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ESD (gene)

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

ESD

Available structures

PDB

Human UniProt search:PDBe RCSB

List of PDB id codes
3FCX

Identifiers

Aliases

ESD, FGH, esterase D

External IDs

OMIM:133280;MGI:3781082;HomoloGene:55623;GeneCards:ESD;OMA:ESD - orthologs

Gene location (Human)

Chr.	Chromosome 13 (human)^[1]

Band	13q14.2	Start	46,771,256bp^[1]
Band	13q14.2	End	46,797,420bp^[1]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

popliteal artery

tibial arteries

Descending thoracic aorta

hair follicle

germinal epithelium

right coronary artery

Epithelium of choroid plexus

optic nerve

ganglionic eminence

retinal pigment epithelium

n/a

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	S-formylglutathione hydrolase activity methylumbelliferyl-acetate deacetylase activity carboxylic ester hydrolase activity protein binding hydrolase activity hydrolase activity, acting on ester bonds identical protein binding
Cellular component	cytoplasm extracellular exosome endoplasmic reticulum lumen cytoplasmic vesicle cytosol
Biological process	formaldehyde catabolic process glutathione derivative biosynthetic process biological process
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

Entrez


2098


100040682

Ensembl


ENSG00000139684


n/a

UniProt


P10768


n/a

RefSeq (mRNA)


NM_001984


XM_036158963

RefSeq (protein)


NP_001975


n/a

Location (UCSC)

Chr 13: 46.77 – 46.8 Mb

n/a

PubMed search

^[2]

^[3]

Wikidata

View/Edit Human

View/Edit Mouse

S-formylglutathione hydrolase is anenzyme that in humans is encoded by theESDgene.^[4]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000139684 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Entrez Gene: ESD esterase D/formylglutathione hydrolase".

Munier F, Balmer A, von Moos C, et al. (1991). "[Lausanne study of retinoblastoma, 1986-90: deletion of esterase D locus in a collective of 128 patients]".Klinische Monatsblätter für Augenheilkunde.198 (5):419–24.doi:10.1055/s-2008-1045999.PMID 1886375.S2CID 260193010.
Young LJ,Lee EY, To HA, et al. (1988). "Human esterase D gene: complete cDNA sequence, genomic structure, and application in the genetic diagnosis of human retinoblastoma".Hum. Genet.79 (2):137–41.doi:10.1007/BF00280552.PMID 3164702.S2CID 25789298.
Lee EY, Lee WH (1986)."Molecular cloning of the human esterase D gene, a genetic marker of retinoblastoma".Proc. Natl. Acad. Sci. U.S.A.83 (17):6337–41.Bibcode:1986PNAS...83.6337L.doi:10.1073/pnas.83.17.6337.PMC 386498.PMID 3462698.
Squire J, Dryja TP, Dunn J, et al. (1986)."Cloning of the esterase D gene: a polymorphic gene probe closely linked to the retinoblastoma locus on chromosome 13".Proc. Natl. Acad. Sci. U.S.A.83 (17):6573–7.Bibcode:1986PNAS...83.6573S.doi:10.1073/pnas.83.17.6573.PMC 386546.PMID 3462714.
Lee WH, Wheatley W, Benedict WF, et al. (1986)."Purification, biochemical characterization, and biological function of human esterase D."Proc. Natl. Acad. Sci. U.S.A.83 (18):6790–4.Bibcode:1986PNAS...83.6790L.doi:10.1073/pnas.83.18.6790.PMC 386595.PMID 3462728.
Cortivo P, Caenazzo L, Crestani C, et al. (1987). "Genetic study of red cell esterase D polymorphism by ultrathin layer isoelectric focusing. Distribution in the Veneto population (Italy)".Z. Rechtsmed.98 (1):39–42.doi:10.1007/BF00200384.PMID 3591015.S2CID 24618583.
Eiberg H, Mohr J (1986). "Identity of the polymorphisms for esterase D and S-formylglutathione hydrolase in red blood cells".Hum. Genet.74 (2):174–5.doi:10.1007/BF00282085.PMID 3770744.S2CID 27095525.
Tsuchida S, Fukui E, Ikemoto S (1994). "Molecular analysis of esterase D polymorphism".Hum. Genet.93 (3):255–8.doi:10.1007/BF00212018.PMID 7907313.S2CID 28243346.
Hu RM, Han ZG, Song HD, et al. (2000)."Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning".Proc. Natl. Acad. Sci. U.S.A.97 (17):9543–8.Bibcode:2000PNAS...97.9543H.doi:10.1073/pnas.160270997.PMC 16901.PMID 10931946.
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.
Saito S, Iida A, Sekine A, et al. (2003)."Catalog of 680 variations among eight cytochrome p450 ( CYP) genes, nine esterase genes, and two other genes in the Japanese population".J. Hum. Genet.48 (5):249–70.doi:10.1007/s10038-003-0021-7.PMID 12721789.
Sergeev AS, Agapova RK, Bogadel'nikova IV, Perel'man MI (2003). "[The use of discrete characters in discriminant analysis for diagnosis of pulmonary tuberculosis and for classification of patients differing in treatment efficiency based on polymorphisms at nine codominant loci-HP, GC, TF, PI, PGM1, GLO1, C3, ACP1 and ESD]".Genetika.39 (7):996–1002.PMID 12942785.
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.
Dunham A, Matthews LH, Burton J, et al. (2004)."The DNA sequence and analysis of human chromosome 13".Nature.428 (6982):522–8.Bibcode:2004Natur.428..522D.doi:10.1038/nature02379.PMC 2665288.PMID 15057823.
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.

External links

[edit]

Overview of all the structural information available in thePDB forUniProt:P10768 (S-formylglutathione hydrolase) at thePDBe-KB.

This article on agene on humanchromosome 13 is astub. You can help Wikipedia byadding missing information.

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