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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:75377642-75400275 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 45.92 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    637 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2179381
 protein coding gene Chr11:75377603-75400275 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018714
 protein coding gene Chr11:76238001-76262625 (+)
A/J MGP_AJ_G0018680
 protein coding gene Chr11:73402547-73425981 (+)
AKR/J MGP_AKRJ_G0018650
 protein coding gene Chr11:75624813-75651267 (+)
BALB/cJ MGP_BALBcJ_G0018654
 protein coding gene Chr11:73775533-73798780 (+)
C3H/HeJ MGP_C3HHeJ_G0018467
 protein coding gene Chr11:75641258-75665698 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019105
 protein coding gene Chr11:78635626-78674719 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016740
 protein coding gene Chr11:70415663-70439292 (+)
CAST/EiJ MGP_CASTEiJ_G0018021
 protein coding gene Chr11:76036271-76060292 (+)
CBA/J MGP_CBAJ_G0018437
 protein coding gene Chr11:82082619-82110012 (+)
DBA/2J MGP_DBA2J_G0018546
 protein coding gene Chr11:73006839-73030236 (+)
FVB/NJ MGP_FVBNJ_G0018536
 protein coding gene Chr11:72567387-72590787 (+)
LP/J MGP_LPJ_G0018617
 protein coding gene Chr11:76824083-76849326 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018562
 protein coding gene Chr11:82640219-82667889 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019145
 protein coding gene Chr11:75834053-75858746 (+)
PWK/PhJ MGP_PWKPhJ_G0017792
 protein coding gene Chr11:73704777-73728141 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017583
 protein coding gene Chr11:75384848-75407828 (+)
WSB/EiJ MGP_WSBEiJ_G0018074
 protein coding gene Chr11:75641033-75665431 (+)



Homology
more
  • Human Ortholog
    PRPF8, pre-mRNA processing factor 8
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PRPF8, pre-mRNA processing factor 8
  • Synonyms
    HPRP8, PRP8, PRPC8, RP13, SNRNP220
  • Links
    NCBI Gene ID: 10594
    neXtProt AC: NX_Q6P2Q9
    UniProt: Q6P2Q9

  • Chr Location
    17p13.3; chr17:1650629-1684867 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Prpf8 mouse models; 2 with human PRPF8 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
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
less
  • Phenotype Summary
    8 phenotypes from 2 alleles in 2 genetic backgrounds
    22 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 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
less
  • All GO Annotations
    38
  • GO References
    8
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    789
  • Tissues
    50
  • cDNA Data
    531
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020850 Ensembl Gene Model | MGI Sequence Detail 22634 C57BL/6J ±  kb
    transcript ENSMUST00000102510 Ensembl | MGI Sequence Detail 7249 Not Applicable  
    polypeptide ENSMUSP00000099568 Ensembl | MGI Sequence Detail 2335 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000013288 pre-mRNA-processing-splicing factor 8
      (term hierarchy)
    • InterPro Domains
      IPR000555 JAB1/MPN/MOV34 metalloenzyme domain
      IPR037518 MPN domain
      IPR027652 Pre-mRNA-processing-splicing factor 8
      IPR019581 Pre-mRNA-processing-splicing factor 8, U5-snRNA-binding
      IPR042516 Pre-mRNA-processing-splicing factor 8, U5-snRNA-binding domain superfamily
      IPR019580 Pre-mRNA-processing-splicing factor 8, U6-snRNA-binding
      IPR012591 PRO8NT domain
      IPR012592 PROCN domain
      IPR012984 PROCT domain
      IPR021983 PRP8 domain IV core
      IPR043173 Prp8 RNase domain IV, fingers region
      IPR043172 Prp8 RNase domain IV, palm region
      IPR012337 Ribonuclease H-like superfamily
      IPR019582 RNA recognition motif, spliceosomal PrP8
    • GlyGen
      Q99PV0 3 sites, 1 N-linked glycan (2 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 536
      Genomic 2
      cDNA 531
      Primer pair 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-34064, MGI:106371, MGI:1194893, MGI:2144394
    References
    more
    • Summaries
      All 61
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 8
      Phenotypes 22
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory