MCOLN3
Mucolipin-3
Also known as: FLJ11006, MCLN3_HUMAN, TRP-ML3, TRPML3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8TDD5
- Gene
- MCOLN3
- Ensembl
- ENSG00000055732
- Chromosome
- 1
- Canonical length
- 553 aa
- Protein class
- Predicted membrane proteins, Transporters, Voltage-gated ion channels
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
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 problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Canonical amino-acid sequenceUniProt
553 residues, UniProt reviewed canonical sequence.
>Q8TDD5|MCOLN3
1 MADPEVVVSS CSSHEEENRC NFNQQTSPSE ELLLEDQMRR KLKFFFMNPC EKFWARGRKP
61 WKLAIQILKI AMVTIQLVLF GLSNQMVVAF KEENTIAFKH LFLKGYMDRM DDTYAVYTQS
121 DVYDQLIFAV NQYLQLYNVS VGNHAYENKG TKQSAMAICQ HFYKRGNIYP GNDTFDIDPE
181 IETECFFVEP DEPFHIGTPA ENKLNLTLDF HRLLTVELQF KLKAINLQTV RHQELPDCYD
241 FTLTITFDNK AHSGRIKISL DNDISIRECK DWHVSGSIQK NTHYMMIFDA FVILTCLVSL
301 ILCIRSVIRG LQLQQEFVNF FLLHYKKEVS VSDQMEFVNG WYIMIIISDI LTIIGSILKM
361 EIQAKSLTSY DVCSILLGTS TMLVWLGVIR YLGFFAKYNL LILTLQAALP NVIRFCCCAA
421 MIYLGYCFCG WIVLGPYHDK FRSLNMVSEC LFSLINGDDM FATFAKMQQK SYLVWLFSRI
481 YLYSFISLFI YMILSLFIAL ITDTYETIKQ YQQDGFPETE LRTFISECKD LPNSGKYRLE
541 DDPPVSLFCC CKKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MCOLN3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 6
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 41 nTPM
Expression across tissuesHPA
Tissue
- adrenal gland: 41 nTPM
- parathyroid gland: 33 nTPM
- epididymis: 13 nTPM
- pancreas: 7 nTPM
- pituitary gland: 6.5 nTPM
- endometrium: 5.4 nTPM
Single-cell type
- adrenal cortex cells: 433 nCPM
- melanocytes: 281 nCPM
- gonadotrophs: 259 nCPM
- pituitary stem cells: 103 nCPM
- corticotrophs: 97 nCPM
- neuroendocrine cells: 89 nCPM
Immune cell
- memory CD4 T-cell: 0.6 nTPM
- naive CD4 T-cell: 0.2 nTPM
- memory CD8 T-cell: 0.1 nTPM
- total PBMC: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
Brain region
- cerebral cortex: 8.3 nTPM
- choroid plexus: 7.4 nTPM
- hippocampal formation: 7.4 nTPM
- amygdala: 1.5 nTPM
- thalamus: 1.2 nTPM
- basal ganglia: 0.7 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.94
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.62
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- calcium ion transmembrane transport
- inner ear auditory receptor cell differentiation
- locomotory behavior
Molecular functions
- calcium channel activity
- lipid binding
- monoatomic anion channel activity
- NAADP-sensitive calcium-release channel activity
- potassium channel activity
- sodium channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Polycystin cation channel, PKD1/PKD2
- Mucolipin
- Mucolipin, extracytosolic domain
- Polycystin cation channel
- Mucolipin, extracytosolic domain
- Mucolipin-3, extracytosolic/lumenal domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MCOLN3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MCOLN3 as an antibody target. Whether an autoantibody or antibody against MCOLN3 could matter depends on whether native MCOLN3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MCOLN3 is annotated at the cell surface, where native MCOLN3 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label MCOLN3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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