CAVIN1 - caveolae associated protein 1 Gene

Also Known as CGL4; PTRF; CAVIN; FKSG13; cavin-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 284119

About CAVIN1

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:42,402,449-42,423,256 (from NCBI)

This gene has 1 transcript (splice variant), 271 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in fat (RPKM 182.5), lung (RPKM 83.2) and 21 other tissues.

Summary

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 Products (1)

mRNA	Protein	Name
NM_012232.6	NP_036364.2	caveolae-associated protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	24013648	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17026959	GOA
enables rRNA primary transcript binding	IDA IDA: Inferred from direct assay	9582279	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in termination of RNA polymerase I transcription	IDA IDA: Inferred from direct assay	9582279	GOA
involved in transcription initiation at RNA polymerase I promoter	IDA IDA: Inferred from direct assay	9582279	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in caveola	IDA IDA: Inferred from direct assay	17026959	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	17026959	GOA
located in membrane raft	IDA IDA: Inferred from direct assay	25204797	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	15242332	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15242332	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	24013648	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CAVIN1 Protein Structure

PTRF_SDPR

0
100
200
300
390 a.a.

Protein Preferred Names	Protein Names
caveolae-associated protein 1	RNA polymerase I and transcript release factor

CAVIN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CAVIN1	Q6NZI2	ZSCAN21	Homo sapiens	Q9Y5A6	Validated Y2H	32296183
Intra	CAVIN1	Q6NZI2	YAF2	Homo sapiens	Q8IY57-5	Validated Y2H	32296183
Intra	CAVIN1	Q6NZI2	MRPL45	Homo sapiens	Q9BRJ2	Validated Y2H	32296183
Intra	CAVIN1	Q6NZI2	ZFP1	Homo sapiens	Q6P2D0	Validated Y2H	32296183
Intra	CAVIN1	Q6NZI2	FBXO28	Homo sapiens	Q9NVF7	Validated Y2H	32296183
Intra	CAVIN1	Q6NZI2	CAVIN3	Homo sapiens	Q969G5	Anti Tag CoIP	24013648
Intra	CAVIN1	Q6NZI2	CAVIN3	Homo sapiens	Q969G5	Anti Tag CoIP	33961781
Intra	CAVIN1	Q6NZI2	CAVIN1	Homo sapiens	Q6NZI2	Anti Tag CoIP	24013648
Intra	CAVIN1	Q6NZI2	CAVIN3	Homo sapiens	Q969G5	Validated Y2H	32296183
Intra	CAVIN1	Q6NZI2	FBXO28	Homo sapiens	Q9NVF7	Anti Tag CoIP	33961781
Intra	CAVIN1	Q6NZI2	FBXO28	Homo sapiens	Q9NVF7	Anti Tag CoIP	28514442
Intra	CAVIN1	Q6NZI2	CAVIN1	Homo sapiens	Q6NZI2	Y2H Prey Pooling	32296183
Intra	CAVIN1	Q6NZI2	CAV3	Homo sapiens	P56539	Anti Tag CoIP	19726876
Intra	CAVIN1	Q6NZI2	KAT5	Homo sapiens	Q92993	Validated Y2H	32296183
Intra	CAVIN1	Q6NZI2	CDCA7L	Homo sapiens	Q96GN5	Validated Y2H	32296183
Intra	CAVIN1	Q6NZI2	ZCCHC10	Homo sapiens	Q8TBK6	Validated Y2H	32296183
Intra	CAVIN1	Q6NZI2	CAV1	Homo sapiens	Q03135	Anti Tag CoIP	19726876
Intra	CAVIN1	Q6NZI2	CAV1	Homo sapiens	Q03135	Anti Tag CoIP	24013648
Intra	CAVIN1	Q6NZI2	INO80B	Homo sapiens	Q9C086	Validated Y2H	32296183
Intra	CAVIN1	Q6NZI2	CAVIN2	Homo sapiens	O95810	Anti Tag CoIP	24013648
Intra	CAVIN1	Q6NZI2	TNFAIP8L1	Homo sapiens	Q8WVP5	Validated Y2H	32296183
