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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CAVIN1-related disorder Likely pathogenic rs2509875985 RCV003400389
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital generalized lipodystrophy Pathogenic rs2509876910 RCV003988442
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital generalized lipodystrophy type 4 Pathogenic; Likely pathogenic rs1427062799, rs1567776490, rs1567782465, rs1489315815, rs2509876602, rs2509863445, rs1567782493, rs1567776514, rs1207466199, rs866504928, rs199720089 RCV000006980
RCV000006981
RCV000006982
RCV000006983
RCV003237333
View all (6 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (18)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATOPIC ECZEMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (115)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acanthosis Nigricans Acanthosis Nigricans HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Arrhythmias Cardiac Cardiac arrhythmias Pubtator 20300641, 20684003 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 29977243
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 35589867 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 27203393 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37774837 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 36443833 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy BEFREE 30476128
★★★★★
★☆☆☆☆
Found in Text Mining only