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Prpf3 Gene Detail
Summary
  • Symbol
    Prpf3
  • Name
    pre-mRNA processing factor 3
  • Synonyms
    3632413F13Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1918017
    NCBI Gene: 70767
  • Gene Overview
    MyGene.info: PRPF3
Location & Maps
more
  • Sequence Map
    Chr3:95830124-95855885 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      25762 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 41.25 cM, cytoband F2
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PRPF3, pre-mRNA processing factor 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PRPF3, pre-mRNA processing factor 3
    Orthology source: HomoloGene
  • Synonyms
    HPRP3, HPRP3P, PRP3, Prp3p, RP18, SNRNP90
  • Links
    NCBI Gene ID: 9129
    neXtProt AC: NX_O43395

  • Chr Location
    1q21.1; chr1:150321479-150353228 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 3447
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: PRPF3
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Prpf3 mouse models; 1 with human PRPF3 associations

Human Disease Mouse Models
       Retinitis Pigmentosa 18; RP18   OMIM: 601414 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 2 alleles in 2 genetic backgrounds
    15 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.
  • All Mutations and Alleles
    33
  • Chemically induced (other)
    1
  • Gene trapped
    27
  • Radiation induced
    1
  • Targeted
    4
  • Genomic Mutations
    2 involving Prpf3
  • Incidental Mutations
Mice homozygous for a null mutation display embryonic lethality.
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030680 VEGA Gene Model | MGI Sequence Detail 25762 C57BL/6J ±  kb
transcript OTTMUST00000075940 VEGA | MGI Sequence Detail 2732 Not Applicable  
polypeptide OTTMUSP00000039900 VEGA | MGI Sequence Detail 683 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    126 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000013278 U4/U6 small nuclear ribonucleoprotein Prp3
  • InterPro Domains
    IPR010541 Domain of unknown function DUF1115
    IPR013881 Pre-mRNA-splicing factor 3
    IPR002483 PWI domain
    IPR027104 U4/U6 small nuclear ribonucleoprotein Prp3
Molecular
Reagents
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  • All nucleic 66
    cDNA 65
    Primer pair 1

    Microarray probesets 3
References
more
  • Summaries
    All 37
    Developmental Gene Expression 2
    Diseases 2
    Gene Ontology 5
    Phenotypes 15
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:216059 Farkas MH, et al., Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium. Am J Pathol. 2014 Oct;184(10):2641-52

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory