Seroatlas · Human Serome Atlas

TRNT1

CCA tRNA nucleotidyltransferase 1, mitochondrial

Also known as: CCA1, CGI-47, MtCCA, TRNT1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q96Q11
Gene
TRNT1
Ensembl
ENSG00000072756
Chromosome
3
Canonical length
434 aa
Protein class
Disease related genes, Enzymes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Mitochondria
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Canonical amino-acid sequenceUniProt

434 residues, UniProt reviewed canonical sequence.

>Q96Q11|TRNT1
     1  MLRCLYHWHR PVLNRRWSRL CLPKQYLFTM KLQSPEFQSL FTEGLKSLTE LFVKENHELR
    61  IAGGAVRDLL NGVKPQDIDF ATTATPTQMK EMFQSAGIRM INNRGEKHGT ITARLHEENF
   121  EITTLRIDVT TDGRHAEVEF TTDWQKDAER RDLTINSMFL GFDGTLFDYF NGYEDLKNKK
   181  VRFVGHAKQR IQEDYLRILR YFRFYGRIVD KPGDHDPETL EAIAENAKGL AGISGERIWV
   241  ELKKILVGNH VNHLIHLIYD LDVAPYIGLP ANASLEEFDK VSKNVDGFSP KPVTLLASLF
   301  KVQDDVTKLD LRLKIAKEEK NLGLFIVKNR KDLIKATDSS DPLKPYQDFI IDSREPDATT
   361  RVCELLKYQG EHCLLKEMQQ WSIPPFPVSG HDIRKVGISS GKEIGALLQQ LREQWKKSGY
   421  QMEKDELLSY IKKT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TRNT1 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)
0.29
Highest tissue expression
14 nTPM

Expression across tissuesHPA

Tissue

  • retina: 14 nTPM
  • bone marrow: 13 nTPM
  • urinary bladder: 12 nTPM
  • kidney: 11 nTPM
  • thyroid gland: 11 nTPM
  • placenta: 10 nTPM

Single-cell type

  • cardiomyocytes: 116 nCPM
  • mast cells: 82 nCPM
  • prostatic glandular cells: 78 nCPM
  • pituicytes/fscs: 68 nCPM
  • megakaryocyte-erythroid progenitors: 64 nCPM
  • myonuclei: 61 nCPM

Immune cell

  • basophil: 52 nTPM
  • eosinophil: 38 nTPM
  • memory B-cell: 28 nTPM
  • naive CD4 T-cell: 24 nTPM
  • NK-cell: 22 nTPM
  • memory CD4 T-cell: 22 nTPM

Brain region

  • white matter: 178 nTPM
  • cerebellum: 174 nTPM
  • cerebral cortex: 164 nTPM
  • basal ganglia: 164 nTPM
  • hypothalamus: 147 nTPM
  • thalamus: 145 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TRNT1.

Disease | AllUniProt

Conditions TRNT1 is implicated in, by any mechanism.

  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) MIM:616084
  • Retinitis pigmentosa and erythrocytic microcytosis (RPEM) MIM:616959

Disease | GeneticClinVar

81 pathogenic / likely-pathogenic of 649 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
  • Retinitis pigmentosa and erythrocytic microcytosis
  • TRNT1-related disorder
  • Retinal dystrophy
  • 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)
0.88
gnomAD pLI
0
gnomAD missense Z
-1.15
DepMap mean gene effect
-1.41
DepMap dependency class
pan

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

  • Nucleotidyltransferase superfamily
  • Poly A polymerase, head domain
  • tRNA nucleotidyltransferase/poly(A) polymerase, RNA and SrmB- binding domain
  • Bacterial CCA-adding enzyme type 3 subfamily
  • Poly A polymerase head domain
  • Probable RNA and SrmB- binding site of polymerase A

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TRNT1 as an antibody target. Whether an autoantibody or antibody against TRNT1 could matter depends on whether native TRNT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TRNT1 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 TRNT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TRNT1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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