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UniProtKB - Q9H0R6 (GATA_HUMAN)

Entry version 145 (25 May 2022)
Sequence version 2 (05 Feb 2008)
Previous versions | rss
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Protein

Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial

Gene

QRSL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).

UniRule annotation1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei76Charge relay systemUniRule annotation1
Active sitei171Charge relay systemUniRule annotation1
Active sitei195Acyl-ester intermediateUniRule annotation1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionLigase
Biological processProtein biosynthesis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		6.3.5.7, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9H0R6

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9H0R6

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrialUniRule annotation (EC:6.3.5.7UniRule annotation)
Short name:
Glu-AdT subunit AUniRule annotation
Alternative name(s):
Glutaminyl-tRNA synthase-like protein 1UniRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:QRSL1UniRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:21020, QRSL1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		617209, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9H0R6

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000130348

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Combined oxidative phosphorylation deficiency 40 (COXPD40)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive mitochondrial disorder characterized by prenatal or infantile onset, fetal hydrops, severe hypertrophic cardiomyopathy, poor growth, sensorineural hearing loss, hepatic dysfunction, lactic acidosis, and decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with death occurring in infancy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_076270117G → E in COXPD40; highly decreased glutaminyl-tRNAGln biosynthesis via transamidation. 1 Publication1
Natural variantiVAR_076271133G → V in COXPD40; highly decreased glutaminyl-tRNAGln biosynthesis via transamidation. 2 PublicationsCorresponds to variant dbSNP:rs1562168768EnsemblClinVar.1
Natural variantiVAR_083983185 – 528Missing in COXPD40. 1 PublicationAdd BLAST344
Natural variantiVAR_083984196 – 199TRNP → NKNH in COXPD40; unknown pathological significance. 1 Publication4
Natural variantiVAR_083985427A → L in COXPD40; requires 2 nucleotide substitutions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1562173313EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...DisGeNETi		55278

MalaCards human disease database

More...MalaCardsi		QRSL1
MIMi618835, phenotype

Open Targets

More...OpenTargetsi		ENSG00000130348

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		570491, QRSL1-related combined oxidative phosphorylation defect

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA128394680

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9H0R6, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		QRSL1

Domain mapping of disease mutations (DMDM)

More...DMDMi		167016573

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003167671 – 528Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrialAdd BLAST528

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9H0R6

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9H0R6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9H0R6

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9H0R6

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9H0R6

PeptideAtlas

More...PeptideAtlasi		Q9H0R6

PRoteomics IDEntifications database

More...PRIDEi		Q9H0R6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		80319 [Q9H0R6-1]
80320 [Q9H0R6-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9H0R6

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q9H0R6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9H0R6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000130348, Expressed in bone marrow and 224 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9H0R6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9H0R6, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000130348, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Subunit of the heterotrimeric GatCAB amidotransferase (AdT) complex, composed of A (QRSL1), B (GATB) and C (GATC) subunits.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120566, 114 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-6174, Mitochondrial glutamyl-tRNA(Gln) amidotransferase complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9H0R6

Database of interacting proteins

More...DIPi		DIP-48970N

Protein interaction database and analysis system

More...IntActi		Q9H0R6, 16 interactors

Molecular INTeraction database

More...MINTi		Q9H0R6

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000358042

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9H0R6, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q9H0R6

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9H0R6

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni148 – 167DisorderedSequence analysisAdd BLAST20

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the amidase family. GatA subfamily.UniRule annotation

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1211, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00550000074866

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_009600_7_6_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9H0R6

Identification of Orthologs from Complete Genome Data

More...OMAi		EVSCPHF

Database of Orthologous Groups

More...OrthoDBi		1195292at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9H0R6

TreeFam database of animal gene trees

More...TreeFami		TF313766

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.90.1300.10, 1 hit

HAMAP database of protein families

More...HAMAPi		MF_00120, GatA, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000120, Amidase
IPR023631, Amidase_dom
IPR036928, AS_sf
IPR004412, GatA

