UniProtKB - Q6NZI2 (CAVN1_HUMAN)
Caveolae-associated protein 1
CAVIN1
Functioni
GO - Molecular functioni
- identical protein binding Source: IntAct
- RNA binding Source: UniProtKB
- rRNA primary transcript binding Source: UniProtKB
GO - Biological processi
- positive regulation of cell motility Source: UniProtKB
- protein secretion Source: Ensembl
- rRNA transcription Source: UniProtKB
- termination of RNA polymerase I transcription Source: UniProtKB
- transcription initiation from RNA polymerase I promoter Source: UniProtKB
Keywordsi
Molecular function | RNA-binding, rRNA-binding |
Biological process | Transcription, Transcription regulation, Transcription termination |
Enzyme and pathway databases
PathwayCommonsi | Q6NZI2 |
Reactomei | R-HSA-73863, RNA Polymerase I Transcription Termination |
Names & Taxonomyi
Protein namesi | Recommended name: Caveolae-associated protein 1ImportedAlternative name(s): Cavin-1 Polymerase I and transcript release factor |
Gene namesi | ORF Names:FKSG13 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:9688, CAVIN1 |
MIMi | 603198, gene |
neXtProti | NX_Q6NZI2 |
VEuPathDBi | HostDB:ENSG00000177469.12 |
Subcellular locationi
Endoplasmic reticulum
- Microsome 2 Publications
- Endoplasmic reticulum By similarity
Cytoplasm and Cytosol
- cytosol 1 Publication
Nucleus
- Nucleus 2 Publications
Plasma membrane
- Cell membrane 3 Publications
Mitochondrion
- Mitochondrion 2 Publications
Other locations
- caveola 3 Publications
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).By similarity1 Publication
Cytosol
- cytosol Source: UniProtKB-SubCell
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB-SubCell
Mitochondrion
- mitochondrion Source: UniProtKB
Nucleus
- nucleoplasm Source: Reactome
- nucleus Source: UniProtKB
Plasma Membrane
- caveola Source: UniProtKB
- plasma membrane Source: HPA
Other locations
- cytoplasm Source: UniProtKB
- intracellular membrane-bounded organelle Source: HPA
- membrane raft Source: UniProtKB
- protein-containing complex Source: MGI
Keywords - Cellular componenti
Cell membrane, Cytoplasm, Endoplasmic reticulum, Membrane, Microsome, Mitochondrion, NucleusPathology & Biotechi
Involvement in diseasei
Congenital generalized lipodystrophy 4 (CGL4)2 Publications
Keywords - Diseasei
Congenital generalized lipodystrophy, Diabetes mellitusOrganism-specific databases
DisGeNETi | 284119 |
MalaCardsi | CAVIN1 |
MIMi | 613327, phenotype |
OpenTargetsi | ENSG00000177469 |
Orphaneti | 528, Berardinelli-Seip congenital lipodystrophy |
PharmGKBi | PA34031 |
Miscellaneous databases
Pharosi | Q6NZI2, Tbio |
Genetic variation databases
BioMutai | CAVIN1 |
DMDMi | 56749614 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000097094 | 1 – 390 | Caveolae-associated protein 1Add BLAST | 390 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionine1 Publication | 1 | |
Modified residuei | 36 | Phosphoserine1 Publication | 1 | |
Modified residuei | 40 | Phosphoserine1 Publication | 1 | |
Modified residuei | 46 | PhosphoserineBy similarity | 1 | |
Cross-linki | 116 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 118 | PhosphoserineCombined sources | 1 | |
Cross-linki | 122 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 156 | PhosphotyrosineBy similarity | 1 | |
Cross-linki | 161 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources | ||
Cross-linki | 161 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Cross-linki | 165 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 167 | PhosphoserineCombined sources | 1 | |
Modified residuei | 169 | PhosphoserineCombined sources | 1 | |
Cross-linki | 170 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 171 | PhosphoserineBy similarity | 1 | |
Modified residuei | 175 | PhosphoserineBy similarity | 1 | |
Modified residuei | 202 | PhosphoserineCombined sources | 1 | |
Modified residuei | 203 | PhosphoserineCombined sources | 1 | |
Modified residuei | 300 | PhosphoserineCombined sources | 1 | |
Modified residuei | 302 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 308 | PhosphotyrosineCombined sources | 1 | |
Cross-linki | 326 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 365 | PhosphoserineCombined sources1 Publication | 1 | |
Modified residuei | 366 | PhosphoserineCombined sources1 Publication | 1 | |
Modified residuei | 379 | PhosphoserineCombined sources | 1 | |
Modified residuei | 387 | PhosphoserineCombined sources | 1 | |
Modified residuei | 389 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q6NZI2 |
jPOSTi | Q6NZI2 |
MassIVEi | Q6NZI2 |
MaxQBi | Q6NZI2 |
PaxDbi | Q6NZI2 |
PeptideAtlasi | Q6NZI2 |
PRIDEi | Q6NZI2 |
ProteomicsDBi | 66794 [Q6NZI2-1] 66795 [Q6NZI2-2] 66796 [Q6NZI2-3] |
PTM databases
iPTMneti | Q6NZI2 |
MetOSitei | Q6NZI2 |
PhosphoSitePlusi | Q6NZI2 |
SwissPalmi | Q6NZI2 |
Expressioni
Gene expression databases
Bgeei | ENSG00000177469, Expressed in adipose tissue of abdominal region and 245 other tissues |
Genevisiblei | Q6NZI2, HS |
Organism-specific databases
HPAi | ENSG00000177469, Low tissue specificity |
Interactioni
Subunit structurei
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).
By similarity4 PublicationsBinary interactionsi
Hide detailsQ6NZI2
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 129767, 185 interactors |
DIPi | DIP-48550N |
ELMi | Q6NZI2 |
IntActi | Q6NZI2, 106 interactors |
MINTi | Q6NZI2 |
STRINGi | 9606.ENSP00000349541 |
Miscellaneous databases
RNActi | Q6NZI2, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 98 | Required for homotrimerization and for interaction with CAVIN2 and CAVIN3By similarityAdd BLAST | 98 | |
Regioni | 52 – 62 | Nuclear export signalBy similarityAdd BLAST | 11 | |
Regioni | 53 – 75 | Leucine-zipper 1By similarityAdd BLAST | 23 | |
Regioni | 136 – 152 | Nuclear localization signalBy similarityAdd BLAST | 17 | |
Regioni | 166 – 186 | Leucine-zipper 2By similarityAdd BLAST | 21 | |
Regioni | 233 – 249 | Nuclear localization signalBy similarityAdd BLAST | 17 | |
Regioni | 257 – 297 | Leucine-zipper 3By similarityAdd BLAST | 41 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 199 – 282 | Sequence analysisAdd BLAST | 84 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Coiled coil, RepeatPhylogenomic databases
eggNOGi | ENOG502QV3D, Eukaryota |
GeneTreei | ENSGT00950000182910 |
HOGENOMi | CLU_039470_0_0_1 |
InParanoidi | Q6NZI2 |
OMAi | ESPEMHT |
OrthoDBi | 1060453at2759 |
PhylomeDBi | Q6NZI2 |
TreeFami | TF331031 |
Family and domain databases
InterProi | View protein in InterPro IPR033297, Cavin-1 IPR026752, Cavin_fam |
PANTHERi | PTHR15240, PTHR15240, 1 hit PTHR15240:SF3, PTHR15240:SF3, 1 hit |
Pfami | View protein in Pfam PF15237, PTRF_SDPR, 1 hit |
s (3)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEDPTLYIVE RPLPGYPDAE APEPSSAGAQ AAEEPSGAGS EELIKSDQVN
60 70 80 90 100
GVLVLSLLDK IIGAVDQIQL TQAQLEERQA EMEGAVQSIQ GELSKLGKAH
110 120 130 140 150
ATTSNTVSKL LEKVRKVSVN VKTVRGSLER QAGQIKKLEV NEAELLRRRN
160 170 180 190 200
FKVMIYQDEV KLPAKLSISK SLKESEALPE KEGEELGEGE RPEEDAAALE
210 220 230 240 250
LSSDEAVEVE EVIEESRAER IKRSGLRRVD DFKKAFSKEK MEKTKVRTRE
260 270 280 290 300
NLEKTRLKTK ENLEKTRHTL EKRMNKLGTR LVPAERREKL KTSRDKLRKS
310 320 330 340 350
FTPDHVVYAR SKTAVYKVPP FTFHVKKIRE GQVEVLKATE MVEVGADDDE
360 370 380 390
GGAERGEAGD LRRGSSPDVH ALLEITEESD AVLVDKSDSD
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 47 | D → V AA sequence (PubMed:15242332).Curated | 1 | |
Sequence conflicti | 213 | I → L AA sequence (PubMed:15242332).Curated | 1 | |
Sequence conflicti | 219 | E → K in AAG27093 (Ref. 1) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035982 | 14 | P → T in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_034416 | 193 | E → Q. Corresponds to variant dbSNP:rs35308568Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_051624 | 1 – 193 | MEDPT…GERPE → M in isoform 3. 1 PublicationAdd BLAST | 193 | |
Alternative sequenceiVSP_051625 | 96 – 185 | Missing in isoform 2. 1 PublicationAdd BLAST | 90 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF312393 mRNA Translation: AAG27093.1 AK314389 mRNA Translation: BAG37014.1 CH471152 Genomic DNA Translation: EAW60828.1 BC004295 mRNA Translation: AAH04295.1 BC008849 mRNA Translation: AAH08849.1 BC066123 mRNA Translation: AAH66123.1 BC073759 mRNA Translation: AAH73759.1 AF000421 mRNA Translation: AAC63404.1 |
CCDSi | CCDS11425.1 [Q6NZI2-1] |
RefSeqi | NP_036364.2, NM_012232.5 [Q6NZI2-1] |
