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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRPF40A Gene

protein-coding   GIFtS: 52
GCID: GC02M153508

PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)

(Previous names: formin-binding protein 3, formin binding protein 3, PRP4...)
(Previous symbol: FNBP3)
 Explore 7 diseases affiliated with
PRPF40A via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PRPF40A    

Aliases
for PRPF40A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
PRP40 Pre-MRNA Processing Factor 40 Homolog A (S. Cerevisiae)1 2     Formin-Binding Protein 112 3
FBP111 2 3 5     Huntingtin Yeast Partner A2 3
FNBP31 2 3 5     Huntingtin-Interacting Protein 102 3
HYPA1 2 3 5     Renal Carcinoma Antigen NY-REN-62 3
FLAF11 2 3     HIP-102 3
HIP101 2 3     Huntingtin-Interacting Protein A2 3
FBP-111 2     FLJ205851
NY-REN-61 2     PRP40 Pre-MRNA Processing Factor 40 Homolog A (Yeast)1
Prp401 2     Fas-Ligand Associated Factor 12
Formin Binding Protein 31 2     NY-REN-6 Antigen2
Formin-Binding Protein 31 3     Pre-MRNA-Processing Factor 40 Homolog A2
Fas Ligand-Associated Factor 12 3     

External Ids:    HGNC: 164631   Entrez Gene: 556602   Ensembl: ENSG000001965047   OMIM: 6129415   UniProtKB: O754003   

Export aliases for PRPF40A gene to outside databases

Previous GC identifers: GC02M153338 GC02M153216 GC02M145394


Summaries
for PRPF40A gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: PR40A_HUMAN, O75400
Function: Binds to WASL/N-WASP and suppresses its translocation from the nucleus to the cytoplasm, thereby inhibiting
its cytoplasmic function (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal
organization. Required in the control of cell shape and migration. May play a role in cytokinesis. May be involved in
pre-mRNA splicing

Gene Wiki entry for PRPF40A


Genomic Views
for PRPF40A gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRPF40A gene promoter:
         HOXA9B   HOXA9   AP-1   AML1a   GATA-1   HEN1   Max   Meis-1a   c-Myc   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for PRPF40A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRPF40A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q23.3   Ensembl cytogenetic band:  2q23.3   HGNC cytogenetic band: 2q23.3

PRPF40A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRPF40A gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M153508:  view genomic region     (about GC identifiers)

Start:
 153,508,107 bp from pter      End:
 153,574,511 bp from pter
Size:
 66,405 bases      Orientation:
 minus strand

Proteins
for PRPF40A gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PR40A_HUMAN, O75400 (See protein sequence)
Recommended Name: Pre-mRNA-processing factor 40 homolog A  
Size: 957 amino acids; 108805 Da
Subunit: Interacts with the N-terminus of HTT. Interacts with the phosphorylated C-terminal domain of POLR2A. Interacts
with AKAP8L, SF1, SRPK1, CARD8, ATBF1 and MECP2 (By similarity). Interacts through the WW domains with formin
proline-rich regions and with WASL/N-WASP (By similarity)
Subcellular location: Nucleus speckle (By similarity). Nucleus matrix. Note=Colocalizes with AKAP8L in the nuclear
matrix (By similarity)
Sequence caution: Sequence=AAC27501.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAC27502.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAC27506.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAD42862.1; Type=Frameshift;
Positions=953; Sequence=AAF36145.1; Type=Frameshift; Positions=Several; Sequence=AAH11788.1; Type=Miscellaneous
discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 409; Sequence=BAA91277.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15016.1; Type=Miscellaneous
discrepancy;
6/10 PDB 3D structures from and Proteopedia for PRPF40A (see all 10):
1UZC (3D)        1YWI (3D)        1YWJ (3D)        1ZR7 (3D)        2CQN (3D)        2DYF (3D)    
Secondary accessions: O43856 O75404 Q8TBQ1 Q9H782 Q9NWU9 Q9P0Q2 Q9Y5A8
Alternative splicing: 4 isoforms:  O75400-1   O75400-2   O75400-3   O75400-5   (Probable target of nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for PRPF40A: NX_O75400