The PANTHER Classification System

More...PANTHERi		PTHR11895, PTHR11895, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01425, Amidase, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF75304, SSF75304, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00132, gatA, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H0R6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLGRSLREVS AALKQGQITP TELCQKCLSL IKKTKFLNAY ITVSEEVALK 
        60         70         80         90        100
QAEESEKRYK NGQSLGDLDG IPIAVKDNFS TSGIETTCAS NMLKGYIPPY 
       110        120        130        140        150
NATVVQKLLD QGALLMGKTN LDEFAMGSGS TDGVFGPVKN PWSYSKQYRE 
       160        170        180        190        200
KRKQNPHSEN EDSDWLITGG SSGGSAAAVS AFTCYAALGS DTGGSTRNPA 
       210        220        230        240        250
AHCGLVGFKP SYGLVSRHGL IPLVNSMDVP GILTRCVDDA AIVLGALAGP 
       260        270        280        290        300
DPRDSTTVHE PINKPFMLPS LADVSKLCIG IPKEYLVPEL SSEVQSLWSK 
       310        320        330        340        350
AADLFESEGA KVIEVSLPHT SYSIVCYHVL CTSEVASNMA RFDGLQYGHR 
       360        370        380        390        400
CDIDVSTEAM YAATRREGFN DVVRGRILSG NFFLLKENYE NYFVKAQKVR 
       410        420        430        440        450
RLIANDFVNA FNSGVDVLLT PTTLSEAVPY LEFIKEDNRT RSAQDDIFTQ 
       460        470        480        490        500
AVNMAGLPAV SIPVALSNQG LPIGLQFIGR AFCDQQLLTV AKWFEKQVQF 
       510        520 
PVIQLQELMD DCSAVLENEK LASVSLKQ
Length:528
Mass (Da):57,460
Last modified:February 5, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i06E21A7D17A6E963
GO
Isoform 2 (identifier: Q9H0R6-2) [UniParc]FASTAAdd to basket

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

Show »
Length:303
Mass (Da):32,374
Checksum:i66475B27012139E2
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
X6R772X6R772_HUMAN
Glutamyl-tRNA(Gln) amidotransferase...
QRSL1
319Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti34T → A in CAB66614 (PubMed:11230166).Curated1
Sequence conflicti147Q → R in CAB66614 (PubMed:11230166).Curated1
Sequence conflicti172S → P in CAB66614 (PubMed:11230166).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03838911A → V. Corresponds to variant dbSNP:rs36016898Ensembl.1
Natural variantiVAR_076270117G → E in COXPD40; highly decreased glutaminyl-tRNAGln biosynthesis via transamidation. 1 Publication1
Natural variantiVAR_076271133G → V in COXPD40; highly decreased glutaminyl-tRNAGln biosynthesis via transamidation. 2 PublicationsCorresponds to variant dbSNP:rs1562168768EnsemblClinVar.1
Natural variantiVAR_083983185 – 528Missing in COXPD40. 1 PublicationAdd BLAST344
Natural variantiVAR_083984196 – 199TRNP → NKNH in COXPD40; unknown pathological significance. 1 Publication4
Natural variantiVAR_038390263N → S. Corresponds to variant dbSNP:rs34221917Ensembl.1
Natural variantiVAR_083985427A → L in COXPD40; requires 2 nucleotide substitutions; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1562173313EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_030773284 – 304EYLVP…KAADL → VTFSFHYFTEILSSPIESTD in isoform 2. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_030774305 – 528Missing in isoform 2. 1 PublicationAdd BLAST224

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AL136679 mRNA Translation: CAB66614.1
AK001851 mRNA Translation: BAA91941.1
AK022251 mRNA Translation: BAB13996.1
AK023509 mRNA Translation: BAB14592.1
AL390074 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48407.1
BC006084 mRNA Translation: AAH06084.1
BC014389 mRNA Translation: AAH14389.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5057.1 [Q9H0R6-1]

NCBI Reference Sequences

More...RefSeqi		NP_060762.3, NM_018292.4 [Q9H0R6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000369046.8; ENSP00000358042.4; ENSG00000130348.11

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55278

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55278

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000369046.8; ENSP00000358042.4; NM_018292.5; NP_060762.3

