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Aliases for PRPF40A Gene

Aliases for PRPF40A Gene

  • Pre-MRNA Processing Factor 40 Homolog A 2 3 5
  • PRP40 Pre-MRNA Processing Factor 40 Homolog A 2 3
  • Huntingtin-Interacting Protein 10 3 4
  • Renal Carcinoma Antigen NY-REN-6 3 4
  • Huntingtin-Interacting Protein A 3 4
  • Fas Ligand-Associated Factor 1 3 4
  • Huntingtin Yeast Partner A 3 4
  • Formin-Binding Protein 11 3 4
  • Formin-Binding Protein 3 2 4
  • Formin Binding Protein 3 2 3
  • HIP-10 3 4
  • FNBP3 3 4
  • FBP11 3 4
  • FLAF1 3 4
  • HIP10 3 4
  • HYPA 3 4
  • PRP40 Pre-MRNA Processing Factor 40 Homolog A (S. Cerevisiae) 2
  • PRP40 Pre-MRNA Processing Factor 40 Homolog A (Yeast) 2
  • Fas-Ligand Associated Factor 1 3
  • NY-REN-6 Antigen 3
  • NY-REN-6 3
  • FBP-11 3
  • Prp40 3

External Ids for PRPF40A Gene

Previous HGNC Symbols for PRPF40A Gene

  • FNBP3

Previous GeneCards Identifiers for PRPF40A Gene

  • GC02M153338
  • GC02M153216
  • GC02M153508
  • GC02M145394

Summaries for PRPF40A Gene

GeneCards Summary for PRPF40A Gene

PRPF40A (Pre-MRNA Processing Factor 40 Homolog A) is a Protein Coding gene. Diseases associated with PRPF40A include Rett Syndrome and Huntington Disease. Among its related pathways are mRNA Splicing - Major Pathway. GO annotations related to this gene include poly(A) RNA binding and proline-rich region binding. An important paralog of this gene is PRPF40B.

UniProtKB/Swiss-Prot for PRPF40A Gene

  • 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 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPF40A Gene

Genomics for PRPF40A Gene

Regulatory Elements for PRPF40A Gene

Enhancers for PRPF40A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PRPF40A on UCSC Golden Path with GeneCards custom track

Promoters for PRPF40A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PRPF40A on UCSC Golden Path with GeneCards custom track

Genomic Location for PRPF40A Gene

Chromosome:
2
Start:
152,651,593 bp from pter
End:
152,717,997 bp from pter
Size:
66,405 bases
Orientation:
Minus strand

Genomic View for PRPF40A Gene

Genes around PRPF40A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRPF40A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRPF40A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPF40A Gene

Proteins for PRPF40A Gene

  • Protein details for PRPF40A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75400-PR40A_HUMAN
    Recommended name:
    Pre-mRNA-processing factor 40 homolog A
    Protein Accession:
    O75400
    Secondary Accessions:
    • O43856
    • O75404
    • Q8TBQ1
    • Q9H782
    • Q9NWU9
    • Q9P0Q2
    • Q9Y5A8

    Protein attributes for PRPF40A Gene

    Size:
    957 amino acids
    Molecular mass:
    108805 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=AAC27501.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAC27502.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAC27506.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAD42862.1; Type=Frameshift; Positions=953; Evidence={ECO:0000305}; Sequence=AAF36145.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAH11788.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 409.; Evidence={ECO:0000305}; Sequence=BAA91277.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15016.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PRPF40A Gene

    Alternative splice isoforms for PRPF40A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRPF40A Gene

Proteomics data for PRPF40A Gene at MOPED

Post-translational modifications for PRPF40A Gene

  • Ubiquitination at Lys 196, Lys 718, and Lys 727
  • Modification sites at PhosphoSitePlus

Other Protein References for PRPF40A Gene

No data available for DME Specific Peptides for PRPF40A Gene

Domains & Families for PRPF40A Gene

Protein Domains for PRPF40A Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O75400

UniProtKB/Swiss-Prot:

PR40A_HUMAN :
  • The WW domains are essential for localization to nuclear speckles.
  • Belongs to the PRPF40 family.
Domain:
  • The WW domains are essential for localization to nuclear speckles.
  • Contains 6 FF domains.
  • Contains 2 WW domains.
Family:
  • Belongs to the PRPF40 family.
genes like me logo Genes that share domains with PRPF40A: view

No data available for Gene Families for PRPF40A Gene

Function for PRPF40A Gene

Molecular function for PRPF40A Gene

UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for PRPF40A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IBA --
genes like me logo Genes that share ontologies with PRPF40A: view
genes like me logo Genes that share phenotypes with PRPF40A: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PRPF40A Gene

Localization for PRPF40A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRPF40A Gene

Nucleus speckle. Nucleus matrix. Note=Colocalizes with AKAP8L in the nuclear matrix. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRPF40A Gene COMPARTMENTS Subcellular localization image for PRPF40A gene
Compartment Confidence
nucleus 5
cytosol 3
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PRPF40A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0016020 membrane IDA 19946888
GO:0016363 nuclear matrix IEA,IDA 16391387
genes like me logo Genes that share ontologies with PRPF40A: view

Pathways & Interactions for PRPF40A Gene

SuperPathways for PRPF40A Gene

Superpath Contained pathways
1 mRNA Splicing - Major Pathway
genes like me logo Genes that share pathways with PRPF40A: view

