ESAM (gene)

ESAM
Identifiers
Aliases	ESAM , W117m, endothelial cell adhesion molecule
External IDs	OMIM: 614281; MGI: 1916774; HomoloGene: 12316; GeneCards: ESAM; OMA:ESAM - orthologs
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11q24.2 Start 124,752,583 bp [1] End 124,762,290 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9|9 A4 Start 37,439,374 bp [2] End 37,449,615 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lung right lobe of thyroid gland left lobe of thyroid gland upper lobe of left lung right coronary artery popliteal artery tibial arteries apex of heart left coronary artery subcutaneous adipose tissue Top expressed in right lung lobe left lung left lung lobe interventricular septum decidua digastric muscle gastrula cardiac muscles myocardium of ventricle right ventricle More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 90952 69524 Ensembl ENSG00000149564 ENSMUSG00000001946 UniProt Q96AP7 Q925F2 RefSeq (mRNA) NM_138961 NM_027102 RefSeq (protein) NP_620411 NP_081378 Location (UCSC) Chr 11: 124.75 – 124.76 Mb Chr 9: 37.44 – 37.45 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Endothelial cell-selective adhesion molecule is a protein that in humans is encoded by the ESAM gene. ^{[5] [6] [7]} A mutation in the ESAM gene is known to cause fetal intracranial hemorrhaging. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000149564 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000001946 – 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. Hirata Ki, Ishida T, Penta K, Rezaee M, Yang E, Wohlgemuth J, Quertermous T (May 2001). "Cloning of an immunoglobulin family adhesion molecule selectively expressed by endothelial cells". J Biol Chem. 276 (19): 16223–16231. doi: 10.1074/jbc.M100630200 . PMID   11279107.
6. Sim DL, Yeo WM, Chow VT (Mar 2002). "The novel human HUEL (C4orf1) protein shares homology with the DNA-binding domain of the XPA DNA repair protein and displays nuclear translocation in a cell cycle-dependent manner". Int J Biochem Cell Biol. 34 (5): 487–504. doi:10.1016/S1357-2725(01)00156-X. PMID   11906820.
7. "Entrez Gene: ESAM endothelial cell adhesion molecule".
8. "Entry - #620371 - NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY; NEDIHSS - OMIM". omim.org. Retrieved 2024-11-19.

Further reading

• Nasdala I, Wolburg-Buchholz K, Wolburg H, et al. (2002). "A transmembrane tight junction protein selectively expressed on endothelial cells and platelets". J. Biol. Chem. 277 (18): 16294–16303. doi: 10.1074/jbc.M111999200 . PMID   11847224.
• 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): 16899–16903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–2270. doi:10.1101/gr.1293003. PMC   403697 . PMID   12975309.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi: 10.1038/ng1285 . PMID   14702039.
• Zhang Z, Henzel WJ (2005). "Signal peptide prediction based on analysis of experimentally verified cleavage sites". Protein Sci. 13 (10): 2819–2824. doi:10.1110/ps.04682504. PMC   2286551 . PMID   15340161.
• 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): 2121–2127. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–126. doi: 10.1093/dnares/12.2.117 . PMID   16303743.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC   1356129 . PMID   16344560.