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Prpf31 Gene Detail
Summary
  • Symbol
    Prpf31
  • Name
    pre-mRNA processing factor 31
  • Synonyms
    1500019O16Rik, 2810404O06Rik, PRP31, RP11
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916238
    NCBI Gene: 68988
Location & Maps
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Homology
more
  • Human Ortholog
    PRPF31, pre-mRNA processing factor 31
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PRPF31, pre-mRNA processing factor 31
    Orthology source: HomoloGene
  • Synonyms
    NY-BR-99, PRP31, RP11, SNRNP61
  • Links
    NCBI Gene ID: 26121
    neXtProt AC: NX_Q8WWY3

  • Chr Location
    19q13.42; chr19:54115376-54131719 (+)  GRCh38.p2

Human Diseases
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  • Diseases
    1 with Prpf31 mouse models; 1 with human PRPF31 associations

Human Disease Mouse Models
       Retinitis Pigmentosa 11; RP11   OMIM: 600138 View 1 model
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 3 genetic backgrounds
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    17
  • Gene trapped
    11
  • Targeted
    6
  • Incidental Mutations
Mice homozygous for a knock-in allele die prior to E10. Mice homozygous for a knock-out allele are not produced.
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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  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023399 VEGA Gene Model | MGI Sequence Detail 12502 C57BL/6J ±  kb
transcript OTTMUST00000056825 VEGA | MGI Sequence Detail 3144 Not Applicable  
polypeptide OTTMUSP00000027355 VEGA | MGI Sequence Detail 499 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    32 from dbSNP Build 137
Protein
Information
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Molecular
Reagents
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  • All nucleic 116
    cDNA 116

    Microarray probesets 5
Other
Accession IDs
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MGI:1917376, MGI:2142262
References
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  • Summaries
    All 33
    Developmental Gene Expression 1
    Diseases 2
    Gene Ontology 4
    Phenotypes 9
  • 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
Funding Information
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory