• Gene id: 115416

Gene Summary

• Gene Symbol: MALSU1   Gene   UCSC   Ensembl
• Aliases: C7orf30, mtRsfA
• Gene name: mitochondrial assembly of ribosomal large subunit 1
• Alternate names: mitochondrial assembly of ribosomal large subunit protein 1,
• Gene location: 7p15.3 (23298743: 23311728)     Exons: 5     NC_000007.14
• OMIM: 614624

Protein Summary

• Protein general information: Q96EH3  
  • Name: Mitochondrial assembly of ribosomal large subunit protein 1
  • Length: 234  
  • Mass: 26170
• Sequence:

  MGPGGRVARLLAPLMWRRAVSSVAGSAVGAEPGLRLLAVQRLPVGAAFCRACQTPNFVRGLHSEPGLEERAEGTV
  NEGRPESDAADHTGPKFDIDMMVSLLRQENARDICVIQVPPEMRYTDYFVIVSGTSTRHLHAMAFYVVKMYKHLK
  CKRDPHVKIEGKDTDDWLCVDFGSMVIHLMLPETREIYELEKLWTLRSYDDQLAQIAPETVPEDFILGIEDDTSS
  VTPVELKCE

• Structural information:
  • Interpro: IPR004394  
  • PDB: 5OOL 5OOM
  • PDBsum: 5OOL 5OOM
  • STRING: ENSP00000419370
• Other Databases: GeneCards:  MALSU1  Malacards:  MALSU1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017148	negative regulation of translation	IBA	biological process
GO:0090071	negative regulation of ribosome biogenesis	IBA	biological process
GO:0043023	ribosomal large subunit binding	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0005762	mitochondrial large ribosomal subunit	IDA	colocalizes with
GO:0070130	negative regulation of mitochondrial translation	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0042273	ribosomal large subunit biogenesis	IMP	biological process
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005739	mitochondrion	IDA	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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881