• Gene id: 64114

Gene Summary

• Gene Symbol: TMBIM1   Gene   UCSC   Ensembl
• Aliases: LFG3, MST100, MSTP100, PP1201, RECS1
• Gene name: transmembrane BAX inhibitor motif containing 1
• Alternate names: protein lifeguard 3, transmembrane BAX inhibitor motif-containing protein 1,
• Gene location: 2q35 (218292576: 218274191)     Exons: 17     NC_000002.12
• OMIM: 616064

Protein Summary

• Protein general information: Q969X1  
  • Name: Protein lifeguard 3 (Protein RECS1 homolog) (Transmembrane BAX inhibitor motif containing protein 1)
  • Length: 311  
  • Mass: 34607
• Sequence:

  MSNPSAPPPYEDRNPLYPGPPPPGGYGQPSVLPGGYPAYPGYPQPGYGHPAGYPQPMPPTHPMPMNYGPGHGYDG
  EERAVSDSFGPGEWDDRKVRHTFIRKVYSIISVQLLITVAIIAIFTFVEPVSAFVRRNVAVYYVSYAVFVVTYLI
  LACCQGPRRRFPWNIILLTLFTFAMGFMTGTISSMYQTKAVIIAMIITAVVSISVTIFCFQTKVDFTSCTGLFCV
  LGIVLLVTGIVTSIVLYFQYVYWLHMLYAALGAICFTLFLAYDTQLVLGNRKHTISPEDYITGALQIYTDIIYIF
  TFVLQLMGDRN

• Structural information:
  • Interpro: IPR006214  
  • STRING: ENSP00000409738
• Other Databases: GeneCards:  TMBIM1  Malacards:  TMBIM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0010008	endosome membrane	IDA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
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:0005765	lysosomal membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005123	death receptor binding	IDA	molecular function
GO:1903077	negative regulation of protein localization to plasma membrane	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:2000504	positive regulation of blood vessel remodeling	ISS	biological process
GO:1902045	negative regulation of Fas signaling pathway	IMP	biological process
GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IMP	biological process
GO:0043086	negative regulation of catalytic activity	ISS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0010008	endosome membrane	IDA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
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:0005765	lysosomal membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005123	death receptor binding	IDA	molecular function
GO:1903077	negative regulation of protein localization to plasma membrane	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:2000504	positive regulation of blood vessel remodeling	ISS	biological process
GO:1902045	negative regulation of Fas signaling pathway	IMP	biological process
GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IMP	biological process
GO:0043086	negative regulation of catalytic activity	ISS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881