Aliases for CAVIN1 Gene
Aliases for CAVIN1 Gene
External Ids for CAVIN1 Gene
- HGNC: 9688
- Entrez Gene: 284119
- Ensembl: ENSG00000177469
- OMIM: 603198
- UniProtKB: Q6NZI2
Previous HGNC Symbols for CAVIN1 Gene
- PTRF
Summaries for CAVIN1 Gene
-
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]
GeneCards Summary for CAVIN1 Gene
CAVIN1 (Caveolae Associated Protein 1) is a Protein Coding gene. Diseases associated with CAVIN1 include Lipodystrophy, Congenital Generalized, Type 4 and Congenital Generalized 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.
UniProtKB/Swiss-Prot for CAVIN1 Gene
-
Plays an important role in caveolae formation and organization. Required for the sequestration of mobile caveolin into immobile caveolae. Termination of transcription by RNA polymerase I involves pausing of transcription by TTF1, and the dissociation of the transcription complex, releasing pre-rRNA and RNA polymerase I from the template. PTRF is required for dissociation of the ternary transcription complex.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAVIN1 Gene
Genomics for CAVIN1 Gene
Regulatory Elements for CAVIN1 Gene
Enhancers for CAVIN1 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CAVIN1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for CAVIN1 Gene
- Chromosome:
- 17
- Start:
- 42,402,449 bp from pter
- End:
- 42,423,517 bp from pter
- Size:
- 21,069 bases
- Orientation:
- Minus strand
Genomic View for CAVIN1 Gene
Genes around CAVIN1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q21.2 by Ensembl
- 17q21.2 by Entrez Gene
- 17q21.31 by HGNC
CAVIN1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CAVIN1 Gene
Proteins for CAVIN1 Gene
-
Protein details for CAVIN1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6NZI2-PTRF_HUMAN
- Recommended name:
- Polymerase I and transcript release factor
- Protein Accession:
- Q6NZI2
- B2RAW7
- O00535
- Q6GMY1
- Q96H74
- Q9BT85
- Q9HAP4
Protein attributes for CAVIN1 Gene
- Size:
- 390 amino acids
- Molecular mass:
- 43476 Da
- Quaternary structure:
-
- Interacts with RNA polymerase I and TTF1. Binds the 3 end of pre-rRNA. Interacts with transcription factor ZNF148 (By similarity). Interacts with LIPE in the adipocyte cytoplasm.
Post-translational modifications for CAVIN1 Gene
- Five truncated forms are found in the caveolae. These are thought to be the result of proteolysis and may be phosphorylation-dependent.
- Phosphorylated. Present in active and inactive forms. Changes in phosphorylation pattern may alter activity (By similarity).
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for CAVIN1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for CAVIN1
- Cell Signaling Technology (CST) Antibodies for CAVIN1 (PTRF)
-
Custom Antibody ServicesOriGene Antibodies for CAVIN1
- Novus Biologicals Antibodies for CAVIN1
- Invitrogen Antibodies for CAVIN1
- antibodies-online Antibodies for CAVIN1: See all 49
- GeneTex PTRF antibody for CAVIN1
-
Custom Antibody ServicesProSci Antibodies for CAVIN1
Protein Products
-
OriGene Purified Proteins for CAVIN1
- Search Origene for MassSpec and Protein Over-expression Lysates for CAVIN1
- Origene Custom Protein Services for CAVIN1
- antibodies-online Proteins for CAVIN1: See all 7
- Search antibodies-online for peptides
- Search GeneTex for Proteins for CAVIN1
Assay Products
- antibodies-online Kits for CAVIN1: See all 4
No data available for DME Specific Peptides for CAVIN1 Gene
Domains & Families for CAVIN1 Gene
Gene Families for CAVIN1 Gene
- HGNC:
Suggested Antigen Peptide Sequences for CAVIN1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q6NZI2- Family:
-
- Belongs to the PTRF/SDPR family.
