Free for academic non-profit institutions. Other users need a Commercial license
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]
MCOLN3 (Mucolipin 3) is a Protein Coding gene. Diseases associated with MCOLN3 include Mucolipidosis and Mucolipidosis Iv. Among its related pathways are Calcium signaling pathway and TRP channels. An important paralog of this gene is MCOLN2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005261 | cation channel activity | IEA | -- |
GO:0008289 | lipid binding | IEA | -- |
GO:0072345 | NAADP-sensitive calcium-release channel activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000421 | autophagosome membrane | IEA | -- |
GO:0005623 | cell | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005764 | lysosome | IEA | -- |
GO:0005765 | lysosomal membrane | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Ion channel transport | ||
2 | Calcium signaling pathway | ||
3 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
4 | TRP channels |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0007626 | locomotory behavior | IEA | -- |
GO:0034220 | ion transmembrane transport | IEA | -- |
GO:0042491 | inner ear auditory receptor cell differentiation | IEA | -- |
GO:0051209 | release of sequestered calcium ion into cytosol | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
MK6-83 |
|
1062271-24-2 |
|
|
||
SN 2 |
|
823218-99-1 |
|
|
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MCOLN3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MCOLN3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MCOLN3 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Mcoln3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mcoln3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MCOLN3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MCOLN3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MCOLN3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mcoln3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100001113 30 |
|
||
MCOLN3 (1 of 2) 31 |
|
OneToMany | |||
mcoln3a 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG42638 30 31 |
|
ManyToMany | |
CG8743 32 |
|
|
|||
trpml 31 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007710 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | cup-5 30 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.10964 30 |
|
Disorder | Aliases | PubMed IDs |
---|---|---|
mucolipidosis |
|
|
mucolipidosis iv |
|
|
macrocephaly/autism syndrome |
|
|