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Ptbp1 Gene Detail
Summary
  • Symbol
    Ptbp1
  • Name
    polypyrimidine tract binding protein 1
  • Synonyms
    hnRNP I, Ptb
  • Feature Type
    protein coding gene
  • IDs
    MGI:97791
    NCBI Gene: 19205
  • Gene Overview
    MyGene.info: PTBP1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr10:79854427-79864771 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      10345 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 39.72 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    PTBP1, polypyrimidine tract binding protein 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    PTBP1, polypyrimidine tract binding protein 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HNRNPI, HNRNP-I, HNRPI, pPTB, PTB, PTB-1, PTB2, PTB3, PTB4, PTB-T
  • Links
    NCBI Gene ID: 5725
    neXtProt AC: NX_P26599
    UniProt: P26599

  • Chr Location
    19p13.3; chr19:797392-812327 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 49188
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;2 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: PTBP1
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 3 alleles in 3 genetic backgrounds
    4 images
    19 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele die before E6.5. Mice homozygous for a conditional allele activated in neuronal stem cells (NSCs) exhibit premature death, and non-obstructive hydrocephaly with loss of ependymal cells due to precocious NSC differentiation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000035444 VEGA Gene Model | MGI Sequence Detail 10345 C57BL/6J ±  kb
    transcript OTTMUST00000090655 VEGA | MGI Sequence Detail 3110 Not Applicable  
    polypeptide OTTMUSP00000049771 VEGA | MGI Sequence Detail 555 Not Applicable  
    For the selected sequence
    Polymorphisms
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    • SNPs within 2kb
      14 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      21 Sequences
    • InterPro Domains
      IPR006536 HnRNP-L/PTB
      IPR012677 Nucleotide-binding alpha-beta plait domain superfamily
      IPR034798 Polypyrimidine tract-binding protein1/2/3, RNA recognition motif 2
      IPR035000 PTBP1, RNA recognition motif 1
      IPR035001 PTBP1, RNA recognition motif 3
      IPR035979 RNA-binding domain superfamily
      IPR000504 RNA recognition motif domain
    Molecular
    Reagents
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    • All nucleic 712
      Genomic 1
      cDNA 708
      Primer pair 3

      Microarray probesets 4
    Other
    Accession IDs
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    MGD-MRK-13658, MGI:2143456
    References
    more
    • Summaries
      All 75
      Developmental Gene Expression 19
      Gene Ontology 8
      Phenotypes 19
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:241364 Jin Z, et al., hnRNP I regulates neonatal immune adaptation and prevents colitis and colorectal cancer. PLoS Genet. 2017 Mar;13(3):e1006672

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory