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Prpf8 Gene Detail
Summary
  • Symbol
    Prpf8
  • Name
    pre-mRNA processing factor 8
  • Synonyms
    D11Bwg0410e, DBF3/PRP8, Prp8, Sfprp8l
  • Feature Type
    protein coding gene
  • IDs
    MGI:2179381
    NCBI Gene: 192159
  • Gene Overview
    MyGene.info: PRPF8
Location & Maps
more
  • Sequence Map
    Chr11:75486816-75509449 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      22634 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 45.92 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    PRPF8, pre-mRNA processing factor 8
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PRPF8, pre-mRNA processing factor 8
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HPRP8, PRP8, PRPC8, RP13, SNRNP220
  • Links
    NCBI Gene ID: 10594
    neXtProt AC: NX_Q6P2Q9

  • Chr Location
    17p13.3; chr17:1650629-1684882 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Prpf8 mouse models; 1 with human PRPF8 associations

Human Disease Mouse Models
       Retinitis Pigmentosa 13; RP13   OMIM: 600059 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    17 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
    20
  • Chemically induced (other)
    1
  • Gene trapped
    14
  • Targeted
    5
  • Genomic Mutations
    2 involving Prpf8
  • Incidental Mutations
Mice that are either heterozygous or homozygous for a knock-in allele exhibit abnormal retinal pigment epithelium morphology and late-onset retinal degeneration. These changes are more severe in homozygous mutant mice.
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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006208 VEGA Gene Model | MGI Sequence Detail 22634 C57BL/6J ±  kb
transcript OTTMUST00000014002 VEGA | MGI Sequence Detail 7249 Not Applicable  
polypeptide OTTMUSP00000006504 VEGA | MGI Sequence Detail 2335 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    83 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000013288 pre-mRNA-processing-splicing factor 8
  • InterPro Domains
    IPR000555 JAB1/MPN/MOV34 metalloenzyme domain
    IPR027652 Pre-mRNA-processing-splicing factor 8
    IPR019581 Pre-mRNA-processing-splicing factor 8, U5-snRNA-binding
    IPR019580 Pre-mRNA-processing-splicing factor 8, U6-snRNA-binding
    IPR012591 PRO8NT domain
    IPR012592 PROCN domain
    IPR012984 PROCT domain
    IPR021983 PRP8 domain IV core
    IPR012337 Ribonuclease H-like domain
    IPR019582 RNA recognition motif, spliceosomal PrP8
Molecular
Reagents
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  • All nucleic 534
    Genomic 2
    cDNA 530
    Primer pair 2

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-34064, MGI:106371, MGI:1194893, MGI:2144394
References
more
  • Summaries
    All 44
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 6
    Phenotypes 17
  • Earliest
    J:40754 Hamilton BA, et al., The vibrator mutation causes neurodegeneration via reduced expression of PITP alpha: positional complementation cloning and extragenic suppression. Neuron. 1997 May;18(5):711-22
  • Latest
    J:222460 Tenin G, et al., Erbb2 is required for cardiac atrial electrical activity during development. PLoS One. 2014;9(9):e107041

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
06/15/2016
MGI 6.04
The Jackson Laboratory