• Gene id: 55283

Gene Summary

• Gene Symbol: MCOLN3   Gene   UCSC   Ensembl
• Aliases: TRP-ML3, TRPML3
• Gene name: mucolipin 3
• Alternate names: mucolipin-3, transient receptor potential channel mucolipin 3,
• Gene location: 1p22.3 (85048901: 85018081)     Exons: 17     NC_000001.11
• Gene summary(Entrez): This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problem
• OMIM: 607400

Protein Summary

• Protein general information: Q8TDD5  
  • Name: Mucolipin 3 (Transient receptor potential channel mucolipin 3) (TRPML3)
  • Length: 553  
  • Mass: 64248
• Sequence:

  MADPEVVVSSCSSHEEENRCNFNQQTSPSEELLLEDQMRRKLKFFFMNPCEKFWARGRKPWKLAIQILKIAMVTI
  QLVLFGLSNQMVVAFKEENTIAFKHLFLKGYMDRMDDTYAVYTQSDVYDQLIFAVNQYLQLYNVSVGNHAYENKG
  TKQSAMAICQHFYKRGNIYPGNDTFDIDPEIETECFFVEPDEPFHIGTPAENKLNLTLDFHRLLTVELQFKLKAI
  NLQTVRHQELPDCYDFTLTITFDNKAHSGRIKISLDNDISIRECKDWHVSGSIQKNTHYMMIFDAFVILTCLVSL
  ILCIRSVIRGLQLQQEFVNFFLLHYKKEVSVSDQMEFVNGWYIMIIISDILTIIGSILKMEIQAKSLTSYDVCSI
  LLGTSTMLVWLGVIRYLGFFAKYNLLILTLQAALPNVIRFCCCAAMIYLGYCFCGWIVLGPYHDKFRSLNMVSEC
  LFSLINGDDMFATFAKMQQKSYLVWLFSRIYLYSFISLFIYMILSLFIALITDTYETIKQYQQDGFPETELRTFI
  SECKDLPNSGKYRLEDDPPVSLFCCCKK

• Structural information:
  • Interpro: IPR039031  IPR013122  
  • PDB: 6AYE 6AYF 6AYG
  • PDBsum: 6AYE 6AYF 6AYG
  • STRING: ENSP00000359621
• Other Databases: GeneCards:  MCOLN3  Malacards:  MCOLN3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0072345	NAADP-sensitive calcium-release channel activity	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005261	cation channel activity	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0070588	calcium ion transmembrane transport	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0042491	inner ear auditory receptor cell differentiation	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0031902	late endosome membrane	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0000421	autophagosome membrane	IEA	cellular component
GO:0051209	release of sequestered calcium ion into cytosol	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R