• Gene id: 90355

Gene Summary

• Gene Symbol: MACIR   Gene   UCSC   Ensembl
• Aliases: C5orf30
• Gene name: macrophage immunometabolism regulator
• Alternate names: macrophage immunometabolism regulator, UNC119-binding protein C5orf30, UPF0684 protein C5orf30,
• Gene location: 5q21.1 (103258373: 103278659)     Exons: 9     NC_000005.10
• Gene summary(Entrez): This gene, MACIR (previously known as C5orf30), has been associated with rheumatoid arthritis, functioning as a negative regulator of tissue damage and modulating the activity of synovial fibroblasts and macrophages. The encoded protein is highly conserve
• OMIM: 616608

Protein Summary

• Protein general information: Q96GV9  
  • Name: Macrophage immunometabolism regulator
  • Length: 206  
  • Mass: 23083
  • Tissue specificity: High expression in normal macrophages, monocytes, and cultured rheumatoid arthritis synovial fibroblasts (RASFs), with lower expression in B- and T-cells, and little to no expression in other tissues and cell lines. {ECO
• Sequence:

  MEVDINGESRSTLTTLPFPGAEANSPGKAEAEKPRCSSTPCSPMRRTVSGYQILHMDSNYLVGFTTGEELLKLAQ
  KCTGGEESKAEAMPSLRSKQLDAGLARSSRLYKTRSRYYQPYEIPAVNGRRRRRMPSSGDKCTKSLPYEPYKALH
  GPLPLCLLKGKRAHSKSLDYLNLDKMIKEPADTEVLQYQLQHLTLRGDRVFARNNT

• Structural information:
  • Interpro: IPR029219  
  • STRING: ENSP00000326110
• Other Databases: GeneCards:  MACIR  Malacards:  MACIR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010764	negative regulation of fibroblast migration	IBA	biological process
GO:1900016	negative regulation of cytokine production involved in inflammatory response	IBA	biological process
GO:0035869	ciliary transition zone	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0060271	cilium assembly	ISS	biological process
GO:0050728	negative regulation of inflammatory response	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010764	negative regulation of fibroblast migration	IEA	biological process
GO:1900016	negative regulation of cytokine production involved in inflammatory response	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	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			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