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Aliases for PSPC1 Gene

Aliases for PSPC1 Gene

  • Paraspeckle Component 1 2 3 5
  • Paraspeckle Protein 1 3 4
  • PSP1 3 4

External Ids for PSPC1 Gene

Previous GeneCards Identifiers for PSPC1 Gene

  • GC13M019178
  • GC13M018046
  • GC13M018047
  • GC13M019146
  • GC13M020249
  • GC13M001053

Summaries for PSPC1 Gene

Entrez Gene Summary for PSPC1 Gene

  • This gene encodes a nucleolar protein that localizes to punctate subnuclear structures that occur close to splicing speckles, known as paraspeckles. These paraspeckles are composed of RNA-protein structures that include a non-coding RNA, NEAT1/Men epsilon/beta, and the Drosophila Behavior Human Splicing family of proteins, which include the product of this gene and the P54NRB/NONO and PSF/SFPQ proteins. Paraspeckles may function in the control of gene expression via an RNA nuclear retention mechanism. The protein encoded by this gene is found in paraspeckles in transcriptionally active cells, but it localizes to unique cap structures at the nucleolar periphery when RNA polymerase II transcription is inhibited, or during telophase. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene, which is also located on chromosome 13, has been identified. [provided by RefSeq, Aug 2011]

GeneCards Summary for PSPC1 Gene

PSPC1 (Paraspeckle Component 1) is a Protein Coding gene. Diseases associated with PSPC1 include Rapp-Hodgkin Syndrome and Hard Palate Cancer. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is SFPQ.

UniProtKB/Swiss-Prot for PSPC1 Gene

  • Regulates, cooperatively with NONO and SFPQ, androgen receptor-mediated gene transcription activity in Sertoli cell line (By similarity). Binds to poly(A), poly(G) and poly(U) RNA homopolymers. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer (By similarity). Together with NONO, required for the formation of nuclear paraspeckles.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSPC1 Gene

Genomics for PSPC1 Gene

Regulatory Elements for PSPC1 Gene

Enhancers for PSPC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13F019845 1.3 FANTOM5 Ensembl ENCODE 13.3 -63.0 -62990 1.8 TBP ATF1 INSM2 SIN3A FEZF1 BMI1 RAD21 ZEB1 RFX5 CBX5 PSPC1 MPHOSPH8 ZMYM5 ENSG00000223576
GH13F019818 0.6 ENCODE 11.7 -35.4 -35377 0.2 GTF2F1 CTCF ZNF687 SIN3A CDC5L RAD21 CBX1 MTA1 POLR2A FOXP2 ENSG00000223576 PSPC1 MPHOSPH8 ST6GALNAC4P1
GH13F019713 0.2 ENCODE 11.3 +69.4 69364 0.9 SOX13 ATF1 MAX FEZF1 NFE2 L3MBTL2 FOXA3 JUNB TFDP1 JUND MPHOSPH8 ENSG00000226352 PSPC1 RN7SL166P
GH13F019603 0.2 Ensembl 10.5 +179.4 179419 0.4 MPHOSPH8 ENSG00000226352 PSPC1 PIR42308 PIR53239
GH13F019601 0.8 Ensembl ENCODE 10.5 +180.8 180819 2.0 CREB3L1 SIN3A DMAP1 ELK1 ZNF143 KAT8 ZNF585B MXD3 SP7 CTCF MPHOSPH8 ESRRAP1 ENSG00000226352 PSPC1 ZMYM5 PIR42308 LINC00350
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PSPC1 on UCSC Golden Path with GeneCards custom track

Promoters for PSPC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001507602 819 2801 HDGF ARID4B SIN3A GLI4 DMAP1 ZNF2 YY1 GTF3C2 ZNF121 GATA2

Genomic Location for PSPC1 Gene

Chromosome:
13
Start:
19,674,752 bp from pter
End:
19,783,019 bp from pter
Size:
108,268 bases
Orientation:
Minus strand

Genomic View for PSPC1 Gene

Genes around PSPC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSPC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSPC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSPC1 Gene

Proteins for PSPC1 Gene

  • Protein details for PSPC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXF1-PSPC1_HUMAN
    Recommended name:
    Paraspeckle component 1
    Protein Accession:
    Q8WXF1
    Secondary Accessions:
    • Q5JTQ3
    • Q8NCZ9
    • Q8WXE8
    • Q9NV36

