Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26024
Gene name Gene Name - the full gene name approved by the HGNC.
Pentatricopeptide repeat domain 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PTCD1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a mitochondrial protein that binds leucine tRNAs and other mitochondrial RNAs and plays a role in the regulation of translation. Increased expression of this gene results in decreased mitochondrial leucine tRNA levels. Naturally occurrin
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT032324 hsa-let-7b-5p Proteomics 18668040
MIRT041066 hsa-miR-505-3p CLASH 23622248
MIRT035774 hsa-miR-1914-3p CLASH 23622248
MIRT715464 hsa-miR-370-3p HITS-CLIP 19536157
MIRT715463 hsa-miR-6893-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IBA 21873635
GO:0000049 Function TRNA binding IDA 19651879
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 32296183
GO:0005739 Component Mitochondrion IDA 19651879
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614774 22198 ENSG00000106246
Protein
UniProt ID O75127
Protein name Pentatricopeptide repeat-containing protein 1, mitochondrial
Protein function Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria-encoded proteins and COX activity. Also affects the 3'-processing of mitochondrial tRNAs. {ECO:0000269|PubMed:21857155
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01535 PPR 174 204 PPR repeat Family
PF01535 PPR 248 278 PPR repeat Family
Tissue specificity TISSUE SPECIFICITY: Abundant in testes, skeletal muscle and heart. {ECO:0000269|PubMed:19651879}.
Sequence
MDFVRLARLFARARPMGLFILQHLDPCRARWAGGREGLMRPMWAPFSSSSSQLPLGQERQ
ENTGSLGSDPSHSNSTATQEEDEEEEESFGTLSDKYSSRRLFRKSAAQFHNLRFGERRDE
QMEPEPKLWRGRRNTPYWYFLQCKHLIKEGKLVEALDLFERQMLKEERLQPMESNYTVLI
GGCGRVGYLKKAFNLYNQMKKRDL
EPSDATYTALFNVCAESPWKDSALQSALKLRQQLQA
KNFELNLKTYHALLKMAAKCADLRMCLDVFKEIIHKGHVVTEETFSFLLMGCIQDKKTGF
RYALQVWRLMLSLGLQPSRDSYNLLLVAARDCGLGDPQVASELLLKPREEATVLQPPVSR
QRPRRTAQAKAGNLMSAMLHVEALERQLFLEPSQALGPPEPPEARVPGKAQPEVDTKAEP
SHTAALTAVALKPPPVELEVNLLTPGAVPPTVVSFGTVTTPADRLALIGGLEGFLSKMAE
HRQQPDIRTLTLLAEVVESGSPAESLLLALLDEHQVEADLTFFNTLVRKKSKLGDLEGAK
ALLPVLAKRGLVPNLQTFCNLAIGCHRPKDGLQLLTDMKKSQVTPNTHIYSALINAAIRK
LNYTYLISILKDMKQNRVPVNEVVIRQLEFAAQYPPTFDRYQGKNTYLEKIDGFRAYYKQ
WLTVMPAEETPHPWQKFRTKPQGDQDTGKEADDGCALGGR
Sequence length 700
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 30948477, 31421943
Hemorrhage Associate 37889747
Mitochondrial Diseases Associate 25058219, 30948477
Thrombocytopenia Associate 37889747