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Protein

CCA tRNA nucleotidyltransferase 1, mitochondrial

Gene

TRNT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Isoform 1: Adds and repairs the conserved 3'-CCA sequence necessary for the attachment of amino acids to the 3' terminus of tRNA molecules, using CTP and ATP as substrates.1 Publication
Isoform 2: Adds 2 C residues (CC-) to the 3' terminus of tRNA molecules instead of a complete CCA end as isoform 1 does (in vitro).1 Publication

Catalytic activityi

A tRNA precursor + 2 CTP + ATP = a tRNA with a 3' CCA end + 3 diphosphate.1 Publication

Cofactori

Mg2+Curated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei77By similarity1
Active sitei79By similarity1
Active sitei121By similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionNucleotidyltransferase, RNA-binding, Transferase
Biological processtRNA processing
LigandATP-binding, Magnesium, Nucleotide-binding

Enzyme and pathway databases

BRENDAi2.7.7.72 2681
ReactomeiR-HSA-6784531 tRNA processing in the nucleus
R-HSA-6785470 tRNA processing in the mitochondrion

Names & Taxonomyi

Protein namesi
Recommended name:
CCA tRNA nucleotidyltransferase 1, mitochondrial (EC:2.7.7.721 Publication)
Alternative name(s):
Mitochondrial tRNA nucleotidyl transferase, CCA-adding
mt CCA-adding enzyme
mt tRNA CCA-diphosphorylase
mt tRNA CCA-pyrophosphorylase
mt tRNA adenylyltransferase
Gene namesi
Name:TRNT1
ORF Names:CGI-47
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000072756.16
HGNCiHGNC:17341 TRNT1
MIMi612907 gene
neXtProtiNX_Q96Q11

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by severe sideroblastic anemia with onset in the neonatal period or infancy, recurrent periodic fevers without an infectious etiology, B-cell lymphopenia and hypogammaglobulinemia. Affected individuals show delayed psychomotor development with variable neurodegeneration. Additional variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy.
See also OMIM:616084
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072421154T → I in SIFD; reduced activity. 1 PublicationCorresponds to variant dbSNP:rs606231290EnsemblClinVar.1
Natural variantiVAR_072422158M → V in SIFD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs771781629Ensembl.1
Natural variantiVAR_072423166L → S in SIFD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs606231289EnsemblClinVar.1
Natural variantiVAR_072424190R → I in SIFD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs606231287EnsemblClinVar.1
Natural variantiVAR_072425223I → T in SIFD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs370011798EnsemblClinVar.1
Natural variantiVAR_072426326I → T in SIFD; loss of activity. 1 Publication1
Natural variantiVAR_072427416K → E in SIFD. 1 PublicationCorresponds to variant dbSNP:rs199931785Ensembl.1
Retinitis pigmentosa and erythrocytic microcytosis (RPEM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by retinitis pigmentosa, red blood cell microcytosis and anisocytosis with mild anemia.
See also OMIM:616959
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07692443Missing in RPEM. 1 Publication1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi51095
MalaCardsiTRNT1
MIMi616084 phenotype
616959 phenotype
OpenTargetsiENSG00000072756
Orphaneti369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
PharmGKBiPA38446

Polymorphism and mutation databases

BioMutaiTRNT1
DMDMi296452848

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 41MitochondrionSequence analysisAdd BLAST41
ChainiPRO_000000478242 – 434CCA tRNA nucleotidyltransferase 1, mitochondrialAdd BLAST393

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi373Interchain
Modified residuei400PhosphoserineCombined sources1
Modified residuei402N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Disulfide bond, Phosphoprotein

Proteomic databases

EPDiQ96Q11
MaxQBiQ96Q11
PaxDbiQ96Q11
PeptideAtlasiQ96Q11
PRIDEiQ96Q11
ProteomicsDBi77807
77808 [Q96Q11-2]
77809 [Q96Q11-3]

PTM databases

iPTMnetiQ96Q11
PhosphoSitePlusiQ96Q11

Expressioni

Gene expression databases

BgeeiENSG00000072756 Expressed in 200 organ(s), highest expression level in frontal cortex
CleanExiHS_TRNT1
ExpressionAtlasiQ96Q11 baseline and differential
GenevisibleiQ96Q11 HS

Organism-specific databases

HPAiHPA036938

Interactioni

Subunit structurei

Monomer, and homodimer; disulfide-linked.