UCSC genome browser

More...UCSCi		uc003prm.4, human [Q9H0R6-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136679 mRNA Translation: CAB66614.1
AK001851 mRNA Translation: BAA91941.1
AK022251 mRNA Translation: BAB13996.1
AK023509 mRNA Translation: BAB14592.1
AL390074 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48407.1
BC006084 mRNA Translation: AAH06084.1
BC014389 mRNA Translation: AAH14389.1
CCDSiCCDS5057.1 [Q9H0R6-1]
RefSeqiNP_060762.3, NM_018292.4 [Q9H0R6-1]

3D structure databases

AlphaFoldDBiQ9H0R6
SMRiQ9H0R6
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi120566, 114 interactors
ComplexPortaliCPX-6174, Mitochondrial glutamyl-tRNA(Gln) amidotransferase complex
CORUMiQ9H0R6
DIPiDIP-48970N
IntActiQ9H0R6, 16 interactors
MINTiQ9H0R6
STRINGi9606.ENSP00000358042

PTM databases

iPTMnetiQ9H0R6
MetOSiteiQ9H0R6
PhosphoSitePlusiQ9H0R6

Genetic variation databases

BioMutaiQRSL1
DMDMi167016573

Proteomic databases

EPDiQ9H0R6
jPOSTiQ9H0R6
MassIVEiQ9H0R6
MaxQBiQ9H0R6
PaxDbiQ9H0R6
PeptideAtlasiQ9H0R6
PRIDEiQ9H0R6
ProteomicsDBi80319 [Q9H0R6-1]
80320 [Q9H0R6-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		32156, 155 antibodies from 23 providers

The DNASU plasmid repository

More...DNASUi		55278

Genome annotation databases

EnsembliENST00000369046.8; ENSP00000358042.4; ENSG00000130348.11
GeneIDi55278
KEGGihsa:55278
MANE-SelectiENST00000369046.8; ENSP00000358042.4; NM_018292.5; NP_060762.3
UCSCiuc003prm.4, human [Q9H0R6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55278
DisGeNETi55278

GeneCards: human genes, protein and diseases

More...GeneCardsi		QRSL1
HGNCiHGNC:21020, QRSL1
HPAiENSG00000130348, Low tissue specificity
MalaCardsiQRSL1
MIMi617209, gene
618835, phenotype
neXtProtiNX_Q9H0R6
OpenTargetsiENSG00000130348
Orphaneti570491, QRSL1-related combined oxidative phosphorylation defect
PharmGKBiPA128394680
VEuPathDBiHostDB:ENSG00000130348

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1211, Eukaryota
GeneTreeiENSGT00550000074866
HOGENOMiCLU_009600_7_6_1
InParanoidiQ9H0R6
OMAiEVSCPHF
OrthoDBi1195292at2759
PhylomeDBiQ9H0R6
TreeFamiTF313766

Enzyme and pathway databases

BRENDAi6.3.5.7, 2681
PathwayCommonsiQ9H0R6
SignaLinkiQ9H0R6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55278, 400 hits in 1079 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		QRSL1, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		55278
PharosiQ9H0R6, Tbio

Protein Ontology

More...PROi		PR:Q9H0R6
RNActiQ9H0R6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000130348, Expressed in bone marrow and 224 other tissues
ExpressionAtlasiQ9H0R6, baseline and differential
GenevisibleiQ9H0R6, HS

Family and domain databases

Gene3Di3.90.1300.10, 1 hit
HAMAPiMF_00120, GatA, 1 hit
InterProiView protein in InterPro
IPR000120, Amidase
IPR023631, Amidase_dom
IPR036928, AS_sf
IPR004412, GatA
PANTHERiPTHR11895, PTHR11895, 1 hit
PfamiView protein in Pfam
PF01425, Amidase, 1 hit
SUPFAMiSSF75304, SSF75304, 1 hit
TIGRFAMsiTIGR00132, gatA, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGATA_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H0R6
Secondary accession number(s): Q5VWJ4, Q9HA60, Q9NV19
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: February 5, 2008
Last modified: May 25, 2022
This is version 145 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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