GATD3A

Protein-coding gene in the species Homo sapiens
GATD3
Identifiers
AliasesGATD3, 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 IDsOMIM: 601659; MGI: 1351861; HomoloGene: 3416; GeneCards: GATD3; OMA:GATD3 - orthologs
Gene location (Human)
Chromosome 21 (human)
Chr.Chromosome 21 (human)[1]
Chromosome 21 (human)
Genomic location for GATD3
Genomic location for GATD3
Band21q22.3Start44,133,610 bp[1]
End44,210,114 bp[1]
Gene location (Mouse)
Chromosome 10 (mouse)
Chr.Chromosome 10 (mouse)[2]
Chromosome 10 (mouse)
Genomic location for GATD3
Genomic location for GATD3
Band10 C1|10 39.72 cMStart77,997,900 bp[2]
End78,005,616 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
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
BioGPS


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

8209

28295

Ensembl

ENSG00000160221

ENSMUSG00000053329

UniProt

F2Z2Q0
H7C1F6

Q9D172

RefSeq (mRNA)

NM_004649
NM_198155
NM_001320383
NM_001320384

NM_138601
NM_001364646

RefSeq (protein)
NP_001307312
NP_001307313
NP_004640
NP_937798
NP_001350687

NP_001350689
NP_001350690

NP_613067
NP_001351575

Location (UCSC)Chr 21: 44.13 – 44.21 MbChr 10: 78 – 78.01 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000160221 – Ensembl, May 2017
  2. ^ a b c 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.
  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.
  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.
  7. ^ "GATD3A glutamine amidotransferase like class 1 domain containing 3A [ Homo sapiens (human) ]".

Further reading

  • 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.
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Mitochondrial proteins
Outer membrane
fatty acid degradation
tryptophan metabolism
monoamine neurotransmitter
metabolism
Intermembrane spaceInner membrane
oxidative phosphorylation
pyrimidine metabolism
mitochondrial shuttle
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Matrix
citric acid cycle
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urea cycle
alcohol metabolism
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Mitochondrial DNA
Complex I
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tRNA
see also mitochondrial diseases
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