Aliases for MT-TP Gene

Data sources for MT-TP Gene:

RNA type for MT-TP Gene

tRNA

Aliases for MT-TP Gene

External Ids for MT-TP Gene

Previous HGNC Symbols for MT-TP Gene

  • MTTP

Previous GeneCards Identifiers for MT-TP Gene

  • GC00U921609

Summaries for MT-TP Gene

GeneCards Summary for MT-TP Gene

MT-TP (Mitochondrially Encoded TRNA-Pro (CCN)) is an RNA Gene, and is affiliated with the tRNA class. Diseases associated with MT-TP include Myoclonic Epilepsy Associated With Ragged-Red Fibers and Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes. Among its related pathways are tRNA Aminoacylation.

Rfam classification for MT-TP Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary and piRNA Summary for MT-TP Gene

Genomics for MT-TP Gene

Genomic Locations for MT-TP Gene

Latest Assembly
chrMT:15,954-16,024
(GRCh38/hg38)
Size:
71 bases
Orientation:
Minus strand

Previous Assembly
chrMT:15,956-16,023
(GRCh37/hg19 by Ensembl)
Size:
68 bases
Orientation:
Minus strand

Genomic View for MT-TP Gene

Genes around MT-TP on UCSC Golden Path with GeneCards custom track
MT-TP in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-TP Gene

No data available for GeneHancer (GH) Regulatory Elements for MT-TP Gene

Proteins for MT-TP Gene

Post-translational modifications for MT-TP Gene

No Post-translational modifications

No data available for DME Specific Peptides for MT-TP Gene

Domains & Families for MT-TP Gene

Gene Families for MT-TP Gene

genes like me logo Genes that share domains with MT-TP: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MT-TP Gene

Function for MT-TP Gene

Human Phenotype Ontology for MT-TP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

CRISPR products for research

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , Transcription Factor Targets and HOMER Transcription for MT-TP Gene

Localization for MT-TP Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for MT-TP Gene

Pathways & Interactions for MT-TP Gene

PathCards logo

SuperPathways for MT-TP Gene

SuperPathway Contained pathways
1 tRNA Aminoacylation
genes like me logo Genes that share pathways with MT-TP: view

Pathways by source for MT-TP Gene

1 KEGG pathway for MT-TP Gene

Gene Ontology (GO) - Biological Process for MT-TP Gene

None

No data available for Interacting Proteins and SIGNOR curated interactions for MT-TP Gene

Drugs & Compounds for MT-TP Gene

No Compound Related Data Available

Transcripts for MT-TP Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for MT-TP Gene

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS000002176F_9606 tRNA 68 2

Ensembl: ENST00000387461 (view in UCSC) ,

ENA: View 5765 records in RNAcentral

URS0000126C45_9606 tRNA 70 1

ENA: AM263182.1:15956..16025:tRNA, DQ437577.1:15956..16025:tRNA, DQ519035.1:15956..16025:tRNA,

URS0000500DB7_9606 tRNA 70 1

ENA: EU935460.1:15952..16021:tRNA, EU935465.1:15952..16021:tRNA, EU935466.1:15952..16021:tRNA,

URS0000003B66_9606 tRNA 69 1

ENA: AP008660.1:15957..16025:tRNA, DQ826448.1:15953..16021:tRNA,

URS000000920F_9606 tRNA 69 1

ENA: View 61 records in RNAcentral

MT-TP in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Alternative Splicing Database (ASD) splice patterns (SP) for MT-TP Gene

No ASD Table

Relevant External Links for MT-TP Gene

GeneLoc Exon Structure for
MT-TP

No data available for mRNA/cDNA for MT-TP Gene

Expression for MT-TP Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-TP Gene

Orthologs for MT-TP Gene

Evolution for MT-TP Gene

ENSEMBL:
Gene Tree for MT-TP (if available)
TreeFam:
Gene Tree for MT-TP (if available)
Alliance of Genome Resources:
Additional Orthologs for MT-TP

No data available for Orthologs for MT-TP Gene

Paralogs for MT-TP Gene

No data available for Paralogs for MT-TP Gene

Variants for MT-TP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MT-TP Gene

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
870596 Pathogenic: Mitochondrial diseases 15,958(-) A/T
NC_012920.1:m.15958A>T
rs1556424716 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 15,977(-) C/T
NC_012920.1(MT-CYB):m.15977C>T
rs1556424718 Likely Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 15,992(-) A/T
NC_012920.1(MT-CYB):m.15992A>T
rs1603225617 Benign: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 15,968(-) T/C
NC_012920.1(MT-CYB):m.15968T>C
rs1603225620 Uncertain Significance: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 15,976(-) T/C
NC_012920.1(MT-CYB):m.15976T>C

Additional Variant Information for MT-TP Gene

Human Gene Mutation Database (HGMD)
MT-TP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MT-TP
Leiden Open Variation Database (LOVD)
MT-TP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , dbSNP identifiers (rs#s) for variants without ClinVar clinical significance , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MT-TP Gene

Disorders for MT-TP Gene

MalaCards: The human disease database

(7) MalaCards diseases for MT-TP Gene - From: CVR, GTR, ORP, and GCD

Additional Disease Information for MT-TP

Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MT-TP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MT-TP Gene

Publications for MT-TP Gene

  1. Interpretation of mitochondrial tRNA variants. (PMID: 31965079) Wong LC … Craigen WJ (Genetics in medicine : official journal of the American College of Medical Genetics 2020) 72
  2. A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers. (PMID: 27816331) Morel G … Paquis-Flucklinger V (Neuromuscular disorders : NMD 2016) 72
  3. Mitochondrial polymorphisms are associated both with increased and decreased longevity. (PMID: 19077432) Castri L … Madrigal L (Human heredity 2009) 3
  4. A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features. (PMID: 19273760) Blakely EL … Taylor RW (Archives of neurology 2009) 72
  5. MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease. (PMID: 19758471) Bhardwaj A … Tiwari S (BMC bioinformatics 2009) 3

Products for MT-TP Gene

Sources for MT-TP Gene