Gene
MRPL3
mitochondrial ribosomal protein L3
- HGNC 10379↗(opens in a new tab)
- Ensembl gene ENSG00000114686↗(opens in a new tab)
- NCBI Gene 11222↗(opens in a new tab)
Summary
- Cytogenetic location
- 3q22.1
- Coordinates
- Chromosome 3: 131,462,212–131,502,971 (GRCh38)
- Exons
- 10 exons across 40.8 kb
- Protein
- 348 amino acids
- Also known as
- MRL3, uL3m
- Previous symbols
- RPML3
- MANE Select transcript
- ENST00000264995.8NM_007208.4
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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Primary Mitochondrial Disease
- Combined Oxidative Phosphorylation Deficiency
Disorders, usually caused by nuclear genes involved in mitochondrial protein production, that reduce several respiratory chain complexes at once and often cause severe multisystem disease in childhood.
- 2 GenCC submitters rate it definitive or strong
▶Actionability
Knowing can end a diagnostic search and guide surveillance and supportive care.
How MRPL3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.7 kb of the gene's 40.8 kb; 1,047 of those bases code for the protein.
Sequencing MRPL3
15Moderate
How hard MRPL3 is to sequence with short reads, out of 100
0 · Easy100 · Hard
Some of MRPL3's exons sit where short reads can miss or misplace a change.
What adds to it: the share of MRPL3's exons in each kind of hard region
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.5.2%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.39%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.0.4%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.14%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
A Dante Labs score from our own research, built on NIST's Genome in a Bottle maps of hard-to-sequence regions.How it's scoredEach bar is the share of MRPL3's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
Genes linked to the same conditions
- AARS2alanyl-tRNA synthetase 2, mitochondrialShares 1 condition
- AIFM1apoptosis inducing factor mitochondria associated 1Shares 1 condition
- ATP5F1AATP synthase F1 subunit alphaShares 1 condition
- ATP5F1DATP synthase F1 subunit deltaShares 1 condition
- ATP5F1EATP synthase F1 subunit epsilonShares 1 condition
- ATP5POATP synthase peripheral stalk subunit OSCPShares 1 condition
- C1QBPcomplement C1q binding proteinShares 1 condition
- C2orf69chromosome 2 open reading frame 69Shares 1 condition
- CARS2cysteinyl-tRNA synthetase 2, mitochondrialShares 1 condition
- CRLS1cardiolipin synthase 1Shares 1 condition
- EARS2glutamyl-tRNA synthetase 2, mitochondrialShares 1 condition
- ELAC2elaC ribonuclease Z 2Shares 1 condition
Traits linked to MRPL3
The Human Phenotype Ontology lists these as features of the rare conditions MRPL3 can cause. Each trait's page lists the other genes linked to it.
Laboratory abnormality
- Elevated lactate:pyruvate ratio
- Elevated serum anion gap
- Fatty infiltration of liver
- Higher than normal levels of lactate in blood
- Ketoacidosis
- Metabolic acidosis
- Elevated circulating alanine aminotransferase concentration
- Elevated circulating aspartate aminotransferase concentration
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). MRPL3 gene: mitochondrial ribosomal protein L3. Retrieved 18 October 2026, from https://dantelabs.com/genes/mrpl3
Dante Labs. MRPL3 gene: mitochondrial ribosomal protein L3 [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/mrpl3
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