MRPL44

Protein identityUniProt · HPA

UniProt accession

Q9H9J2

Gene

MRPL44

Ensembl

ENSG00000135900

Chromosome

2

Canonical length

332 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Ribosomal proteins

Subcellular location

Nucleoplasm,Nuclear bodies,Plasma membrane,Mitochondria

Quaternary structure

Homodimer

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. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

332 residues, UniProt reviewed canonical sequence.

>Q9H9J2|MRPL44
     1  MASGLVRLLQ QGHRCLLAPV APKLVPPVRG VKKGFRAAFR FQKELERQRL LRCPPPPVRR
    61  SEKPNWDYHA EIQAFGHRLQ ENFSLDLLKT AFVNSCYIKS EEAKRQQLGI EKEAVLLNLK
   121  SNQELSEQGT SFSQTCLTQF LEDEYPDMPT EGIKNLVDFL TGEEVVCHVA RNLAVEQLTL
   181  SEEFPVPPAV LQQTFFAVIG ALLQSSGPER TALFIRDFLI TQMTGKELFE MWKIINPMGL
   241  LVEELKKRNV SAPESRLTRQ SGGTTALPLY FVGLYCDKKL IAEGPGETVL VAEEEAARVA
   301  LRKLYGFTEN RRPWNYSKPK ETLRAEKSIT AS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MRPL44 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)

0.37

Highest tissue expression

43 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MRPL44.

Disease | AllUniProt

Conditions MRPL44 is implicated in, by any mechanism.

• Combined oxidative phosphorylation deficiency 16 (COXPD16) MIM:615395

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 170 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
• Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

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)

1.64

gnomAD pLI

0

gnomAD missense Z

0.08

DepMap mean gene effect

-0.37

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial translation
• mitochondrial translational elongation
• RNA processing

Molecular functions

• double-stranded RNA binding
• endonuclease activity
• hydrolase activity
• RNA binding

Cellular components

• mitochondrial inner membrane
• mitochondrial large ribosomal subunit
• mitochondrion
• nuclear body
• nucleoplasm
• nucleus
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Double-stranded RNA-binding domain
• Ribonuclease III, endonuclease domain superfamily
• Large ribosomal subunit protein mL44, dsRNA binding domain, metazoa
• Large ribosomal subunit protein mL44, endonuclease domain
• MRPL44 dsRNA-binding domain
• Large ribosomal subunit protein mL44, endonuclease domain

KeywordsUniProt

• Mitochondrion
• Primary mitochondrial disease
• Ribonucleoprotein
• Ribosomal protein
• RNA-binding
• Transit peptide
• Translation regulation

InteractionsUniProt · HPA

Protein binding partners of MRPL44 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• IMMT
• MRPL13
• MRPL18
• MRPL21
• MRPL23
• MRPL27
• MRPL28
• MRPL37
• MRPL42
• MRPL50
• MRPL51
• NPM1
• SETDB1
• VIM