Gene Gene information from NCBI Gene database.
Entrez ID 26024
Gene name Pentatricopeptide repeat domain 1
Gene symbol PTCD1
Synonyms (NCBI Gene)
-
Chromosome 7
Chromosome location 7q22.1
Summary 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.
525
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IBA
GO:0000049 Function TRNA binding IDA 19651879
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 32296183, 35156780, 36012204
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614774 22198 ENSG00000106246
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Kabuki syndrome 1 Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alzheimer Disease Associate 30948477, 31421943
★☆☆☆☆
Found in Text Mining only
Hemorrhage Associate 37889747
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Associate 25058219, 30948477
★☆☆☆☆
Found in Text Mining only
Thrombocytopenia Associate 37889747
★☆☆☆☆
Found in Text Mining only