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75400

    • PRPF40A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060362.3  
    ENSEMBL proteins: 
     ENSP00000386458   ENSP00000346332   ENSP00000444656   ENSP00000441656   ENSP00000406924  

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    Novus Biologicals PRPF40A Protein
    Novus Biologicals PRPF40A Lysates
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    Uscn Proteins for PRPF40A

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0016363nuclear matrix IDA16391387
    GO:0016607nuclear speck IEA--


    PRPF40A for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for PRPF40A

    Protein Domains /
    Families
    for PRPF40A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PRPF40A for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR002713 FF_domain
     IPR001202 WW_Rsp5_WWP

    Graphical View of Domain Structure for InterPro Entry O75400

    ProtoNet protein and cluster: O75400

    UniProtKB/Swiss-Prot: PR40A_HUMAN, O75400
    Domain: The WW domains are essential for localization to nuclear speckles (By similarity)
    Similarity: Belongs to the PRPF40 family
    Similarity: Contains 5 FF domains
    Similarity: Contains 2 WW domains


    Function
    for PRPF40A gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: PR40A_HUMAN, O75400
    Function: Binds to WASL/N-WASP and suppresses its translocation from the nucleus to the cytoplasm, thereby inhibiting
    its cytoplasmic function (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal
    organization. Required in the control of cell shape and migration. May play a role in cytokinesis. May be involved in
    pre-mRNA splicing

    miRNA
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    hsa-miR-323-3p hsa-miR-549 hsa-miR-548j hsa-miR-3130-5p hsa-miR-607 hsa-miR-3607-3p hsa-miR-4272 hsa-miR-485-3p
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    Gene Editing
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15383276
    GO:0070064proline-rich region binding IEA--


    PRPF40A for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for PRPF40A:
     Increased gamma-H2AX phosphory  Upregulation of Wnt/beta-caten 


    Pathways & Interactions
    for PRPF40A gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1mRNA Splicing - Major Pathway
    		mRNA processing0.48
    		Spliceosome0.31

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for PRPF40A 
        mRNA processing


    1         Kegg Pathway  (Kegg details for PRPF40A):
        Spliceosome


    PRPF40A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PRPF40A

    5/729 Interacting proteins for PRPF40A (O754001, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 729)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HTTP428581, 2, 3EBI-473291,EBI-466029 MINT-3978265 MINT-3978367 MINT-7101607 MINT-7101726 MINT-3977892 MINT-7102030 MINT-7101739 MINT-7101642 MINT-7101687 MINT-7101453 MINT-7101586 MINT-7101713 I2D: score=5 
    CHD3Q128731, 2, 3EBI-473291,EBI-523590 MINT-7945693 MINT-3979432 MINT-3981738 I2D: score=4 
    SF3A1Q154592, 3MINT-8331514 MINT-7945693 MINT-8333163 I2D: score=2 
    HNRNPUL1Q9BUJ22, 3MINT-65536 MINT-61863 I2D: score=6 
    CDK12Q9NYV42, 3MINT-61865 MINT-7945693 I2D: score=5 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006397mRNA processing IEA--
    GO:0007010cytoskeleton organization IMP--
    GO:0007049cell cycle IEA--
    GO:0008360regulation of cell shape IMP--
    GO:0008380RNA splicing IEA--


    PRPF40A for ontologies           About GeneDecksing



    Drugs & Compounds
    for PRPF40A gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PRPF40A
    Search CenterWatch for drugs/clinical trials and news about PRPF40A / PR40A 

    Transcripts
    for PRPF40A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PRPF40A gene: 
    NM_017892.3  

    Unigene Cluster for PRPF40A:

    PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)
    Hs.643580  [show with all ESTs]
    Unigene Representative Sequence: NM_017892
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000410080(uc002tyg.4 uc002tyh.4 uc010zcd.1) ENST00000471701
    ENST00000471167 ENST00000472760 ENST00000354363(uc002tyj.2) ENST00000545856(uc002tyi.2 uc002tyl.1)
    ENST00000493468 ENST00000448428 ENST00000467114 ENST00000489741 ENST00000450303
    ENST00000486100

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    8/115 QIAGEN miScript miRNA Assays for microRNAs that regulate PRPF40A (see all 115):
    hsa-miR-323-3p hsa-miR-549 hsa-miR-548j hsa-miR-3130-5p hsa-miR-607 hsa-miR-3607-3p hsa-miR-4272 hsa-miR-485-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Additional cDNA sequence: 

    AF049523.1 AF049524.1 AF049528.1 AF151059.1 AF155096.1 AK000592.1 AK021621.1 AK024810.1 
    AK298547.1 AK315187.1 BC000273.1 BC011788.2 BC027178.1 BC029414.1 BC073138.1 U70667.1 

    24/28 DOTS entries (see all 28):

    DT.121023714  DT.454961  DT.440682  DT.313645  DT.121023665  DT.65286973  DT.97838082  DT.95351232 
    DT.100754766  DT.97806522  DT.92425541  DT.100785283  DT.121023656  DT.455413  DT.87046748  DT.100785286 
    DT.100785288  DT.121023653  DT.65287736  DT.92432401  DT.95268820  DT.121023715  DT.40121185  DT.75185407 

    24/367 AceView cDNA sequences (see all 367):

    BC011788 CB129625 AI868131 AA813099 AI015180 BQ025943 AI209126 CB160799 
    CB124551 CB241411 AW135954 H73162 BQ014030 BC029414 AI239916 W23623 
    CB117805 CA431284 BE251257 AU139074 T40740 CA430244 CA775180 AI090511 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for PRPF40A (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20
    SP1:                                                                                                                                                      
    SP2:                                                                                                                                                      
    SP3:                                                                                                                                                      
    SP4:                    -           -           -                                                                                                         
    SP5:                                -           -                                                                                                         


    ECgene alternative splicing isoforms for PRPF40A

    Expression
    for PRPF40A gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PRPF40A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGAGCAGGCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See PRPF40A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRPF40A

    SOURCE GeneReport for Unigene cluster: Hs.643580

    UniProtKB/Swiss-Prot: PR40A_HUMAN, O75400
    Tissue specificity: Expressed in the brain cortex (at protein level). Widely expressed

        SABiosciences Expression via Pathway-Focused PCR Array including PRPF40A: 
              Huntington's Disease in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for PRPF40A gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PRPF40A gene from 8/33 species (see all 33)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves PRPF40A1 PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) 80.17(n)
    88.76(a)    		   373972  XM_003641632.1  XP_003641680.1 
    lizard
    (Anolis carolinensis)    		 Reptilia PRPF40A6
    		 --
    		 73(a)
    		 1 ↔ 1
    		 GL343296.1(1016271-1047623)
    African clawed frog
    (Xenopus laevis)    		 Amphibia CB941857.12   -- 81.73(n)    CB941857.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii fnbp32 formin binding protein 3 77.03(n)   321555  BC049307.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG35421 CG3542 50.64(n)
    46.27(a)    		   33513  NM_134894.3  NP_608738.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea ZK1098.11 Protein ZK1098.1 49.98(n)
    39.45(a)    		   176343  NM_066697.3  NP_499098.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons PRP40A1 pre-mRNA-processing protein 40A 44.36(n)
    31.34(a)    		   841057  NM_103573.4  NP_175113.2 
    rice
    (Oryza sativa)    		 Liliopsida Os01g05322001 hypothetical protein 41.41(n)
    29.74(a)    		   4327802  NM_001049781.1  NP_001043246.2 


