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Aliases for CAVIN1 Gene

Aliases for CAVIN1 Gene

  • Caveolae Associated Protein 1 2 3 5
  • Polymerase I And Transcript Release Factor 2 3 4
  • Congenital Generalized Lipodystrophy 4 2 3
  • Cavin-1 3 4
  • PTRF 3 4
  • RNA Polymerase I And Transcript Release Factor 3
  • Caveolae-Associated Protein 1 3
  • TTF-I Interacting Peptide 12 3
  • FKSG13 3
  • CAVIN 3
  • CGL4 3

External Ids for CAVIN1 Gene

Previous HGNC Symbols for CAVIN1 Gene

  • PTRF

Summaries for CAVIN1 Gene

Entrez Gene Summary 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).

Gene Wiki entry for CAVIN1 Gene

Additional gene information for CAVIN1 Gene

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
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J042419 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 664.3 +1.6 1573 5.2 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 POLR2B CAVIN1 LOC102725238 LINC00910 HMGN1P29 NBR2 CNTD1 RETREG3 ENSG00000267758 ACLY DHX58
GH17J042424 Enhancer 0.5 dbSUPER 650.7 -1.7 -1743 1.2 ZNF335 PKNOX1 EGR1 SIX5 CAVIN1 NAGLU ATP6V0A1 LOC102725238 RNU7-97P
GH17J043322 Enhancer 1.5 Ensembl ENCODE dbSUPER 31.5 -899.6 -899646 1.6 CLOCK MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF213 ZNF416 ZNF143 UBTF ASB16-AS1 ENSG00000267340 DHX8 ENSG00000267002 HMGN1P29 TMUB2 NBR2 LINC00910 PLEKHH3
GH17J042565 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.4 -143.9 -143921 3.4 HDGF SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 MLX CNTNAP1 TUBG2 CAVIN1 FKBP10 ENSG00000259623 VAT1 ENSG00000267765 RPL27 HSD17B1P1
GH17J042386 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.5 +35.1 35069 4.3 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 STAT3 GC17M042386 NBR1 ENSG00000267765 ENSG00000267002 KLHL10 HMGN1P29 ENSG00000267758 ENSG00000267340 TUBG2
- 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

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:
CAVIN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAVIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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).

    Alternative splice isoforms for CAVIN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CAVIN1 Gene

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:

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

Protein Domains for CAVIN1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CAVIN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q6NZI2

UniProtKB/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.
genes like me logo Genes that share domains with CAVIN1: view

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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with CAVIN1: view
genes like me logo Genes that share phenotypes with CAVIN1: view

Human Phenotype Ontology for CAVIN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CAVIN1 Gene

MGI Knock Outs for CAVIN1:

Animal Model Products

miRNA for CAVIN1 Gene

miRTarBase miRNAs that target CAVIN1

Clone 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=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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAVIN1 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
nucleus 5
endoplasmic reticulum 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CAVIN1 Gene

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 --
genes like me logo Genes that share ontologies with CAVIN1: view

Pathways & Interactions for CAVIN1 Gene

genes like me logo Genes that share pathways with CAVIN1: view

Pathways by source for CAVIN1 Gene

Gene Ontology (GO) - Biological Process 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 IDA,TAS --
genes like me logo Genes that share ontologies with CAVIN1: view

No data available for SIGNOR curated interactions for CAVIN1 Gene

Drugs & Compounds for CAVIN1 Gene

No Compound Related Data Available

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 :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAVIN1 Gene

No ASD Table

Relevant External Links for CAVIN1 Gene

GeneLoc Exon Structure for
CAVIN1
ECgene alternative splicing isoforms for
CAVIN1

Expression for CAVIN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of CAVIN1 Gene:

CAVIN1

Evidence 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
genes like me logo Genes that share expression patterns with CAVIN1: view

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.

Orthologs for CAVIN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTRF 34 33
  • 98.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PTRF 34 33
  • 91.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PTRF 34 33
  • 91.71 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ptrf 33
  • 91.11 (n)
mouse
(Mus musculus)
Mammalia Ptrf 34 33
  • 91.03 (n)
OneToOne
Cavin1 16
oppossum
(Monodelphis domestica)
Mammalia PTRF 34
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTRF 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTRF 34 33
  • 74.11 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTRF 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptrf 33
  • 69.55 (n)
African clawed frog
(Xenopus laevis)
Amphibia ptrf-prov 33
zebrafish
(Danio rerio)
Actinopterygii ptrfb 34 33
  • 65.58 (n)
OneToMany
ptrfa 34
  • 45 (a)
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

Paralogs for CAVIN1 Gene

genes like me logo Genes that share paralogs with CAVIN1: view

Variants for CAVIN1 Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for CAVIN1 Gene

Variant ID Type Subtype PubMed ID
esv33998 OTHER inversion 15654335
nsv1146669 OTHER inversion 26484159
nsv470586 CNV gain 18288195
nsv575051 CNV gain 21841781
nsv833449 CNV loss 17160897

Variation tolerance for CAVIN1 Gene

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

Human Gene Mutation Database (HGMD)
CAVIN1
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

MalaCards: The human disease database

(5) MalaCards diseases for CAVIN1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lipodystrophy, congenital generalized, type 4
  • cgl4
congenital generalized lipodystrophy
  • beradinelli-seip syndrome
familial partial lipodystrophy
  • dunnigan syndrome
muscular dystrophy
  • muscular dystrophies
long qt syndrome
  • romano-ward syndrome
- elite association - COSMIC cancer census association via MalaCards

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

genes like me logo Genes that share disorders with CAVIN1: view

No data available for Genatlas for CAVIN1 Gene

Publications for CAVIN1 Gene

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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

Sources for CAVIN1 Gene

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