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Protein

Probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial

Gene

OSGEPL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t6A37) in mitochondrial tRNAs that read codons beginning with adenine. Probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. Involved in mitochondrial genome maintenance.UniRule annotation

Catalytic activityi

L-threonylcarbamoyladenylate + adenine(37) in tRNA = AMP + N(6)-L-threonylcarbamoyladenine(37) in tRNA.UniRule annotation

Cofactori

a divalent metal cationUniRule annotationNote: Binds 1 divalent metal cation per subunit.UniRule annotation

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi147 – 1471Divalent metal cationUniRule annotation
Metal bindingi151 – 1511Divalent metal cationUniRule annotation
Binding sitei202 – 2021SubstrateUniRule annotation
Binding sitei222 – 2221Substrate; via amide nitrogenUniRule annotation
Binding sitei226 – 2261SubstrateUniRule annotation
Binding sitei357 – 3571SubstrateUniRule annotation
Metal bindingi358 – 3581Divalent metal cationUniRule annotation

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Acyltransferase, Transferase

Keywords - Biological processi

tRNA processing

Keywords - Ligandi

Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrialUniRule annotation (EC:2.3.1.234UniRule annotation)
Alternative name(s):
N6-L-threonylcarbamoyladenine synthaseUniRule annotation
Short name:
t(6)A synthaseUniRule annotation
O-sialoglycoprotein endopeptidase-like protein 1UniRule annotation
t(6)A37 threonylcarbamoyladenosine biosynthesis protein OSGEPL1UniRule annotation
tRNA threonylcarbamoyladenosine biosynthesis protein OSGEPL1UniRule annotation
Gene namesi
Name:OSGEPL1UniRule annotation
Synonyms:GCP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:23075. OSGEPL1.

Subcellular locationi

  • Mitochondrion UniRule annotation1 Publication

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134959704.

Polymorphism and mutation databases

BioMutaiOSGEPL1.
DMDMi160013222.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 2929MitochondrionUniRule annotationAdd
BLAST
Chaini30 – 414385Probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrialPRO_0000307778Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei299 – 2991N6-acetyllysineBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9H4B0.
MaxQBiQ9H4B0.
PaxDbiQ9H4B0.
PeptideAtlasiQ9H4B0.
PRIDEiQ9H4B0.

PTM databases

iPTMnetiQ9H4B0.
PhosphoSiteiQ9H4B0.

Expressioni

Tissue specificityi

Widely expressed, with maximum expression in pituitary gland, prostate, rectum and uterus.1 Publication

Gene expression databases

BgeeiENSG00000128694.
ExpressionAtlasiQ9H4B0. baseline and differential.
GenevisibleiQ9H4B0. HS.

Organism-specific databases

HPAiHPA030693.

Interactioni

Subunit structurei

Homodimer.UniRule annotation

Protein-protein interaction databases

STRINGi9606.ENSP00000264151.

Structurei

3D structure databases

ProteinModelPortaliQ9H4B0.
SMRiQ9H4B0. Positions 39-393.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni169 – 1735Substrate bindingUniRule annotation
Regioni329 – 3302Substrate bindingUniRule annotation

Sequence similaritiesi

Belongs to the KAE1 / TsaD family.UniRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2707. Eukaryota.
COG0533. LUCA.
GeneTreeiENSGT00550000075001.
HOGENOMiHOG000109570.
HOVERGENiHBG108218.
InParanoidiQ9H4B0.
KOiK01409.
OMAiICIDHIL.
OrthoDBiEOG091G0HJR.
PhylomeDBiQ9H4B0.
TreeFamiTF314600.

Family and domain databases

HAMAPiMF_01445. TsaD. 1 hit.
InterProiIPR000905. Gcp-like_dom.
IPR017861. KAE1/TsaD.
IPR022450. TsaD.
[Graphical view]
PfamiPF00814. Peptidase_M22. 1 hit.
[Graphical view]
PRINTSiPR00789. OSIALOPTASE.
TIGRFAMsiTIGR00329. gcp_kae1. 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

Isoform 1 (identifier: Q9H4B0-1) [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
MLILTKTAGV FFKPSKRKVY EFLRSFNFHP GTLFLHKIVL GIETSCDDTA
60 70 80 90 100
AAVVDETGNV LGEAIHSQTE VHLKTGGIVP PAAQQLHREN IQRIVQEALS
110 120 130 140 150
ASGVSPSDLS AIATTIKPGL ALSLGVGLSF SLQLVGQLKK PFIPIHHMEA
160 170 180 190 200
HALTIRLTNK VEFPFLVLLI SGGHCLLALV QGVSDFLLLG KSLDIAPGDM
210 220 230 240 250
LDKVARRLSL IKHPECSTMS GGKAIEHLAK QGNRFHFDIK PPLHHAKNCD
260 270 280 290 300
FSFTGLQHVT DKIIMKKEKE EGIEKGQILS SAADIAATVQ HTMACHLVKR
310 320 330 340 350
THRAILFCKQ RDLLPQNNAV LVASGGVASN FYIRRALEIL TNATQCTLLC
360 370 380 390 400
PPPRLCTDNG IMIAWNGIER LRAGLGILHD IEGIRYEPKC PLGVDISKEV
410
GEASIKVPQL KMEI
Length:414
Mass (Da):45,123
Last modified:October 23, 2007 - v2
Checksum:iA536B333F5C6B8DD
GO
Isoform 2 (identifier: Q9H4B0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     365-414: Missing.