Intra	CAVIN1	Q6NZI2	TTC5	Homo sapiens	Q8N0Z6	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Lipodystrophy, Congenital Generalized, Type 4	Congenital Generalized Lipodystrophy Type 4 CGL4 Berardinelli-Seip Congenital Lipodystrophy, Type 4, With Muscular Dystrophy Lipodystrophy, Berardinelli-Seip Congenital, Type 4, With Muscular Dystrophy Berardinelli-Seip Congenital Lipodystrophy Type 4 With Muscular Dystrophy Generalized Congenital Lipodystrophy With Myopathy Congenital Generalised Lipodystrophy Type 4 Generalised Congenital Lipodystrophy Type 4 Generalised Congenital Lipodystrophy With Myopathy Generalized Congenital Lipodystrophy Type 4 Gcl4 Congenital Generalized Lipodystrophy 4 Berardinelli-Seip Congenital Lipodystrophy Type 4
Congenital Generalized Lipodystrophy	Berardinelli-Seip Congenital Lipodystrophy Berardinelli-Seip Syndrome Brunzell Syndrome Bscl Generalized Lipodystrophy Lipodystrophy, Congenital Generalized Seip Syndrome Total Lipodystrophy Cgl Lipoatrophic Diabetes Lipodystrophy, Generalized, Congenital Familial Generalized Lipodystrophy Congenital Generalized Lipodystrophy Type 2 Lipoatrophic Diabetes Mellitus Familial Partial Lipodystrophy, Type 2
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Complete Generalized Lipodystrophy
Lipodystrophy, Congenital Generalized, Type 3	Congenital Generalized Lipodystrophy Type 3 CGL3 Bscl3 Berardinelli-Seip Congenital Lipodystrophy Type 3 Berardinelli-Seip Congenital Lipodystrophy, Type 3 Lipodystrophy, Berardinelli-Seip Congenital, Type 3 Type 3 Berardinelli-Seip Congenital Lipodystrophy Congenital Generalized Lipodystrophy 3
Lipodystrophy, Congenital Generalized, Type 2	Congenital Generalized Lipodystrophy Type 2 CGL2 Berardinelli-Seip Congenital Lipodystrophy Type 2 Berardinelli-Seip Syndrome Brunzell Syndrome Bscl2-Related Total Lipodystrophy And Acromegaloid Gigantism Berardinelli-Seip Congenital Lipodystrophy, Type 2 Seip Syndrome Berardinelli Syndrome Lipodystrophy, Total, And Acromegaloid Gigantism Lipoatrophic Diabetes, Congenital Lipodystrophy, Berardinelli-Seip Congenital, Type 2 Brunzell Syndrome, Bscl2-Related Congenital Lipoatrophic Diabetes Congenital Generalized Lipodystrophy 2 Lipoatrophic Diabetes Lipodystrophy Berardinelli Type Familial Generalized Lipodystrophy Lipoatrophic Diabetes Mellitus Familial Partial Lipodystrophy, Type 2
Lipodystrophy, Familial Partial, Type 2	FPLD2 Lipoatrophic Diabetes Familial Partial Lipodystrophy Type 2 Familial Partial Lipodystrophy, Dunnigan Type Fpl2 Lipoatrophic Diabetes Mellitus Lipodystrophy, Familial Partial, Dunnigan Type Lipodystrophy, Familial, Of Limbs And Lower Trunk Lipodystrophy, Reverse Partial Familial Partial Lipodystrophy Dunnigan Type Dunnigan Syndrome Familial Lipodystrophy Of Limbs And Lower Trunk Reverse Partial Lipodystrophy Lipodystrophy, Familial Partial, 2 Generalized Lipoatrophy Associated With Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy And Leukomelanodermic Papules Lipodystrophy Familial Of Limbs And Lower Trunk Lipodystrophy Reverse Partial Diabetes Mellitus, Lipoatrophic Familial Partial Lipodystrophy, Type 2 Familial Generalized Lipodystrophy
