GATD3A

GATD3
Identifiers
Aliases	GATD3, ES1, GT335, HES1, KNPH, KNPI, chromosome 21 open reading frame 33, C21orf33, glutamine amidotransferase like class 1 domain containing 3A, glutamine amidotransferase class 1 domain containing 3A, GATD3A, glutamine amidotransferase class 1 domain containing 3
External IDs	OMIM: 601659; MGI: 1351861; HomoloGene: 3416; GeneCards: GATD3; OMA:GATD3 - orthologs
Gene location (Human)
Chr.	Chromosome 21 (human)
End	44,210,114 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	78,005,616 bp
RNA expression pattern
	Top expressed in
	mucosa of transverse colon; ; gastric mucosa; ; stromal cell of endometrium; ; gastrocnemius muscle; ; left ventricle; ; canal of the cervix; ; fundus; ; right hemisphere of cerebellum; ; right ovary; ; prefrontal cortex;
	Top expressed in
	right ventricle; ; myocardium of ventricle; ; digastric muscle; ; brown adipose tissue; ; sternocleidomastoid muscle; ; temporal muscle; ; cardiac muscles; ; muscle of thigh; ; triceps brachii muscle; ; interventricular septum;
	More reference expression data
	; ;
	More reference expression data
Orthologs
	8209
	28295
	ENSG00000160221
	ENSMUSG00000053329
	F2Z2Q0; H7C1F6
	Q9D172
	NM_004649; NM_198155; NM_001320383; NM_001320384
	NM_138601; NM_001364646
NP_001307312; NP_001307313; NP_004640; NP_937798; NP_001350687;
	NP_001350689; NP_001350690
	NP_613067; NP_001351575
	Wikidata
View/Edit Human	View/Edit Mouse

Glutamine amidotransferase-like class 1 domain-containing protein 3A, mitochondrial is a protein that in humans is encoded by the GATD3A gene.^[5]^[6]^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000160221 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000053329 – 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.
^ Scott HS, Chen H, Rossier C, Lalioti MD, Antonarakis SE (Jun 1997). "Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3". Hum Genet. 99 (5): 616–23. doi:10.1007/s004390050416. PMID 9150728. S2CID 22793851.
^ Lafreniere RG, Rochefort DL, Kibar Z, Fon EA, Han F, Cochius J, Kang X, Baird S, Korneluk RG, Andermann E, Rommens JM, Rouleau GA (Mar 1997). "Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3". Genomics. 38 (3): 264–72. doi:10.1006/geno.1996.0627. PMID 8975701.
^ "GATD3A glutamine amidotransferase like class 1 domain containing 3A [ Homo sapiens (human) ]".

External links

Human C21orf33 genome location and C21orf33 gene details page in the UCSC Genome Browser.
Human HES1 genome location and HES1 gene details page in the UCSC Genome Browser.

Hochstrasser DF, Frutiger S, Paquet N, et al. (1993). "Human liver protein map: a reference database established by microsequencing and gel comparison". Electrophoresis. 13 (12): 992–1001. doi:10.1002/elps.11501301201. PMID 1286669. S2CID 23518983.
Nagamine K, Kudoh J, Minoshima S, et al. (1996). "Isolation of cDNA for a novel human protein KNP-I that is homologous to the E. coli SCRP-27A protein from the autoimmune polyglandular disease type I (APECED) region of chromosome 21q22.3". Biochem. Biophys. Res. Commun. 225 (2): 608–16. doi:10.1006/bbrc.1996.1218. PMID 8753807.
Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags". Genome Res. 6 (9): 807–28. doi:10.1101/gr.6.9.807. PMID 8889549.
Kudoh J, Nagamine K, Asakawa S, et al. (1997). "Localization of 16 exons to a 450-kb region involved in the autoimmune polyglandular disease type I (APECED) on human chromosome 21q22.3". DNA Res. 4 (1): 45–52. doi:10.1093/dnares/4.1.45. PMID 9179495.
Nagamine K, Kudoh J, Minoshima S, et al. (1997). "Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21". Genomics. 42 (3): 528–31. doi:10.1006/geno.1997.4761. PMID 9205129.
Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. Bibcode:2000Natur.405..311H. doi:10.1038/35012518. PMID 10830953.
Yan B, Raben N, Plotz P (2002). "The human acid alpha-glucosidase gene is a novel target of the Notch-1/Hes-1 signaling pathway". J. Biol. Chem. 277 (33): 29760–4. doi:10.1074/jbc.M204721200. PMID 12065598.
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.
Shin JH, Weitzdoerfer R, Fountoulakis M, Lubec G (2004). "Expression of cystathionine beta-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain". Neurochem. Int. 45 (1): 73–9. doi:10.1016/j.neuint.2003.12.004. PMID 15082224. S2CID 20620865.
Hartman J, Müller P, Foster JS, et al. (2005). "HES-1 inhibits 17beta-estradiol and heregulin-beta1-mediated upregulation of E2F-1". Oncogene. 23 (54): 8826–33. doi:10.1038/sj.onc.1208139. PMID 15467735. S2CID 21768068.
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.

This article on a gene on human chromosome 21 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000160221 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000053329 – 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.

[pmid9150728-5] Scott HS, Chen H, Rossier C, Lalioti MD, Antonarakis SE (Jun 1997). "Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3". Hum Genet. 99 (5): 616–23. doi:10.1007/s004390050416. PMID 9150728. S2CID 22793851.

[pmid8975701-6] Lafreniere RG, Rochefort DL, Kibar Z, Fon EA, Han F, Cochius J, Kang X, Baird S, Korneluk RG, Andermann E, Rommens JM, Rouleau GA (Mar 1997). "Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3". Genomics. 38 (3): 264–72. doi:10.1006/geno.1996.0627. PMID 8975701.

[entrez-7] "GATD3A glutamine amidotransferase like class 1 domain containing 3A [ Homo sapiens (human) ]".

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GATD3A

Contents

See also

References

External links

Further reading