Pathways by source for PRPF40A Gene

1 BioSystems pathway for PRPF40A Gene
1 KEGG pathway for PRPF40A Gene

Gene Ontology (GO) - Biological Process for PRPF40A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome IBA --
GO:0008360 regulation of cell shape IMP 21834987
GO:0032465 regulation of cytokinesis IMP 21834987
genes like me logo Genes that share ontologies with PRPF40A: view

No data available for SIGNOR curated interactions for PRPF40A Gene

Drugs & Compounds for PRPF40A Gene

No Compound Related Data Available

Transcripts for PRPF40A Gene

Unigene Clusters for PRPF40A Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for PRPF40A Gene

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: - -
SP6: - -
SP7:

Relevant External Links for PRPF40A Gene

GeneLoc Exon Structure for
PRPF40A
ECgene alternative splicing isoforms for
PRPF40A

Expression for PRPF40A Gene

mRNA expression in normal human tissues for PRPF40A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PRPF40A Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PRPF40A Gene



SOURCE GeneReport for Unigene cluster for PRPF40A Gene Hs.643580

mRNA Expression by UniProt/SwissProt for PRPF40A Gene

O75400-PR40A_HUMAN
Tissue specificity: Expressed in the brain cortex (at protein level). Widely expressed.
genes like me logo Genes that share expression patterns with PRPF40A: view

Protein tissue co-expression partners for PRPF40A Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for PRPF40A Gene

Orthologs for PRPF40A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PRPF40A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PRPF40A 35
  • 94.58 (n)
  • 99.03 (a)
PRPF40A 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRPF40A 35
  • 93.91 (n)
  • 98.82 (a)
PRPF40A 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prpf40a 35
  • 91.44 (n)
  • 96.49 (a)
Prpf40a 16
Prpf40a 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRPF40A 35
  • 99.78 (n)
  • 99.89 (a)
PRPF40A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prpf40a 35
  • 91.36 (n)
  • 96.71 (a)
oppossum
(Monodelphis domestica)
Mammalia PRPF40A 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRPF40A 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRPF40A 35
  • 80.02 (n)
  • 87.7 (a)
PRPF40A 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRPF40A 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prpf40a 35
  • 70.45 (n)
  • 76.26 (a)
Str.8902 35
zebrafish
(Danio rerio)
Actinopterygii fnbp3 35
prpf40a 35
  • 68.65 (n)
  • 75.15 (a)
prpf40a 36
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3542 36
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK1098.1 35
  • 52.21 (n)
  • 42.24 (a)
ZK1098.1 36
  • 38 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP40 36
  • 27 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PRP40B 35
  • 45.37 (n)
  • 33.66 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11107 36
  • 47 (a)
OneToMany
Species with no ortholog for PRPF40A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PRPF40A Gene

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

Paralogs for PRPF40A Gene

Paralogs for PRPF40A Gene

(2) SIMAP similar genes for PRPF40A Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PRPF40A: view

Variants for PRPF40A Gene

Sequence variations from dbSNP and Humsavar for PRPF40A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1962313 -- 152,707,716(-) gttga(C/T)attgg intron-variant
rs1036525 -- 152,674,423(-) TGCAT(C/T)CCCTT intron-variant
rs1036526 -- 152,663,010(-) TTTTC(C/T)AATGG intron-variant
rs1992146 -- 152,671,801(-) TTTAT(A/G)TAGCA intron-variant
rs3080639 -- 152,661,853(+) TTTTT(-/T/TT)GGGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PRPF40A Gene

Variant ID Type Subtype PubMed ID
esv34659 CNV Loss 17911159
nsv7331 OTHER Inversion 18451855
nsv834420 CNV Loss 17160897
nsv834421 CNV Loss 17160897

Variation tolerance for PRPF40A Gene

Residual Variation Intolerance Score: 3.79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 15.97% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for PRPF40A Gene

Disorders for PRPF40A Gene

MalaCards: The human disease database

(2) MalaCards diseases for PRPF40A Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
rett syndrome
  • rett syndrome, preserved speech variant
huntington disease
  • congenital anomalies of kidney and urinary tract 2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PRPF40A

Genetic Association Database (GAD)
PRPF40A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRPF40A
genes like me logo Genes that share disorders with PRPF40A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PRPF40A Gene

Publications for PRPF40A Gene

  1. Interaction of the nuclear matrix protein NAKAP with HypA and huntingtin: implications for nuclear toxicity in Huntington's disease pathogenesis. (PMID: 16391387) Sayer J.A. … Coghlan V.M. (NeuroMolecular Med. 2005) 3 4 23 67
  2. A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome. (PMID: 14618241) Buschdorf J.P. … StrAotling W.H. (J. Mol. Med. 2004) 3 23
  3. The WW domain-containing proteins interact with the early spliceosome and participate in pre-mRNA splicing in vivo. (PMID: 15456888) Lin K.T. … Tarn W.Y. (Mol. Cell. Biol. 2004) 3 23
  4. Identification and characterization of human FNBP3 gene in silico. (PMID: 12964049) Katoh M. … Katoh M. (Int. J. Mol. Med. 2003) 3 23
  5. Solution structure and ligand recognition of the WW domain pair of the yeast splicing factor Prp40. (PMID: 12460579) Wiesner S. … Macias M.J. (J. Mol. Biol. 2002) 2 3

Products for PRPF40A Gene

Sources for PRPF40A Gene

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