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

    Gene ID: 5725, updated on 3-Dec-2024

    Summary

    Official Symbol
    PTBP1provided by HGNC
    Official Full Name
    polypyrimidine tract binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:9583
    See related
    Ensembl:ENSG00000011304 MIM:600693; AllianceGenome:HGNC:9583
    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]
    Expression
    Ubiquitous expression in placenta (RPKM 42.6), bone marrow (RPKM 39.6) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PTBP1 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (797452..812312)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (751931..766786)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (797452..812312)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928450 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:782349-782922 Neighboring gene long intergenic non-protein coding RNA 1836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:787176-787746 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:787747-788315 Neighboring gene CRISPRi-validated cis-regulatory element chr19.128 Neighboring gene CRISPRi-validated cis-regulatory element chr19.129 Neighboring gene hESC enhancers GRCh37_chr19:796571-797206 and GRCh37_chr19:797405-798290 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:798291-799174 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:803235-803757 Neighboring gene microRNA 4745 Neighboring gene phospholipid phosphatase related 3 Neighboring gene microRNA 3187 Neighboring gene azurocidin 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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 1 (PTBP1) is identified to interact with HIV-1 Tat mutant Nullbasic in HeLa cells by LC MS/MS PubMed
    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 Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • MGC8461, MGC10830

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables poly-pyrimidine tract binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables pre-mRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    located_in nucleolus TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    polypyrimidine tract-binding protein 1
    Names
    57 kDa RNA-binding protein PPTB-1
    RNA-binding protein
    heterogeneous nuclear ribonucleoprotein I
    heterogeneous nuclear ribonucleoprotein polypeptide I
    hnRNP I
    polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001411140.1NP_001398069.1  polypyrimidine tract-binding protein 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC006273
      Consensus CDS
      CCDS92475.1
      UniProtKB/TrEMBL
      A0A0U1RRM4, A0A7I2V621
      Related
      ENSP00000504829.1, ENST00000679114.1
    2. NM_002819.5NP_002810.1  polypyrimidine tract-binding protein 1 isoform a

      See identical proteins and their annotated locations for NP_002810.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC006273, BC002397, BQ068293
      Consensus CDS
      CCDS42456.1
      UniProtKB/Swiss-Prot
      P26599, Q9BUQ0
      UniProtKB/TrEMBL
      A0A0U1RRM4
      Related
      ENSP00000349428.4, ENST00000356948.11
      Conserved Domains (1) summary
      TIGR01649
      Location:57557
      hnRNP-L_PTB; hnRNP-L/PTB/hephaestus splicing factor family
    3. NM_031990.4NP_114367.1  polypyrimidine tract-binding protein 1 isoform b

      See identical proteins and their annotated locations for 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
      Consensus CDS
      CCDS45892.1
      UniProtKB/TrEMBL
      A0A0U1RRM4
      Related
      ENSP00000408096.1, ENST00000394601.8
      Conserved Domains (1) summary
      TIGR01649
      Location:57550
      hnRNP-L_PTB; hnRNP-L/PTB/hephaestus splicing factor family
    4. NM_031991.4NP_114368.1  polypyrimidine tract-binding protein 1 isoform c

      See identical proteins and their annotated locations for 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
      Consensus CDS
      CCDS32859.1
      UniProtKB/TrEMBL
      A0A0U1RRM4
      Related
      ENSP00000014112.5, ENST00000349038.8
      Conserved Domains (1) summary
      TIGR01649
      Location:57531
      hnRNP-L_PTB; hnRNP-L/PTB/hephaestus splicing factor family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      797452..812312
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005259598.3XP_005259655.1  polypyrimidine tract-binding protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005259655.1

      UniProtKB/TrEMBL
      A0A0U1RRM4
      Conserved Domains (5) summary
      cd12693
      Location:183278
      RRM2_PTBP1_like; RNA recognition motif 2 in polypyrimidine tract-binding protein 1 (PTB or hnRNP I) and similar proteins
      cd12695
      Location:340432
      RRM3_PTBP1; RNA recognition motif 3 in vertebrate polypyrimidine tract-binding protein 1 (PTB)
      cd12777
      Location:61141
      RRM1_PTBP1; RNA recognition motif 1 in vertebrate polypyrimidine tract-binding protein 1 (PTB)
      TIGR01649
      Location:59533
      hnRNP-L_PTB; hnRNP-L/PTB/hephaestus splicing factor family
      cl17169
      Location:453533
      RRM_SF; RNA recognition motif (RRM) superfamily
    2. XM_047439114.1XP_047295070.1  polypyrimidine tract-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A6Q8PEX4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      751931..766786
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321515.1XP_054177490.1  polypyrimidine tract-binding protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A0U1RRM4
    2. XM_054321516.1XP_054177491.1  polypyrimidine tract-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A6Q8PEX4

    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.