MCOLN3 (mucolipin TRP cation channel 3)

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Gene miRNA Gene ontology Other IDs Protein Pathways Related genes Diseases linked via similar genes

Gene

• Entrez ID: 55283
• Gene name: Mucolipin TRP cation channel 3
• Gene symbol: MCOLN3
• Synonyms (NCBI Gene): TRP-ML3, TRPML3
• Chromosome: 1
• Chromosome location: 1p22.3
• Summary: 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

miRNA Show/Hide all (97)

miRTarBase ID	miRNA	Experiments	Reference
MIRT619136	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT619135	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT619134	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT619133	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT619132	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT619131	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT619136	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT619135	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT619134	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT619133	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT619132	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT619131	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT1137968	hsa-miR-3152-3p	CLIP-seq
MIRT1137969	hsa-miR-3190	CLIP-seq
MIRT1137970	hsa-miR-4289	CLIP-seq
MIRT1137971	hsa-miR-4464	CLIP-seq
MIRT1137972	hsa-miR-4748	CLIP-seq
MIRT1137973	hsa-miR-4752	CLIP-seq
MIRT1137974	hsa-miR-4760-5p	CLIP-seq
MIRT2039163	hsa-miR-101	CLIP-seq
MIRT2039164	hsa-miR-1183	CLIP-seq
MIRT2039165	hsa-miR-136	CLIP-seq
MIRT2039166	hsa-miR-144	CLIP-seq
MIRT2039167	hsa-miR-4272	CLIP-seq
MIRT2039168	hsa-miR-4330	CLIP-seq
MIRT2039169	hsa-miR-4742-3p	CLIP-seq
MIRT2039170	hsa-miR-630	CLIP-seq
MIRT2039171	hsa-miR-642b	CLIP-seq
MIRT2039172	hsa-miR-802	CLIP-seq
MIRT2269209	hsa-miR-132	CLIP-seq
MIRT2269210	hsa-miR-133a	CLIP-seq
MIRT2269211	hsa-miR-133b	CLIP-seq
MIRT2269212	hsa-miR-2052	CLIP-seq
MIRT2269213	hsa-miR-212	CLIP-seq
MIRT2269214	hsa-miR-3135	CLIP-seq
MIRT2269215	hsa-miR-3171	CLIP-seq
MIRT2269216	hsa-miR-3650	CLIP-seq
MIRT2269217	hsa-miR-4307	CLIP-seq
MIRT2039163	hsa-miR-101	CLIP-seq
MIRT2039164	hsa-miR-1183	CLIP-seq
MIRT2568464	hsa-miR-1253	CLIP-seq
MIRT2039165	hsa-miR-136	CLIP-seq
MIRT2568465	hsa-miR-138	CLIP-seq
MIRT2039166	hsa-miR-144	CLIP-seq
MIRT2568466	hsa-miR-204	CLIP-seq
MIRT2568467	hsa-miR-211	CLIP-seq
MIRT2568468	hsa-miR-23a	CLIP-seq
MIRT2568469	hsa-miR-23b	CLIP-seq
MIRT2568470	hsa-miR-23c	CLIP-seq
MIRT1137968	hsa-miR-3152-3p	CLIP-seq
MIRT2568471	hsa-miR-335	CLIP-seq
MIRT2568472	hsa-miR-3613-5p	CLIP-seq
MIRT2039167	hsa-miR-4272	CLIP-seq
MIRT1137970	hsa-miR-4289	CLIP-seq
MIRT2568473	hsa-miR-4299	CLIP-seq
MIRT2269217	hsa-miR-4307	CLIP-seq
MIRT2039168	hsa-miR-4330	CLIP-seq
MIRT2568474	hsa-miR-4438	CLIP-seq
MIRT2568475	hsa-miR-4456	CLIP-seq
MIRT2568476	hsa-miR-4466	CLIP-seq
MIRT2039169	hsa-miR-4742-3p	CLIP-seq
MIRT1137974	hsa-miR-4760-5p	CLIP-seq
MIRT2568477	hsa-miR-4774-3p	CLIP-seq
MIRT2568478	hsa-miR-4778-5p	CLIP-seq
MIRT2568479	hsa-miR-498	CLIP-seq
MIRT2568480	hsa-miR-548q	CLIP-seq
MIRT2039170	hsa-miR-630	CLIP-seq
MIRT2039171	hsa-miR-642b	CLIP-seq
MIRT2568481	hsa-miR-675	CLIP-seq
MIRT2039172	hsa-miR-802	CLIP-seq
MIRT2039164	hsa-miR-1183	CLIP-seq
MIRT2568464	hsa-miR-1253	CLIP-seq
MIRT2039165	hsa-miR-136	CLIP-seq
MIRT2568465	hsa-miR-138	CLIP-seq
MIRT2568466	hsa-miR-204	CLIP-seq
MIRT2568467	hsa-miR-211	CLIP-seq
MIRT2568468	hsa-miR-23a	CLIP-seq
MIRT2568469	hsa-miR-23b	CLIP-seq
MIRT2568470	hsa-miR-23c	CLIP-seq
MIRT1137968	hsa-miR-3152-3p	CLIP-seq
MIRT2568471	hsa-miR-335	CLIP-seq
MIRT2039167	hsa-miR-4272	CLIP-seq
MIRT1137970	hsa-miR-4289	CLIP-seq
MIRT2568473	hsa-miR-4299	CLIP-seq
MIRT2269217	hsa-miR-4307	CLIP-seq
MIRT2039168	hsa-miR-4330	CLIP-seq
MIRT2568475	hsa-miR-4456	CLIP-seq
MIRT2568476	hsa-miR-4466	CLIP-seq
MIRT2039169	hsa-miR-4742-3p	CLIP-seq
MIRT1137974	hsa-miR-4760-5p	CLIP-seq
MIRT2568477	hsa-miR-4774-3p	CLIP-seq
MIRT2568478	hsa-miR-4778-5p	CLIP-seq
MIRT2568479	hsa-miR-498	CLIP-seq
MIRT2568480	hsa-miR-548q	CLIP-seq
MIRT2039170	hsa-miR-630	CLIP-seq
MIRT2039171	hsa-miR-642b	CLIP-seq
MIRT2568481	hsa-miR-675	CLIP-seq

