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PTBP1 polypyrimidine tract binding protein 1 [ Homo sapiens (human) ]

Gene ID: 5725, updated on 11-Aug-2014
Official Symbol
PTBP1provided by HGNC
Official Full Name
polypyrimidine tract binding protein 1provided by HGNC
Primary source
HGNC:9583
See related
Ensembl:ENSG00000011304; HPRD:02823; MIM:600693; Vega:OTTHUMG00000181789
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PTB; PTB2; PTB3; PTB4; pPTB; HNRPI; PTB-1; PTB-T; HNRNPI; HNRNP-I
Summary
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]
See PTBP1 in Epigenomics, MapViewer
Location:
19p13.3
Exon count:
16
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (797392..812327)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (797392..812327)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene mitotic spindle positioning Neighboring gene uncharacterized LOC101928450 Neighboring gene microRNA 4745 Neighboring gene microRNA 3187 Neighboring gene lipid phosphate phosphatase-related protein type 3 Neighboring gene azurocidin 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Rev rev hnRNP I binds to cis-acting repressive (CRS) sequences in HIV-1 RNA suggesting a role for this binding in influencing Rev function PubMed
Tat tat Polypyrimidine tract-binding protein (PTB) stimulates the binding of RNA Polymerase II and TRP-185 to HIV-1 TAR RNA, suggesting an interaction between PTB and HIV-1 Tat PubMed
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human polypyrimidine tract binding protein 1 (PTBP1) at amino acid residues 164-165 by the HIV-1 protease PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystem (from REACTOME)
    Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystemCo-transcriptional pre-mRNA splicing is not obligatory. Pre-mRNA splicing begins co-transcriptionally and often continues post-transcriptionally. Human genes contain an average of nine introns per ge...
  • mRNA Splicing, organism-specific biosystem (from REACTOME)
    mRNA Splicing, organism-specific biosystemThe process in which excision of introns from the primary transcript of messenger RNA (mRNA) is followed by ligation of the two exon termini exposed by removal of each intron, is called mRNA splicing...
  • mRNA Splicing - Major Pathway, organism-specific biosystem (from REACTOME)
    mRNA Splicing - Major Pathway, organism-specific biosystemThe splicing of pre-mRNA occurs within a large, very dynamic complex, designated the 'spliceosome'. The 50-60S spliceosomes are estimated to be 40-60 nm in diameter, and have molecular weights in the...
  • mRNA processing, organism-specific biosystem (from WikiPathways)
    mRNA processing, organism-specific biosystemThis process describes the conversion of precursor messenger RNA into mature messenger RNA (mRNA). The pre-mRNA molecule undergoes three main modifications. These modifications are 5' capping, 3' po...
Products Interactant Other Gene Complex Source Pubs Description

Homology

Clone Names

  • MGC8461, MGC10830

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding TAS
Traceable Author Statement
more info
PubMed 
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
 
poly-pyrimidine tract binding TAS
Traceable Author Statement
more info
PubMed 
pre-mRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
RNA splicing TAS
Traceable Author Statement
more info
 
alternative mRNA splicing, via spliceosome IEA
Inferred from Electronic Annotation
more info
 
gene expression TAS
Traceable Author Statement
more info
 
mRNA processing TAS
Traceable Author Statement
more info
PubMed 
mRNA splicing, via spliceosome TAS
Traceable Author Statement
more info
 
negative regulation of RNA splicing IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of muscle cell differentiation IDA
Inferred from Direct Assay
more info
 
regulation of alternative mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus TAS
Traceable Author Statement
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
Preferred Names
polypyrimidine tract-binding protein 1
Names
polypyrimidine tract-binding protein 1
hnRNP I
RNA-binding protein
57 kDa RNA-binding protein PPTB-1
heterogeneous nuclear ribonucleoprotein I
heterogeneous nuclear ribonucleoprotein polypeptide I
polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_002819.4NP_002810.1  polypyrimidine tract-binding protein 1 isoform a

    See proteins identical to NP_002810.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC006273, BC002397, BQ068293, X66975
    Consensus CDS
    CCDS42456.1
    UniProtKB/Swiss-Prot
    P26599
    Related
    ENSP00000349428, OTTHUMP00000267460, ENST00000356948, OTTHUMT00000457603
    Conserved Domains (5) summary
    TIGR01649
    Location:57557
    Blast Score: 1730
    hnRNP-L_PTB; hnRNP-L/PTB/hephaestus splicing factor family
    cd12693
    Location:181276
    Blast Score: 547
    RRM2_PTBP1_like; RNA recognition motif 2 in polypyrimidine tract-binding protein 1 (PTB or hnRNP I) and similar proteins
    cd12695
    Location:364456
    Blast Score: 488
    RRM3_PTBP1; RNA recognition motif 3 in vertebrate polypyrimidine tract-binding protein 1 (PTB)
    cd12777
    Location:59139
    Blast Score: 464
    RRM1_PTBP1; RNA recognition motif 1 in vertebrate polypyrimidine tract-binding protein 1 (PTB)
    cl17169
    Location:477557
    Blast Score: 422
    RRM_SF; RNA recognition motif (RRM) superfamily
  2. NM_031990.3NP_114367.1  polypyrimidine tract-binding protein 1 isoform b

