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ESAM (gene)

From Wikipedia, the free encyclopedia
ESAM
Identifiers
AliasesESAM, W117m, endothelial cell adhesion molecule
External IDsOMIM: 614281; MGI: 1916774; HomoloGene: 12316; GeneCards: ESAM; OMA:ESAM - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_138961

NM_027102

RefSeq (protein)

NP_620411

NP_081378

Location (UCSC)Chr 11: 124.75 – 124.76 MbChr 9: 37.44 – 37.45 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000149564Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001946Ensembl, 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

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