Show »
Length:364
Mass (Da):39,568
Checksum:i351295B50DA7FAC1
GO
Isoform 3 (identifier: Q9H4B0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     274-298: EKGQILSSAADIAATVQHTMACHLV → FLISKVEQINIPGLCLKIAAHFCRY
     299-414: Missing.

Show »
Length:298
Mass (Da):32,586
Checksum:i088C2324F21BFF9E
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti31 – 311G → E in CAC14666 (Ref. 1) Curated
Sequence conflicti209 – 2091S → P in BAB70923 (PubMed:14702039).Curated
Sequence conflicti252 – 2521S → P in BAB70923 (PubMed:14702039).Curated
Sequence conflicti332 – 3321Y → C in BAB70923 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti229 – 2291A → P.
Corresponds to variant rs3749014 [ dbSNP | Ensembl ].
VAR_036651

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei274 – 29825EKGQI…ACHLV → FLISKVEQINIPGLCLKIAA HFCRY in isoform 3. 1 PublicationVSP_028828Add
BLAST
Alternative sequencei299 – 414116Missing in isoform 3. 1 PublicationVSP_028829Add
BLAST
Alternative sequencei365 – 41450Missing in isoform 2. 1 PublicationVSP_028830Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ295148 mRNA. Translation: CAC14666.1. Different termination.
AK055441 mRNA. Translation: BAB70923.1.
AC013468 Genomic DNA. Translation: AAY14771.1.
BC011904 mRNA. Translation: AAH11904.1.
CCDSiCCDS46472.1. [Q9H4B0-1]
RefSeqiNP_071748.2. NM_022353.2. [Q9H4B0-1]
XP_005246823.1. XM_005246766.3. [Q9H4B0-1]
XP_006712748.1. XM_006712685.1. [Q9H4B0-1]
XP_011509933.1. XM_011511631.1. [Q9H4B0-1]
UniGeneiHs.60772.

Genome annotation databases

EnsembliENST00000264151; ENSP00000264151; ENSG00000128694. [Q9H4B0-1]
ENST00000519810; ENSP00000428859; ENSG00000128694. [Q9H4B0-2]
ENST00000522700; ENSP00000429697; ENSG00000128694. [Q9H4B0-1]
GeneIDi64172.
KEGGihsa:64172.
UCSCiuc002uqz.2. human. [Q9H4B0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ295148 mRNA. Translation: CAC14666.1. Different termination.
AK055441 mRNA. Translation: BAB70923.1.
AC013468 Genomic DNA. Translation: AAY14771.1.
BC011904 mRNA. Translation: AAH11904.1.
CCDSiCCDS46472.1. [Q9H4B0-1]
RefSeqiNP_071748.2. NM_022353.2. [Q9H4B0-1]
XP_005246823.1. XM_005246766.3. [Q9H4B0-1]
XP_006712748.1. XM_006712685.1. [Q9H4B0-1]
XP_011509933.1. XM_011511631.1. [Q9H4B0-1]
UniGeneiHs.60772.

3D structure databases

ProteinModelPortaliQ9H4B0.
SMRiQ9H4B0. Positions 39-393.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000264151.

PTM databases

iPTMnetiQ9H4B0.
PhosphoSiteiQ9H4B0.

Polymorphism and mutation databases

BioMutaiOSGEPL1.
DMDMi160013222.

Proteomic databases

EPDiQ9H4B0.
MaxQBiQ9H4B0.
PaxDbiQ9H4B0.
PeptideAtlasiQ9H4B0.
PRIDEiQ9H4B0.

Protocols and materials databases

DNASUi64172.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264151; ENSP00000264151; ENSG00000128694. [Q9H4B0-1]
ENST00000519810; ENSP00000428859; ENSG00000128694. [Q9H4B0-2]
ENST00000522700; ENSP00000429697; ENSG00000128694. [Q9H4B0-1]
GeneIDi64172.
KEGGihsa:64172.
UCSCiuc002uqz.2. human. [Q9H4B0-1]

Organism-specific databases

CTDi64172.
GeneCardsiOSGEPL1.
HGNCiHGNC:23075. OSGEPL1.
HPAiHPA030693.
neXtProtiNX_Q9H4B0.
PharmGKBiPA134959704.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2707. Eukaryota.
COG0533. LUCA.
GeneTreeiENSGT00550000075001.
HOGENOMiHOG000109570.
HOVERGENiHBG108218.
InParanoidiQ9H4B0.
KOiK01409.
OMAiICIDHIL.
OrthoDBiEOG091G0HJR.
PhylomeDBiQ9H4B0.
TreeFamiTF314600.

Miscellaneous databases

ChiTaRSiOSGEPL1. human.
GenomeRNAii64172.
PROiQ9H4B0.

Gene expression databases

BgeeiENSG00000128694.
ExpressionAtlasiQ9H4B0. baseline and differential.
GenevisibleiQ9H4B0. HS.

Family and domain databases

HAMAPiMF_01445. TsaD. 1 hit.
InterProiIPR000905. Gcp-like_dom.
IPR017861. KAE1/TsaD.
IPR022450. TsaD.
[Graphical view]
PfamiPF00814. Peptidase_M22. 1 hit.
[Graphical view]
PRINTSiPR00789. OSIALOPTASE.
TIGRFAMsiTIGR00329. gcp_kae1. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiOSGP2_HUMAN
AccessioniPrimary (citable) accession number: Q9H4B0
Secondary accession number(s): Q96EV9, Q96NH5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: October 23, 2007
Last modified: September 7, 2016
This is version 107 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. 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.