TRU-TCA1-1

Summary

TRU-TCA1-1 (tRNA-SeC (anticodon TCA) 1-1, HGNC:12348) is a gene on chromosome 19q13.2-q13.3.

Opal suppressor phosphoserine tRNAs are the only authentic, naturally occurring suppressor tRNAs in higher eukaryotes. The human genome contains a single opal suppressor phosphoserine tRNA gene, TRNAU1 (O’Neill et al., 1985 [PubMed 3156131]).

Source: NCBI Gene 7234 — RefSeq curated summary.

At a glance

• Gene–disease (curated): thyroid hormone metabolism, abnormal, 3 (Moderate, GenCC)
• Clinical variants (ClinVar): 1 total — 1 pathogenic
• Phenotypes (HPO): 13

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12348
Approved symbol	TRU-TCA1-1
Name	tRNA-SeC (anticodon TCA) 1-1
Location	19q13.2-q13.3
Locus type	RNA, transfer
Status	Approved
Aliases	tRNA(Sec), tRNA-SeC-TCA-1-1
OMIM	165060
Entrez	7234
RNAcentral	URS00001DA281 — tRNA, 87 nt, 72 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

None — 0 exons

Expression profiles

Top tissues by expression

0 total, by Bgee expression score (0-100, higher = more expressed):

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): PHF20, ZNF143, ZNF91

Literature-anchored findings (GeneRIF, showing 1)

• Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency. (PMID:34884733)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Canonical reviewed UniProt: None (reviewed: )

All UniProt accessions (0):

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

1 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
217868	NC_000019.10:g.45478610G>C	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

Disease associations

OMIM: gene MIM:165060 | disease phenotypes: MIM:609698, MIM:620198

GenCC curated gene-disease

Disease	Classification	Inheritance
thyroid hormone metabolism, abnormal, 3	Moderate	Autosomal recessive

Mondo (2): thyroid hormone metabolism, abnormal 1 (MONDO:0800046), thyroid hormone metabolism, abnormal, 3 (MONDO:0859354)

Orphanet (1): Short stature-delayed bone age due to thyroid hormone metabolism deficiency (Orphanet:171706)

HPO phenotypes

13 total (13 of 13 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001324	Muscle weakness
HP:0002027	Abdominal pain
HP:0003388	Easy fatigability
HP:0003621	Juvenile onset
HP:0008247	Euthyroid hyperthyroxinemia
HP:0011788	Increased circulating free T3
HP:0031097	Abnormal thyroid-stimulating hormone level
HP:0032209	Abnormal circulating free T3 concentration
HP:0033076	Abnormal circulating free T4 concentration
HP:0033077	Increased circulating free T4 concentration
HP:0033192	Decreased circulating selenium concentration
HP:0034288	Elevated circulating reverse T3 concentration

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C566454	Thyroid Hormone Metabolism, Abnormal (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 0 entries

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	decreases expression, increases abundance	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.