Gene ontology (GO) Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000421	Component	Autophagosome membrane	IEA
GO:0005253	Function	Monoatomic anion channel activity	IEA
GO:0005253	Function	Monoatomic anion channel activity	ISS
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005262	Function	Calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	TAS
GO:0005267	Function	Potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	ISS
GO:0005272	Function	Sodium channel activity	IEA
GO:0005272	Function	Sodium channel activity	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0042491	Process	Inner ear auditory receptor cell differentiation	IEA
GO:0070588	Process	Calcium ion transmembrane transport	TAS
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0072345	Function	NAADP-sensitive calcium-release channel activity	IBA
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA

Other IDs

• MIM: 607400
• HGNC: 13358
• e!Ensembl: ENSG00000055732

Protein

• UniProt ID: Q8TDD5
• Protein name: Mucolipin-3 (Transient receptor potential channel mucolipin 3) (TRPML3)
• Protein function: Nonselective cation channel probably playing a role in the regulation of membrane trafficking events. Acts as a Ca(2+)-permeable cation channel with inwardly rectifying activity (PubMed:18369318, PubMed:19497048, PubMed:19522758, PubMed:19885840
• PDB: 6AYE , 6AYF , 6AYG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08016	PKD_channel	363 → 508	Polycystin cation channel	Family

• Sequence:

  MADPEVVVSSCSSHEEENRCNFNQQTSPSEELLLEDQMRRKLKFFFMNPCEKFWARGRKP
  WKLAIQILKIAMVTIQLVLFGLSNQMVVAFKEENTIAFKHLFLKGYMDRMDDTYAVYTQS
  DVYDQLIFAVNQYLQLYNVSVGNHAYENKGTKQSAMAICQHFYKRGNIYPGNDTFDIDPE
  IETECFFVEPDEPFHIGTPAENKLNLTLDFHRLLTVELQFKLKAINLQTVRHQELPDCYD
  FTLTITFDNKAHSGRIKISLDNDISIRECKDWHVSGSIQKNTHYMMIFDAFVILTCLVSL
  ILCIRSVIRGLQLQQEFVNFFLLHYKKEVSVSDQMEFVNGWYIMIIISDILTIIGSILKM
  EIQAKSLTSYDVCSILLGTSTMLVWLGVIRYLGFFAKYNLLILTLQAALPNVIRFCCCAA
  MIYLGYCFCGWIVLGPYHDKFRSLNMVSECLFSLINGDDMFATFAKMQQKSYLVWLFSRI
  YLYSFISLFIYMILSLFIALITDTYETIKQYQQDGFPETELRTFISECKDLPNSGKYRLE
  DDPPVSLFCCCKK

• Sequence length: 553

Pathways

KEGG Pathway:

Calcium signaling pathway

Reactome Pathway:

TRP channels

Related Genes

Sort by: Blended Diseases Pathways Evidence source

MCOLN2 2 shared pathwaysCalcium signaling pathway, TRP channels Related via 2 shared pathways including Calcium signaling pathway, TRP channels. MCOLN1 2 shared pathwaysCalcium signaling pathway, TRP channels Related via 2 shared pathways including Calcium signaling pathway, TRP channels.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MCOLN2	0	[]	2	["Calcium signaling pathway","TRP channels"]	0	[]
MCOLN1	0	[]	2	["Calcium signaling pathway","TRP channels"]	0	[]

Diseases Linked via Similar Genes

Brainstem atrophy Linked via 1 of 2 related genesMCOLN1 Congenital neurologic anomalies Linked via 1 of 2 related genesMCOLN1 Corneal dystrophy Linked via 1 of 2 related genesMCOLN1 Intellectual developmental disorder Linked via 1 of 2 related genesMCOLN1 Kidney failure Linked via 1 of 2 related genesMCOLN1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Brainstem atrophy	1	["MCOLN1"]
Congenital neurologic anomalies	1	["MCOLN1"]
Corneal dystrophy	1	["MCOLN1"]
Intellectual developmental disorder	1	["MCOLN1"]
Kidney failure	1	["MCOLN1"]