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 RNA Polymerase I Promoter Escape and Cytoskeletal Signaling. An important paralog of this gene is CAVIN2.
UniProtKB/Swiss-Prot for CAVIN1 Gene
-
Plays an important role in caveolae formation and organization. Essential for the formation of caveolae in all tissues (PubMed:18056712, PubMed:18191225, PubMed:19726876). Core component of the CAVIN complex which is essential for recruitment of the complex to the caveolae in presence of calveolin-1 (CAV1). Essential for normal oligomerization of CAV1. Promotes ribosomal transcriptional activity in response to metabolic challenges in the adipocytes and plays an important role in the formation of the ribosomal transcriptional loop. Dissociates transcription complexes paused by DNA-bound TTF1, thereby releasing both RNA polymerase I and pre-RNA from the template (By similarity).
Additional gene information for CAVIN1 Gene
- Monarch Initiative
- Search for CAVIN1 at DataMed
- Search for CAVIN1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAVIN1 Gene
Genomics for CAVIN1 Gene
GeneHancer (GH) Regulatory Elements for CAVIN1 Gene
Promoters and enhancers for CAVIN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around CAVIN1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for CAVIN1 Gene
Genomic Locations for CAVIN1 Gene
- chr17:42,402,449-42,423,517
- (GRCh38/hg38)
- Size:
- 21,069 bases
- Orientation:
- Minus strand
- chr17:40,554,467-40,575,535
- (GRCh37/hg19)
- 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 Entrez Gene
- 17q21.31 by HGNC
- 17q21.2 by Ensembl
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-CAVN1_HUMAN
- Recommended name:
- Caveolae-associated protein 1
- Protein Accession:
- Q6NZI2
- B2RAW7
- O00535
- Q6GMY1
- Q96H74
- Q9BT85
- Q9HAP4
Protein attributes for CAVIN1 Gene
- Size:
- 390 amino acids
- Molecular mass:
- 43476 Da
- Quaternary structure:
-
- Component of the CAVIN complex composed of CAVIN1, CAVIN2, CAVIN3 and CAVIN4. Homotrimer (By similarity). Interacts with TTF1 (PubMed:9582279). Interacts with RNA polymerase I. Binds the 3 end of pre-rRNA. Interacts with transcription factor ZNF148 (By similarity). Interacts with LIPE in the adipocyte cytoplasm (PubMed:17026959). Interacts with CAV1 and CAVIN3 (By similarity). Interacts with CAVIN2 (PubMed:19525939, PubMed:24567387). Interacts with CAVIN4 and CAV3 (PubMed:24567387).
Post-translational modifications for CAVIN1 Gene
- Phosphorylated. Present in active and inactive forms. Changes in phosphorylation pattern may alter activity. Phosphorylation at Tyr-156 is essential for its functionin the regulation of ribosomal transcriptional activity.
- Five truncated forms are found in the caveolae. These are thought to be the result of proteolysis and may be phosphorylation-dependent.
- Monoubiquitinated.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for CAVIN1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CAVIN1
- Novus Biologicals Antibodies for CAVIN1
-
Abcam antibodies for CAVIN1
- Invitrogen Antibodies for CAVIN1 (AFLGC-CAVIN1)
- GeneTex CAVIN1 Antibody for CAVIN1
-
Custom Antibody ServicesProSci Antibodies for CAVIN1
-
Santa Cruz Biotechnology (SCBT) 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: Search results for 6 available PTRF Proteins ranked by validation data
- Compare Top PTRF Proteins
-
Quality Products:
- Search GeneTex for Proteins for CAVIN1
-
Abcam proteins for CAVIN1
Assay Products
- antibodies-online: Search results for 10 available PTRF Elisa Kits ranked by validation data
- Compare Top PTRF Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for CAVIN1 Gene
Domains & Families for CAVIN1 Gene
Gene Families for CAVIN1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for CAVIN1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q6NZI2UniProtKB/Swiss-Prot:
CAVN1_HUMAN :- The leucine-zipper domain 1 is essential for its localization in the caveolae.
- Belongs to the CAVIN family.
- Domain:
-
- The leucine-zipper domain 1 is essential for its localization in the caveolae.
- Family:
-
- Belongs to the CAVIN family.
Function for CAVIN1 Gene
Molecular function for CAVIN1 Gene
- UniProtKB/Swiss-Prot Function:
- Plays an important role in caveolae formation and organization. Essential for the formation of caveolae in all tissues (PubMed:18056712, PubMed:18191225, PubMed:19726876). Core component of the CAVIN complex which is essential for recruitment of the complex to the caveolae in presence of calveolin-1 (CAV1). Essential for normal oligomerization of CAV1. Promotes ribosomal transcriptional activity in response to metabolic challenges in the adipocytes and plays an important role in the formation of the ribosomal transcriptional loop. Dissociates transcription complexes paused by DNA-bound TTF1, thereby releasing both RNA polymerase I and pre-RNA from the template (By similarity).
