Seroatlas · Human Serome Atlas

MRPL50

Large ribosomal subunit protein mL50

Also known as: FLJ20493, MRP-L50, RM50_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8N5N7
Gene: MRPL50
Ensembl: ENSG00000136897
Chromosome: 9
Canonical length: 158 aa
Protein class: Predicted intracellular proteins, Ribosomal proteins
Subcellular location: Mitochondria,Cytosol

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 putative 39S subunit protein and belongs to the L47P ribosomal protein family. Pseudogenes corresponding to this gene are found on chromosomes 2p, 2q, 5p, and 10q. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

158 residues, UniProt reviewed canonical sequence.

>Q8N5N7|MRPL50
     1  MAARSVSGIT RRVFMWTVSG TPCREFWSRF RKEKEPVVVE TVEEKKEPIL VCPPLRSRAY
    61  TPPEDLQSRL ESYVKEVFGS SLPSNWQDIS LEDSRLKFNL LAHLADDLGH VVPNSRLHQM
   121  CRVRDVLDFY NVPIQDRSKF DELSASNLPP NLKITWSY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MRPL50 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): 0.51
Highest tissue expression: 18 nTPM

Expression across tissuesHPA

Tissue

retina: 18 nTPM
adrenal gland: 15 nTPM
tongue: 14 nTPM
heart muscle: 14 nTPM
liver: 13 nTPM
kidney: 12 nTPM

Single-cell type

parietal cells: 210 nCPM
gastric progenitor cells: 182 nCPM
esophageal basal cells: 98 nCPM
decidual stromal cells: 98 nCPM
epididymal principal cells: 95 nCPM
migrating cytotrophoblasts: 94 nCPM

Immune cell

T-reg: 23 nTPM
naive CD4 T-cell: 22 nTPM
memory B-cell: 21 nTPM
naive CD8 T-cell: 20 nTPM
naive B-cell: 20 nTPM
memory CD4 T-cell: 19 nTPM

Brain region

cerebellum: 24 nTPM
cerebral cortex: 17 nTPM
basal ganglia: 16 nTPM
white matter: 15 nTPM
hypothalamus: 15 nTPM
midbrain: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MRPL50.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 32 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

See cases

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): 1.65
gnomAD pLI: 0
gnomAD missense Z: -0.73
DepMap mean gene effect: -0.38
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

mitochondrial translation

Cellular components

Protein domainsUniProt · Pfam · InterPro

Large ribosomal subunit protein mL50
Ribosomal subunit 39S

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MRPL50 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 MRPL50 as an antibody target. Whether an autoantibody or antibody against MRPL50 could matter depends on whether native MRPL50 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MRPL50 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 MRPL50 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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