, Hartnell LM, et al. (2002). "A tubular EHD1-containing compartment involved in the recycling of major histocompatibility complex class I molecules to the plasma membrane". EMBO J. 21 (11): 2557–67. doi:10.1093/emboj/21.11.2557. PMC 126039. PMID 12032069.
• Galperin E, Benjamin S, Rapaport D, et al. (2003). "EHD3: a protein that resides in recycling tubular and vesicular membrane structures and interacts with EHD1". Traffic. 3 (8): 575–89. doi:10.1034/j.1600-0854.2002.30807.x. PMID 12121420. S2CID 5998465.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801. S2CID 23783563.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Naslavsky N, Boehm M, Backlund PS, Caplan S (2005). "Rabenosyn-5 and EHD1 Interact and Sequentially Regulate Protein Recycling to the Plasma Membrane". Mol. Biol. Cell. 15 (5): 2410–22. doi:10.1091/mbc.E03-10-0733. PMC 404033. PMID 15020713.
• Guilherme A, Soriano NA, Furcinitti PS, Czech MP (2004). "Role of EHD1 and EHBP1 in perinuclear sorting and insulin-regulated GLUT4 recycling in 3T3-L1 adipocytes". J. Biol. Chem. 279 (38): 40062–75. doi:10.1074/jbc.M401918200. PMID 15247266.
• Xu Y, Shi H, Wei S, et al. (2005). "Mutually exclusive interactions of EHD1 with GS32 and syndapin II". Mol. Membr. Biol. 21 (4): 269–77. doi:10.1080/09687680410001716871. PMID 15371016. S2CID 22820496.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Lee DW, Zhao X, Scarselletta S, et al. (2005). "ATP binding regulates oligomerization and endosome association of RME-1 family proteins". J. Biol. Chem. 280 (17): 17213–20. doi:10.1074/jbc.M412751200. PMID 15710626.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.

This article on a gene on human chromosome 11 is a stub. You can help Misplaced Pages by expanding it.

• v
• t
• e

• Genes on human chromosome 11
• Human chromosome 11 gene stubs
• EH-domain-containing proteins