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Gene id 26121
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol PRPF31   Gene   UCSC   Ensembl
Aliases NY-BR-99, PRP31, RP11, SNRNP61
Gene name pre-mRNA processing factor 31
Alternate names U4/U6 small nuclear ribonucleoprotein Prp31, PRP31 pre-mRNA processing factor 31 homolog, U4/U6 snRNP 61 kDa protein, hPrp31, protein 61K, serologically defined breast cancer antigen NY-BR-99,
Gene location 19q13.42 (54115705: 54131718)     Exons: 13     NC_000019.10
Gene summary(Entrez) This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]
OMIM 606419

Protein Summary
Protein general information Q8WWY3  

Name: U4/U6 small nuclear ribonucleoprotein Prp31 (Pre mRNA processing factor 31) (Serologically defined breast cancer antigen NY BR 99) (U4/U6 snRNP 61 kDa protein) (Protein 61K) (hPrp31)

Length: 499  Mass: 55456

Tissue specificity: Ubiquitously expressed. {ECO

Sequence MSLADELLADLEEAAEEEEGGSYGEEEEEPAIEDVQEETQLDLSGDSVKTIAKLWDSKMFAEIMMKIEEYISKQA
KASEVMGPVEAAPEYRVIVDANNLTVEIENELNIIHKFIRDKYSKRFPELESLVPNALDYIRTVKELGNSLDKCK
NNENLQQILTNATIMVVSVTASTTQGQQLSEEELERLEEACDMALELNASKHRIYEYVESRMSFIAPNLSIIIGA
STAAKIMGVAGGLTNLSKMPACNIMLLGAQRKTLSGFSSTSVLPHTGYIYHSDIVQSLPPDLRRKAARLVAAKCT
LAARVDSFHESTEGKVGYELKDEIERKFDKWQEPPPVKQVKPLPAPLDGQRKKRGGRRYRKMKERLGLTEIRKQA
NRMSFGEIEEDAYQEDLGFSLGHLGKSGSGRVRQTQVNEATKARISKTLQRTLQKQSVVYGGKSTIRDRSSGTAS
SVAFTPLQGLEIVNPQAAEKKVAEANQKYFSSMAEFLKVKGEKSGLMST
Structural information
Protein Domains
 (215..33-)
(/note="Nop-)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00690"-)
Interpro:  IPR029012  IPR042239  IPR002687  IPR036070  IPR012976  
IPR027105  IPR019175  
Prosite:   PS51358

PDB:  		 2OZB 3JCR 3SIU 3SIV 5O9Z 6AH0 6AHD 6QW6 6QX9
PDBsum:   2OZB 3JCR 3SIU 3SIV 5O9Z 6AH0 6AHD 6QW6 6QX9
MINT:  
STRING:   ENSP00000324122
Other Databases GeneCards:  PRPF31  Malacards:  PRPF31

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0005687 U4 snRNP
 IBA cellular component
GO:0071011 precatalytic spliceosome
 IBA cellular component
GO:0000398 mRNA splicing, via splice
osome
 IBA biological process
GO:0097526 spliceosomal tri-snRNP co
mplex
 IBA cellular component
GO:0071339 MLL1 complex
 IDA cellular component
GO:0005690 U4atac snRNP
 IDA cellular component
GO:0030622 U4atac snRNA binding
 IDA molecular function
GO:0000398 mRNA splicing, via splice
osome
 IDA biological process
GO:0005634 nucleus
 IDA cellular component
GO:0046540 U4/U6 x U5 tri-snRNP comp
lex
 IDA cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0071005 U2-type precatalytic spli
ceosome
 IDA cellular component
GO:0000398 mRNA splicing, via splice
osome
 IEA biological process
GO:0000244 spliceosomal tri-snRNP co
mplex assembly
 IEA biological process
GO:0046540 U4/U6 x U5 tri-snRNP comp
lex
 IEA cellular component
GO:0005681 spliceosomal complex
 IEA cellular component
GO:0006397 mRNA processing
 IEA biological process
GO:0008380 RNA splicing
 IEA biological process
GO:0003723 RNA binding
 IEA molecular function
GO:0005634 nucleus
 IEA cellular component
GO:0000398 mRNA splicing, via splice
osome
 IDA biological process
GO:0046540 U4/U6 x U5 tri-snRNP comp
lex
 IDA cellular component
GO:0043021 ribonucleoprotein complex
binding
 IDA molecular function
GO:0016607 nuclear speck
 IDA cellular component
GO:0015030 Cajal body
 IDA cellular component
GO:0000244 spliceosomal tri-snRNP co
mplex assembly
 IDA biological process
GO:0000398 mRNA splicing, via splice
osome
 TAS biological process
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005634 nucleus
 IDA cellular component
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0042802 identical protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0070990 snRNP binding
 IPI molecular function
GO:0000398 mRNA splicing, via splice
osome
 IC biological process
GO:0005684 U2-type spliceosomal comp
lex
 IC cellular component
GO:0005687 U4 snRNP
 IDA cellular component
GO:0005690 U4atac snRNP
 TAS cellular component
GO:0000244 spliceosomal tri-snRNP co
mplex assembly
 IMP biological process
GO:0005634 nucleus
 IEA cellular component
GO:0015030 Cajal body
 IEA cellular component
GO:0016607 nuclear speck
 IEA cellular component
GO:0005654 nucleoplasm
 IDA cellular component
GO:0030621 U4 snRNA binding
 IDA molecular function
GO:0030622 U4atac snRNA binding
 IDA molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0046540 U4/U6 x U5 tri-snRNP comp
lex
 IDA cellular component
GO:0048254 snoRNA localization
 IMP NOT|biological process
GO:0071166 ribonucleoprotein complex
localization
 IMP biological process
GO:0003723 RNA binding
 HDA molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0003723 RNA binding
 HDA molecular function

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa03040Spliceosome

Diseases

Expand All | Collapse All
Associated diseases References
Retinitis pigmentosa KEGG:H00527
Retinitis pigmentosa KEGG:H00527
Cryptorchidism MIK: 28606200
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract