• Gene id: 84315

Gene Summary

• Gene Symbol: MON1A   Gene   UCSC   Ensembl
• Aliases: SAND1
• Gene name: MON1 homolog A, secretory trafficking associated
• Alternate names: vacuolar fusion protein MON1 homolog A, MON1 secretory trafficking family member A,
• Gene location: 3p21.31 (49930011: 49908868)     Exons: 8     NC_000003.12
• OMIM: 611707

Protein Summary

• Protein general information: Q86VX9  
  • Name: Vacuolar fusion protein MON1 homolog A
  • Length: 652  
  • Mass: 72895
• Sequence:

  MHPGGGPSRAERLELGLGRERPAKAIFLHRRPGEGGGRERCLRCGHVCVRRGPGPREAVPSGRPRPDTLTPPWVR
  QRAVTGTFCASWTPLRNRRAQRMATDMQRKRSSECLDGTLTPSDGQSMERAESPTPGMAQGMEPGAGQEGAMFVH
  ARSYEDLTESEDGAASGDSHKEGTRGPPPLPTDMRQISQDFSELSTQLTGVARDLQEEMLPGSSEDWLEPPGAVG
  RPATEPPREGTTEGDEEDATEAWRLHQKHVFVLSEAGKPVYSRYGSEEALSSTMGVMVALVSFLEADKNAIRSIH
  ADGYKVVFVRRSPLVLVAVARTRQSAQELAQELLYIYYQILSLLTGAQLSHIFQQKQNYDLRRLLSGSERITDNL
  LQLMARDPSFLMGAARCLPLAAAVRDTVSASLQQARARSLVFSILLARNQLVALVRRKDQFLHPIDLHLLFNLIS
  SSSSFREGEAWTPVCLPKFNAAGFFHAHISYLEPDTDLCLLLVSTDREDFFAVSDCRRRFQERLRKRGAHLALRE
  ALRTPYYSVAQVGIPDLRHFLYKSKSSGLFTSPEIEAPYTSEEEQERLLGLYQYLHSRAHNASRPLKTIYYTGPN
  ENLLAWVTGAFELYMCYSPLGTKASAVSAIHKLMRWIRKEEDRLFILTPLTY

• Structural information:
  • Interpro: IPR004353  
  • STRING: ENSP00000296473
• Other Databases: GeneCards:  MON1A  Malacards:  MON1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009306	protein secretion	IBA	biological process
GO:0035658	Mon1-Ccz1 complex	IDA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006623	protein targeting to vacuole	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray