• Gene id: 57192

Gene Summary

• Gene Symbol: MCOLN1   Gene   UCSC   Ensembl
• Aliases: MG-2, ML1, ML4, MLIV, MST080, MSTP080, TRP-ML1, TRPM-L1, TRPML1
• Gene name: mucolipin 1
• Alternate names: mucolipin-1, mucolipidin, mucolipidosis type IV protein, transient receptor potential channel mucolipin 1,
• Gene location: 19p13.2 (7522623: 7534008)     Exons: 14     NC_000019.10
• Gene summary(Entrez): This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation
• OMIM: 617946

Protein Summary

• Protein general information: Q9GZU1  
  • Name: Mucolipin 1 (ML1) (MG 2) (Mucolipidin) (Transient receptor potential channel mucolipin 1) (TRPML1)
  • Length: 580  
  • Mass: 65022
  • Tissue specificity: Widely expressed in adult and fetal tissues. {ECO
• Sequence:

  MTAPAGPRGSETERLLTPNPGYGTQAGPSPAPPTPPEEEDLRRRLKYFFMSPCDKFRAKGRKPCKLMLQVVKILV
  VTVQLILFGLSNQLAVTFREENTIAFRHLFLLGYSDGADDTFAAYTREQLYQAIFHAVDQYLALPDVSLGRYAYV
  RGGGDPWTNGSGLALCQRYYHRGHVDPANDTFDIDPMVVTDCIQVDPPERPPPPPSDDLTLLESSSSYKNLTLKF
  HKLVNVTIHFRLKTINLQSLINNEIPDCYTFSVLITFDNKAHSGRIPISLETQAHIQECKHPSVFQHGDNSFRLL
  FDVVVILTCSLSFLLCARSLLRGFLLQNEFVGFMWRQRGRVISLWERLEFVNGWYILLVTSDVLTISGTIMKIGI
  EAKNLASYDVCSILLGTSTLLVWVGVIRYLTFFHNYNILIATLRVALPSVMRFCCCVAVIYLGYCFCGWIVLGPY
  HVKFRSLSMVSECLFSLINGDDMFVTFAAMQAQQGRSSLVWLFSQLYLYSFISLFIYMVLSLFIALITGAYDTIK
  HPGGAGAEESELQAYIAQCQDSPTSGKFRRGSGSACSLLCCCGRDPSEEHSLLVN

• Structural information:
  • Interpro: IPR039031  IPR013122  
  • PDB: 5TJA 5TJB 5TJC 5WJ5 5WJ9 6E7P 6E7Y 6E7Z
  • PDBsum: 5TJA 5TJB 5TJC 5WJ5 5WJ9 6E7P 6E7Y 6E7Z
  • DIP: 62090
  • STRING: ENSP00000264079
• Other Databases: GeneCards:  MCOLN1  Malacards:  MCOLN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0072345	NAADP-sensitive calcium-release channel activity	IBA	molecular function
GO:0051289	protein homotetramerization	IDA	biological process
GO:0005764	lysosome	IDA	cellular component
GO:0070588	calcium ion transmembrane transport	IDA	biological process
GO:0099604	ligand-gated calcium channel activity	IDA	molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0097682	intracellular phosphatidylinositol-3,5-bisphosphate-sensitive cation channel activity	ISS	molecular function
GO:0071277	cellular response to calcium ion	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0071467	cellular response to pH	ISS	biological process
GO:0005261	cation channel activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0043235	receptor complex	IDA	cellular component
GO:0005381	iron ion transmembrane transporter activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0070588	calcium ion transmembrane transport	TAS	biological process
GO:0033572	transferrin transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098655	cation transmembrane transport	IEA	biological process
GO:0097682	intracellular phosphatidylinositol-3,5-bisphosphate-sensitive cation channel activity	IEA	molecular function
GO:0071277	cellular response to calcium ion	IEA	biological process
GO:0051289	protein homotetramerization	IEA	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0097352	autophagosome maturation	IEA	biological process
GO:0071467	cellular response to pH	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0072345	NAADP-sensitive calcium-release channel activity	IEA	molecular function
GO:0051209	release of sequestered calcium ion into cytosol	IEA	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0001891	phagocytic cup	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0030670	phagocytic vesicle membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0034755	iron ion transmembrane transport	IEA	biological process
GO:0019722	calcium-mediated signaling	IEA	biological process
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0006812	cation transport	NAS	biological process
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0005261	cation channel activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Mucolipidosis IV	KEGG:H00144
Mucolipidosis IV	KEGG:H00144
Glycoproteinosis	PMID:10973263
Cryptorchidism	MIK: 28606200

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