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Aliases for PNISR Gene

Aliases for PNISR Gene

  • PNN Interacting Serine And Arginine Rich Protein 2 3 5
  • Splicing Factor, Arginine/Serine-Rich 18 2 3 4
  • PNN-Interacting Serine/Arginine-Rich Protein 3 4
  • Splicing Factor, Arginine/Serine-Rich 130 3 4
  • SR-Related Protein 3 4
  • SR-Rich Protein 3 4
  • C6orf111 3 4
  • SRrp130 3 4
  • SFRS18 3 4
  • Serine-Arginine-Rich-Splicing Regulatory Protein 130 3
  • Serine/Arginine-Rich-Splicing Regulatory Protein 130 4
  • Chromosome 6 Open Reading Frame 111 2
  • Arginine/Serine-Rich Protein PNISR 3
  • BA98I9.2 3
  • HSPC306 3

External Ids for PNISR Gene

Previous HGNC Symbols for PNISR Gene

  • C6orf111
  • SFRS18

Previous GeneCards Identifiers for PNISR Gene

  • GC06M099846

Summaries for PNISR Gene

GeneCards Summary for PNISR Gene

PNISR (PNN Interacting Serine And Arginine Rich Protein) is a Protein Coding gene. GO annotations related to this gene include poly(A) RNA binding.

Gene Wiki entry for PNISR Gene

Additional gene information for PNISR Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNISR Gene

Genomics for PNISR Gene

Regulatory Elements for PNISR Gene

Enhancers for PNISR 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
GH06H099566 1.2 ENCODE 38.3 -142.7 -142726 2 MLX DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A SSRP1 ZNF610 ZNF585B LOC101927365 RPS3P5 PNISR USP45 FBXL4 MCHR2-AS1 NPM1P38 PRDX2P4 LOC102724406 TSTD3
GH06H099514 1.1 ENCODE 23.2 -90.0 -90038 2 HDGF ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SP3 SP5 MXD4 RPS3P5 PNISR LOC101927365 MCHR2-AS1 NPM1P38 PRDX2P4 LOC102724406 CCNC USP45 ENSG00000272017
GH06H099612 0.9 Ensembl 26.8 -188.4 -188384 2 ZNF76 GLI4 ZNF2 RARA GLIS2 SCRT2 ZNF548 ZNF391 EGR2 ZNF202 PNISR LOC101927365 PRDM13 GC06P099636
GH06H100295 1.2 Ensembl ENCODE 16.2 -871.8 -871780 2 FOXA2 FEZF1 ZNF2 ZNF121 FOS SP3 TSHZ1 ZNF518A MAFF GLIS1 PNISR LOC102724406 GC06M100387 LOC100129854
GH06H098845 1.5 FANTOM5 ENCODE dbSUPER 12 +579.5 579533 0 RB1 ZSCAN4 ZNF76 KLF17 ZNF2 RAD21 GLIS2 ZNF366 ZNF143 RCOR1 PNISR USP45 POU3F2 GC06M098840 FBXL4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PNISR on UCSC Golden Path with GeneCards custom track

Promoters for PNISR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000200225 -58 2401 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766

Genomic Location for PNISR Gene

Chromosome:
6
Start:
99,398,051 bp from pter
End:
99,425,342 bp from pter
Size:
27,292 bases
Orientation:
Minus strand

Genomic View for PNISR Gene

Genes around PNISR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PNISR Gene

Proteins for PNISR Gene

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

    Protein Symbol:
    Q8TF01-PNISR_HUMAN
    Recommended name:
    Arginine/serine-rich protein PNISR
    Protein Accession:
    Q8TF01
    Secondary Accessions:
    • A8K540
    • E1P5D2
    • Q5T064
    • Q5T065
    • Q6P2B4
    • Q6P2N4
    • Q6PJ93
    • Q6PK36
    • Q7Z640
    • Q8N2L1
    • Q8TF00
    • Q96K10
    • Q96SI3
    • Q96SM5
    • Q9P076
    • Q9P0C0
    • Q9Y4N3

    Protein attributes for PNISR Gene

    Size:
    805 amino acids
    Molecular mass:
    92577 Da
    Quaternary structure:
    • Interacts with PNN.
    SequenceCaution:
    • Sequence=AAH07791.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH19074.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH52638.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH64413.1; Type=Frameshift; Positions=267; Evidence={ECO:0000305}; Sequence=AAH64640.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for PNISR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PNISR Gene

Post-translational modifications for PNISR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PNISR Gene

Domains & Families for PNISR Gene

Gene Families for PNISR Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PNISR Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8TF01

UniProtKB/Swiss-Prot:

PNISR_HUMAN :
  • Belongs to the splicing factor SR family.
Family:
  • Belongs to the splicing factor SR family.
genes like me logo Genes that share domains with PNISR: view

Function for PNISR Gene

Gene Ontology (GO) - Molecular Function for PNISR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22681889
genes like me logo Genes that share ontologies with PNISR: view
genes like me logo Genes that share phenotypes with PNISR: view

