MRPL39

Protein identityUniProt · HPA

UniProt accession

Q9NYK5

Gene

MRPL39

Ensembl

ENSG00000154719

Chromosome

21

Canonical length

338 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. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

338 residues, UniProt reviewed canonical sequence.

>Q9NYK5|MRPL39
     1  MEALAMGSRA LRLWLVAPGG GIKWRFIATS SASQLSPTEL TEMRNDLFNK EKARQLSLTP
    61  RTEKIEVKHV GKTDPGTVFV MNKNISTPYS CAMHLSEWYC RKSILALVDG QPWDMYKPLT
   121  KSCEIKFLTF KDCDPGEVNK AYWRSCAMMM GCVIERAFKD EYMVNLVRAP EVPVISGAFC
   181  YDVVLDSKLD EWMPTKENLR SFTKDAHALI YKDLPFETLE VEAKVALEIF QHSKYKVDFI
   241  EEKASQNPER IVKLHRIGDF IDVSEGPLIP RTSICFQYEV SAVHNLQPTQ PSLIRRFQGV
   301  SLPVHLRAHF TIWDKLLERS RKMVTEDQSK ATEECTST

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MRPL39 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)

0.32

Highest tissue expression

67 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MRPL39.

Disease | AllUniProt

Conditions MRPL39 is implicated in, by any mechanism.

• Combined oxidative phosphorylation deficiency 59 (COXPD59) MIM:620646

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 76 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial disease
• Combined oxidative phosphorylation deficiency 59
• Leigh syndrome

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)

0.9

gnomAD pLI

0

gnomAD missense Z

-0.37

DepMap mean gene effect

-0.49

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

Molecular functions

• nucleotide binding
• RNA binding

Cellular components

• mitochondrial inner membrane
• mitochondrial large ribosomal subunit
• mitochondrial ribosome
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• TGS
• Beta-grasp domain superfamily
• TGS-like
• Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain superfamily
• Proline-tRNA synthetase

KeywordsUniProt

• Acetylation
• Leigh syndrome
• Mitochondrion
• Primary mitochondrial disease
• Ribonucleoprotein
• Ribosomal protein

InteractionsUniProt · HPA

Protein binding partners of MRPL39 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NPM1