Function for CAVIN1 Gene
Molecular function for CAVIN1 Gene
- UniProtKB/Swiss-Prot Function:
- Plays an important role in caveolae formation and organization. Required for the sequestration of mobile caveolin into immobile caveolae. Termination of transcription by RNA polymerase I involves pausing of transcription by TTF1, and the dissociation of the transcription complex, releasing pre-rRNA and RNA polymerase I from the template. PTRF is required for dissociation of the ternary transcription complex.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | IDA | 22658674 |
| GO:0005515 | protein binding | IPI | 17026959 |
| GO:0019843 | rRNA binding | IEA | -- |
| GO:0042134 | rRNA primary transcript binding | IDA | 9582279 |
Phenotypes for CAVIN1 Gene
- MGI mutant phenotypes for CAVIN1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CAVIN1:
Animal Models for CAVIN1 Gene
- MGI Knock Outs for CAVIN1:
-
- Ptrf tm1Pfp
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CAVIN1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CAVIN1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CAVIN1 gene
- Search ViGene Biosciences for CAVIN1
CRISPR Products
-
OriGene CRISPR knockouts for CAVIN1
- GenScript: Design CRISPR guide RNA sequences for CAVIN1
miRNA for CAVIN1 Gene
- miRTarBase miRNAs that target CAVIN1
-
- hsa-mir-124-3p (MIRT023054)
- hsa-mir-342-3p (MIRT043709)
- hsa-mir-7109-5p (MIRT469887)
- hsa-mir-92a-2-5p (MIRT469888)
- hsa-mir-6885-5p (MIRT469889)
- hsa-mir-328-5p (MIRT469890)
- hsa-mir-6887-5p (MIRT469891)
- hsa-mir-6795-5p (MIRT469892)
- hsa-mir-625-5p (MIRT469893)
- hsa-mir-6780b-5p (MIRT469894)
- hsa-mir-4725-3p (MIRT469895)
- hsa-mir-4271 (MIRT469896)
- hsa-mir-5196-5p (MIRT469897)
- hsa-mir-4747-5p (MIRT469898)
- hsa-mir-766-5p (MIRT469899)
- hsa-mir-6081 (MIRT469900)
- hsa-mir-4533 (MIRT469901)
- hsa-mir-3665 (MIRT469902)
- hsa-mir-6836-5p (MIRT469903)
- hsa-mir-6132 (MIRT469904)
- hsa-mir-6770-5p (MIRT469905)
- hsa-mir-6806-3p (MIRT469906)
- hsa-mir-3928-5p (MIRT469907)
- hsa-mir-3919 (MIRT469908)
- hsa-mir-7843-5p (MIRT469909)
- hsa-mir-6879-5p (MIRT469910)
- hsa-mir-6735-5p (MIRT469911)
- hsa-mir-4632-5p (MIRT469912)
- hsa-mir-4436b-3p (MIRT469913)
- hsa-mir-570-5p (MIRT469914)
- hsa-mir-548ba (MIRT469915)
- hsa-mir-548ai (MIRT469916)
- hsa-mir-548ag (MIRT469917)
- hsa-mir-6891-5p (MIRT469918)
- hsa-mir-3173-3p (MIRT469919)
- hsa-mir-4428 (MIRT469920)
- hsa-mir-6796-3p (MIRT469921)
- hsa-mir-6855-5p (MIRT516772)
- hsa-mir-3170 (MIRT516774)
- hsa-mir-7151-3p (MIRT516775)
- hsa-mir-5095 (MIRT516776)
- hsa-mir-193b-5p (MIRT516777)
- hsa-mir-5589-5p (MIRT516778)
- hsa-mir-4731-5p (MIRT516779)
- hsa-mir-7155-5p (MIRT516780)
- hsa-mir-512-3p (MIRT516781)
- hsa-mir-4438 (MIRT516782)
- hsa-mir-520e (MIRT516783)
- hsa-mir-520d-3p (MIRT516784)
- hsa-mir-520c-3p (MIRT516785)
- hsa-mir-520b (MIRT516786)
- hsa-mir-520a-3p (MIRT516787)
- hsa-mir-373-3p (MIRT516788)
- hsa-mir-372-3p (MIRT516789)
- hsa-mir-302e (MIRT516790)
- hsa-mir-302d-3p (MIRT516791)
- hsa-mir-302c-3p (MIRT516792)
- hsa-mir-302b-3p (MIRT516793)
- hsa-mir-302a-3p (MIRT516794)
- hsa-mir-93-5p (MIRT516795)
- hsa-mir-526b-3p (MIRT516796)
- hsa-mir-519d-3p (MIRT516797)
- hsa-mir-20b-5p (MIRT516798)
- hsa-mir-20a-5p (MIRT516799)
- hsa-mir-17-5p (MIRT516800)
- hsa-mir-106b-5p (MIRT516801)
- hsa-mir-106a-5p (MIRT516802)
- hsa-mir-6778-3p (MIRT542032)
- hsa-mir-150-5p (MIRT542033)
- hsa-mir-186-3p (MIRT542034)
- hsa-mir-520h (MIRT542035)
- hsa-mir-520g-3p (MIRT542036)
- hsa-mir-6803-3p (MIRT725195)
- hsa-mir-1229-3p (MIRT725196)
- hsa-mir-6880-3p (MIRT725197)
- hsa-mir-6760-3p (MIRT725198)
- hsa-mir-6785-3p (MIRT725199)
- hsa-mir-216b-3p (MIRT725200)
- hsa-mir-136-3p (MIRT725201)
miRNA Products
- Search ViGene Biosciences for CAVIN1
Inhibitory RNA Products
- Origene RNAi, shRNA, and siRNA products in human, mouse, rat for CAVIN1
- Browse OriGene Inhibitory RNA Products For CAVIN1
-
ViGene Biosciences ready-to-package AAV shRNAs for CAVIN1 gene
Clone Products
-
OriGene ORF clones in human for CAVIN1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CAVIN1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CAVIN1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CAVIN1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for CAVIN1
-
ViGene Biosciences adenoviral particle packaged cDNA for CAVIN1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CAVIN1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CAVIN1 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CAVIN1 Gene
Localization for CAVIN1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CAVIN1 Gene
