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Protein

Polypyrimidine tract-binding protein 1

Gene

PTBP1

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

Functioni

Plays a role in pre-mRNA splicing and in the regulation of alternative splicing events. Activates exon skipping of its own pre-mRNA during muscle cell differentiation. Binds to the polypyrimidine tract of introns. May promote RNA looping when bound to two separate polypyrimidine tracts in the same pre-mRNA. May promote the binding of U2 snRNP to pre-mRNA. Cooperates with RAVER1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre-mRNA. Represses the splicing of MAPT/Tau exon 10 (PubMed:15009664). In case of infection by picornaviruses, binds to the viral internal ribosome entry site (IRES) and stimulates the IRES-mediated translation (PubMed:21518806).6 Publications

GO - Molecular functioni

  • poly-pyrimidine tract binding Source: ProtInc
  • pre-mRNA binding Source: UniProtKB
  • RNA binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionActivator, Repressor, RNA-binding
Biological processmRNA processing, mRNA splicing

Enzyme and pathway databases

ReactomeiR-HSA-6803529 FGFR2 alternative splicing
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA

Names & Taxonomyi

Protein namesi
Recommended name:
Polypyrimidine tract-binding protein 1
Short name:
PTB
Alternative name(s):
57 kDa RNA-binding protein PPTB-1
Heterogeneous nuclear ribonucleoprotein I
Short name:
hnRNP I
Gene namesi
Name:PTBP1
Synonyms:PTB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000011304.17
HGNCiHGNC:9583 PTBP1
MIMi600693 gene
neXtProtiNX_P26599

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi5725
OpenTargetsiENSG00000011304
PharmGKBiPA33934

Chemistry databases

ChEMBLiCHEMBL1293230

Polymorphism and mutation databases

BioMutaiPTBP1
DMDMi131528

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000817371 – 531Polypyrimidine tract-binding protein 1Add BLAST531

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1 Publication1
Modified residuei16PhosphoserineCombined sources1
Cross-linki65Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei127PhosphotyrosineCombined sources1
Modified residuei138PhosphothreonineCombined sources1
Modified residuei141PhosphoserineCombined sources1
Cross-linki218Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei433PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP26599
MaxQBiP26599
PaxDbiP26599
PeptideAtlasiP26599
PRIDEiP26599
ProteomicsDBi54354
54355 [P26599-2]
54356 [P26599-3]
TopDownProteomicsiP26599-1 [P26599-1]
P26599-2 [P26599-2]

2D gel databases

SWISS-2DPAGEiP26599

PTM databases

iPTMnetiP26599
PhosphoSitePlusiP26599
SwissPalmiP26599

Miscellaneous databases

PMAP-CutDBiP26599

Expressioni

Gene expression databases

BgeeiENSG00000011304 Expressed in 241 organ(s), highest expression level in embryo
CleanExiHS_PTBP1
ExpressionAtlasiP26599 baseline and differential
GenevisibleiP26599 HS

Organism-specific databases

HPAiCAB013507

Interactioni

Subunit structurei

Monomer. Part of a ternary complex containing KHSRP, PTBP1, PTBP2 and HNRPH1. Interacts with RAVER1 and SFPQ.3 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi111697, 208 interactors
CORUMiP26599
ELMiP26599
IntActiP26599, 57 interactors
MINTiP26599
STRINGi9606.ENSP00000349428

Structurei

Secondary structure

1531
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP26599
SMRiP26599
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP26599

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini59 – 143RRM 1PROSITE-ProRule annotationAdd BLAST85
Domaini184 – 260RRM 2PROSITE-ProRule annotationAdd BLAST77
Domaini337 – 411RRM 3PROSITE-ProRule annotationAdd BLAST75
Domaini454 – 529RRM 4PROSITE-ProRule annotationAdd BLAST76

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi316 – 323Poly-Ala8

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG1190 Eukaryota
ENOG410XPMZ LUCA
GeneTreeiENSGT00550000074508
HOGENOMiHOG000231699
HOVERGENiHBG069548
InParanoidiP26599
KOiK13218
OrthoDBiEOG091G0Z5R
PhylomeDBiP26599
TreeFamiTF319824

Family and domain databases

CDDicd12777 RRM1_PTBP1, 1 hit
cd12693 RRM2_PTBP1_like, 1 hit
cd12695 RRM3_PTBP1, 1 hit
Gene3Di3.30.70.330, 4 hits
InterProiView protein in InterPro
IPR006536 HnRNP-L/PTB
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR034798 PTBP1/2/3_RRM2
IPR035000 PTBP1_RRM1
IPR035001 PTBP1_RRM3
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
PfamiView protein in Pfam
PF00076 RRM_1, 2 hits
SMARTiView protein in SMART
SM00360 RRM, 4 hits
SUPFAMiSSF54928 SSF54928, 4 hits
TIGRFAMsiTIGR01649 hnRNP-L_PTB, 1 hit
PROSITEiView protein in PROSITE
PS50102 RRM, 4 hits

