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The chaperonin containing TCP1 (MIM 186980) complex (CCT), also called the TCP1 ring complex, consists of 2 back-to-back rings, each containing 8 unique but homologous subunits, such as CCT4. CCT assists the folding of newly translated polypeptide substrates through multiple rounds of ATP-driven release and rebinding of partially folded intermediate forms. Substrates of CCT include the cytoskeletal proteins actin (see MIM 102560) and tubulin (see MIM 191130), as well as alpha-transducin (MIM 139330) (Won et al., 1998 [PubMed 9819444]).[supplied by OMIM, Mar 2008]
CCT4 (Chaperonin Containing TCP1 Subunit 4) is a Protein Coding gene. Diseases associated with CCT4 include Sensory Peripheral Neuropathy and Hereditary Sensory Neuropathy. Among its related pathways are Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include unfolded protein binding. An important paralog of this gene is CCT5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0005515 | protein binding | IPI | 16085932 |
GO:0005524 | ATP binding | IEA | -- |
GO:0044183 | protein binding involved in protein folding | IDA | 30955883 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002199 | zona pellucida receptor complex | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005813 | centrosome | IDA | 20080638 |
GO:0005815 | microtubule organizing center | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006457 | protein folding | IDA,TAS | -- |
GO:0007339 | binding of sperm to zona pellucida | IEA | -- |
GO:0032212 | positive regulation of telomere maintenance via telomerase | IMP | 25467444 |
GO:0050821 | protein stabilization | IMP | 25467444 |
GO:0051973 | positive regulation of telomerase activity | IMP | 25467444 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chimpanzee (Pan troglodytes) |
Mammalia | CCT4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CCT4 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CCT4 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CCT4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cct4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cct4 30 |
|
||
Chicken (Gallus gallus) |
Aves | CCT4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CCT4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cct4 30 |
|
||
Str.2717 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398959 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cct4 30 31 |
|
OneToOne | |
zgc65789 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1747 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG5525 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009505 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | cct-4 30 31 32 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CCT4 30 31 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F05005g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADR083W 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G18190 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.10395 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.5713 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0332200 30 |
|
||
Os.9114 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.2601 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.1648 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.6601 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.45 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | cct4 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU02839 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.12186 30 |
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs2272428 | - |
p.Ile112Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2657259 | CNV | deletion | 23128226 |
esv2720131 | CNV | deletion | 23290073 |
esv34000 | CNV | loss | 18971310 |
esv3591026 | CNV | loss | 21293372 |
nsv1009446 | CNV | gain | 25217958 |
nsv458074 | CNV | gain | 19166990 |
nsv470467 | CNV | gain | 18288195 |
nsv582118 | CNV | gain | 21841781 |
nsv582122 | CNV | gain | 21841781 |
nsv582123 | CNV | gain | 21841781 |
nsv7313 | OTHER | inversion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
sensory peripheral neuropathy |
|
|
hereditary sensory neuropathy |
|
|
peroxisome biogenesis disorder 11a |
|
|
dystonia, dopa-responsive, due to sepiapterin reductase deficiency |
|
|