Q9H0R6 (GATA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial
Short name=Glu-AdT subunit A
EC=6.3.5.-

Alternative name(s):
Glutaminyl-tRNA synthase-like protein 1

Gene names

Name:

QRSL1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	528 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln). Ref.6
Catalytic activity	ATP + L-glutamyl-tRNA(Gln) + L-glutamine = ADP + phosphate + L-glutaminyl-tRNA(Gln) + L-glutamate.
Subunit structure	Subunit of the heterotrimeric GatCAB amidotransferase (AdT) complex, composed of A (QRSL1), B (PET112) and C (GATC) subunits.
Subcellular location	Mitochondrion Ref.6.
Sequence similarities	Belongs to the amidase family. GatA subfamily.
Sequence caution	The sequence CAH72094.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
Biological process	Protein biosynthesis
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	ATP-binding Nucleotide-binding
Molecular function	Ligase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	glutaminyl-tRNAGln biosynthesis via transamidation Inferred from direct assay Ref.6. Source: UniProtKB mitochondrial translation Inferred from mutant phenotype Ref.6. Source: UniProtKB
Cellular component	glutamyl-tRNA(Gln) amidotransferase complex Inferred from direct assay Ref.6. Source: UniProtKB mitochondrion Inferred from direct assay Ref.6. Source: UniProtKB
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity Inferred from direct assay Ref.6. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9H0R6-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9H0R6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     284-304: EYLVPELSSEVQSLWSKAADL → VTFSFHYFTEILSSPIESTD
     305-528: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 528	528	Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial		PRO_0000316767
Sites
	Active site	76	1	Charge relay system By similarity
	Active site	171	1	Charge relay system By similarity
	Active site	195	1	Acyl-ester intermediate By similarity
Natural variations
	Alternative sequence	284 – 304	21	EYLVP…KAADL → VTFSFHYFTEILSSPIESTD in isoform 2.		VSP_030773
	Alternative sequence	305 – 528	224	Missing in isoform 2.		VSP_030774
	Natural variant	11	1	A → V. Corresponds to variant rs36016898 [ dbSNP | Ensembl ].		VAR_038389
	Natural variant	263	1	N → S. Corresponds to variant rs34221917 [ dbSNP | Ensembl ].		VAR_038390
Experimental info
	Sequence conflict	34	1	T → A in CAB66614. Ref.1
	Sequence conflict	147	1	Q → R in CAB66614. Ref.1
	Sequence conflict	172	1	S → P in CAB66614. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 5, 2008. Version 2. Checksum: 06E21A7D17A6E963	FASTA	528	57,460
	10 20 30 40 50 60 MLGRSLREVS AALKQGQITP TELCQKCLSL IKKTKFLNAY ITVSEEVALK QAEESEKRYK 70 80 90 100 110 120 NGQSLGDLDG IPIAVKDNFS TSGIETTCAS NMLKGYIPPY NATVVQKLLD QGALLMGKTN 130 140 150 160 170 180 LDEFAMGSGS TDGVFGPVKN PWSYSKQYRE KRKQNPHSEN EDSDWLITGG SSGGSAAAVS 190 200 210 220 230 240 AFTCYAALGS DTGGSTRNPA AHCGLVGFKP SYGLVSRHGL IPLVNSMDVP GILTRCVDDA 250 260 270 280 290 300 AIVLGALAGP DPRDSTTVHE PINKPFMLPS LADVSKLCIG IPKEYLVPEL SSEVQSLWSK 310 320 330 340 350 360 AADLFESEGA KVIEVSLPHT SYSIVCYHVL CTSEVASNMA RFDGLQYGHR CDIDVSTEAM 370 380 390 400 410 420 YAATRREGFN DVVRGRILSG NFFLLKENYE NYFVKAQKVR RLIANDFVNA FNSGVDVLLT 430 440 450 460 470 480 PTTLSEAVPY LEFIKEDNRT RSAQDDIFTQ AVNMAGLPAV SIPVALSNQG LPIGLQFIGR 490 500 510 520 AFCDQQLLTV AKWFEKQVQF PVIQLQELMD DCSAVLENEK LASVSLKQ