Protein-protein interaction databases

BioGridi119284, 25 interactors
IntActiQ96Q11, 2 interactors
STRINGi9606.ENSP00000251607

Structurei

Secondary structure

1434
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ96Q11
SMRiQ96Q11
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96Q11

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2159 Eukaryota
COG0617 LUCA
GeneTreeiENSGT00390000009678
HOGENOMiHOG000253345
HOVERGENiHBG061403
InParanoidiQ96Q11
KOiK00974
OMAiQGEHCLL
OrthoDBiEOG091G09KX
PhylomeDBiQ96Q11
TreeFamiTF313253

Family and domain databases

CDDicd05398 NT_ClassII-CCAase, 1 hit
InterProiView protein in InterPro
IPR002646 PolA_pol_head_dom
IPR032828 PolyA_RNA-bd
PfamiView protein in Pfam
PF01743 PolyA_pol, 1 hit
PF12627 PolyA_pol_RNAbd, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96Q11-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLRCLYHWHR PVLNRRWSRL CLPKQYLFTM KLQSPEFQSL FTEGLKSLTE
60 70 80 90 100
LFVKENHELR IAGGAVRDLL NGVKPQDIDF ATTATPTQMK EMFQSAGIRM
110 120 130 140 150
INNRGEKHGT ITARLHEENF EITTLRIDVT TDGRHAEVEF TTDWQKDAER
160 170 180 190 200
RDLTINSMFL GFDGTLFDYF NGYEDLKNKK VRFVGHAKQR IQEDYLRILR
210 220 230 240 250
YFRFYGRIVD KPGDHDPETL EAIAENAKGL AGISGERIWV ELKKILVGNH
260 270 280 290 300
VNHLIHLIYD LDVAPYIGLP ANASLEEFDK VSKNVDGFSP KPVTLLASLF
310 320 330 340 350
KVQDDVTKLD LRLKIAKEEK NLGLFIVKNR KDLIKATDSS DPLKPYQDFI
360 370 380 390 400
IDSREPDATT RVCELLKYQG EHCLLKEMQQ WSIPPFPVSG HDIRKVGISS
410 420 430
GKEIGALLQQ LREQWKKSGY QMEKDELLSY IKKT
Length:434
Mass (Da):50,128
Last modified:May 18, 2010 - v2
Checksum:i60B7387E203A53D0
GO
Isoform 2 (identifier: Q96Q11-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     248-267: Missing.

Show »
Length:414
Mass (Da):47,829
Checksum:i8E95DCE9B13C3743
GO
Isoform 3 (identifier: Q96Q11-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     50-57: ELFVKENH → GINAFHEN
     58-434: Missing.

Note: No experimental confirmation available.
Show »
Length:57
Mass (Da):6,937
Checksum:iB76351899690B303
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JRS7C9JRS7_HUMAN
CCA tRNA nucleotidyltransferase 1, ...
TRNT1
62Annotation score:
F8W8C3F8W8C3_HUMAN
CCA tRNA nucleotidyltransferase 1, ...
TRNT1
65Annotation score:

Sequence cautioni

The sequence AAD34042 differs from that shown. Reason: Frameshift at position 16.Curated
The sequence AAH12537 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04869823P → L6 PublicationsCorresponds to variant dbSNP:rs334773Ensembl.1
Natural variantiVAR_07692443Missing in RPEM. 1 Publication1
Natural variantiVAR_072421154T → I in SIFD; reduced activity. 1 PublicationCorresponds to variant dbSNP:rs606231290EnsemblClinVar.1
Natural variantiVAR_072422158M → V in SIFD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs771781629Ensembl.1
Natural variantiVAR_072423166L → S in SIFD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs606231289EnsemblClinVar.1
Natural variantiVAR_072424190R → I in SIFD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs606231287EnsemblClinVar.1
Natural variantiVAR_072425223I → T in SIFD; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs370011798EnsemblClinVar.1
Natural variantiVAR_072426326I → T in SIFD; loss of activity. 1 Publication1
Natural variantiVAR_072427416K → E in SIFD. 1 PublicationCorresponds to variant dbSNP:rs199931785Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00844050 – 57ELFVKENH → GINAFHEN in isoform 3. 1 Publication8
Alternative sequenceiVSP_00844158 – 434Missing in isoform 3. 1 PublicationAdd BLAST377
Alternative sequenceiVSP_008442248 – 267Missing in isoform 2. 1 PublicationAdd BLAST20

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB063105 mRNA Translation: BAB70662.1
AF151805 mRNA Translation: AAD34042.1 Frameshift.
AK290411 mRNA Translation: BAF83100.1
AL834397 mRNA Translation: CAD39059.1
AC024060 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW63886.1
BC005184 mRNA Translation: AAH05184.1
BC012537 mRNA Translation: AAH12537.1 Different initiation.
CCDSiCCDS2561.2 [Q96Q11-1]
CCDS77691.1 [Q96Q11-2]
RefSeqiNP_001289875.1, NM_001302946.1
NP_886552.2, NM_182916.2
XP_011532078.1, XM_011533776.2 [Q96Q11-1]
XP_011532079.1, XM_011533777.2 [Q96Q11-1]
XP_011532080.1, XM_011533778.2 [Q96Q11-1]
UniGeneiHs.732725

