Human Gene PARS2 (ENST00000371279.4_6) from GENCODE V45lift37
Description: Homo sapiens prolyl-tRNA synthetase 2, mitochondrial (PARS2), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_152268) RefSeq Summary (NM_152268): This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015]. Gencode Transcript: ENST00000371279.4_6 Gencode Gene: ENSG00000162396.6_8 Transcript (Including UTRs) Position: hg19 chr1:55,222,571-55,230,196 Size: 7,626 Total Exon Count: 2 Strand: - Coding Region Position: hg19 chr1:55,223,407-55,224,834 Size: 1,428 Coding Exon Count: 1
ID:SYPM_HUMAN DESCRIPTION: RecName: Full=Probable proline--tRNA ligase, mitochondrial; EC=6.1.1.15 ; AltName: Full=Prolyl-tRNA synthetase; Short=ProRS ; AltName: Full=Prolyl-tRNA synthetase 2, mitochondrial; Flags: Precursor; 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: Reaction=ATP + L-proline + tRNA(Pro) = AMP + diphosphate + L-prolyl- tRNA(Pro); Xref=Rhea:RHEA:14305, Rhea:RHEA-COMP:9700, Rhea:RHEA- COMP:9702, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:60039, ChEBI:CHEBI:78442, ChEBI:CHEBI:78532, ChEBI:CHEBI:456215; EC=6.1.1.15; Evidence=; SUBCELLULAR LOCATION: Mitochondrion matrix DISEASE: Developmental and epileptic encephalopathy 75 (DEE75) [MIM:618437]: A 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. te=The disease may be caused by variants affecting the gene represented in this entry. SIMILARITY: Belongs to the class-II aminoacyl-tRNA synthetase family. SEQUENCE CAUTION: Sequence=BAB15178.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF03129 - Anticodon binding domain PF00587 - tRNA synthetase class II core domain (G, H, P, S and T)
ModBase Predicted Comparative 3D Structure on Q7L3T8
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Gene Ontology (GO) Annotations with Structured Vocabulary
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