    See proteins identical to NP_114367.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternative splice site resulting in it lacking 21 nt in the coding region compared to variant 1. Thus isoform b is 7 aa shorter than isoform a, but it maintains the same reading frame.
    Source sequence(s)
    AC006273, BC002397, BQ068293, X65371, X66975
    Consensus CDS
    CCDS45892.1
    UniProtKB/Swiss-Prot
    P26599
    Related
    ENSP00000408096, OTTHUMP00000267462, ENST00000394601, OTTHUMT00000457608
    Conserved Domains (5) summary
    TIGR01649
    Location:57550
    Blast Score: 1713
    hnRNP-L_PTB; hnRNP-L/PTB/hephaestus splicing factor family
    cd12693
    Location:181276
    Blast Score: 545
    RRM2_PTBP1_like; RNA recognition motif 2 in polypyrimidine tract-binding protein 1 (PTB or hnRNP I) and similar proteins
    cd12695
    Location:357449
    Blast Score: 487
    RRM3_PTBP1; RNA recognition motif 3 in vertebrate polypyrimidine tract-binding protein 1 (PTB)
    cd12777
    Location:59139
    Blast Score: 463
    RRM1_PTBP1; RNA recognition motif 1 in vertebrate polypyrimidine tract-binding protein 1 (PTB)
    cl17169
    Location:470550
    Blast Score: 421
    RRM_SF; RNA recognition motif (RRM) superfamily
  3. NM_031991.3NP_114368.1  polypyrimidine tract-binding protein 1 isoform c

    See proteins identical to NP_114368.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks 78 nt in the coding region compared to variant 1. Thus isoform c is 26 aa shorter than isoform a but it maintains the same reading frame.
    Source sequence(s)
    AC006273, BC002397, BQ068293, X60648, X66975
    Consensus CDS
    CCDS32859.1
    UniProtKB/Swiss-Prot
    P26599
    Related
    ENSP00000014112, OTTHUMP00000267461, ENST00000349038, OTTHUMT00000457605
    Conserved Domains (5) summary
    TIGR01649
    Location:57531
    Blast Score: 1695
    hnRNP-L_PTB; hnRNP-L/PTB/hephaestus splicing factor family
    cd12693
    Location:181276
    Blast Score: 541
    RRM2_PTBP1_like; RNA recognition motif 2 in polypyrimidine tract-binding protein 1 (PTB or hnRNP I) and similar proteins
    cd12695
    Location:338430
    Blast Score: 485
    RRM3_PTBP1; RNA recognition motif 3 in vertebrate polypyrimidine tract-binding protein 1 (PTB)
    cd12777
    Location:59139
    Blast Score: 461
    RRM1_PTBP1; RNA recognition motif 1 in vertebrate polypyrimidine tract-binding protein 1 (PTB)
    cl17169
    Location:451531
    Blast Score: 420
    RRM_SF; RNA recognition motif (RRM) superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    797392..812327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259597.1XP_005259654.1  

    Conserved Domains (5) summary
    TIGR01649
    Location:59559
    Blast Score: 1730
    hnRNP-L_PTB; hnRNP-L/PTB/hephaestus splicing factor family
    cd12693
    Location:183278
    Blast Score: 548
    RRM2_PTBP1_like; RNA recognition motif 2 in polypyrimidine tract-binding protein 1 (PTB or hnRNP I) and similar proteins
    cd12695
    Location:366458
    Blast Score: 489
    RRM3_PTBP1; RNA recognition motif 3 in vertebrate polypyrimidine tract-binding protein 1 (PTB)
    cd12777
    Location:61141
    Blast Score: 464
    RRM1_PTBP1; RNA recognition motif 1 in vertebrate polypyrimidine tract-binding protein 1 (PTB)
    cl17169
    Location:479559
    Blast Score: 422
    RRM_SF; RNA recognition motif (RRM) superfamily
  2. XM_005259598.1XP_005259655.1  

    Conserved Domains (5) summary
    TIGR01649
    Location:59533
    Blast Score: 1695
    hnRNP-L_PTB; hnRNP-L/PTB/hephaestus splicing factor family
    cd12693
    Location:183278
    Blast Score: 542
    RRM2_PTBP1_like; RNA recognition motif 2 in polypyrimidine tract-binding protein 1 (PTB or hnRNP I) and similar proteins
    cd12695
    Location:340432
    Blast Score: 485
    RRM3_PTBP1; RNA recognition motif 3 in vertebrate polypyrimidine tract-binding protein 1 (PTB)
    cd12777
    Location:61141
    Blast Score: 461
    RRM1_PTBP1; RNA recognition motif 1 in vertebrate polypyrimidine tract-binding protein 1 (PTB)
    cl17169
    Location:453533
    Blast Score: 420
    RRM_SF; RNA recognition motif (RRM) superfamily

RNA

  1. XR_244034.1 RNA Sequence

  2. XR_244035.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    566615..581055
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    796984..811921
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_175847.2: Suppressed sequence

    Description
    NM_175847.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.