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Aliases for PTBP1 Gene

Aliases for PTBP1 Gene

  • Polypyrimidine Tract Binding Protein 1 2 3
  • Heterogeneous Nuclear Ribonucleoprotein I 2 3 4
  • PTB 3 4 6
  • Polypyrimidine Tract Binding Protein (Heterogeneous Nuclear Ribonucleoprotein I) 2 3
  • 57 KDa RNA-Binding Protein PPTB-1 3 4
  • HnRNP I 3 4
  • HNRNPI 3 6
  • Heterogeneous Nuclear Ribonucleoprotein Polypeptide I 3
  • Polypyrimidine Tract-Binding Protein 1 3
  • RNA-Binding Protein 3
  • HNRNP-I 3
  • HNRPI 3
  • PTB-1 3
  • PTB-T 3
  • PTB2 3
  • PTB3 3
  • PTB4 3
  • PPTB 3

External Ids for PTBP1 Gene

Previous Symbols for PTBP1 Gene

  • PTB

Summaries for PTBP1 Gene

Entrez Gene Summary for PTBP1 Gene

  • This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has four repeats of quasi-RNA recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the protein degradation ubiquitin-proteasome pathway. It may also promote the binding of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for PTBP1 Gene

PTBP1 (Polypyrimidine Tract Binding Protein 1) is a Protein Coding gene. Diseases associated with PTBP1 include human t-cell leukemia virus type 2. Among its related pathways are Translational Control and Gene Expression. GO annotations related to this gene include RNA binding and pre-mRNA binding. An important paralog of this gene is ENSG00000268083.

UniProtKB/Swiss-Prot for PTBP1 Gene

  • 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.

Gene Wiki entry for PTBP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTBP1 Gene

Genomics for PTBP1 Gene

Genomic Location for PTBP1 Gene

Start:
797,075 bp from pter
End:
812,327 bp from pter
Size:
15,253 bases
Orientation:
Plus strand

Genomic View for PTBP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PTBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTBP1 Gene

Regulatory Elements for PTBP1 Gene

Proteins for PTBP1 Gene

  • Protein details for PTBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26599-PTBP1_HUMAN
    Recommended name:
    Polypyrimidine tract-binding protein 1
    Protein Accession:
    P26599
    Secondary Accessions:
    • Q9BUQ0

    Protein attributes for PTBP1 Gene

    Size:
    531 amino acids
    Molecular mass:
    57221 Da
    Quaternary structure:
    • Monomer. Part of a ternary complex containing KHSRP, PTBP1, PTBP2 and HNRPH1. Interacts with RAVER1 and SFPQ.

    Three dimensional structures from OCA and Proteopedia for PTBP1 Gene

    Alternative splice isoforms for PTBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTBP1 Gene

Proteomics data for PTBP1 Gene at MOPED

Post-translational modifications for PTBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys134, Lys218, Lys259, Lys266, Lys410, Lys428, Lys482, Lys485, and Lys528

No data available for DME Specific Peptides for PTBP1 Gene

Domains for PTBP1 Gene

Gene Families for PTBP1 Gene

HGNC:
  • RBM :RNA binding motif (RRM) containing

Protein Domains for PTBP1 Gene

UniProtKB/Swiss-Prot:

PTBP1_HUMAN
Domain:
  • Contains 4 RRM (RNA recognition motif) domains.:
    • P26599
genes like me logo Genes that share domains with PTBP1: view

Function for PTBP1 Gene

Molecular function for PTBP1 Gene

UniProtKB/Swiss-Prot Function: 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.

Gene Ontology (GO) - Molecular Function for PTBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding TAS 1906036
GO:0005515 protein binding IPI 10653975
GO:0008187 poly-pyrimidine tract binding TAS 1906036
genes like me logo Genes that share ontologies with PTBP1: view

Phenotypes for PTBP1 Gene

MGI mutant phenotypes for PTBP1:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with PTBP1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for PTBP1 Gene

Localization for PTBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTBP1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PTBP1 Gene COMPARTMENTS Subcellular localization image for PTBP1 gene
Compartment Confidence
nucleus 5
cytosol 2
peroxisome 2
extracellular 1

Gene Ontology (GO) - Cellular Components for PTBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus TAS 1641332
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 20458337
genes like me logo Genes that share ontologies with PTBP1: view

