Seroatlas · Human Serome Atlas

GTPBP3

5-taurinomethyluridine-[tRNA] synthase subunit GTPB3, mitochondrial

Also known as: FLJ14700, GTPB3_HUMAN, GTPBG3, MSS1, MTGP1, THDF1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q969Y2
Gene: GTPBP3
Ensembl: ENSG00000130299
Chromosome: 19
Canonical length: 492 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Mitochondria
Quaternary structure: Homodimer

OverviewNCBI Gene

This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010]

Canonical amino-acid sequenceUniProt

492 residues, UniProt reviewed canonical sequence.

>Q969Y2|GTPBP3
     1  MWRGLWTLAA QAARGPRRLC TRRSSGAPAP GSGATIFALS SGQGRCGIAV IRTSGPASGH
    61  ALRILTAPRD LPLARHASLR LLSDPRSGEP LDRALVLWFP GPQSFTGEDC VEFHVHGGPA
   121  VVSGVLQALG SVPGLRPAEA GEFTRRAFAN GKLNLTEVEG LADLIHAETE AQRRQALRQL
   181  DGELGHLCRG WAETLTKALA HVEAYIDFGE DDNLEEGVLE QADIEVRALQ VALGAHLRDA
   241  RRGQRLRSGV HVVVTGPPNA GKSSLVNLLS RKPVSIVSPE PGTTRDVLET PVDLAGFPVL
   301  LSDTAGLREG VGPVEQEGVR RARERLEQAD LILAMLDASD LASPSSCNFL ATVVASVGAQ
   361  SPSDSSQRLL LVLNKSDLLS PEGPGPGPDL PPHLLLSCLT GEGLDGLLEA LRKELAAVCG
   421  DPSTDPPLLT RARHQHHLQG CLDALGHYKQ SKDLALAAEA LRVARGHLTR LTGGGGTEEI
   481  LDIIFQDFCV GK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GTPBP3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 15 nTPM

Expression across tissuesHPA

Tissue

skin: 15 nTPM
liver: 14 nTPM
adrenal gland: 13 nTPM
esophagus: 13 nTPM
spleen: 12 nTPM
pancreas: 12 nTPM

Single-cell type

migrating cytotrophoblasts: 31 nCPM
extravillous trophoblasts: 29 nCPM
breast lactating cells: 29 nCPM
cytotrophoblasts: 26 nCPM
esophageal basal cells: 23 nCPM
enteric stem cells: 20 nCPM

Immune cell

plasmacytoid DC: 6.7 nTPM
NK-cell: 5.2 nTPM
naive CD4 T-cell: 4.9 nTPM
gdT-cell: 4.8 nTPM
naive CD8 T-cell: 4.6 nTPM
memory CD4 T-cell: 4.5 nTPM

Brain region

pons: 16 nTPM
medulla oblongata: 14 nTPM
hypothalamus: 13 nTPM
midbrain: 13 nTPM
thalamus: 12 nTPM
cerebral cortex: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GTPBP3.

Disease | AllUniProt

Conditions GTPBP3 is implicated in, by any mechanism.

Combined oxidative phosphorylation deficiency 23 (COXPD23) MIM:616198

Disease | GeneticClinVar

48 pathogenic / likely-pathogenic of 623 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Combined oxidative phosphorylation defect type 23
See cases
GTPBP3-related disorder
Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.22
gnomAD pLI: 0
gnomAD missense Z: -0.01
DepMap mean gene effect: -0.19
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Small GTP-binding domain
GTP binding domain
Aminomethyltransferase superfamily
P-loop containing nucleoside triphosphate hydrolase
50S ribosome-binding GTPase
tRNA modification GTPase MnmE
GTP-binding protein TrmE, N-terminal
MnmE, helical domain
tRNA modification GTPase MnmE domain 2
TrmE-type guanine nucleotide-binding domain
GTP-binding protein TrmE N-terminus
MnmE helical domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GTPBP3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

MTO1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GTPBP3 as an antibody target. Whether an autoantibody or antibody against GTPBP3 could matter depends on whether native GTPBP3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GTPBP3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GTPBP3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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