CAVIN1 (caveolae associated protein 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 284119
Gene name Caveolae associated protein 1
Gene symbol CAVIN1
Synonyms (NCBI Gene)
CAVINCGL4FKSG13PTRFcavin-1
Chromosome 17
Chromosome location 17q21.2
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 an
SNPs SNP information provided by dbSNP.
4
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.
108
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603198 9688 ENSG00000177469
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
108
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CAVIN1-related disorder Likely pathogenic rs2509875985 RCV003400389
Congenital generalized lipodystrophy Pathogenic rs2509876910 RCV003988442
Congenital generalized lipodystrophy type 4 Pathogenic; Likely pathogenic rs1427062799, rs1567776490, rs1567782465, rs1489315815, rs2509876602, rs2509863445, rs1567782493, rs1567776514, rs1207466199, rs866504928, rs199720089 RCV000006980
RCV000006981
RCV000006982
RCV000006983
RCV003237333
RCV004555818
RCV000023262
RCV000023263
RCV000023264
RCV000023265
RCV001261601
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Monogenic diabetes Conflicting classifications of pathogenicity; Uncertain significance rs146799286, rs148239625, rs537998274, rs61729285, rs767832643, rs185645510 RCV001174430
RCV001174431
RCV000445481
RCV000664149
RCV001174404
RCV001174432
See cases Uncertain significance rs537998274 RCV003128402
Show/Hide Text Mining Associations (41)
Associations from Text MiningDisease 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