MRPS27
protein-codingmitochondrial ribosomal protein S27, the group of Small subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins|Pentatricopeptide repeat containing
Gene summary
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that may be a functional partner of the death associated protein 3 (DAP3). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~106.8 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to MRPS27 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_015084.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 1 | 3 | |||
| missense | 65 | 5 | 2 | 72 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 68 | 5 | 3 | 76 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_055899.2 | 11 | MANE Select | |
| Ensembl | ENSP00000261413.5 | 11 | MANE Select | |
| RefSeq | NP_001273677.1 | 12 | Standard | |
| RefSeq | NP_001273680.1 | 9 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Mitochondrial translation initiation
- Translation
- Metabolism of proteins
- Mitochondrial translation elongation
- Mitochondrial translation termination
Biological Process
- cell population proliferation
- mitochondrial translational elongation
- mitochondrial translational termination
- positive regulation of mitochondrial translation
Molecular Function
- tRNA binding
- protein binding
- rRNA binding
- mitochondrial ribosome binding
Cellular Component
- cytoplasm
- mitochondrion
- mitochondrial inner membrane
- mitochondrial small ribosomal subunit
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000261413
- Coding exons
- 11
- Length
- 101238
- Individuals with no LoFs
- 125716
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 32
- Defined
- 125748
- p
- 0.000127
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.0231 | 207 | 208 | 0.995 | 0.00000985 | 2684 |
| Missense (PolyPhen) | 70 | 78.175 | 0.89543 | 1017 | ||
| Synonymous | -1.30 | 91 | 76.6 | 1.19 | 0.00000343 | 766 |
| Loss of Function | 2.04 | 13 | 23.8 | 0.547 | 0.00000117 | 292 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.000058 | 0.000058 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000054 | 0.000054 | rare |
| Finnish | 0.000093 | 0.000092 | rare |
| European (Non-Finnish) | 0.00019 | 0.00019 | rare |
| South Asian | 0.00013 | 0.00013 | rare |
| Other | 0.00017 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: RNA-binding component of the mitochondrial small ribosomal subunit (mt-SSU) that plays a role in mitochondrial protein synthesis (PubMed:22841715). Stimulates mitochondrial mRNA translation of subunit components of the mitochondrial electron transport chain (PubMed:22841715). Binds to the mitochondrial 12S rRNA (12S mt-rRNA) and tRNA(Glu) (PubMed:22841715). Involved also in positive regulation of cell proliferation and tumor cell growth (PubMed:28714366). {ECO:0000269|PubMed:22841715, ECO:0000269|PubMed:28714366}.;
Recessive Scores
- pRec
- 0.0835
Intolerance Scores
- LoFtool
- 0.669
- RVIS EVS
- 0.49
- RVIS percentile EVS
- 79.38
Essentials
- Essential (CRISPR)
- E
- Essential (CRISPR2)
- E
- Essential (gene trap)
- E
- Indispensability pred.
- E
- Indispensability score
- 0.962
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |