• Gene id: 23209

Gene Summary

• Gene Symbol: MLC1   Gene   UCSC   Ensembl
• Aliases: LVM, MLC, VL
• Gene name: modulator of VRAC current 1
• Alternate names: membrane protein MLC1, megalencephalic leukoencephalopathy with subcortical cysts 1,
• Gene location: 22q13.33 (50085874: 50059390)     Exons: 15     NC_000022.11
• Gene summary(Entrez): The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an aut
• OMIM: 605908

Protein Summary

• Protein general information: Q15049  
  • Name: Membrane protein MLC1
  • Length: 377  
  • Mass: 41141
  • Tissue specificity: Expressed in the brain, with highest levels found in the amygdala, nucleus caudatus, thalamus and hippocampus. {ECO
• Sequence:

  MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSLYLGNV
  FPAEMDYLRCAAGSCIPSAIVSFTVSRRNANVIPNFQILFVSTFAVTTTCLIWFGCKLVLNPSAININFNLILLL
  LLELLMAATVIIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAVLGGIIALNVDDSVSG
  PHLSVTFFWILVACFPSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPS
  YDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLQGASWDTQNGPQERLAGEVARSPLKEFDKEKAWRAVVVQM
  AQ

• Structural information:
  • Interpro: IPR033280  
  • STRING: ENSP00000310375
• Other Databases: GeneCards:  MLC1  Malacards:  MLC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047484	regulation of response to osmotic stress	IBA	biological process
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0047484	regulation of response to osmotic stress	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0072584	caveolin-mediated endocytosis	IEA	biological process
GO:0055037	recycling endosome	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0005901	caveola	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005911	cell-cell junction	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0071397	cellular response to cholesterol	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0097450	astrocyte end-foot	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0032388	positive regulation of intracellular transport	IDA	biological process
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0072584	caveolin-mediated endocytosis	ISS	biological process
GO:0055037	recycling endosome	ISS	cellular component
GO:0042802	identical 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:0045121	membrane raft	ISS	cellular component
GO:0016192	vesicle-mediated transport	ISS	biological process
GO:0005901	caveola	ISS	cellular component
GO:0005764	lysosome	ISS	cellular component
GO:0071397	cellular response to cholesterol	ISS	biological process
GO:0030136	clathrin-coated vesicle	ISS	NOT|cellular component
GO:0005769	early endosome	ISS	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

Diseases

Associated diseases	References
Megaloencephalic leukoencephalopathy with subcortical cysts	KEGG:H00875
Megaloencephalic leukoencephalopathy with subcortical cysts	KEGG:H00875
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq