Seroatlas · Human Serome Atlas

MRPL48

Large ribosomal subunit protein mL48

Also known as: CGI-118, RM48_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q96GC5
Gene: MRPL48
Ensembl: ENSG00000175581
Chromosome: 11
Canonical length: 212 aa
Protein class: 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. A pseudogene corresponding to this gene is found on chromosome 6p. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]

Canonical amino-acid sequenceUniProt

212 residues, UniProt reviewed canonical sequence.

>Q96GC5|MRPL48
     1  MSGTLEKVLC LRNNTIFKQA FSLLRFRTSG EKPIYSVGGI LLSISRPYKT KPTHGIGKYK
    61  HLIKAEEPKK KKGKVEVRAI NLGTDYEYGV LNIHLTAYDM TLAESYAQYV HNLCNSLSIK
   121  VEESYAMPTK TIEVLQLQDQ GSKMLLDSVL TTHERVVQIS GLSATFAEIF LEIIQSSLPE
   181  GVRLSVKEHT EEDFKGRFKA RPELEELLAK LK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MRPL48 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): 0.49
Highest tissue expression: 44 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 44 nTPM
choroid plexus: 44 nTPM
midbrain: 31 nTPM
skeletal muscle: 27 nTPM
hippocampal formation: 27 nTPM
kidney: 26 nTPM

Single-cell type

cytotrophoblasts: 129 nCPM
gastric progenitor cells: 112 nCPM
migrating cytotrophoblasts: 101 nCPM
extravillous trophoblasts: 96 nCPM
esophageal basal cells: 94 nCPM
esophageal suprabasal cells: 92 nCPM

Immune cell

basophil: 41 nTPM
plasmacytoid DC: 38 nTPM
T-reg: 35 nTPM
myeloid DC: 34 nTPM
naive CD4 T-cell: 32 nTPM
memory CD8 T-cell: 32 nTPM

Brain region

white matter: 44 nTPM
pons: 35 nTPM
medulla oblongata: 32 nTPM
cerebellum: 29 nTPM
basal ganglia: 29 nTPM
midbrain: 26 nTPM

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): 0.87
gnomAD pLI: 0
gnomAD missense Z: 0.94
DepMap mean gene effect: -0.39
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 translation

Cellular components

Protein domainsUniProt · Pfam · InterPro

Small ribosomal subunit protein uS10 domain
Small ribosomal subunit protein uS10 domain superfamily
Ribosomal protein S10p/S20e
Large ribosomal subunit protein mL48

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MRPL48 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 MRPL48 as an antibody target. Whether an autoantibody or antibody against MRPL48 could matter depends on whether native MRPL48 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MRPL48 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 MRPL48 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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