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GATB glutamyl-tRNA amidotransferase subunit B [ Homo sapiens (human) ]

Gene ID: 5188, updated on 10-Dec-2024

Summary

Official Symbol
GATBprovided by HGNC
Official Full Name
glutamyl-tRNA amidotransferase subunit Bprovided by HGNC
Primary source
HGNC:HGNC:8849
See related
Ensembl:ENSG00000059691 MIM:603645; AllianceGenome:HGNC:8849
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
PET112; COXPD41; HSPC199; PET112L
Summary
Contributes to 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 41. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in heart (RPKM 11.7), kidney (RPKM 7.9) and 25 other tissues See more
Orthologs
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Genomic context

See GATB in Genome Data Viewer
Location:
4q31.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (151670504..151761007, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (154993606..155084109, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (152591656..152682159, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr4:152328899-152329598 and GRCh37_chr4:152329599-152330298 Neighboring gene FHIP1A divergent transcript Neighboring gene FHF complex subunit HOOK interacting protein 1A Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:152405062-152405718 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:152405719-152406374 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:152406474-152407173 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:152407174-152407872 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:152409975-152410608 Neighboring gene NANOG hESC enhancer GRCh37_chr4:152445639-152446203 Neighboring gene RN7SK pseudogene 35 Neighboring gene NANOG hESC enhancer GRCh37_chr4:152567291-152567852 Neighboring gene uncharacterized LOC107986197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:152593699-152594498 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:152608614-152609114 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:152609115-152609615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22022 Neighboring gene uncharacterized LOC105377488 Neighboring gene uncharacterized LOC127898557 Neighboring gene NANOG hESC enhancer GRCh37_chr4:152732461-152732962 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:152795151-152795762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22024 Neighboring gene uncharacterized LOC102724700

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Combined oxidative phosphorylation deficiency 41
MedGen: C5394236 OMIM: 618838 GeneReviews: Not available
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Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of glutamyl-tRNA(Gln) amidotransferase complex  
part_of glutamyl-tRNA(Gln) amidotransferase complex PubMed 
part_of glutamyl-tRNA(Gln) amidotransferase complex PubMed 
located_in mitochondrion PubMed 
is_active_in mitochondrion  
located_in mitochondrion PubMed 
located_in mitochondrion PubMed 

General protein information

Preferred Names
glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial
Names
PET112 homolog
cytochrome c oxidase assembly factor PET112 homolog
cytochrome oxidase assembly factor PET112 homolog
glutamyl-tRNA(Gln) amidotransferase, subunit B
NP_001350270.1
NP_004555.1

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)

  1. NM_001363341.2NP_001350270.1  glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, comapred to variant 1, and encodes a shorter isoform (2) , compared to isoform 1
    Source sequence(s)
    AC092611
    UniProtKB/TrEMBL
    D6REA0
    Conserved Domains (1) summary
    PRK05477
    Location:62510
    gatB; aspartyl/glutamyl-tRNA amidotransferase subunit B; Validated
  2. NM_004564.3NP_004555.1  glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_004555.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC092611, BC130348
    Consensus CDS
    CCDS3776.1
    UniProtKB/Swiss-Prot
    O75879, Q4W5M8, Q53GP4, Q9P0S6, Q9Y2B8
    UniProtKB/TrEMBL
    D6REA0
    Related
    ENSP00000263985.6, ENST00000263985.11
    Conserved Domains (3) summary
    PRK05477
    Location:62555
    gatB; aspartyl/glutamyl-tRNA amidotransferase subunit B; Validated
    pfam02637
    Location:406555
    GatB_Yqey; GatB domain
    pfam02934
    Location:65348
    GatB_N; GatB/GatE catalytic domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    151670504..151761007 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    154993606..155084109 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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