Genome annotation databases

EnsembliENST00000251607; ENSP00000251607; ENSG00000072756 [Q96Q11-1]
ENST00000280591; ENSP00000280591; ENSG00000072756 [Q96Q11-2]
ENST00000339437; ENSP00000342985; ENSG00000072756 [Q96Q11-3]
ENST00000402675; ENSP00000385745; ENSG00000072756 [Q96Q11-3]
ENST00000420393; ENSP00000400394; ENSG00000072756 [Q96Q11-3]
ENST00000434583; ENSP00000415100; ENSG00000072756 [Q96Q11-1]
GeneIDi51095
KEGGihsa:51095
UCSCiuc003bpn.2 human [Q96Q11-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB063105 mRNA Translation: BAB70662.1
AF151805 mRNA Translation: AAD34042.1 Frameshift.
AK290411 mRNA Translation: BAF83100.1
AL834397 mRNA Translation: CAD39059.1
AC024060 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW63886.1
BC005184 mRNA Translation: AAH05184.1
BC012537 mRNA Translation: AAH12537.1 Different initiation.
CCDSiCCDS2561.2 [Q96Q11-1]
CCDS77691.1 [Q96Q11-2]
RefSeqiNP_001289875.1, NM_001302946.1
NP_886552.2, NM_182916.2
XP_011532078.1, XM_011533776.2 [Q96Q11-1]
XP_011532079.1, XM_011533777.2 [Q96Q11-1]
XP_011532080.1, XM_011533778.2 [Q96Q11-1]
UniGeneiHs.732725

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1OU5X-ray3.40A/B30-434[»]
4X4WX-ray1.90A/B28-434[»]
ProteinModelPortaliQ96Q11
SMRiQ96Q11
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119284, 25 interactors
IntActiQ96Q11, 2 interactors
STRINGi9606.ENSP00000251607

PTM databases

iPTMnetiQ96Q11
PhosphoSitePlusiQ96Q11

Polymorphism and mutation databases

BioMutaiTRNT1
DMDMi296452848

Proteomic databases

EPDiQ96Q11
MaxQBiQ96Q11
PaxDbiQ96Q11
PeptideAtlasiQ96Q11
PRIDEiQ96Q11
ProteomicsDBi77807
77808 [Q96Q11-2]
77809 [Q96Q11-3]

Protocols and materials databases

DNASUi51095
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000251607; ENSP00000251607; ENSG00000072756 [Q96Q11-1]
ENST00000280591; ENSP00000280591; ENSG00000072756 [Q96Q11-2]
ENST00000339437; ENSP00000342985; ENSG00000072756 [Q96Q11-3]
ENST00000402675; ENSP00000385745; ENSG00000072756 [Q96Q11-3]
ENST00000420393; ENSP00000400394; ENSG00000072756 [Q96Q11-3]
ENST00000434583; ENSP00000415100; ENSG00000072756 [Q96Q11-1]
GeneIDi51095
KEGGihsa:51095
UCSCiuc003bpn.2 human [Q96Q11-1]

Organism-specific databases

CTDi51095
DisGeNETi51095
EuPathDBiHostDB:ENSG00000072756.16
GeneCardsiTRNT1
HGNCiHGNC:17341 TRNT1
HPAiHPA036938
MalaCardsiTRNT1
MIMi612907 gene
616084 phenotype
616959 phenotype
neXtProtiNX_Q96Q11
OpenTargetsiENSG00000072756
Orphaneti369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
PharmGKBiPA38446
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2159 Eukaryota
COG0617 LUCA
GeneTreeiENSGT00390000009678
HOGENOMiHOG000253345
HOVERGENiHBG061403
InParanoidiQ96Q11
KOiK00974
OMAiQGEHCLL
OrthoDBiEOG091G09KX
PhylomeDBiQ96Q11
TreeFamiTF313253

Enzyme and pathway databases

BRENDAi2.7.7.72 2681
ReactomeiR-HSA-6784531 tRNA processing in the nucleus
R-HSA-6785470 tRNA processing in the mitochondrion

Miscellaneous databases

ChiTaRSiTRNT1 human
EvolutionaryTraceiQ96Q11
GeneWikiiTRNT1
GenomeRNAii51095
PROiPR:Q96Q11
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000072756 Expressed in 200 organ(s), highest expression level in frontal cortex
CleanExiHS_TRNT1
ExpressionAtlasiQ96Q11 baseline and differential
GenevisibleiQ96Q11 HS

Family and domain databases

CDDicd05398 NT_ClassII-CCAase, 1 hit
InterProiView protein in InterPro
IPR002646 PolA_pol_head_dom
IPR032828 PolyA_RNA-bd
PfamiView protein in Pfam
PF01743 PolyA_pol, 1 hit
PF12627 PolyA_pol_RNAbd, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTRNT1_HUMAN
AccessioniPrimary (citable) accession number: Q96Q11
Secondary accession number(s): A8K2Z6
, B7WP13, C9JKA2, Q8ND57, Q9BS97, Q9Y362
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: May 18, 2010
Last modified: September 12, 2018
This is version 162 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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