Pathways for PTBP1 Gene

genes like me logo Genes that share pathways with PTBP1: view

Pathways by source for PTBP1 Gene

1 Cell Signaling Technology pathway for PTBP1 Gene
1 BioSystems pathway for PTBP1 Gene

Gene Ontology (GO) - Biological Process for PTBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000380 alternative mRNA splicing, via spliceosome IEA --
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IDA 16260624
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing TAS 1906036
GO:0008380 RNA splicing TAS --
genes like me logo Genes that share ontologies with PTBP1: view

Compounds for PTBP1 Gene

(5) Novoseek inferred chemical compound relationships for PTBP1 Gene

Compound -log(P) Hits PubMed IDs
pyrimidine 62.2 20
poly c 51 1
oligonucleotide 15.9 2
adenylate 10.8 1
atp 0 1
genes like me logo Genes that share compounds with PTBP1: view

Transcripts for PTBP1 Gene

Unigene Clusters for PTBP1 Gene

Polypyrimidine tract binding protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PTBP1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b ·
SP1: -
SP2: -
SP3:
SP4: -
SP5: - - - - -
SP6: - - -
SP7:
SP8: -
SP9:
SP10: -
SP11: - - -
SP12: - - -
SP13: - - -
SP14: -
SP15:
SP16:
SP17: - - -
SP18:
SP19: - - - - - - - - - - - - - - - - - -
SP20: - - -
SP21:

ExUns: 11c ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b · 15c ^ 16
SP1:
SP2: - -
SP3:
SP4: - -
SP5:
SP6: - -
SP7: - -
SP8:
SP9:
SP10:
SP11:
SP12: - -
SP13:
SP14:
SP15:
SP16:
SP17: - - -
SP18: - - -
SP19: - - - - -
SP20:
SP21:

Relevant External Links for PTBP1 Gene

GeneLoc Exon Structure for
PTBP1
ECgene alternative splicing isoforms for
PTBP1

Expression for PTBP1 Gene

mRNA expression in normal human tissues for PTBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PTBP1 Gene

SOURCE GeneReport for Unigene cluster for PTBP1 Gene Hs.172550

genes like me logo Genes that share expressions with PTBP1: view

Orthologs for PTBP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PTBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTBP1 36
  • 99.4 (n)
  • 100 (a)
PTBP1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PTBP1 36
  • 88.95 (n)
  • 97.18 (a)
PTBP1 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTBP1 36
  • 91.02 (n)
  • 98.2 (a)
PTBP1 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ptbp1 36
  • 86.43 (n)
  • 96.04 (a)
Ptbp1 16
Ptbp1 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PTBP1 37
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTBP1 37
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ptbp1 36
  • 87.35 (n)
  • 97.12 (a)
chicken
(Gallus gallus)
Aves PTBP1 36
  • 80.54 (n)
  • 93.92 (a)
PTBP1 37
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTBP1 37
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptbp1 36
  • 75.97 (n)
  • 88.14 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9470 36
zebrafish
(Danio rerio)
Actinopterygii ptbp1a 36
  • 73.64 (n)
  • 81.47 (a)
ptbp1a 37
  • 78 (a)
OneToMany
ptbp1b 37
  • 76 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003945 36
  • 59.71 (n)
  • 58.25 (a)
fruit fly
(Drosophila melanogaster)
Insecta heph 36
  • 59.66 (n)
  • 60.8 (a)
heph 37
  • 33 (a)
OneToMany
heph 38
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea ptb-1 36
  • 55.28 (n)
  • 52.92 (a)
ptb-1 37
  • 44 (a)
OneToMany
ptb-1 38
  • 49 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PTB3 36
  • 48.17 (n)
  • 41.08 (a)
rice
(Oryza sativa)
Liliopsida Os01g0867800 36
  • 49.92 (n)
  • 41.04 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 52 (a)
OneToMany
Species with no ortholog for PTBP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PTBP1 Gene

ENSEMBL:
Gene Tree for PTBP1 (if available)
TreeFam:
Gene Tree for PTBP1 (if available)

