Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Polymerase I and transcript release factor

Gene

PTRF

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. Required for the sequestration of mobile caveolin into immobile caveolae. Termination of transcription by RNA polymerase I involves pausing of transcription by TTF1, and the dissociation of the transcription complex, releasing pre-rRNA and RNA polymerase I from the template. PTRF is required for dissociation of the ternary transcription complex.3 Publications

GO - Molecular functioni

  • poly(A) RNA binding Source: UniProtKB
  • rRNA primary transcript binding Source: UniProtKB

GO - Biological processi

  • regulation of transcription, DNA-templated Source: UniProtKB-KW
  • termination of RNA polymerase I transcription Source: UniProtKB
  • transcription initiation from RNA polymerase I promoter Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation, Transcription termination

Keywords - Ligandi

RNA-binding, rRNA-binding

Enzyme and pathway databases

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

Names & Taxonomyi

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

Organism-specific databases

HGNCiHGNC:9688. PTRF.

Subcellular locationi

GO - Cellular componenti

  • caveola Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • cytosol Source: UniProtKB-SubCell
  • endoplasmic reticulum Source: UniProtKB-SubCell
  • membrane raft Source: UniProtKB
  • mitochondrion Source: UniProtKB
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
  • protein complex Source: MGI
Complete GO annotation...

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 – 390Polymerase I and transcript release factorAdd 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
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
Modified residuei167PhosphoserineCombined sources1
Modified residuei169PhosphoserineCombined sources1
Modified residuei171PhosphoserineBy similarity1
Modified residuei175PhosphoserineBy similarity1
Modified residuei202PhosphoserineCombined sources1
Modified residuei203PhosphoserineCombined sources1
Modified residuei300PhosphoserineCombined sources1
Modified residuei302PhosphothreonineCombined sources1
Modified residuei308PhosphotyrosineCombined sources1
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 (By similarity).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

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.

Interactioni

Subunit structurei

Interacts with RNA polymerase I and TTF1. Binds the 3' end of pre-rRNA. Interacts with transcription factor ZNF148 (By similarity). Interacts with LIPE in the adipocyte cytoplasm.By similarity1 Publication

Protein-protein interaction databases

BioGridi129767. 80 interactors.
DIPiDIP-48550N.
IntActiQ6NZI2. 52 interactors.
MINTiMINT-5005227.
STRINGi9606.ENSP00000349541.

Structurei

3D structure databases

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

Family & Domainsi

Coiled coil

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

Sequence similaritiesi

Belongs to the PTRF/SDPR family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

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

Family and domain databases

InterProiIPR026752. Cavin_fam.
IPR033297. PTRF.
[Graphical view]
PANTHERiPTHR15240. PTHR15240. 2 hits.
PTHR15240:SF3. PTHR15240:SF3. 2 hits.
PfamiPF15237. PTRF_SDPR. 2 hits.
[Graphical view]

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 rs35308568dbSNPEnsembl.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

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

3D structure databases

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

Protein-protein interaction databases

BioGridi129767. 80 interactors.
DIPiDIP-48550N.
IntActiQ6NZI2. 52 interactors.
MINTiMINT-5005227.
STRINGi9606.ENSP00000349541.

PTM databases

iPTMnetiQ6NZI2.
PhosphoSitePlusiQ6NZI2.
SwissPalmiQ6NZI2.

Polymorphism and mutation databases

BioMutaiPTRF.
DMDMi56749614.

Proteomic databases

EPDiQ6NZI2.
MaxQBiQ6NZI2.
PaxDbiQ6NZI2.
PeptideAtlasiQ6NZI2.
PRIDEiQ6NZI2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi284119.
DisGeNETi284119.
GeneCardsiPTRF.
HGNCiHGNC:9688. PTRF.
HPAiHPA049838.
MalaCardsiPTRF.
MIMi603198. gene.
613327. phenotype.
neXtProtiNX_Q6NZI2.
OpenTargetsiENSG00000177469.
Orphaneti228429. Generalized congenital lipodystrophy with myopathy.
PharmGKBiPA34031.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiPTRF. human.
GeneWikiiPTRF.
GenomeRNAii284119.
PROiQ6NZI2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000177469.
CleanExiHS_PTRF.
GenevisibleiQ6NZI2. HS.

Family and domain databases

InterProiIPR026752. Cavin_fam.
IPR033297. PTRF.
[Graphical view]
PANTHERiPTHR15240. PTHR15240. 2 hits.
PTHR15240:SF3. PTHR15240:SF3. 2 hits.
PfamiPF15237. PTRF_SDPR. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPTRF_HUMAN
AccessioniPrimary (citable) accession number: Q6NZI2
Secondary accession number(s): B2RAW7
, O00535, Q6GMY1, Q96H74, Q9BT85, Q9HAP4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: July 5, 2004
Last modified: November 30, 2016
This is version 132 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.