• Gene id: 64788

Gene Summary

• Gene Symbol: LMF1   Gene   UCSC   Ensembl
• Aliases: C16orf26, HMFN1876, JFP11, TMEM112, TMEM112A
• Gene name: lipase maturation factor 1
• Alternate names: lipase maturation factor 1, transmembrane protein 112,
• Gene location: 16p13.3 (981612: 853633)     Exons: 15     NC_000016.10
• OMIM: 611901

Protein Summary

• Protein general information: Q96S06  
  • Name: Lipase maturation factor 1 (Transmembrane protein 112)
  • Length: 567  
  • Mass: 64873
• Sequence:

  MRPDSPTMAAPAESLRRRKTGYSDPEPESPPAPGRGPAGSPAHLHTGTFWLTRIVLLKALAFVYFVAFLVAFHQN
  KQLIGDRGLLPCRVFLKNFQQYFQDRTSWEVFSYMPTILWLMDWSDMNSNLDLLALLGLGISSFVLITGCANMLL
  MAALWGLYMSLVNVGHVWYSFGWESQLLETGFLGIFLCPLWTLSRLPQHTPTSRIVLWGFRWLIFRIMLGAGLIK
  IRGDRCWRDLTCMDFHYETQPMPNPVAYYLHHSPWWFHRFETLSNHFIELLVPFFLFLGRRACIIHGVLQILFQA
  VLIVSGNLSFLNWLTMVPSLACFDDATLGFLFPSGPGSLKDRVLQMQRDIRGARPEPRFGSVVRRAANVSLGVLL
  AWLSVPVVLNLLSSRQVMNTHFNSLHIVNTYGAFGSITKERAEVILQGTASSNASAPDAMWEDYEFKCKPGDPSR
  RPCLISPYHYRLDWLMWFAAFQTYEHNDWIIHLAGKLLASDAEALSLLAHNPFAGRPPPRWVRGEHYRYKFSRPG
  GRHAAEGKWWVRKRIGAYFPPLSLEELRPYFRDRGWPLPGPL

• Structural information:
  • Interpro: IPR009613  
  • STRING: ENSP00000262301
• Other Databases: GeneCards:  LMF1  Malacards:  LMF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051604	protein maturation	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0006641	triglyceride metabolic process	IMP	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0051004	regulation of lipoprotein lipase activity	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0051006	positive regulation of lipoprotein lipase activity	IEA	biological process
GO:0034382	chylomicron remnant clearance	IEA	biological process
GO:0033578	protein glycosylation in Golgi	IEA	biological process
GO:0009306	protein secretion	IEA	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IEA	biological process
GO:0090207	regulation of triglyceride metabolic process	IEA	biological process
GO:0090181	regulation of cholesterol metabolic process	IEA	biological process
GO:0051604	protein maturation	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component

Diseases

Associated diseases	References
Primary hyperchylomicronemia	KEGG:H01784
Combined lipase deficiency	KEGG:H01101
Primary hyperchylomicronemia	KEGG:H01784
Combined lipase deficiency	KEGG:H01101
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray