• Gene id: 65080

Gene Summary

• Gene Symbol: MRPL44   Gene   UCSC   Ensembl
• Aliases: COXPD16, L44MT, MRP-L44
• Gene name: mitochondrial ribosomal protein L44
• Alternate names: 39S ribosomal protein L44, mitochondrial, mitochondrial large ribosomal subunit protein mL44,
• Gene location: 2q36.1 (223950845: 223967713)     Exons: 5     NC_000002.12
• Gene summary(Entrez): 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% prot
• OMIM: 600297

Protein Summary

• Protein general information: Q9H9J2  
  • Name: 39S ribosomal protein L44, mitochondrial (L44mt) (MRP L44) (EC 3.1.26. ) (Mitochondrial large ribosomal subunit protein mL44)
  • Length: 332  
  • Mass: 37535
• Sequence:

  MASGLVRLLQQGHRCLLAPVAPKLVPPVRGVKKGFRAAFRFQKELERQRLLRCPPPPVRRSEKPNWDYHAEIQAF
  GHRLQENFSLDLLKTAFVNSCYIKSEEAKRQQLGIEKEAVLLNLKSNQELSEQGTSFSQTCLTQFLEDEYPDMPT
  EGIKNLVDFLTGEEVVCHVARNLAVEQLTLSEEFPVPPAVLQQTFFAVIGALLQSSGPERTALFIRDFLITQMTG
  KELFEMWKIINPMGLLVEELKKRNVSAPESRLTRQSGGTTALPLYFVGLYCDKKLIAEGPGETVLVAEEEAARVA
  LRKLYGFTENRRPWNYSKPKETLRAEKSITAS

• Structural information:
  • Protein Domains: (86..22-)
    (/note="RNase-III)
    (236..30-)
    (/note="DRBM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00266"-)
  • Interpro: IPR014720  IPR036389  
  • Prosite: PS50137
  • PDB: 3J7Y 3J9M 5OOL 5OOM 6NU2 6NU3
  • PDBsum: 3J7Y 3J9M 5OOL 5OOM 6NU2 6NU3
  • STRING: ENSP00000258383
• Other Databases: GeneCards:  MRPL44  Malacards:  MRPL44

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031054	pre-miRNA processing	IBA	biological process
GO:0031053	primary miRNA processing	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003725	double-stranded RNA binding	IBA	molecular function
GO:0030422	production of siRNA involved in RNA interference	IBA	biological process
GO:0006396	RNA processing	IBA	biological process
GO:0004525	ribonuclease III activity	IBA	molecular function
GO:0005762	mitochondrial large ribosomal subunit	IDA	cellular component
GO:0005762	mitochondrial large ribosomal subunit	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0070125	mitochondrial translational elongation	IMP	biological process
GO:0004525	ribonuclease III activity	IEA	molecular function
GO:0006396	RNA processing	IEA	biological process
GO:0004519	endonuclease activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0005840	ribosome	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0070125	mitochondrial translational elongation	TAS	biological process
GO:0070126	mitochondrial translational termination	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090501	RNA phosphodiester bond hydrolysis	IEA	biological process
GO:0090501	RNA phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Combined oxidative phosphorylation deficiency	KEGG:H00891
Combined oxidative phosphorylation deficiency	KEGG:H00891
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray