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Protein

Caveolae-associated protein 1

Gene

CAVIN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).By similarity3 Publications

GO - Molecular functioni

  • RNA binding Source: UniProtKB
  • rRNA primary transcript binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionRNA-binding, rRNA-binding
Biological processTranscription, Transcription regulation, Transcription termination

Enzyme and pathway databases

ReactomeiR-HSA-73863. RNA Polymerase I Transcription Termination.

Names & Taxonomyi

Protein namesi
Recommended name:
Caveolae-associated protein 1Imported
Alternative name(s):
Cavin-1
Polymerase I and transcript release factor
Gene namesi
Name:CAVIN1Imported
Synonyms:PTRF
ORF Names:FKSG13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:9688. CAVIN1.

Subcellular locationi

GO - Cellular componenti

  • caveola Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • cytosol Source: UniProtKB-SubCell
  • endoplasmic reticulum Source: UniProtKB-SubCell
  • intracellular membrane-bounded organelle Source: HPA
  • membrane raft Source: UniProtKB
  • mitochondrion Source: UniProtKB
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
  • plasma membrane Source: HPA
  • protein complex Source: MGI

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Endoplasmic reticulum, Membrane, Microsome, Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

Congenital generalized lipodystrophy 4 (CGL4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613327

Keywords - Diseasei

Congenital generalized lipodystrophy, Diabetes mellitus

Organism-specific databases

DisGeNETi284119.
MalaCardsiPTRF.
MIMi613327. phenotype.
OpenTargetsiENSG00000177469.
Orphaneti228429. Generalized congenital lipodystrophy with myopathy.
PharmGKBiPA34031.

Polymorphism and mutation databases

BioMutaiPTRF.
DMDMi56749614.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000970941 – 390Caveolae-associated protein 1Add BLAST390

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionine1 Publication1
Modified residuei36Phosphoserine1 Publication1
Modified residuei40Phosphoserine1 Publication1
Modified residuei46PhosphoserineBy similarity1
Cross-linki116Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei118PhosphoserineCombined sources1
Cross-linki122Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei156PhosphotyrosineBy similarity1
Cross-linki161Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources
Cross-linki161Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki165Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei167PhosphoserineCombined sources1
Modified residuei169PhosphoserineCombined sources1
Cross-linki170Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei171PhosphoserineBy similarity1
Modified residuei175PhosphoserineBy similarity1
Modified residuei202PhosphoserineCombined sources1
Modified residuei203PhosphoserineCombined sources1
Modified residuei300PhosphoserineCombined sources1
Modified residuei302PhosphothreonineCombined sources1
Modified residuei308PhosphotyrosineCombined sources1
Cross-linki326Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei365PhosphoserineCombined sources1 Publication1
Modified residuei366PhosphoserineCombined sources1 Publication1
Modified residuei379PhosphoserineCombined sources1
Modified residuei387PhosphoserineCombined sources1
Modified residuei389PhosphoserineCombined sources1

Post-translational modificationi

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.By similarity
Five truncated forms are found in the caveolae. These are thought to be the result of proteolysis and may be phosphorylation-dependent.1 Publication
Monoubiquitinated.By similarity

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ6NZI2.
MaxQBiQ6NZI2.
PaxDbiQ6NZI2.
PeptideAtlasiQ6NZI2.
PRIDEiQ6NZI2.

PTM databases

iPTMnetiQ6NZI2.
PhosphoSitePlusiQ6NZI2.
SwissPalmiQ6NZI2.

Expressioni

Gene expression databases

BgeeiENSG00000177469.
CleanExiHS_PTRF.
GenevisibleiQ6NZI2. HS.

Organism-specific databases

HPAiHPA049838.
HPA074213.

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 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
TSGA10IPQ3SY004EBI-2559016,EBI-10241197

Protein-protein interaction databases

BioGridi129767. 82 interactors.
DIPiDIP-48550N.
ELMiQ6NZI2.
IntActiQ6NZI2. 56 interactors.
MINTiMINT-5005227.
STRINGi9606.ENSP00000349541.

Structurei

3D structure databases

ProteinModelPortaliQ6NZI2.
SMRiQ6NZI2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 98Required for homotrimerization and for interaction with CAVIN2 and CAVIN3By similarityAdd BLAST98
Regioni52 – 62Nuclear export signalBy similarityAdd BLAST11
Regioni53 – 75Leucine-zipper 1By similarityAdd BLAST23
Regioni136 – 152Nuclear localization signalBy similarityAdd BLAST17
Regioni166 – 186Leucine-zipper 2By similarityAdd BLAST21
Regioni233 – 249Nuclear localization signalBy similarityAdd BLAST17
Regioni257 – 297Leucine-zipper 3By similarityAdd BLAST41

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili199 – 282Sequence analysisAdd BLAST84

Domaini

The leucine-zipper domain 1 is essential for its localization in the caveolae.By similarity

Sequence similaritiesi

Belongs to the CAVIN family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IV8W. Eukaryota.
ENOG410XT47. LUCA.
GeneTreeiENSGT00530000063058.
HOVERGENiHBG056807.
InParanoidiQ6NZI2.
KOiK19387.
OMAiMIYQDEV.
OrthoDBiEOG091G09Y1.
PhylomeDBiQ6NZI2.
TreeFamiTF331031.

Family and domain databases

InterProiView protein in InterPro
IPR026752. Cavin_fam.
IPR033297. PTRF.
PANTHERiPTHR15240. PTHR15240. 1 hit.
PTHR15240:SF12. PTHR15240:SF12. 1 hit.
PfamiView protein in Pfam
PF15237. PTRF_SDPR. 2 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1Curated (identifier: Q6NZI2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:390
Mass (Da):43,476
Last modified:July 5, 2004 - v1
Checksum:iE37945A9C9E819D4
GO
Isoform 2Curated (identifier: Q6NZI2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     96-185: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:300
Mass (Da):33,362
Checksum:i5C2646922C2ACD9F
GO
Isoform 3Curated (identifier: Q6NZI2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-193: MEDPTLYIVE...EELGEGERPE → M

Note: No experimental confirmation available.Curated
Show »
Length:198
Mass (Da):22,597
Checksum:i4822DAA1E67049D4
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti47D → V AA sequence (PubMed:15242332).Curated1
Sequence conflicti213I → L AA sequence (PubMed:15242332).Curated1
Sequence conflicti219E → K in AAG27093 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03598214P → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_034416193E → Q. Corresponds to variant dbSNP:rs35308568Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0516241 – 193MEDPT…GERPE → M in isoform 3. 1 PublicationAdd BLAST193
Alternative sequenceiVSP_05162596 – 185Missing in isoform 2. 1 PublicationAdd BLAST90

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.
CCDSiCCDS11425.1. [Q6NZI2-1]
RefSeqiNP_036364.2. NM_012232.5. [Q6NZI2-1]
UniGeneiHs.437191.

Genome annotation databases

EnsembliENST00000357037; ENSP00000349541; ENSG00000177469. [Q6NZI2-1]
GeneIDi284119.
KEGGihsa:284119.
UCSCiuc002hzo.4. human. [Q6NZI2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCAVN1_HUMAN
AccessioniPrimary (citable) accession number: Q6NZI2
Secondary accession number(s): B2RAW7
, O00535, Q6GMY1, Q96H74, Q9BT85, Q9HAP4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: July 5, 2004
Last modified: August 30, 2017
This is version 137 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families