Paralogs for PTBP1 Gene

Paralogs for PTBP1 Gene

Selected SIMAP similar genes for PTBP1 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for PTBP1 Gene

genes like me logo Genes that share paralogs with PTBP1: view

Variants for PTBP1 Gene

Sequence variations from dbSNP and Humsavar for PTBP1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs6698 -- 811,223(+) GGGTG(A/G)GGGGG utr-variant-3-prime, nc-transcript-variant
rs8492 -- 811,230(+) GGGGT(C/T)ACACC utr-variant-3-prime, nc-transcript-variant
rs13169 -- 808,586(+) AAGCC(C/G)ATCCG reference, synonymous-codon, nc-transcript-variant
rs123698 -- 807,442(+) TGCCC(C/G)TCGAG intron-variant
rs351973 -- 795,457(+) GCACC(A/G)GACGC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PTBP1 Gene

Variant ID Type Subtype PubMed ID
nsv910109 CNV Loss 21882294
nsv470101 CNV Loss 18288195
dgv3508n71 CNV Loss 21882294
dgv3513n71 CNV Loss 21882294
dgv3516n71 CNV Loss 21882294
nsv910224 CNV Loss 21882294
nsv910260 CNV Loss 21882294
dgv3544n71 CNV Gain 21882294
nsv910269 CNV Gain+Loss 21882294
dgv3546n71 CNV Loss 21882294
dgv3547n71 CNV Loss 21882294
dgv3548n71 CNV Loss 21882294
dgv3549n71 CNV Loss 21882294
dgv3550n71 CNV Loss 21882294
nsv828353 CNV Loss 20364138
dgv3551n71 CNV Loss 21882294
dgv3552n71 CNV Loss 21882294
nsv910292 CNV Loss 21882294
dgv3553n71 CNV Loss 21882294
dgv3554n71 CNV Loss 21882294
nsv910310 CNV Loss 21882294
dgv3555n71 CNV Loss 21882294
nsv828354 CNV Gain 20364138
nsv458321 CNV Loss 19166990
dgv3556n71 CNV Loss 21882294
dgv3557n71 CNV Loss 21882294
dgv566n67 CNV Gain 20364138
nsv910318 CNV Loss 21882294
esv26343 CNV Gain 19812545

Relevant External Links for PTBP1 Gene

HapMap Linkage Disequilibrium report
PTBP1
Human Gene Mutation Database (HGMD)
PTBP1

Disorders for PTBP1 Gene

(1) University of Copenhagen DISEASES for PTBP1 Gene

(10) Novoseek inferred disease relationships for PTBP1 Gene

Disease -log(P) Hits PubMed IDs
foot-and-mouth disease 49.4 3
hepatitis c 42.2 9
leukemia t-cell 28.3 2
glioblastoma multiforme 13.4 2
astrocytoma 4.16 2

Relevant External Links for PTBP1

Genetic Association Database (GAD)
PTBP1
Human Genome Epidemiology (HuGE) Navigator
PTBP1
genes like me logo Genes that share disorders with PTBP1: view

No data available for UniProtKB/Swiss-Prot for PTBP1 Gene

Publications for PTBP1 Gene

  1. hnRNP I, the polypyrimidine tract-binding protein: distinct nuclear localization and association with hnRNAs. (PMID: 1641332) Ghetti A. … Dreyfuss G. (Nucleic Acids Res. 1992) 3 4 23
  2. Structure of tandem RNA recognition motifs from polypyrimidine tract binding protein reveals novel features of the RRM fold. (PMID: 10856256) Conte M.R. … Curry S. (EMBO J. 2000) 3 4 23
  3. Organization of the human gene encoding heterogeneous nuclear ribonucleoprotein type I (hnRNP I) and characterization of hnRNP I related pseudogene. (PMID: 11024286) Romanelli M.G. … Morandi C. (Gene 2000) 2 3 23
  4. Structure and RNA interactions of the N-terminal RRM domains of PTB. (PMID: 15341728) Simpson P.J. … Matthews S. (Structure 2004) 3 4 23
  5. Structure of the two most C-terminal RNA recognition motifs of PTB using segmental isotope labeling. (PMID: 16362043) Vitali F. … Allain F.H. (EMBO J. 2006) 3 4 23

Products for PTBP1 Gene

  • Addgene plasmids for PTBP1

Sources for PTBP1 Gene

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