CAVIN1 (caveolae associated protein 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
284119
Gene name Gene Name - the full gene name approved by the HGNC.
Caveolae associated protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CAVIN1
Synonyms (NCBI Gene) Gene synonyms aliases
CAVIN, CGL4, FKSG13, PTRF, cavin-1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.2
Summary Summary of gene provided in NCBI Entrez 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 an
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs1207466199 TTTC>- Pathogenic Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1427062799 ->G Pathogenic Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567776490 C>- Pathogenic Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567776514 ->CACT Pathogenic Frameshift variant, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(108)
miRTarBase ID miRNA Experiments Reference
MIRT043709 hsa-miR-342-3p HITS-CLIP 19536157
MIRT725201 hsa-miR-136-3p HITS-CLIP 19536157
MIRT725200 hsa-miR-216b-3p HITS-CLIP 19536157
MIRT725198 hsa-miR-6760-3p HITS-CLIP 19536157
MIRT725199 hsa-miR-6785-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(38)
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 17026959, 19525939, 19726876, 24013648, 24567387, 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IDA 15242332
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603198 9688 ENSG00000177469
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q6NZI2
Protein name Caveolae-associated protein 1 (Cavin-1) (Polymerase I and transcript release factor)
Protein 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
PDB 9EG6 , 9EGN , 9EIU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15237 PTRF_SDPR 48 → 320 PTRF/SDPR family Family
Sequence
Sequence length 390
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    RNA Polymerase I Transcription Termination
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital Lipodystrophy Congenital generalized lipodystrophy type 4 rs1567782493, rs1567776514, rs1207466199, rs866504928, rs1427062799, rs1567776490, rs1567782465, rs1489315815 N/A
Show/Hide Unknown Diseases (11)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS
Show/Hide Text Mining Associations (41)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acanthosis Nigricans Associate 20684003
Arrhythmias Cardiac Associate 20300641, 20684003
Breast Neoplasms Associate 35589867
Carcinogenesis Inhibit 27203393
Carcinoma Hepatocellular Inhibit 37774837
Carcinoma Non Small Cell Lung Associate 22461895
Carcinoma Renal Cell Associate 36443833
Cell Transformation Neoplastic Inhibit 27203393
Cell Transformation Neoplastic Associate 9685730
Colorectal Neoplasms Inhibit 27203393