• Gene id: 55219

Gene Summary

• Gene Symbol: MACO1   Gene   UCSC   Ensembl
• Aliases: MACOILIN, TMEM57
• Gene name: macoilin 1
• Alternate names: macoilin, transmembrane protein 57,
• Gene location: 1p36.11 (130850594: 131016711)     Exons: 31     NC_000003.12
• OMIM: 610301

Protein Summary

• Protein general information: Q8N5G2  
  • Name: Macoilin (Macoilin 1) (Transmembrane protein 57)
  • Length: 664  
  • Mass: 76178
• Sequence:

  MKRRNADCSKLRRPLKRNRITEGIYGSTFLYLKFLVVWALVLLADFVLEFRFEYLWPFWLFIRSVYDSFRYQGLA
  FSVFFVCVAFTSNIICLLFIPIQWLFFAASTYVWVQYVWHTERGVCLPTVSLWILFVYIEAAIRFKDLKNFHVDL
  CRPFAAHCIGYPVVTLGFGFKSYVSYKMRLRKQKEVQKENEFYMQLLQQALPPEQQMLQKQEKEAEEAAKGLPDM
  DSSILIHHNGGIPANKKLSTTLPEIEYREKGKEKDKDAKKHNLGINNNNILQPVDSKIQEIEYMENHINSKRLNN
  DLVGSTENLLKEDSCTASSKNYKNASGVVNSSPRSHSATNGSIPSSSSKNEKKQKCTSKSPSTHKDLMENCIPNN
  QLSKPDALVRLEQDIKKLKADLQASRQVEQELRSQISSLSSTERGIRSEMGQLRQENELLQNKLHNAVQMKQKDK
  QNISQLEKKLKAEQEARSFVEKQLMEEKKRKKLEEATAARAVAFAAASRGECTETLRNRIRELEAEGKKLTMDMK
  VKEDQIRELELKVQELRKYKENEKDTEVLMSALSAMQDKTQHLENSLSAETRIKLDLFSALGDAKRQLEIAQGQI
  LQKDQEIKDLKQKIAEVMAVMPSITYSAATSPLSPVSPHYSSKFVETSPSGLDPNASVYQPLKK

• Structural information:
  • Interpro: IPR019130  
  • STRING: ENSP00000363463
• Other Databases: GeneCards:  MACO1  Malacards:  MACO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051015	actin filament binding	IBA	molecular function
GO:0023041	neuronal signal transduction	IBA	biological process
GO:0008017	microtubule binding	IBA	molecular function
GO:0031965	nuclear membrane	IBA	cellular component
GO:0030867	rough endoplasmic reticulum membrane	IBA	cellular component
GO:0006935	chemotaxis	IBA	biological process
GO:0030867	rough endoplasmic reticulum membrane	IDA	cellular component
GO:0023041	neuronal signal transduction	IMP	biological process
GO:0023041	neuronal signal transduction	IEA	biological process
GO:0030867	rough endoplasmic reticulum membrane	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	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: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:0030424	axon	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007420	brain development	IEA	biological process
GO:0031965	nuclear membrane	IEA	cellular component
GO:0044306	neuron projection terminus	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0031965	nuclear membrane	ISS	cellular component
GO:0044306	neuron projection terminus	ISS	cellular component
GO:0045202	synapse	ISS	cellular component
GO:0030867	rough endoplasmic reticulum membrane	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0030424	axon	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R