GATC glutamyl-tRNA amidotransferase subunit C [Homo sapiens (human)] - Gene

Summary

Official Symbol: GATCprovided by HGNC
Official Full Name: glutamyl-tRNA amidotransferase subunit Cprovided by HGNC
Primary source: HGNC:HGNC:25068
See related: Ensembl:ENSG00000257218 MIM:617210; AllianceGenome:HGNC:25068
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: 15E1.2; COXPD42
Summary: Predicted to enable ATP binding activity and glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. Involved in glutaminyl-tRNAGln biosynthesis via transamidation and mitochondrial translation. Located in mitochondrion. Part of glutamyl-tRNA(Gln) amidotransferase complex. Implicated in combined oxidative phosphorylation deficiency 42. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thyroid (RPKM 15.5), lymph node (RPKM 14.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.31

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (120446444..120463749)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (120434957..120452263)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (120884247..120901552)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The mitochondrial defective phenotype provoked by the absence of gatA in human cells is confirmed by means of a deficient ability to grow when galactose is used as a carbon source.
Title: Glutamyl-tRNAGln amidotransferase is essential for mammalian mitochondrial translation in vivo.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Studies showed in vitro Gln-tRNA(Gln) formation catalyzed by the recombinant mtGluRS and hGatCAB.
Title: Biogenesis of glutaminyl-mt tRNAGln in human mitochondria.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Combined oxidative phosphorylation deficiency 42 MedGen: C5394237 OMIM: 618839 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

GDB:313261 (e-PCR)
- UniSTS:156445

G19881 (e-PCR)
- UniSTS:63784

A002B13 (e-PCR)
- UniSTS:63785

RH44493 (e-PCR)
- UniSTS:32056

RH80576 (e-PCR)
- UniSTS:89678

STS-W73277 (e-PCR)
- UniSTS:16212

G64611 (e-PCR)
- UniSTS:163953

SFRS9_8845 (e-PCR)
- UniSTS:467880

Cda16c02 (e-PCR)
- UniSTS:90808

L17702 (e-PCR)
- UniSTS:14283

NoName (e-PCR)
- UniSTS:486614

SHGC-84921 (e-PCR)
- UniSTS:104953

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in glutaminyl-tRNAGln biosynthesis via transamidation	IBA Inferred from Biological aspect of Ancestor more info
involved_in glutaminyl-tRNAGln biosynthesis via transamidation	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial translation	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial translation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of translational fidelity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of glutamyl-tRNA(Gln) amidotransferase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of glutamyl-tRNA(Gln) amidotransferase complex	IDA Inferred from Direct Assay more info	PubMed
part_of glutamyl-tRNA(Gln) amidotransferase complex	IPI Inferred from Physical Interaction more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial

Names: glu-AdT subunit C; glutamyl-tRNA(Gln) amidotransferase, subunit C homolog

NP_789788.1

EC 6.3.5.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_176818.3 → NP_789788.1 glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial

See identical proteins and their annotated locations for NP_789788.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript.

Source sequence(s)

AL021546, BC107145

Consensus CDS

CCDS31911.1

UniProtKB/Swiss-Prot

B3KSU7, O43716, Q3B824, Q3KNR8

Related

ENSP00000446872.1, ENST00000551765.6

Conserved Domains (1) summary

PRK00034
Location:31 → 118

gatC; aspartyl/glutamyl-tRNA amidotransferase subunit C; Reviewed

RNA

NR_033684.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an additional coding exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon as used in variant 1 renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL021546, BC047778