    Protein attributes for PSPC1 Gene

    Size:
    523 amino acids
    Molecular mass:
    58744 Da
    Quaternary structure:
    • Forms heterodimers with NONO; this involves formation of a coiled coil domain by helices from both proteins. Found in a RNP complex with CAT2 transcribed nuclear RNA (CTN-RNA). Interaction with NONO is required for its targeting to paraspeckles and perinucleolar caps. Interacts with SFPQ (By similarity).
    SequenceCaution:
    • Sequence=BAA91924.1; Type=Erroneous termination; Positions=14; Note=Translated as Lys.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PSPC1 Gene

    Alternative splice isoforms for PSPC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSPC1 Gene

Post-translational modifications for PSPC1 Gene

  • Ubiquitination at Lys 198
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PSPC1 Gene

Domains & Families for PSPC1 Gene

Gene Families for PSPC1 Gene

Suggested Antigen Peptide Sequences for PSPC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WXF1

UniProtKB/Swiss-Prot:

PSPC1_HUMAN :
  • Contains 2 RRM (RNA recognition motif) domains.
  • Belongs to the PSPC family.
Domain:
  • Contains 2 RRM (RNA recognition motif) domains.
Family:
  • Belongs to the PSPC family.
genes like me logo Genes that share domains with PSPC1: view

Function for PSPC1 Gene

Molecular function for PSPC1 Gene

UniProtKB/Swiss-Prot Function:
Regulates, cooperatively with NONO and SFPQ, androgen receptor-mediated gene transcription activity in Sertoli cell line (By similarity). Binds to poly(A), poly(G) and poly(U) RNA homopolymers. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer (By similarity). Together with NONO, required for the formation of nuclear paraspeckles.

Gene Ontology (GO) - Molecular Function for PSPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA --
GO:0001047 core promoter binding ISS --
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
genes like me logo Genes that share ontologies with PSPC1: view
genes like me logo Genes that share phenotypes with PSPC1: view

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PSPC1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSPC1 Gene

Localization for PSPC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSPC1 Gene

Nucleus, nucleolus. Nucleus matrix. Cytoplasm. Nucleus speckle. Note=In punctate subnuclear structures often located adjacent to splicing speckles, called paraspeckles. Colocalizes with NONO and SFPQ in paraspeckles and perinucleolar caps in an RNA-dependent manner. May cycles between paraspeckles and nucleolus. In telophase, when daughter nuclei form, localizes to perinucleolar caps.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PSPC1 Gene COMPARTMENTS Subcellular localization image for PSPC1 gene
Compartment Confidence
nucleus 5
cytosol 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PSPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0016363 nuclear matrix IEA --
genes like me logo Genes that share ontologies with PSPC1: view

Pathways & Interactions for PSPC1 Gene

SuperPathways for PSPC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PSPC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome IBA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA,IBA --
GO:0042752 regulation of circadian rhythm ISS --
GO:0045892 negative regulation of transcription, DNA-templated ISS --
genes like me logo Genes that share ontologies with PSPC1: view

No data available for Pathways by source and SIGNOR curated interactions for PSPC1 Gene

Transcripts for PSPC1 Gene

Unigene Clusters for PSPC1 Gene

Paraspeckle component 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PSPC1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PSPC1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13
SP1: - -
SP2: - - - - - - - -
SP3: - - - - - - - - -
SP4: -
SP5: -
SP6:
SP7:

Relevant External Links for PSPC1 Gene

GeneLoc Exon Structure for
PSPC1
ECgene alternative splicing isoforms for
PSPC1

Expression for PSPC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PSPC1 Gene

Protein differential expression in normal tissues from HIPED for PSPC1 Gene

This gene is overexpressed in Fetal ovary (9.1) and Fetal Brain (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PSPC1 Gene



Protein tissue co-expression partners for PSPC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PSPC1 Gene:

PSPC1

SOURCE GeneReport for Unigene cluster for PSPC1 Gene:

Hs.213198

mRNA Expression by UniProt/SwissProt for PSPC1 Gene:

Q8WXF1-PSPC1_HUMAN
Tissue specificity: Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart.
genes like me logo Genes that share expression patterns with PSPC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PSPC1 Gene

Orthologs for PSPC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PSPC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PSPC1 34 35
  • 99.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 98 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PSPC1 34 35
  • 92.51 (n)
rat
(Rattus norvegicus)
Mammalia Pspc1 34
  • 92.08 (n)
mouse
(Mus musculus)
Mammalia Pspc1 34 16 35
  • 91.83 (n)
cow
(Bos Taurus)
Mammalia PSPC1 34 35
  • 90.38 (n)
oppossum
(Monodelphis domestica)
Mammalia PSPC1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves PSPC1 34 35
  • 85.69 (n)
lizard
(Anolis carolinensis)
Reptilia PSPC1 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pspc1 34
  • 75.42 (n)
zebrafish
(Danio rerio)
Actinopterygii pspc1 34 35
  • 69.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta nonA-l 35
  • 24 (a)
ManyToMany
nonA 35
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea nono-1 35
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 41 (a)
OneToMany
Species where no ortholog for PSPC1 was found in the sources mined by GeneCards:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PSPC1 Gene