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 3 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P26599-1) [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
MDGIVPDIAV GTKRGSDELF STCVTNGPFI MSSNSASAAN GNDSKKFKGD
60 70 80 90 100
SRSAGVPSRV IHIRKLPIDV TEGEVISLGL PFGKVTNLLM LKGKNQAFIE
110 120 130 140 150
MNTEEAANTM VNYYTSVTPV LRGQPIYIQF SNHKELKTDS SPNQARAQAA
160 170 180 190 200
LQAVNSVQSG NLALAASAAA VDAGMAMAGQ SPVLRIIVEN LFYPVTLDVL
210 220 230 240 250
HQIFSKFGTV LKIITFTKNN QFQALLQYAD PVSAQHAKLS LDGQNIYNAC
260 270 280 290 300
CTLRIDFSKL TSLNVKYNND KSRDYTRPDL PSGDSQPSLD QTMAAAFGLS
310 320 330 340 350
VPNVHGALAP LAIPSAAAAA AAAGRIAIPG LAGAGNSVLL VSNLNPERVT
360 370 380 390 400
PQSLFILFGV YGDVQRVKIL FNKKENALVQ MADGNQAQLA MSHLNGHKLH
410 420 430 440 450
GKPIRITLSK HQNVQLPREG QEDQGLTKDY GNSPLHRFKK PGSKNFQNIF
460 470 480 490 500
PPSATLHLSN IPPSVSEEDL KVLFSSNGGV VKGFKFFQKD RKMALIQMGS
510 520 530
VEEAVQALID LHNHDLGENH HLRVSFSKST I
Length:531
Mass (Da):57,221
Last modified:August 1, 1992 - v1
Checksum:iBE12D5EA21537BED
GO
Isoform 2 (identifier: P26599-2) [UniParc]FASTAAdd to basket
Also known as: PTB2

The sequence of this isoform differs from the canonical sequence as follows:
     297-297: F → FASPYAGAGFPPTFAIPQAA

Show »
Length:550
Mass (Da):59,037
Checksum:i70CB96D0530CA091
GO
Isoform 3 (identifier: P26599-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     297-297: F → FGAPGIISASPYAGAGFPPTFAIPQAA

Show »
Length:557
Mass (Da):59,633
Checksum:iDAFE52BAC0E4BE5C
GO

Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A6NLN1A6NLN1_HUMAN
Polypyrimidine tract binding protei...
PTBP1 hCG_20560
527Annotation score:
A0A0D9SF20A0A0D9SF20_HUMAN
Polypyrimidine tract binding protei...
PTBP1 hCG_20560
197Annotation score:
A0A0U1RRM4A0A0U1RRM4_HUMAN
Polypyrimidine tract-binding protei...
PTBP1
588Annotation score:
K7EKJ7K7EKJ7_HUMAN
Polypyrimidine tract-binding protei...
PTBP1
237Annotation score:
K7EK45K7EK45_HUMAN
Polypyrimidine tract-binding protei...
PTBP1
256Annotation score:
A0A087WU68A0A087WU68_HUMAN
Polypyrimidine tract-binding protei...
PTBP1
227Annotation score:
K7ES59K7ES59_HUMAN
Polypyrimidine tract-binding protei...
PTBP1
149Annotation score:
A0A087WUW5A0A087WUW5_HUMAN
Polypyrimidine tract-binding protei...
PTBP1
81Annotation score:
K7ELW5K7ELW5_HUMAN
Polypyrimidine tract-binding protei...
PTBP1
105Annotation score:
K7EKX4K7EKX4_HUMAN
Polypyrimidine tract-binding protei...
PTBP1
56Annotation score:
There is more potential isoformShow all

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_005802297F → FASPYAGAGFPPTFAIPQAA in isoform 2. Curated1
Alternative sequenceiVSP_043649297F → FGAPGIISASPYAGAGFPPT FAIPQAA in isoform 3. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X62006 mRNA Translation: CAA43973.1
X65371 mRNA Translation: CAA46443.1
X65372 mRNA Translation: CAA46444.1
X60648 mRNA Translation: CAA43056.1
X66975 mRNA Translation: CAA47386.1
BT006819 mRNA Translation: AAP35465.1
AC006273 Genomic DNA Translation: AAC99798.1
CH471242 Genomic DNA Translation: EAW61154.1
BC002397 mRNA Translation: AAH02397.1
BC004383 mRNA Translation: AAH04383.1
BC013694 mRNA Translation: AAH13694.1
CCDSiCCDS32859.1 [P26599-1]
CCDS42456.1 [P26599-3]
CCDS45892.1 [P26599-2]
PIRiS23016
RefSeqiNP_002810.1, NM_002819.4 [P26599-3]
NP_114367.1, NM_031990.3 [P26599-2]
NP_114368.1, NM_031991.3 [P26599-1]
UniGeneiHs.172550