Lipodystrophy, Congenital Generalized, Type 1	Congenital Generalized Lipodystrophy Type 1 Bscl1 CGL1 Berardinelli-Seip Congenital Lipodystrophy, Type 1 Brunzell Syndrome Agpat2-Related Berardinelli-Seip Congenital Lipodystrophy Type 1 Lipodystrophy, Berardinelli-Seip Congenital, Type 1 Brunzell Syndrome, Agpat2-Related Agpat2-Related Brunzell Syndrome Congenital Generalized Lipodystrophy 1 Berardinelli-Seip Syndrome Lipoatrophic Diabetes Lipodystrophy Berardinelli Type Total Lipodystrophy And Acromegaloid Gigantism Lipodystrophy, Generalized, Congenital, Type 1 Familial Generalized Lipodystrophy Lipoatrophic Diabetes Mellitus Familial Partial Lipodystrophy, Type 2
Acquired Generalized Lipodystrophy	Lawrence Syndrome Acquired Lipoatrophic Diabetes Lawrence-Seip Syndrome Familial Generalized Lipodystrophy
Lipodystrophy, Familial Partial, Type 4	FPLD4 Plin1-Related Familial Partial Lipodystrophy Familial Partial Lipodystrophy Type 4 Familial Partial Lipodystrophy Associated With Plin1 Mutations Plin1-Related Fpld Lipodystrophy, Familial Partial, Associated With Plin1 Mutations Lipodystrophy, Familial Partial, 4
Lipodystrophy, Familial Partial, Type 1	FPLD1 Familial Partial Lipodystrophy Type 1 Familial Partial Lipodystrophy, Kobberling Type Lipodystrophy, Familial Partial, Kobberling Type Familial Partial Lipodystrophy Kobberling Type Familial Partial Lipodystrophy Type Köbberling Familial Partial Lipodystrophy, Köbberling Type Familial Partial Lipodystrophy, Type 1
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Hypertrophic Pyloric Stenosis	Congenital Hypertrophic Pyloric Stenosis Pyloric Stenosis, Hypertrophic Congenital Or Infantile Stricture Of Pylorus Achalasia Of The Pylorus Congenital Hypertrophy Of The Pylorus Infantile Hypertrophy Of The Pylorus Infantile Constriction Of The Pylorus Congenital Stenosis Of The Pylorus Congenital Constriction Of The Pylorus Congenital Stricture Of The Pylorus Infantile Hypertrophic Pyloric Stenosis Infantile Stenosis Of The Pylorus Infantile Stricture Of The Pylorus Congenital Or Infantile Constriction Of Pylorus Infantile Pyloric Obstruction Infantile Pyloric Hypertrophy Pylorus Achalasia Pyloric Constriction Infantile Pyloric Stricture Infantile Pyloric Stenosis Congenital Spasm Of Pylorus Congenital Pylorospasm Congenital Pyloric Stricture Congenital Pyloric Spasm Congenital Or Infantile Spasm Of Pylorus Congenital Or Infantile Obstruction Of Pylorus Congenital Pyloric Stenosis
Lipodystrophy, Familial Partial, Type 3	FPLD3 Pparg-Related Familial Partial Lipodystrophy Familial Partial Lipodystrophy Type 3 Familial Partial Lipodystrophy Associated With Pparg Mutations Pparg-Related Fpld Lipodystrophy, Familial Partial, Associated With Pparg Mutations Insulin Resistance, Severe, Digenic Lipodystrophy, Familial Partial, 3 Familial Partial Lipodystrophy, Type 3
Pigmentation Disease	Pigmentation Disorders Skin Pigmentation Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-180547	MRC71		/	Unkown
HY-RS01989	CAVIN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21832	Cavin1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28349	Cavin1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CAVIN1	MGD	MGI:1277968
Canis familiaris	CAVIN1	VGNC	VGNC:38754
Rattus norvegicus	CAVIN1	RGD	RGD:1307685
Macaca mulatta	CAVIN1	VGNC	VGNC:104591
Bos taurus	CAVIN1	VGNC	VGNC:26802
Felis catus	CAVIN1	VGNC	VGNC:98771
Others	CAVIN1	NCBI