• Gene id: 57128

Gene Summary

• Gene Symbol: LYRM4   Gene   UCSC   Ensembl
• Aliases: C6orf149, CGI-203, COXPD19, ISD11
• Gene name: LYR motif containing 4
• Alternate names: LYR motif-containing protein 4, homolog of yeast Isd11, mitochondrial matrix Nfs1 interacting protein,
• Gene location: 6p25.1 (5260949: 5031028)     Exons: 13     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene is found in both mitochondria and the nucleus, where it binds cysteine desulfurase and helps free inorganic sulfur for Fe/S clusters. Disruption of this gene negatively impacts mitochondrial and cytosolic iron homeostasis.
• OMIM: 613311

Protein Summary

• Protein general information: Q9HD34  
  • Name: LYR motif containing protein 4
  • Length: 91  
  • Mass: 10758
  • Tissue specificity: Reduced mRNA levels in Friedreich ataxia patients. {ECO
• Sequence:

  MAASSRAQVLSLYRAMLRESKRFSAYNYRTYAVRRIRDAFRENKNVKDPVEIQTLVNKAKRDLGVIRRQVHIGQL
  YSTDKLIIENRDMPRT

• Structural information:
  • Interpro: IPR008011  
  • PDB: 5USR 5WGB 5WKP 5WLW 6NZU 6ODD 6UXE
  • PDBsum: 5USR 5WGB 5WKP 5WLW 6NZU 6ODD 6UXE
  • STRING: ENSP00000420026
• Other Databases: GeneCards:  LYRM4  Malacards:  LYRM4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016226	iron-sulfur cluster assembly	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:1990221	L-cysteine desulfurase complex	IBA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0044281	small molecule metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016604	nuclear body	IDA	cellular component

Diseases

Associated diseases	References
Combined oxidative phosphorylation deficiency	KEGG:H00891
Combined oxidative phosphorylation deficiency	KEGG:H00891
Hypospermatogenesis	MIK: 28361989
Male factor infertility	MIK: 29961538
Spermatogenic defects	MIK: 31037746
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)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray