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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:79690502-79700269 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 39.72 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    11 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97791
 protein coding gene Chr10:79690261-79700605 (+)
129S1/SvImJ MGP_129S1SvImJ_G0017463
 protein coding gene Chr10:80410843-80419678 (+)
A/J MGP_AJ_G0017441
 protein coding gene Chr10:77608936-77619157 (+)
AKR/J MGP_AKRJ_G0017402
 protein coding gene Chr10:79722188-79732528 (+)
BALB/cJ MGP_BALBcJ_G0017403
 protein coding gene Chr10:77835019-77846075 (+)
C3H/HeJ MGP_C3HHeJ_G0017226
 protein coding gene Chr10:79826456-79837804 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017857
 protein coding gene Chr10:83184611-83195612 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015545
 protein coding gene Chr10:73834597-73844955 (+)
CAST/EiJ MGP_CASTEiJ_G0016793
 protein coding gene Chr10:80012293-80023135 (+)
CBA/J MGP_CBAJ_G0017198
 protein coding gene Chr10:86410948-86423881 (+)
DBA/2J MGP_DBA2J_G0017304
 protein coding gene Chr10:76823821-76834172 (+)
FVB/NJ MGP_FVBNJ_G0017298
 protein coding gene Chr10:76002426-76011913 (+)
LP/J MGP_LPJ_G0017375
 protein coding gene Chr10:80887098-80898949 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017324
 protein coding gene Chr10:88383895-88394177 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017898
 protein coding gene Chr10:79706105-79719961 (+)
PWK/PhJ MGP_PWKPhJ_G0016574
 protein coding gene Chr10:76685900-76696071 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016363
 protein coding gene Chr10:78682129-78691858 (+)
WSB/EiJ MGP_WSBEiJ_G0016853
 protein coding gene Chr10:79729874-79739709 (+)



Homology
more
  • Human Ortholog
    PTBP1, polypyrimidine tract binding protein 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PTBP1, polypyrimidine tract binding protein 1
  • 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; chr19:797075-812327 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 3 alleles in 3 genetic backgrounds
    4 images
    28 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
    41
  • GO References
    12
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
    881
  • Tissues
    112
  • cDNA Data
    708
  • Literature Summary
    26
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19205 NCBI Gene Model | MGI Sequence Detail 9768 C57BL/6J ±  kb
    transcript NM_001407387 RefSeq | MGI Sequence Detail 2947 ZRU/MplStud  
    polypeptide P17225 UniProt | EBI | MGI Sequence Detail 555 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 714
      Genomic 1
      cDNA 708
      Primer pair 5

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-13658, MGI:2143456
    References
    more
    • Summaries
      All 99
      Developmental Gene Expression 26
      Gene Ontology 12
      Phenotypes 28
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:334567 Liu H, et al., Endothelial deletion of PTBP1 disrupts ventricular chamber development. Nat Commun. 2023 Mar 31;14(1):1796
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory