Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55037
Gene name Gene Name - the full gene name approved by the HGNC.
Pentatricopeptide repeat domain 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PTCD3
Synonyms (NCBI Gene) Gene synonyms aliases
COXPD51, MRP-S39, mS39
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p11.2
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005269 hsa-miR-16-5p pSILAC 18668040
MIRT028845 hsa-miR-26b-5p Microarray 19088304
MIRT005269 hsa-miR-16-5p Proteomics;Other 18668040
MIRT047373 hsa-miR-34a-5p CLASH 23622248
MIRT044063 hsa-miR-361-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 19427859, 21516116, 24965446, 29892012, 31515488, 33961781
GO:0005654 Component Nucleoplasm IDA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614918 24717 ENSG00000132300
Protein
UniProt ID Q96EY7
Protein name Small ribosomal subunit protein mS39 (28S ribosomal protein S39, mitochondrial) (MRP-S39) (Pentatricopeptide repeat domain-containing protein 3, mitochondrial) (Transformation-related gene 15 protein) (TRG-15)
Protein function Mitochondrial RNA-binding protein that has a role in mitochondrial translation.
PDB 3J9M , 6NU2 , 6NU3 , 6RW4 , 6RW5 , 6VLZ , 6VMI , 6ZM5 , 6ZM6 , 6ZS9 , 6ZSA , 6ZSB , 6ZSC , 6ZSD , 6ZSE , 6ZSG , 7A5F , 7A5G , 7A5I , 7A5K , 7L08 , 7OG4 , 7P2E , 7PNX , 7PNY , 7PNZ , 7PO0 , 7PO1 , 7PO2 , 7PO3 , 7QI4 , 7QI5 , 7QI6 , 8ANY , 8CSP , 8CSQ , 8CSR , 8CSS , 8CST , 8CSU , 8K2A , 8OIR , 8OIS , 8QRK , 8QRL , 8QRM , 8QRN , 8RRI , 8XT0 , 8XT2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13041 PPR_2 254 303 PPR repeat family Repeat
PF13812 PPR_3 345 384 Pentatricopeptide repeat domain Repeat
Tissue specificity TISSUE SPECIFICITY: Abundant in testes, skeletal muscle and heart tissue. {ECO:0000269|PubMed:19427859}.
Sequence
MAVVSAVRWLGLRSRLGQPLTGRRAGLCEQARSCRFYSGSATLSKVEGTDVTGIEEVVIP
KKKTWDKVAVLQALASTVNRDTTAVPYVFQDDPYLMPASSLESRSFLLAKKSGENVAKFI
INSYPKYFQKDIAEPHIPCLMPEYFEPQIKDISEAALKERIELRKVKASVDMFDQLLQAG
TTVSLETTNSLLDLLCYYGDQEPSTDYHFQQTGQSEALEEENDETSRRKAGHQFGVTWRA
KNNAERIFSLMPEKNEHSYCTMIRGMVKHRAYEQALNLYTELLNNRLHADVYTFNALIEA
TVC
AINEKFEEKWSKILELLRHMVAQKVKPNLQTFNTILKCLRRFHVFARSPALQVLREM
KAIGIEPSLATYHHIIRLFDQPGD
PLKRSSFIIYDIMNELMGKRFSPKDPDDDKFFQSAM
SICSSLRDLELAYQVHGLLKTGDNWKFIGPDQHRNFYYSKFFDLICLMEQIDVTLKWYED
LIPSAYFPHSQTMIHLLQALDVANRLEVIPKIWKDSKEYGHTFRSDLREEILMLMARDKH
PPELQVAFADCAADIKSAYESQPIRQTAQDWPATSLNCIAILFLRAGRTQEAWKMLGLFR
KHNKIPRSELLNELMDSAKVSNSPSQAIEVVELASAFSLPICEGLTQRVMSDFAINQEQK
EALSNLTALTSDSDTDSSSDSDSDTSEGK
Sequence length 689
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Mitochondrial translation elongation
Mitochondrial translation termination
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Combined Oxidative Phosphorylation Deficiency combined oxidative phosphorylation deficiency 51 N/A N/A GenCC
Leigh Syndrome Leigh syndrome N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Glycogen Storage Disease Type IV Associate 19427859
Leigh Disease Associate 36450274