Phenotypes From GWAS Catalog for CAVIN1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | 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 |
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:
-
- Cavin1 Cavin1<tm1Pfp>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CAVIN1
-
CRISPR Products
-
OriGene CRISPR knockouts for CAVIN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CAVIN1
- genomics-online: gRNA clones - Search results for 108 available PTRF gene related products
- Overview of 108 available PTRF gene related products
- Applied Biological Materials CRISPR for CAVIN1
-
Vectors and viruses for KO, Activation, Repression, and more
- 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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CAVIN1
- Browse OriGene Inhibitory RNA Products For CAVIN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAVIN1
- genomics-online: shRNA clones - Search results for 108 available PTRF gene related products
- Overview of 108 available PTRF gene related products
Clone Products
- Sino Biological Human cDNA Clone for CAVIN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CAVIN1
- Applied Biological Materials Clones for CAVIN1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CAVIN1
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=Translocates to the cytoplasm from the caveolae upon insulin stimulation (PubMed:17026959). Colocalizes with CAV1 in lipid rafts in adipocytes. Localizes in the caveolae in a caveolin-dependent manner (By similarity). {ECO:0000250 UniProtKB:O54724, ECO:0000269 PubMed:17026959}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| mitochondrion | 5 |
| nucleus | 5 |
| endoplasmic reticulum | 3 |
| cytosol | 3 |
- Plasma membrane (3)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA,IEA | 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
4 Reactome pathways for CAVIN1 Gene
1 Cell Signaling Technology pathway for CAVIN1 Gene
Interacting Proteins for CAVIN1 Gene
Selected Interacting proteins:
Q6NZI2-CAVN1_HUMAN
ENSP00000349541
for CAVIN1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for CAVIN1
| 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 | IDA,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 :
-
- ENST00000357037 3828 bps (uc002hzo.4)
CRISPR Products
-
OriGene CRISPR knockouts for CAVIN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CAVIN1
- genomics-online: gRNA clones - Search results for 108 available PTRF gene related products
- Overview of 108 available PTRF gene related products
- Applied Biological Materials CRISPR for CAVIN1
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for CAVIN1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CAVIN1
- Browse OriGene Inhibitory RNA Products For CAVIN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CAVIN1
- genomics-online: shRNA clones - Search results for 108 available PTRF gene related products
- Overview of 108 available PTRF gene related products
Clone Products
- Sino Biological Human cDNA Clone for CAVIN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CAVIN1
- Applied Biological Materials Clones for CAVIN1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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)
- Muscle(3.1)
- Eye(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
Regions:
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
- genomics-online: primer clones - Search results for 108 available PTRF gene related products
- Overview of 108 available PTRF gene related products
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 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PTRF 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PTRF 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Ptrf 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Ptrf 34 33 |
|
OneToOne | |
| Cavin1 16 |
|
||||
| oppossum (Monodelphis domestica) |
Mammalia | PTRF 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PTRF 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PTRF 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PTRF 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ptrf 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | ptrf-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ptrfb 34 33 |
|
OneToMany | |
| ptrfa 34 |
|
OneToMany | |||
| wufd20g07 33 |
|
- 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)
Evolution for CAVIN1 Gene
- ENSEMBL:
- Gene Tree for CAVIN1 (if available)
- TreeFam:
- Gene Tree for CAVIN1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CAVIN1: view image
Paralogs for CAVIN1 Gene
Variants for CAVIN1 Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs112332573 | likely-benign, not specified, Familial partial lipodystrophy | 42,404,933(-) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant | |
| rs1129422 | benign, Familial partial lipodystrophy | 42,403,781(-) | C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs11546699 | likely-benign, Familial partial lipodystrophy | 42,402,899(-) | G/A/C | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs115889684 | uncertain-significance, Familial partial lipodystrophy | 42,402,639(-) | A/G | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs117596331 | uncertain-significance, Familial partial lipodystrophy | 42,403,179(-) | C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant |
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)
Additional Variant Information for CAVIN1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAVIN1 Gene
Disorders for CAVIN1 Gene
(5) MalaCards diseases for CAVIN1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lipodystrophy, congenital generalized, type 4 |
|
|
| congenital generalized lipodystrophy |
|
|
| familial partial lipodystrophy |
|
|
| muscular dystrophy |
|
|
| long qt syndrome |
|
|
Search CAVIN1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CAVN1_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.
Additional Disease Information for 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 AV (The Biochemical journal 2004) 3 4 22 58
- Cloning and functional characterization of PTRF, a novel protein which induces dissociation of paused ternary transcription complexes. (PMID: 9582279) Jansa P … Grummt I (The EMBO journal 1998) 2 3 4 58
- MURC/Cavin-4 facilitates recruitment of ERK to caveolae and concentric cardiac hypertrophy induced by α1-adrenergic receptors. (PMID: 24567387) Ogata T … Ueyama T (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4 58
- Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. (PMID: 20684003) Shastry S … Garg A (American journal of medical genetics. Part A 2010) 3 4 58
- SDPR induces membrane curvature and functions in the formation of caveolae. (PMID: 19525939) Hansen CG … Nichols BJ (Nature cell biology 2009) 3 4 58
Products for CAVIN1 Gene
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- antibodies-online: Search results for 59 available PTRF Antibodies ranked by validation data
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- GeneTex CAVIN1 Antibody for CAVIN1
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Sources for CAVIN1 Gene
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