Q7L3T8 · SYPM_HUMAN
- ProteinProbable proline--tRNA ligase, mitochondrial
- GenePARS2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids475 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score4/5
Function
function
Mitochondrial aminoacyl-tRNA synthetase that catalyzes the specific attachment of the proline amino acid (aa) to the homologous transfer RNA (tRNA), further participating in protein synthesis. The reaction occurs in a two steps: proline is first activated by ATP to form Pro-AMP and then transferred to the acceptor end of tRNA(Pro).
Catalytic activity
- ATP + L-proline + tRNA(Pro) = AMP + diphosphate + L-prolyl-tRNA(Pro)
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | mitochondrial matrix | |
Cellular Component | mitochondrion | |
Molecular Function | ATP binding | |
Molecular Function | identical protein binding | |
Molecular Function | proline-tRNA ligase activity | |
Biological Process | prolyl-tRNA aminoacylation |
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameProbable proline--tRNA ligase, mitochondrial
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ7L3T8
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Developmental and epileptic encephalopathy 75 (DEE75)
- Note
- DescriptionA form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE75 is an autosomal recessive form characterized by onset of severe refractory seizures in the first months of life.
- See alsoMIM:618437
Natural variants in DEE75
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_082617 | 80 | I>T | in DEE75; uncertain significance; dbSNP:rs1246773873 | |
VAR_082149 | 95 | V>I | in DEE75; uncertain significance; dbSNP:rs147227819 | |
VAR_082618 | 202 | R>G | in DEE75; uncertain significance; dbSNP:rs141760650 | |
VAR_082619 | 203 | E>K | in DEE75; uncertain significance; dbSNP:rs1557762729 | |
VAR_082620 | 279 | S>L | in DEE75; uncertain significance; dbSNP:rs730882153 | |
VAR_082621 | 364 | P>R | in DEE75; uncertain significance; dbSNP:rs35201073 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_052644 | 28 | in dbSNP:rs11577368 | |||
Sequence: R → S | ||||||
Natural variant | VAR_082617 | 80 | in DEE75; uncertain significance; dbSNP:rs1246773873 | |||
Sequence: I → T | ||||||
Natural variant | VAR_082149 | 95 | in DEE75; uncertain significance; dbSNP:rs147227819 | |||
Sequence: V → I | ||||||
Natural variant | VAR_088479 | 103 | found in a patient with an aminoacyl-tRNA synthetase abnormality; uncertain significance | |||
Sequence: Missing | ||||||
Natural variant | VAR_082618 | 202 | in DEE75; uncertain significance; dbSNP:rs141760650 | |||
Sequence: R → G | ||||||
Natural variant | VAR_082619 | 203 | in DEE75; uncertain significance; dbSNP:rs1557762729 | |||
Sequence: E → K | ||||||
Natural variant | VAR_034527 | 235 | in dbSNP:rs2270004 | |||
Sequence: N → S | ||||||
Natural variant | VAR_082620 | 279 | in DEE75; uncertain significance; dbSNP:rs730882153 | |||
Sequence: S → L | ||||||
Natural variant | VAR_082621 | 364 | in DEE75; uncertain significance; dbSNP:rs35201073 | |||
Sequence: P → R |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 557 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for transit peptide, chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transit peptide | 1-29 | Mitochondrion | ||||
Sequence: MEGLLTRCRALPALATCSRQLSGYVPCRF | ||||||
Chain | PRO_0000035818 | 30-475 | Probable proline--tRNA ligase, mitochondrial | |||
Sequence: HHCAPRRGRRLLLSRVFQPQNLREDRVLSLQDKSDDLTCKSQRLMLQVGLIYPASPGCYHLLPYTVRAMEKLVRVIDQEMQAIGGQKVNMPSLSPAELWQATNRWDLMGKELLRLRDRHGKEYCLGPTHEEAITALIASQKKLSYKQLPFLLYQVTRKFRDEPRPRFGLLRGREFYMKDMYTFDSSPEAAQQTYSLVCDAYCSLFNKLGLPFVKVQADVGTIGGTVSHEFQLPVDIGEDRLAICPRCSFSANMETLDLSQMNCPACQGPLTKTKGIEVGHTFYLGTKYSSIFNAQFTNVCGKPTLAEMGCYGLGVTRILAAAIEVLSTEDCVRWPSLLAPYQACLIPPKKGSKEQAASELIGQLYDHITEAVPQLHGEVLLDDRTHLTIGNRLKDANKFGYPFVIIAGKRALEDPAHFEVWCQNTGEVAFLTKDGVMDLLTPVQTV |
Proteomic databases
PTM databases
Structure
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length475
- Mass (Da)53,263
- Last updated2004-07-05 v1
- ChecksumE3B1B07CB6225BA2
Sequence caution
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK025585 EMBL· GenBank· DDBJ | BAB15178.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK289679 EMBL· GenBank· DDBJ | BAF82368.1 EMBL· GenBank· DDBJ | mRNA | ||
AL139244 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471059 EMBL· GenBank· DDBJ | EAX06669.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC007956 EMBL· GenBank· DDBJ | AAH07956.2 EMBL· GenBank· DDBJ | mRNA | ||
BC011758 EMBL· GenBank· DDBJ | AAH11758.2 EMBL· GenBank· DDBJ | mRNA | ||
AL117473 EMBL· GenBank· DDBJ | CAB55948.1 EMBL· GenBank· DDBJ | mRNA |