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Prpf8
Gene Detail
 Symbol
Name
ID
Prpf8
pre-mRNA processing factor 8
MGI:2179381
Synonyms D11Bwg0410e, DBF3/PRP8, Prp8, Sfprp8l
Feature Type protein coding gene
Genetic Map
Chromosome 11
45.92 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr11:75486816-75509449 bp, + strand
From VEGA annotation of GRCm38

  22634 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4706  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Prpf8

Human
homologs
Human Homolog PRPF8, pre-mRNA processing factor 8
NCBI Gene ID 10594
neXtProt AC  NX_Q6P2Q9
Human Synonyms  HPRP8, PRP8, PRPC8, RP13, SNRNP220
Human Chr (Location)  17p13.3; chr17:1650629-1684882 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human PRPF8
Alleles
and
phenotypes
All alleles(18) : Gene trapped(14) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Prpf8 (1)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (16 annotations)
Process mRNA processing, mRNA splicing, via spliceosome, ...
Component catalytic step 2 spliceosome, membrane, ...
Function nucleic acid binding, poly(A) RNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (38)    Tissues (35)    Images (3)
Theiler Stages: 15, 19, 21, 23, 25, 28
Assay TypeResults
RNA in situ 23
Northern blot 13
RT-PCR 2
cDNA source data(530)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(534) Genomic(2) cDNA(530) Primer pair(2)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000006208 (Evidence)
Ensembl Gene ModelENSMUSG00000020850 (Evidence)
Entrez Gene192159 (Evidence)
UniGene3757
DFCITC1573109, TC1651564
DoTSDT.102540354, DT.103582966, DT.110502006, DT.494863, DT.94410792, DT.99861991
NIA Mouse Gene IndexU012950
Consensus CDS ProjectCCDS25048.1
International Mouse Knockout Project StatusPrpf8
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006208 VEGA Gene Model | MGI Sequence Detail 22634 C57BL/6J ±  kb
transcript OTTMUST00000014003 VEGA | MGI Sequence Detail 7442 Not Applicable 
polypeptide OTTMUSP00000006505 VEGA | MGI Sequence Detail 2335 Not Applicable 

For the selected sequences
All sequences(56) RefSeq(2) UniProt(4)
Polymorphisms SNPs within 2kb(83 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000555 JAB1/Mov34/MPN/PAD-1
InterPro IPR012591 Pre-mRNA-processing-splicing factor 8
InterPro IPR019581 Pre-mRNA-processing-splicing factor 8, U5-snRNA-binding
InterPro IPR019580 Pre-mRNA-processing-splicing factor 8, U6-snRNA-binding
InterPro IPR012592 PROCN
InterPro IPR012984 PRO, C-terminal
InterPro IPR021983 PRP8 domain IV core
InterPro IPR012337 Ribonuclease H-like domain
InterPro IPR019582 RNA recognition motif, spliceosomal PrP8
Protein Ontology PR:000013288 pre-mRNA-processing-splicing factor 8
References (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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(45)
Other
accession IDs
MGD-MRK-34064, MGI:106371, MGI:1194893, MGI:2144394

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
07/15/2014
MGI 5.18
The Jackson Laboratory