	Isoform 2 [UniParc]. Checksum: 66475B27012139E2	FASTA	303	32,374
	10 20 30 40 50 60 MLGRSLREVS AALKQGQITP TELCQKCLSL IKKTKFLNAY ITVSEEVALK QAEESEKRYK 70 80 90 100 110 120 NGQSLGDLDG IPIAVKDNFS TSGIETTCAS NMLKGYIPPY NATVVQKLLD QGALLMGKTN 130 140 150 160 170 180 LDEFAMGSGS TDGVFGPVKN PWSYSKQYRE KRKQNPHSEN EDSDWLITGG SSGGSAAAVS 190 200 210 220 230 240 AFTCYAALGS DTGGSTRNPA AHCGLVGFKP SYGLVSRHGL IPLVNSMDVP GILTRCVDDA 250 260 270 280 290 300 AIVLGALAGP DPRDSTTVHE PINKPFMLPS LADVSKLCIG IPKVTFSFHY FTEILSSPIE STD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Mammary gland and Placenta.
[3]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Placenta and Uterus.
[6]	"Biogenesis of glutaminyl-mt tRNAGln in human mitochondria." Nagao A., Suzuki T., Katoh T., Sakaguchi Y., Suzuki T. Proc. Natl. Acad. Sci. U.S.A. 106:16209-16214(2009) [PubMed: 19805282] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION.
[7]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL136679 mRNA. Translation: CAB66614.1. AK001851 mRNA. Translation: BAA91941.1. AK022251 mRNA. Translation: BAB13996.1. AK023509 mRNA. Translation: BAB14592.1. AL390074 Genomic DNA. Translation: CAH72093.1. AL390074 Genomic DNA. Translation: CAH72094.1. Sequence problems. CH471051 Genomic DNA. Translation: EAW48407.1. BC006084 mRNA. Translation: AAH06084.1. BC014389 mRNA. Translation: AAH14389.1.
IPI	IPI00090720. IPI00386916.
RefSeq	NP_060762.3. NM_018292.4.
UniGene	Hs.406917.
3D structure databases
HSSP	HSSP built from PDB template 2GI3 based on UniProtKB Q9X0Z9.
ProteinModelPortal	Q9H0R6.
SMR	Q9H0R6. Positions 1-505.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-48970N.
IntAct	Q9H0R6. 1 interaction.
STRING	Q9H0R6.
Polymorphism databases
DMDM	167016573.
Proteomic databases
PRIDE	Q9H0R6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000369046; ENSP00000358042; ENSG00000130348.
GeneID	55278.
KEGG	hsa:55278.
UCSC	uc003prl.1. human. uc003prm.1. human.
Organism-specific databases
CTD	55278.
GeneCards	GC06P107077.
HGNC	HGNC:21020. QRSL1.
HPA	HPA029585. HPA029587.
neXtProt	NX_Q9H0R6.
PharmGKB	PA128394680.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG14324.
GeneTree	ENSGT00550000074866.
HOGENOM	HBG481888.
HOVERGEN	HBG101134.
InParanoid	Q9H0R6.
OMA	TESSCYG.
OrthoDB	EOG4NZTT8.
PhylomeDB	Q9H0R6.
Gene expression databases
ArrayExpress	Q9H0R6.
Bgee	Q9H0R6.
CleanEx	HS_QRSL1.
Genevestigator	Q9H0R6.
Family and domain databases
InterPro	IPR000120. Amidase. IPR023631. Amidase_dom. IPR004412. GatA. [Graphical view]
Gene3D	G3DSA:3.90.1300.10. Amidase_sig_enz. 1 hit.
PANTHER	PTHR11895. Amidase. 1 hit.
Pfam	PF01425. Amidase. 1 hit. [Graphical view]
SUPFAM	SSF75304. Amidase_sig_enz. 1 hit.
TIGRFAMs	TIGR00132. GatA. 1 hit.
PROSITE	PS00571. AMIDASES. False negative. [Graphical view]
ProtoNet	Search...
Other
NextBio	59416.

Entry information

Entry name

GATA_HUMAN

Accession

Primary (citable) accession number: Q9H0R6
Secondary accession number(s): Q5VWJ4, Q9HA60, Q9NV19

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 5, 2008
Last sequence update:	February 5, 2008
Last modified:	January 25, 2012
This is version 74 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.