Genome annotation databases
Ensembli | ENST00000357037; ENSP00000349541; ENSG00000177469 [Q6NZI2-1] |
GeneIDi | 284119 |
KEGGi | hsa:284119 |
UCSCi | uc002hzo.4, human [Q6NZI2-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF312393 mRNA Translation: AAG27093.1 AK314389 mRNA Translation: BAG37014.1 CH471152 Genomic DNA Translation: EAW60828.1 BC004295 mRNA Translation: AAH04295.1 BC008849 mRNA Translation: AAH08849.1 BC066123 mRNA Translation: AAH66123.1 BC073759 mRNA Translation: AAH73759.1 AF000421 mRNA Translation: AAC63404.1 |
CCDSi | CCDS11425.1 [Q6NZI2-1] |
RefSeqi | NP_036364.2, NM_012232.5 [Q6NZI2-1] |
3D structure databases
SMRi | Q6NZI2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 129767, 185 interactors |
DIPi | DIP-48550N |
ELMi | Q6NZI2 |
IntActi | Q6NZI2, 106 interactors |
MINTi | Q6NZI2 |
STRINGi | 9606.ENSP00000349541 |
PTM databases
iPTMneti | Q6NZI2 |
MetOSitei | Q6NZI2 |
PhosphoSitePlusi | Q6NZI2 |
SwissPalmi | Q6NZI2 |
Genetic variation databases
BioMutai | CAVIN1 |
DMDMi | 56749614 |
Proteomic databases
EPDi | Q6NZI2 |
jPOSTi | Q6NZI2 |
MassIVEi | Q6NZI2 |
MaxQBi | Q6NZI2 |
PaxDbi | Q6NZI2 |
PeptideAtlasi | Q6NZI2 |
PRIDEi | Q6NZI2 |
ProteomicsDBi | 66794 [Q6NZI2-1] 66795 [Q6NZI2-2] 66796 [Q6NZI2-3] |
Protocols and materials databases
Antibodypediai | 29228, 217 antibodies |
Genome annotation databases
Ensembli | ENST00000357037; ENSP00000349541; ENSG00000177469 [Q6NZI2-1] |
GeneIDi | 284119 |
KEGGi | hsa:284119 |
UCSCi | uc002hzo.4, human [Q6NZI2-1] |
Organism-specific databases
CTDi | 284119 |
DisGeNETi | 284119 |
GeneCardsi | CAVIN1 |
HGNCi | HGNC:9688, CAVIN1 |
HPAi | ENSG00000177469, Low tissue specificity |
MalaCardsi | CAVIN1 |
MIMi | 603198, gene 613327, phenotype |
neXtProti | NX_Q6NZI2 |
OpenTargetsi | ENSG00000177469 |
Orphaneti | 528, Berardinelli-Seip congenital lipodystrophy |
PharmGKBi | PA34031 |
VEuPathDBi | HostDB:ENSG00000177469.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QV3D, Eukaryota |
GeneTreei | ENSGT00950000182910 |
HOGENOMi | CLU_039470_0_0_1 |
InParanoidi | Q6NZI2 |
OMAi | ESPEMHT |
OrthoDBi | 1060453at2759 |
PhylomeDBi | Q6NZI2 |
TreeFami | TF331031 |
Enzyme and pathway databases
PathwayCommonsi | Q6NZI2 |
Reactomei | R-HSA-73863, RNA Polymerase I Transcription Termination |
Miscellaneous databases
BioGRID-ORCSi | 284119, 9 hits in 1004 CRISPR screens |
ChiTaRSi | PTRF, human |
GeneWikii | PTRF |
GenomeRNAii | 284119 |
Pharosi | Q6NZI2, Tbio |
PROi | PR:Q6NZI2 |
RNActi | Q6NZI2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000177469, Expressed in adipose tissue of abdominal region and 245 other tissues |
Genevisiblei | Q6NZI2, HS |
Family and domain databases
InterProi | View protein in InterPro IPR033297, Cavin-1 IPR026752, Cavin_fam |
PANTHERi | PTHR15240, PTHR15240, 1 hit PTHR15240:SF3, PTHR15240:SF3, 1 hit |
Pfami | View protein in Pfam PF15237, PTRF_SDPR, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CAVN1_HUMAN | |
Accessioni | Q6NZI2Primary (citable) accession number: Q6NZI2 Secondary accession number(s): B2RAW7 Q9HAP4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 21, 2004 |
Last sequence update: | July 5, 2004 | |
Last modified: | April 7, 2021 | |
This is version 165 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families