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Aliases for NSUN5P1 Gene

Aliases for NSUN5P1 Gene

  • NOP2/Sun Domain Family, Member 5 Pseudogene 1 2 3
  • Williams Beuren Syndrome Chromosome Region 20B 2 3
  • NOP2/Sun Domain Family, Member 5B, Pseudogene 2 3
  • NOL1/NOP2/Sun Domain Family, Member 5B 2 3
  • WBSCR20B 3 4
  • NSUN5B 3 4
  • Williams-Beuren Syndrome Critical Region Protein 20 Copy B 3
  • Williams-Beuren Syndrome Chromosomal Region 20B Protein 4
  • NOP2/Sun Domain Family, Member 5B (Pseudogene) 2
  • NOP2/Sun Domain Family, Member 5B 2
  • EC 2.1.1.- 4

External Ids for NSUN5P1 Gene

Previous HGNC Symbols for NSUN5P1 Gene

  • NSUN5B

Previous GeneCards Identifiers for NSUN5P1 Gene

  • GC07P075039
  • GC07P074376

Summaries for NSUN5P1 Gene

Entrez Gene Summary for NSUN5P1 Gene

  • This locus represents a transcribed pseudogene of a nearby locus on chromosome 7, which encodes a putative methyltransferase. There is also a third closely related pseudogene locus in this region. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

GeneCards Summary for NSUN5P1 Gene

NSUN5P1 (NOP2/Sun Domain Family, Member 5 Pseudogene 1) is a Pseudogene. Diseases associated with NSUN5P1 include williams-beuren syndrome. GO annotations related to this gene include RNA binding and methyltransferase activity.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSUN5P1 Gene

Genomics for NSUN5P1 Gene

Genomic Location for NSUN5P1 Gene

Start:
75,410,322 bp from pter
End:
75,416,792 bp from pter
Size:
6,471 bases
Orientation:
Plus strand

Genomic View for NSUN5P1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NSUN5P1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSUN5P1 Gene

No data available for Regulatory Elements for NSUN5P1 Gene

Proteins for NSUN5P1 Gene

  • Protein details for NSUN5P1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3KNT7-NSN5B_HUMAN
    Recommended name:
    Putative NOL1/NOP2/Sun domain family member 5B
    Protein Accession:
    Q3KNT7
    Secondary Accessions:
    • B3KX24
    • Q52LC6
    • Q8N728

    Protein attributes for NSUN5P1 Gene

    Size:
    163 amino acids
    Molecular mass:
    17679 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for NSUN5P1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NSUN5P1 Gene

Proteomics data for NSUN5P1 Gene at MOPED

Post-translational modifications for NSUN5P1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NSUN5P1 Gene

Domains for NSUN5P1 Gene

Protein Domains for NSUN5P1 Gene

Suggested Antigen Peptide Sequences for NSUN5P1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3KNT7

UniProtKB/Swiss-Prot:

NSN5B_HUMAN :
  • Q3KNT7
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.
genes like me logo Genes that share domains with NSUN5P1: view

No data available for Gene Families for NSUN5P1 Gene

Function for NSUN5P1 Gene

Enzyme Numbers (IUBMB) for NSUN5P1 Gene

Gene Ontology (GO) - Molecular Function for NSUN5P1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with NSUN5P1: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NSUN5P1

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for NSUN5P1 Gene

Localization for NSUN5P1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NSUN5P1 Gene COMPARTMENTS Subcellular localization image for NSUN5P1 gene
Compartment Confidence
nucleus 3
cytosol 2
extracellular 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for NSUN5P1 Gene

Pathways for NSUN5P1 Gene

SuperPathways for NSUN5P1 Gene

No Data Available

Interacting Proteins for NSUN5P1 Gene

Gene Ontology (GO) - Biological Process for NSUN5P1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with NSUN5P1: view

No data available for Pathways by source for NSUN5P1 Gene

Transcripts for NSUN5P1 Gene

Unigene Clusters for NSUN5P1 Gene

NOP2/Sun domain family, member 5 pseudogene 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NSUN5P1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NSUN5P1 Gene

No ASD Table

Relevant External Links for NSUN5P1 Gene

GeneLoc Exon Structure for
NSUN5P1
ECgene alternative splicing isoforms for
NSUN5P1

Expression for NSUN5P1 Gene

mRNA expression in normal human tissues for NSUN5P1 Gene

SOURCE GeneReport for Unigene cluster for NSUN5P1 Gene Hs.436034

mRNA Expression by UniProt/SwissProt for NSUN5P1 Gene

Q3KNT7-NSN5B_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expressions with NSUN5P1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein expression for NSUN5P1 Gene

Orthologs for NSUN5P1 Gene

Evolution for NSUN5P1 Gene

ENSEMBL:
Gene Tree for NSUN5P1 (if available)
TreeFam:
Gene Tree for NSUN5P1 (if available)

No data available for Orthologs for NSUN5P1 Gene

Paralogs for NSUN5P1 Gene

Selected SIMAP similar genes for NSUN5P1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NSUN5P1: view

No data available for Paralogs for NSUN5P1 Gene

Variants for NSUN5P1 Gene

Sequence variations from dbSNP and Humsavar for NSUN5P1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs95304 -- 75,416,202(-) GGCGC(A/C)CGCCC intron-variant
rs236641 -- 75,409,975(+) aaaaa(A/T)atata upstream-variant-2KB
rs236642 -- 75,410,017(+) atata(C/T)acaca upstream-variant-2KB
rs236649 -- 75,415,107(+) CTGTG(C/T)TCTGC intron-variant
rs236650 -- 75,415,153(+) ACCCC(C/T)GCCAG nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for NSUN5P1 Gene

Variant ID Type Subtype PubMed ID
nsv888381 CNV Gain 21882294
nsv528969 CNV Gain 19592680
dgv2102e1 CNV Complex 17122850
essv14753 CNV CNV 17122850
nsv831035 CNV Loss 17160897

Relevant External Links for NSUN5P1 Gene

HapMap Linkage Disequilibrium report
NSUN5P1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NSUN5P1 Gene

Disorders for NSUN5P1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for NSUN5P1 Gene including...

Search for NSUN5P1 Gene in MalaCards »

UniProtKB/Swiss-Prot

NSN5B_HUMAN
  • Note=NSUN5P1 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
genes like me logo Genes that share disorders with NSUN5P1: view

Publications for NSUN5P1 Gene

  1. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G. … Reymond A. (Hum. Genet. 2002) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for NSUN5P1 Gene

  • QIAGEN qRT-PCR Assays for microRNAs that regulate NSUN5P1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for NSUN5P1
    • Block miRNA regulation of NSUN5P1 using miScript Target Protectors

    Sources for NSUN5P1 Gene

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