- Membrane, caveola. Cell membrane. Microsome. Endoplasmic reticulum. Cytoplasm, cytosol. Mitochondrion. Nucleus. Note=Found at the surface of the caveolae. Also found in the plasma membrane, microsomal and cytosolic fractions and at a low level in the mitochondrial and nuclear fractions. Translocates to the cytoplasm from caveolae upon insulin stimulation. CAV1 is necessary to recruit it to the cell membrane. Colocalizes with CAV1 in lipid rafts in adipocytes. {ECO:0000269 PubMed:15242332}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| mitochondrion | 5 |
| nucleus | 5 |
| endoplasmic reticulum | 3 |
| cytosol | 3 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 15242332 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 17026959 |
| GO:0005739 | mitochondrion | IDA,IEA | 15242332 |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
Pathways & Interactions for CAVIN1 Gene
| 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 | ||
Pathways by source for CAVIN1 Gene
1 Cell Signaling Technology pathway for CAVIN1 Gene
4 Reactome pathways for CAVIN1 Gene
Interacting Proteins for CAVIN1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006353 | DNA-templated transcription, termination | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006361 | transcription initiation from RNA polymerase I promoter | IDA | 9582279 |
| GO:0006363 | termination of RNA polymerase I transcription | TAS | -- |
No data available for SIGNOR curated interactions for CAVIN1 Gene
Transcripts for CAVIN1 Gene
mRNA/cDNA for CAVIN1 Gene
- (2) REFSEQ mRNAs :
- (14) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for CAVIN1
- GenScript: Design CRISPR guide RNA sequences for CAVIN1
miRNA Products
- Search ViGene Biosciences for CAVIN1
Inhibitory RNA Products
- Origene RNAi, shRNA, and siRNA products in human, mouse, rat for CAVIN1
- Browse OriGene Inhibitory RNA Products For CAVIN1
-
ViGene Biosciences ready-to-package AAV shRNAs for CAVIN1 gene
Clone Products
-
OriGene ORF clones in human for CAVIN1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CAVIN1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CAVIN1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CAVIN1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for CAVIN1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
NURSA nuclear receptor signaling pathways regulating expression of CAVIN1 Gene:
CAVIN1Evidence on tissue expression from TISSUES for CAVIN1 Gene
- Nervous system(4.8)
- Skin(4.7)
- Kidney(4.6)
- Lung(4.6)
- Liver(4.4)
- Pancreas(3.7)
- Spleen(3.6)
- Eye(3)
- Muscle(3)
- Intestine(2.9)
- Heart(2.8)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CAVIN1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- reproductive
- respiratory
- skeletal muscle
- skeleton
Organs:
Head and neck:
- ear
- face
- forehead
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- pharynx
- skull
Thorax:
- chest wall
- clavicle
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- duodenum
- intestine
- large intestine
- liver
- pancreas
- small intestine
- spleen
- stomach
Pelvis:
- ovary
- pelvis
- rectum
- uterus
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- skin
- spinal column
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for CAVIN1
-
OriGene qPCR primer pairs and template standards for CAVIN1
No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for CAVIN1 Gene
Orthologs for CAVIN1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PTRF 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | PTRF 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | PTRF 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ptrf 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Ptrf 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PTRF 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PTRF 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PTRF 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | PTRF 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ptrf 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | ptrf-prov 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ptrfb 34 35 |
|
||
| ptrfa 35 |
|
OneToMany | |||
| wufd20g07 34 |
|
- Species where no ortholog for CAVIN1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for CAVIN1 Gene
Variants for CAVIN1 Gene
| SNP ID | Clin | Chr 17 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_035982 | A breast cancer sample | ||||
| rs112332573 | Likely benign | 42,404,933(+) | GAGCG(C/T)GCGTA | reference, synonymous-codon | |