Genome annotation databases

EnsembliENST00000349038; ENSP00000014112; ENSG00000011304 [P26599-1]
ENST00000356948; ENSP00000349428; ENSG00000011304 [P26599-3]
ENST00000394601; ENSP00000408096; ENSG00000011304 [P26599-2]
GeneIDi5725
KEGGihsa:5725
UCSCiuc002lpp.3 human [P26599-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X62006 mRNA Translation: CAA43973.1
X65371 mRNA Translation: CAA46443.1
X65372 mRNA Translation: CAA46444.1
X60648 mRNA Translation: CAA43056.1
X66975 mRNA Translation: CAA47386.1
BT006819 mRNA Translation: AAP35465.1
AC006273 Genomic DNA Translation: AAC99798.1
CH471242 Genomic DNA Translation: EAW61154.1
BC002397 mRNA Translation: AAH02397.1
BC004383 mRNA Translation: AAH04383.1
BC013694 mRNA Translation: AAH13694.1
CCDSiCCDS32859.1 [P26599-1]
CCDS42456.1 [P26599-3]
CCDS45892.1 [P26599-2]
PIRiS23016
RefSeqiNP_002810.1, NM_002819.4 [P26599-3]
NP_114367.1, NM_031990.3 [P26599-2]
NP_114368.1, NM_031991.3 [P26599-1]
UniGeneiHs.172550

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1QM9NMR-A335-531[»]
1SJQNMR-A55-147[»]
1SJRNMR-A147-301[»]
2AD9NMR-A49-146[»]
2ADBNMR-A172-298[»]
2ADCNMR-A324-531[»]
2EVZNMR-A324-531[»]
2N3ONMR-A41-163[»]
3ZZYX-ray1.40A/B156-285[»]
3ZZZX-ray1.55A/B156-285[»]
ProteinModelPortaliP26599
SMRiP26599
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111697, 208 interactors
CORUMiP26599
ELMiP26599
IntActiP26599, 57 interactors
MINTiP26599
STRINGi9606.ENSP00000349428

Chemistry databases

ChEMBLiCHEMBL1293230

PTM databases

iPTMnetiP26599
PhosphoSitePlusiP26599
SwissPalmiP26599

Polymorphism and mutation databases

BioMutaiPTBP1
DMDMi131528

2D gel databases

SWISS-2DPAGEiP26599

Proteomic databases

EPDiP26599
MaxQBiP26599
PaxDbiP26599
PeptideAtlasiP26599
PRIDEiP26599
ProteomicsDBi54354
54355 [P26599-2]
54356 [P26599-3]
TopDownProteomicsiP26599-1 [P26599-1]
P26599-2 [P26599-2]

Protocols and materials databases

DNASUi5725
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000349038; ENSP00000014112; ENSG00000011304 [P26599-1]
ENST00000356948; ENSP00000349428; ENSG00000011304 [P26599-3]
ENST00000394601; ENSP00000408096; ENSG00000011304 [P26599-2]
GeneIDi5725
KEGGihsa:5725
UCSCiuc002lpp.3 human [P26599-1]

Organism-specific databases

CTDi5725
DisGeNETi5725
EuPathDBiHostDB:ENSG00000011304.17
GeneCardsiPTBP1
H-InvDBiHIX0137476
HGNCiHGNC:9583 PTBP1
HPAiCAB013507
MIMi600693 gene
neXtProtiNX_P26599
OpenTargetsiENSG00000011304
PharmGKBiPA33934
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1190 Eukaryota
ENOG410XPMZ LUCA
GeneTreeiENSGT00550000074508
HOGENOMiHOG000231699
HOVERGENiHBG069548
InParanoidiP26599
KOiK13218
OrthoDBiEOG091G0Z5R
PhylomeDBiP26599
TreeFamiTF319824

Enzyme and pathway databases

ReactomeiR-HSA-6803529 FGFR2 alternative splicing
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA

Miscellaneous databases

ChiTaRSiPTBP1 human
EvolutionaryTraceiP26599
GeneWikiiPTBP1
GenomeRNAii5725
PMAP-CutDBiP26599
PROiPR:P26599
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000011304 Expressed in 241 organ(s), highest expression level in embryo
CleanExiHS_PTBP1
ExpressionAtlasiP26599 baseline and differential
GenevisibleiP26599 HS

Family and domain databases

CDDicd12777 RRM1_PTBP1, 1 hit
cd12693 RRM2_PTBP1_like, 1 hit
cd12695 RRM3_PTBP1, 1 hit
Gene3Di3.30.70.330, 4 hits
InterProiView protein in InterPro
IPR006536 HnRNP-L/PTB
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR034798 PTBP1/2/3_RRM2
IPR035000 PTBP1_RRM1
IPR035001 PTBP1_RRM3
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
PfamiView protein in Pfam
PF00076 RRM_1, 2 hits
SMARTiView protein in SMART
SM00360 RRM, 4 hits
SUPFAMiSSF54928 SSF54928, 4 hits
TIGRFAMsiTIGR01649 hnRNP-L_PTB, 1 hit
PROSITEiView protein in PROSITE
PS50102 RRM, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiPTBP1_HUMAN
AccessioniPrimary (citable) accession number: P26599
Secondary accession number(s): Q9BUQ0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: August 1, 1992
Last modified: November 7, 2018
This is version 213 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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