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MT-TP mitochondrially encoded tRNA proline [ Homo sapiens (human) ]

Gene ID: 4571, updated on 10-Oct-2023

Summary

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Official Symbol
MT-TPprovided by HGNC
Official Full Name
mitochondrially encoded tRNA prolineprovided by HGNC
Primary source
HGNC:HGNC:7494
See related
MIM:590075; AllianceGenome:HGNC:7494
Gene type
tRNA
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MTTP; TRNP
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Genomic context

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See MT-TP in Genome Data Viewer
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (15956..16023, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (15956..16023, complement)

Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene cytochrome b Neighboring gene tRNA-Thr

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Mitochondrial polymorphisms are associated both with increased and decreased longevity. Castri L, et al. Hum Hered, 2009. PMID 19077432, Free PMC Article
  2. MERRF. Adam MP, et al. , 1993. PMID 20301693
  3. Primary Mitochondrial Disorders Overview. Adam MP, et al. , 1993. PMID 20301403
  4. MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease. Bhardwaj A, et al. BMC Bioinformatics, 2009 Aug 27. PMID 19758471, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
MERRF syndrome
MedGen: C0162672 OMIM: 545000 GeneReviews: Primary Mitochondrial Disorders Overview, MERRF
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

  • NAR: 1597

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Other Literature Sources
Molecular Biology Databases
Research Materials
Miscellaneous