MRPL12
Large ribosomal subunit protein bL12m
Also known as: MRPL7, MRPL7/L12, RM12_HUMAN, RPML12
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P52815
- Gene
- MRPL12
- Ensembl
- ENSG00000262814
- Chromosome
- 17
- Canonical length
- 198 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Ribosomal proteins
- Subcellular location
- Mitochondria
OverviewNCBI Gene
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 39S subunit protein which forms homodimers. In prokaryotic ribosomes, two L7/L12 dimers and one L10 protein form the L8 protein complex. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
198 residues, UniProt reviewed canonical sequence.
>P52815|MRPL12
1 MLPAAARPLW GPCLGLRAAA FRLARRQVPC VCAVRHMRSS GHQRCEALAG APLDNAPKEY
61 PPKIQQLVQD IASLTLLEIS DLNELLKKTL KIQDVGLVPM GGVMSGAVPA AAAQEAVEED
121 IPIAKERTHF TVRLTEAKPV DKVKLIKEIK NYIQGINLVQ AKKLVESLPQ EIKANVAKAE
181 AEKIKAALEA VGGTVVLELocalizationUniProt · AlphaFold · HPA
Whether an antibody against MRPL12 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.55
- Highest tissue expression
- 203 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 203 nTPM
- liver: 185 nTPM
- skeletal muscle: 168 nTPM
- tongue: 138 nTPM
- kidney: 97 nTPM
- esophagus: 96 nTPM
Single-cell type
- parietal cells: 71 nCPM
- gastric chief cells: 33 nCPM
- enteric transient amplifying cells: 18 nCPM
- foveolar cells: 15 nCPM
- colonocytes: 13 nCPM
- enteric stem cells: 12 nCPM
Immune cell
- myeloid DC: 94 nTPM
- intermediate monocyte: 85 nTPM
- plasmacytoid DC: 77 nTPM
- memory B-cell: 67 nTPM
- classical monocyte: 63 nTPM
- naive B-cell: 62 nTPM
Brain region
- choroid plexus: 65 nTPM
- cerebellum: 57 nTPM
- thalamus: 56 nTPM
- midbrain: 51 nTPM
- hypothalamus: 48 nTPM
- pons: 45 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MRPL12.
Disease | AllUniProt
Conditions MRPL12 is implicated in, by any mechanism.
- Combined oxidative phosphorylation deficiency 45 (COXPD45) MIM:618951
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 126 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Combined oxidative phosphorylation deficiency 45
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.2
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.28
- DepMap mean gene effect
- -0.44
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- mitochondrial transcription
- mitochondrial translation
- positive regulation of DNA-templated transcription
- translation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Ribosomal protein bL12, C-terminal/adaptor protein ClpS-like
- Large ribosomal subunit protein bL12
- Large ribosomal subunit protein bL12, oligomerization
- Large ribosomal subunit protein bL12, C-terminal
- Large ribosomal subunit protein bL12, oligomerization domain superfamily
- Ribosomal protein L7/L12 C-terminal domain
- Ribosomal protein L7/L12 dimerisation domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MRPL12 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MRPL12 as an antibody target. Whether an autoantibody or antibody against MRPL12 could matter depends on whether native MRPL12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MRPL12 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MRPL12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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