    ENSEMBL Gene Tree for PRPF40A (if available)
    TreeFam Gene Tree for PRPF40A (if available) 

    Paralogs
    for PRPF40A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRPF40A gene
    PRPF40B2  TCERG12  TCERG1L2  
    2 SIMAP similar genes for PRPF40A using alignment to 6 protein entries:     PR40A_HUMAN (see all proteins):
    FNBP3    PRPF40B

    PRPF40A for paralogs           About GeneDecksing



    Genomic Variants
    for PRPF40A gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1098 NCBI SNPs in PRPF40A are shown (see all 1098)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs130089651,2
    		H--145433515(+) AAAAAA/GGATTA 1 -- int1 trp34Minor allele frequency- G:0.00NS EA 408
    rs668495461,2
    		C,F,--153507651(+) GGATGG/AAATGC 1 -- ds50017Minor allele frequency- A:0.10NA WA EA 368
    rs1858974021,2
    		--153507714(+) CTCCCA/GCTTCA 1 -- ds50010--------
    rs1389232741,2
    		--153507778(+) CTAGA-/AATAATAG 1 -- ds50010--------
    rs1145511871,2
    		--153507959(+) CAGAAA/GTGTCT 1 -- ds50011Minor allele frequency- G:0.01NA 120
    rs1907013311,2
    		--153508071(+) TGTACA/GTGAAA 1 -- ds50010--------
    rs2001017511,2
    		--153508083(+) AGTGA-/TTGGGT 1 -- ds50010--------
    rs1117254931,2
    		C,--153508084(+) GTGATG/-GGGTT 1 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs577044031,2
    		C--153508085(+) ATGGG-/GTTTTT 1 -- ds50010--------
    rs725115611,2
    		C--153508088(+) ATGGG-/TTTTTT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for PRPF40A (153508107 - 153574511 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for PRPF40A
         2 CNVs: 90079 8961

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for PRPF40A gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PRPF40A for disorders           About GeneDecksing

    OMIM gene information: 612941    OMIM disorders: --

    7 diseases for PRPF40A:    About MalaCards
    renal carcinoma    rett syndrome    carcinoma    huntington's disease
    renal cell carcinoma    ataxia    malaria

    1 disease from the University of Copenhagen DISEASES database for PRPF40A:
    Rett syndrome

    2 Novoseek disease relationships for PRPF40A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rett syndrome 62 1 15811376 (1)
    huntington disease 44.1 1 16391387 (1)


    Export disorders for PRPF40A gene to outside databases

    Publications
    for PRPF40A gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PRPF40A gene, integrated from 9 sources (see all 64):
    (articles sorted by number of sources associating them with PRPF40A)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Interaction of the nuclear matrix protein NAKAP with HypA and huntingtin: implications for nuclear toxicity in Huntington's disease pathogenesis. (PubMed id 16391387)1, 2, 9 Sayer J.A....Coghlan V.M. (2005)
    2. Huntingtin interacts with a family of WW domain proteins. (PubMed id 9700202)1, 2, 9 Faber P.W....MacDonald M.E. (1998)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Solution structure and ligand recognition of the WW domain pair of the yeast splicing factor Prp40. (PubMed id 12460579)1, 3 Wiesner S....Macias M.J. (2002)
    8. The structure of an FF domain from human HYPA/FBP11. (PubMed id 12381297)1, 2 Allen M.... Bycroft M. (2002)
    9. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)
    10. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PubMed id 10508479)1, 2 Scanlan M.J....Old L.J. (1999)

    External Searches for PRPF40A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PRPF40A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55660 HGNC: 16463 AceView: FNBP3 Ensembl:ENSG00000196504 euGenes: HUgn55660
    ECgene: PRPF40A Kegg: 55660 H-InvDB: PRPF40A

    Other Databases showing PRPF40A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PRPF40A gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PRPF40A Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for PRPF40A gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PRPF40A gene:
    Search GeneIP for patents involving PRPF40A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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