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This gene encodes a co-chaperone required for folding and accumulation of type II myosins. The protein consists of three tetratricopeptide repeat motifs at the N-terminus that form a complex with heat shock protein 90, a central region of unknown function that is conserved in all Unc-45 proteins, and a C-terminal Unc-45/Cro1/She4 domain. The protein is expressed at high levels in striated muscle, where its muscle myosin chaperone activity is dependent on heat shock protein 90 acting as a co-chaperone. A missense mutation in this gene has been associated with cataract development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
UNC45B (Unc-45 Myosin Chaperone B) is a Protein Coding gene. Diseases associated with UNC45B include Cataract 43 and Early-Onset Posterior Subcapsular Cataract. Gene Ontology (GO) annotations related to this gene include binding and Hsp90 protein binding. An important paralog of this gene is UNC45A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25036637 |
GO:0051879 | Hsp90 protein binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002088 | lens development in camera-type eye | ISS | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007517 | muscle organ development | IEA | -- |
GO:0030154 | cell differentiation | IEA | -- |
GO:0061077 | chaperone-mediated protein folding | IBA | 21873635 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | UNC45B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | UNC45B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | UNC45B 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Unc45b 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Unc45b 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | UNC45B 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | UNC45B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | unc45b 30 |
|
||
Str.11279 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | unc45b 30 31 |
|
OneToOne | |
unc45r 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003727 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | unc-45 30 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | unc-45 30 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TOM70 31 |
|
ManyToMany | |
TOM71 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
668201 | Benign: not provided | 35,168,322(+) | G/A | SYNONYMOUS_VARIANT | |
677214 | Benign: not provided | 35,150,223(+) | G/A | SYNONYMOUS_VARIANT | |
677287 | Benign: not provided | 35,186,318(+) | T/A | MISSENSE_VARIANT | |
682391 | Benign/Likely Benign: not provided | 35,164,145(+) | A/G | MISSENSE_VARIANT | |
708333 | Benign: not provided | 35,183,567(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv569e214 | CNV | gain | 21293372 |
esv3892998 | CNV | loss | 25118596 |
nsv2037 | CNV | deletion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cataract 43 |
|
|
early-onset posterior subcapsular cataract |
|
|
myopathy |
|
|
early-onset nuclear cataract |
|
|
cataract |
|
|