Animal Model Products

CRISPR Products

miRNA for PNISR Gene

miRTarBase miRNAs that target PNISR

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PNISR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PNISR Gene

Localization for PNISR Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNISR Gene

Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PNISR gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PNISR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005829 cytosol IDA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with PNISR: view

Pathways & Interactions for PNISR Gene

SuperPathways for PNISR Gene

No Data Available

Gene Ontology (GO) - Biological Process for PNISR Gene

None

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

Drugs & Compounds for PNISR Gene

No Compound Related Data Available

Transcripts for PNISR Gene

Unigene Clusters for PNISR Gene

PNN-interacting serine/arginine-rich protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PNISR
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d · 7e · 7f ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4:
SP5: - - - - - - - - -
SP6: - - -
SP7: - - -
SP8: - - - - - - -
SP9: - - - - - -
SP10:
SP11: - - - - - - - -
SP12: -
SP13: - - - - -
SP14: - - - - - - - -
SP15: - - - - - - - - - - - - - - - -
SP16: - - -
SP17:

ExUns: 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for PNISR Gene

GeneLoc Exon Structure for
PNISR
ECgene alternative splicing isoforms for
PNISR

Expression for PNISR Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PNISR Gene

This gene is overexpressed in Platelet (30.3), Lung (12.6), and Peripheral blood mononuclear cells (8.2).

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



Protein tissue co-expression partners for PNISR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PNISR Gene:

PNISR

SOURCE GeneReport for Unigene cluster for PNISR Gene:

Hs.520287

mRNA Expression by UniProt/SwissProt for PNISR Gene:

Q8TF01-PNISR_HUMAN
Tissue specificity: Expressed in heart, skeletal muscle, thymus, spleen, kidney, liver, placenta and leukocytes.

Evidence on tissue expression from TISSUES for PNISR Gene

  • Nervous system(4.9)
  • Pancreas(4.7)
  • Kidney(4.5)
  • Skin(4.4)
  • Blood(4.3)
  • Lung(3.2)
  • Eye(2.6)
  • Liver(2.6)
  • Intestine(2.3)
  • Heart(2)
  • Lymph node(2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with PNISR: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PNISR Gene

Orthologs for PNISR Gene

This gene was present in the common ancestor of animals.

Orthologs for PNISR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SFRS18 33 34
  • 99.88 (n)
dog
(Canis familiaris)
Mammalia PNISR 33 34
  • 96.4 (n)
cow
(Bos Taurus)
Mammalia SFRS18 33 34
  • 95.13 (n)
rat
(Rattus norvegicus)
Mammalia Pnisr 33
  • 90.48 (n)
mouse
(Mus musculus)
Mammalia Sfrs18 33 34
  • 90.1 (n)
Pnisr 16
oppossum
(Monodelphis domestica)
Mammalia PNISR 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PNISR 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PNISR 33 34
  • 85.43 (n)
lizard
(Anolis carolinensis)
Reptilia PNISR 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pnisr 33
  • 73.24 (n)
Str.10739 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16792 33
zebrafish
(Danio rerio)
Actinopterygii pnisr 34
  • 56 (a)
OneToOne
wufb24d01 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9974 33
fruit fly
(Drosophila melanogaster)
Insecta CG31211 34
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
OneToOne
Species where no ortholog for PNISR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PNISR Gene

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

Paralogs for PNISR Gene

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

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

No data available for Paralogs for PNISR Gene

Variants for PNISR Gene

Sequence variations from dbSNP and Humsavar for PNISR Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000091060 -- 99,415,779(+) TGTAT(A/T)GCAGG intron-variant
rs1000163148 -- 99,400,188(+) CACCT(A/T)CACAG nc-transcript-variant, utr-variant-3-prime
rs1000467600 -- 99,415,147(+) TGCCA(A/C)AAGTA intron-variant
rs1000491571 -- 99,401,414(+) TACCA(C/G)TACTA intron-variant, nc-transcript-variant, reference, missense
rs1000523440 -- 99,415,444(+) TGGGA(A/G)GGAAG intron-variant

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

Variant ID Type Subtype PubMed ID
esv3890914 CNV loss 25118596
nsv1029536 CNV loss 25217958
nsv527517 CNV loss 19592680
nsv823789 CNV loss 20364138

Variation tolerance for PNISR Gene

Residual Variation Intolerance Score: 40.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.58; 44.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PNISR Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PNISR

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

Disorders for PNISR Gene

Relevant External Links for PNISR

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PNISR

No disorders were found for PNISR Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PNISR Gene

Publications for PNISR Gene

  1. Pinin/DRS/memA interacts with SRp75, SRm300 and SRrp130 in corneal epithelial cells. (PMID: 14578391) Zimowska G … Sugrue SP (Investigative ophthalmology & visual science 2003) 2 3 4 22 60
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 60

Products for PNISR Gene

Sources for PNISR Gene

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