ENSEMBL:
Gene Tree for PSPC1 (if available)
TreeFam:
Gene Tree for PSPC1 (if available)

Paralogs for PSPC1 Gene

Paralogs for PSPC1 Gene

(2) SIMAP similar genes for PSPC1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PSPC1: view

Variants for PSPC1 Gene

Sequence variations from dbSNP and Humsavar for PSPC1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs10047672 -- 19,692,161(+) ctcta(C/T)tgccc intron-variant
rs10047758 -- 19,687,100(+) ggaaa(A/C)tgaga intron-variant
rs1023227 -- 19,686,706(-) AATCA(A/G)CAGCC intron-variant
rs1023228 -- 19,686,660(-) ATTTT(A/T)TGAAC intron-variant
rs1023229 -- 19,696,785(-) TGTAA(C/T)TGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PSPC1 Gene

Variant ID Type Subtype PubMed ID
dgv1607n100 CNV gain 25217958
dgv1608n100 CNV gain 25217958
dgv3071n54 CNV loss 21841781
dgv334e199 CNV deletion 23128226
esv2672732 CNV deletion 23128226
esv2675516 CNV deletion 23128226
esv2747051 CNV deletion 23290073
esv2761244 CNV gain 21179565
esv3550125 CNV deletion 23714750
esv3582126 CNV gain 25503493
esv3582138 CNV gain 25503493
esv3631393 CNV gain 21293372
esv3631398 CNV gain 21293372
esv3631399 CNV loss 21293372
esv3631400 CNV gain 21293372
esv3631401 CNV loss 21293372
esv3892299 CNV gain 25118596
esv3892300 CNV loss 25118596
nsv1038964 CNV gain 25217958
nsv1041042 CNV gain 25217958
nsv1046946 CNV gain 25217958
nsv1047555 CNV loss 25217958
nsv1051666 CNV gain 25217958
nsv1054226 CNV gain 25217958
nsv1078303 OTHER inversion 25765185
nsv1115628 CNV deletion 24896259
nsv1140246 OTHER inversion 24896259
nsv1148310 CNV deletion 26484159
nsv1151909 OTHER inversion 26484159
nsv455826 CNV loss 19166990
nsv516945 CNV gain+loss 19592680
nsv561209 CNV loss 21841781
nsv826574 CNV loss 20364138
nsv974050 CNV duplication 23825009

Variation tolerance for PSPC1 Gene

Residual Variation Intolerance Score: 11.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.55; 29.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PSPC1 Gene

Human Gene Mutation Database (HGMD)
PSPC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSPC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSPC1 Gene

Disorders for PSPC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PSPC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
rapp-hodgkin syndrome
  • orofacial cleft 8
hard palate cancer
  • hard palate
- elite association - COSMIC cancer census association via MalaCards
Search PSPC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PSPC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSPC1
genes like me logo Genes that share disorders with PSPC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PSPC1 Gene

Publications for PSPC1 Gene

  1. Paraspeckles: a novel nuclear domain. (PMID: 11790299) Fox A.H. … Lamond A.I. (Curr. Biol. 2002) 2 3 4 22 64
  2. P54nrb forms a heterodimer with PSP1 that localizes to paraspeckles in an RNA-dependent manner. (PMID: 16148043) Fox A.H. … Lamond A.I. (Mol. Biol. Cell 2005) 3 4 22 64
  3. Structure of the heterodimer of human NONO and paraspeckle protein component 1 and analysis of its role in subnuclear body formation. (PMID: 22416126) Passon D.M. … Bond C.S. (Proc. Natl. Acad. Sci. U.S.A. 2012) 3 4 64
  4. MENepsilon/beta noncoding RNAs are essential for structural integrity of nuclear paraspeckles. (PMID: 19188602) Sasaki Y.T. … Hirose T. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 22 64
  5. An architectural role for a nuclear noncoding RNA: NEAT1 RNA is essential for the structure of paraspeckles. (PMID: 19217333) Clemson C.M. … Lawrence J.B. (Mol. Cell 2009) 3 22 64

Products for PSPC1 Gene

Sources for PSPC1 Gene

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