| rs11546699 | Likely benign | 42,402,899(-) | AGACA(C/G/T)GAGTC | utr-variant-3-prime | |
| rs35648297 | Likely benign | 42,405,017(+) | GGCAC(C/T)AGGCG | reference, synonymous-codon | |
| rs4796583 | Likely benign | 42,403,241(+) | AGGAG(C/G)TTGAG | utr-variant-3-prime |
Residual Variation Intolerance Score:
48.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.45;
28.35% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for CAVIN1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CAVIN1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAVIN1 Gene
Disorders for CAVIN1 Gene
(3) MalaCards diseases for CAVIN1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lipodystrophy, congenital generalized, type 4 |
|
|
| congenital generalized lipodystrophy |
|
|
| lipodystrophy |
|
|
Search CAVIN1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PTRF_HUMAN- Congenital generalized lipodystrophy 4 (CGL4) [MIM:613327]: A disorder characterized by the association of congenital generalized lipodystrophy with muscular dystrophy and cardiac anomalies. Congenital generalized lipodystrophy is characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. {ECO:0000269 PubMed:19726876, ECO:0000269 PubMed:20684003}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for CAVIN1
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- CAVIN1
No data available for Genatlas for CAVIN1 Gene
Publications for CAVIN1 Gene
- Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. (PMID: 15242332) Aboulaich N. … Vener A.V. (Biochem. J. 2004) 3 4 22 64
- Cloning and functional characterization of PTRF, a novel protein which induces dissociation of paused ternary transcription complexes. (PMID: 9582279) Jansa P. … Grummt I. (EMBO J. 1998) 2 3 4 64
- Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. (PMID: 20684003) Shastry S. … Garg A. (Am. J. Med. Genet. A 2010) 3 4 64
- Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. (PMID: 19726876) Hayashi Y.K. … Nishino I. (J. Clin. Invest. 2009) 3 4 64
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
Products for CAVIN1 Gene
- Browse R&D Systems for Antibodies
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- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
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- Browse Cell Culture Products
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- Browse Luminex Assays
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- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for CAVIN1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CAVIN1
- Search Origene for MassSpec and Protein Over-expression Lysates for CAVIN1
- Origene Custom Protein Services for CAVIN1
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CAVIN1
- Browse OriGene Inhibitory RNA Products For CAVIN1
- OriGene qPCR primer pairs and template standards for CAVIN1
- OriGene qPCR primer pairs for CAVIN1
- OriGene CRISPR knockouts for CAVIN1
- OriGene ORF clones in human for CAVIN1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CAVIN1
- GenScript: Next-day shipping cDNA ORF clone for CAVIN1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for CAVIN1
- GenScript Custom Assay Services for CAVIN1
- GenScript Custom overexpressing Cell Line Services for CAVIN1
- GenScript: Design CRISPR guide RNA sequences for CAVIN1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for CAVIN1
- Cell Signaling Technology (CST) Antibodies for CAVIN1 (PTRF)
- Search for Antibodies & Assays
- Sino Biological Human cDNA Clone for CAVIN1
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for CAVIN1
- Novus Biologicals proteins and lysates for CAVIN1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- antibodies-online Antibodies for CAVIN1: See all 49
- antibodies-online Kits for CAVIN1: See all 4
- antibodies-online Proteins for CAVIN1: See all 7
- Search antibodies-online for peptides
- GeneTex PTRF antibody for CAVIN1
- Search GeneTex for Proteins for CAVIN1
- ViGene Biosciences adenoviral particle packaged cDNA for CAVIN1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for CAVIN1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for CAVIN1 gene
- Search ViGene Biosciences for CAVIN1
- Custom Antibody ServicesProSci Antibodies for CAVIN1
- Search for CAVIN1 Proteins at ProSci
- Horizon Cell Lines for CAVIN1
- Cyagen custom Knockout/knockin (KOKI) mouse models for CAVIN1
- VectorBuilder custom plasmid, inducible vectors for CAVIN1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CAVIN1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CAVIN1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer