TRMT10A
tRNA methyltransferase 10 homolog A
Also known as: MGC27034, RG9MTD2, TM10A_HUMAN, TRM10
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8TBZ6
- Gene
- TRMT10A
- Ensembl
- ENSG00000145331
- Chromosome
- 4
- Canonical length
- 339 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli,Actin filaments,Cytosol
OverviewNCBI Gene
This gene encodes a protein that belongs to the tRNA (Guanine-1)-methyltransferase family. A similar gene in yeast modifies several different tRNA species. Mutations in this gene are associated with microcephaly, short stature, and impaired glucose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Canonical amino-acid sequenceUniProt
339 residues, UniProt reviewed canonical sequence.
>Q8TBZ6|TRMT10A
1 MSSEMLPAFI ETSNVDKKQG INEDQEESQK PRLGEGCEPI SKRQMKKLIK QKQWEEQREL
61 RKQKRKEKRK RKKLERQCQM EPNSDGHDRK RVRRDVVHST LRLIIDCSFD HLMVLKDIKK
121 LHKQIQRCYA ENRRALHPVQ FYLTSHGGQL KKNMDENDKG WVNWKDIHIK PEHYSELIKK
181 EDLIYLTSDS PNILKELDES KAYVIGGLVD HNHHKGLTYK QASDYGINHA QLPLGNFVKM
241 NSRKVLAVNH VFEIILEYLE TRDWQEAFFT ILPQRKGAVP TDKACESASH DNQSVRMEEG
301 GSDSDSSEEE YSRNELDSPH EEKQDKENHT ESTVNSLPHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TRMT10A 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)
- 0.45
- Highest tissue expression
- 9.3 nTPM
Expression across tissuesHPA
Tissue
- testis: 9.3 nTPM
- liver: 9.2 nTPM
- thyroid gland: 5.7 nTPM
- fallopian tube: 5.5 nTPM
- pancreas: 5.5 nTPM
- kidney: 4.6 nTPM
Single-cell type
- early primary spermatocytes: 114 nCPM
- late primary spermatocytes: 66 nCPM
- differentiating spermatogonia: 58 nCPM
- undifferentiated spermatogonia: 58 nCPM
- megakaryocytes: 50 nCPM
- hepatocytes: 39 nCPM
Immune cell
- naive B-cell: 5.8 nTPM
- myeloid DC: 5.2 nTPM
- neutrophil: 4.9 nTPM
- classical monocyte: 3.9 nTPM
- T-reg: 3.9 nTPM
- intermediate monocyte: 3.8 nTPM
Brain region
- white matter: 8.2 nTPM
- pons: 5.6 nTPM
- medulla oblongata: 5.5 nTPM
- spinal cord: 5 nTPM
- cerebellum: 4.9 nTPM
- basal ganglia: 4.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TRMT10A.
Disease | AllUniProt
Conditions TRMT10A is implicated in, by any mechanism.
- Microcephaly, short stature, and impaired glucose metabolism 1 (MSSGM1) MIM:616033
Disease | GeneticClinVar
24 pathogenic / likely-pathogenic of 167 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Microcephaly, short stature, and impaired glucose metabolism 1
- Inborn genetic diseases
- Syndromic Monogenic Diabetes
- Abnormality of the nervous system
- See cases
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)
- 1.18
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.44
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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
- tRNA (guanine(9)-N1)-methyltransferase, eukaryotic
- tRNA methyltransferase TRM10-type domain
- tRNA methyltransferase TRM10-type domain superfamily
- tRNA (guanine(9)-N(1))-methyltransferase TRM10/TRM10A
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TRMT10A as an antibody target. Whether an autoantibody or antibody against TRMT10A could matter depends on whether native TRMT10A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TRMT10A 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 TRMT10A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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