• Gene id: 740

Gene Summary

• Gene Symbol: MRPL49   Gene   UCSC   Ensembl
• Aliases: C11orf4, L49mt, MRP-L49, NOF, NOF1
• Gene name: mitochondrial ribosomal protein L49
• Alternate names: 39S ribosomal protein L49, mitochondrial, mitochondrial large ribosomal subunit protein mL49, neighbor of FAU, next to FAU,
• Gene location: 11q13.1 (65122182: 65127370)     Exons: 4     NC_000011.10
• 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: 606866

SNPs

rs3212293

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000024.10   g.13479612C>G
NC_000024.10   g.13479612C>T
NC_000024.9   g.15591492C>G
NC_000024.9   g.15591492C>T
NM_007125.4   c.54G>C
NM_007125.4   c.54G>A
XM_006724875.4   c.54G>C
XM_006724875.4   c.54G>A
XM_005262518.4   c.54G>C
XM_005262518.4   c.54G>A
XM_005262518  

Protein Summary

• Protein general information: Q13405  
  • Name: 39S ribosomal protein L49, mitochondrial (L49mt) (MRP L49) (Mitochondrial large ribosomal subunit protein mL49) (Neighbor of FAU) (NOF) (Protein NOF1)
  • Length: 166  
  • Mass: 19198
  • Tissue specificity: Ubiquitous.
• Sequence:

  MAATMFRATLRGWRTGVQRGCGLRLLSQTQGPPDYPRFVESVDEYQFVERLLPATRIPDPPKHEHYPTPSGWQPP
  RDPPPNLPYFVRRSRMHNIPVYKDITHGNRQMTVIRKVEGDIWALQKDVEDFLSPLLGKTPVTQVNEVTGTLRIK
  GYFDQELKAWLLEKGF

• Structural information:
  • Interpro: IPR007740  
  • PDB: 3J7Y 3J9M 5OOL 5OOM 6NU2 6NU3
  • PDBsum: 3J7Y 3J9M 5OOL 5OOM 6NU2 6NU3
  • STRING: ENSP00000279242
• Other Databases: GeneCards:  MRPL49  Malacards:  MRPL49

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005762	mitochondrial large ribosomal subunit	IBA	cellular component
GO:0003735	structural constituent of ribosome	IBA	molecular function
GO:0005761	mitochondrial ribosome	IDA	cellular component
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:0005515	protein binding	IPI	molecular function
GO:0005840	ribosome	IEA	cellular component
GO:0006412	translation	IEA	biological process
GO:0003735	structural constituent of ribosome	IEA	molecular function
GO:0005840	ribosome	IEA	cellular component
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:0005739	mitochondrion	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881