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Protein

CCA tRNA nucleotidyltransferase 1, mitochondrial

Gene

TRNT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity Source: UniProtKB-EC
  • ATP binding Source: UniProtKB
  • CTP:3'-cytidine-tRNA cytidylyltransferase activity Source: UniProtKB-EC
  • CTP:tRNA cytidylyltransferase activity Source: UniProtKB-EC
  • RNA polymerase activity Source: Reactome
  • tRNA adenylyltransferase activity Source: UniProtKB
  • tRNA binding Source: UniProtKB

GO - Biological processi

  • mitochondrial tRNA 3'-end processing Source: Reactome
  • protein targeting to mitochondrion Source: UniProtKB
  • tRNA 3'-end processing Source: UniProtKB
  • tRNA 3'-terminal CCA addition Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Nucleotidyltransferase, Transferase

Keywords - Biological processi

tRNA processing

Keywords - Ligandi

ATP-binding, Magnesium, Nucleotide-binding, RNA-binding

Enzyme and pathway databases

BioCyciZFISH:HS01080-MONOMER.
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

HGNCiHGNC:17341. TRNT1.

Subcellular locationi

GO - Cellular componenti

  • intracellular Source: LIFEdb
  • mitochondrial matrix Source: Reactome
  • mitochondrion Source: UniProtKB
  • nucleoplasm Source: Reactome
Complete GO annotation...

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 rs606231290dbSNPEnsembl.1
Natural variantiVAR_072422158M → V in SIFD; loss of activity. 1 PublicationCorresponds to variant rs771781629dbSNPEnsembl.1
Natural variantiVAR_072423166L → S in SIFD; loss of activity. 1 PublicationCorresponds to variant rs606231289dbSNPEnsembl.1
Natural variantiVAR_072424190R → I in SIFD; loss of activity. 1 PublicationCorresponds to variant rs606231287dbSNPEnsembl.1
Natural variantiVAR_072425223I → T in SIFD; loss of activity. 1 PublicationCorresponds to variant rs370011798dbSNPEnsembl.1
Natural variantiVAR_072426326I → T in SIFD; loss of activity. 1 Publication1
Natural variantiVAR_072427416K → E in SIFD. 1 PublicationCorresponds to variant rs199931785dbSNPEnsembl.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.

PTM databases

iPTMnetiQ96Q11.
PhosphoSitePlusiQ96Q11.

Expressioni

Gene expression databases

BgeeiENSG00000072756.
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. 24 interactors.
IntActiQ96Q11. 2 interactors.
MINTiMINT-4725447.
STRINGi9606.ENSP00000251607.

Structurei

Secondary structure

1434
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi35 – 38Combined sources4
Helixi43 – 54Combined sources12
Beta strandi59 – 62Combined sources4
Helixi64 – 70Combined sources7
Beta strandi79 – 84Combined sources6
Helixi86 – 96Combined sources11
Beta strandi99 – 101Combined sources3
Beta strandi110 – 115Combined sources6
Beta strandi118 – 124Combined sources7
Beta strandi126 – 129Combined sources4
Beta strandi137 – 140Combined sources4
Helixi144 – 150Combined sources7
Beta strandi151 – 153Combined sources3
Helixi154 – 156Combined sources3
Beta strandi169 – 171Combined sources3
Helixi172 – 177Combined sources6
Beta strandi183 – 185Combined sources3
Helixi187 – 193Combined sources7
Helixi197 – 208Combined sources12
Beta strandi210 – 213Combined sources4
Helixi217 – 226Combined sources10
Helixi227 – 232Combined sources6
Helixi235 – 247Combined sources13
Helixi251 – 260Combined sources10
Helixi264 – 267Combined sources4
Helixi275 – 285Combined sources11
Helixi292 – 296Combined sources5
Helixi297 – 299Combined sources3
Helixi304 – 313Combined sources10
Helixi317 – 329Combined sources13
Turni330 – 332Combined sources3
Beta strandi337 – 340Combined sources4
Helixi344 – 351Combined sources8
Helixi358 – 368Combined sources11
Helixi372 – 379Combined sources8
Helixi390 – 395Combined sources6
Helixi401 – 417Combined sources17
Helixi424 – 434Combined sources11

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...

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.
InterProiIPR002646. PolA_pol_head_dom.
IPR032828. PolyA_RNA-bd.
[Graphical view]
PfamiPF01743. PolyA_pol. 1 hit.
PF12627. PolyA_pol_RNAbd. 1 hit.
[Graphical view]

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

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

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 → L.6 PublicationsCorresponds to variant rs334773dbSNPEnsembl.1
Natural variantiVAR_07692443Missing in RPEM. 1 Publication1
Natural variantiVAR_072421154T → I in SIFD; reduced activity. 1 PublicationCorresponds to variant rs606231290dbSNPEnsembl.1
Natural variantiVAR_072422158M → V in SIFD; loss of activity. 1 PublicationCorresponds to variant rs771781629dbSNPEnsembl.1
Natural variantiVAR_072423166L → S in SIFD; loss of activity. 1 PublicationCorresponds to variant rs606231289dbSNPEnsembl.1
Natural variantiVAR_072424190R → I in SIFD; loss of activity. 1 PublicationCorresponds to variant rs606231287dbSNPEnsembl.1
Natural variantiVAR_072425223I → T in SIFD; loss of activity. 1 PublicationCorresponds to variant rs370011798dbSNPEnsembl.1
Natural variantiVAR_072426326I → T in SIFD; loss of activity. 1 Publication1
Natural variantiVAR_072427416K → E in SIFD. 1 PublicationCorresponds to variant rs199931785dbSNPEnsembl.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

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. 24 interactors.
IntActiQ96Q11. 2 interactors.
MINTiMINT-4725447.
STRINGi9606.ENSP00000251607.

PTM databases

iPTMnetiQ96Q11.
PhosphoSitePlusiQ96Q11.

Polymorphism and mutation databases

BioMutaiTRNT1.
DMDMi296452848.

Proteomic databases

EPDiQ96Q11.
MaxQBiQ96Q11.
PaxDbiQ96Q11.
PeptideAtlasiQ96Q11.
PRIDEiQ96Q11.

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.
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

BioCyciZFISH:HS01080-MONOMER.
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.
PROiQ96Q11.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000072756.
CleanExiHS_TRNT1.
ExpressionAtlasiQ96Q11. baseline and differential.
GenevisibleiQ96Q11. HS.

Family and domain databases

CDDicd05398. NT_ClassII-CCAase. 1 hit.
InterProiIPR002646. PolA_pol_head_dom.
IPR032828. PolyA_RNA-bd.
[Graphical view]
PfamiPF01743. PolyA_pol. 1 hit.
PF12627. PolyA_pol_RNAbd. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTRNT1_HUMAN
AccessioniPrimary (citable) accession number: Q96Q11
Secondary accession number(s): A8K2Z6
, B7WP13, C9JKA2, Q8ND57, Q9BS97, Q9Y362
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 155 of the entry and version 2 of the sequence. [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. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.