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This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]
CAVIN1 (Caveolae Associated Protein 1) is a Protein Coding gene. Diseases associated with CAVIN1 include Lipodystrophy, Congenital Generalized, Type 4 and Berardinelli-Seip Congenital Lipodystrophy. Among its related pathways are Gene Expression and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. An important paralog of this gene is CAVIN2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | IEA,HDA | 22658674 |
GO:0005515 | protein binding | IPI | 17026959 |
GO:0019843 | rRNA binding | IEA | -- |
GO:0042134 | rRNA primary transcript binding | IDA | 9582279 |
GO:0042802 | identical protein binding | IPI | 24013648 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 15242332 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IBA,IDA | 17026959 |
GO:0005739 | mitochondrion | IEA,IDA | 15242332 |
GO:0005783 | endoplasmic reticulum | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
2 | Cytoskeletal Signaling | ||
3 | Gene Expression |
.48
|
|
4 | RNA Polymerase I Promoter Escape |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006353 | DNA-templated transcription, termination | IEA | -- |
GO:0006361 | transcription initiation from RNA polymerase I promoter | IDA | 9582279 |
GO:0006363 | termination of RNA polymerase I transcription | IDA,TAS | -- |
GO:0009303 | rRNA transcription | IEA,ISS | -- |
GO:0009306 | protein secretion | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PTRF 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PTRF 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PTRF 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ptrf 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ptrf 30 31 |
|
OneToOne | |
Cavin1 17 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | PTRF 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PTRF 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PTRF 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PTRF 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ptrf 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | ptrf-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ptrfb 30 31 |
|
OneToMany | |
ptrfa 31 |
|
OneToMany | |||
wufd20g07 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
727012 | Likely Benign: not provided | 42,422,990(-) | C/T | SYNONYMOUS_VARIANT | |
729344 | Benign: not provided | 42,405,143(-) | C/T | SYNONYMOUS_VARIANT | |
746112 | Likely Benign: not provided | 42,404,933(-) | C/G | SYNONYMOUS_VARIANT | |
752625 | Likely Benign: not provided | 42,405,397(-) | A/G | INTRON_VARIANT | |
805254 | Uncertain Significance: not provided | 42,405,213(-) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
lipodystrophy, congenital generalized, type 4 |
|
|
berardinelli-seip congenital lipodystrophy |
|
|
congenital generalized lipodystrophy |
|
|
complete generalized lipodystrophy |
|
|
lipodystrophy, congenital generalized, type 2 |
|
|