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Aliases for NSUN5P1 Gene

Aliases for NSUN5P1 Gene

  • NOP2/Sun RNA Methyltransferase Family Member 5 Pseudogene 1 2 3 5
  • Williams Beuren Syndrome Chromosome Region 20B 2 3
  • NOP2/Sun Domain Family, Member 5 Pseudogene 1 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 3
  • 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 RNA Methyltransferase 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

Regulatory Elements for NSUN5P1 Gene

Promoters for NSUN5P1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NSUN5P1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NSUN5P1 Gene

75,410,322 bp from pter
75,416,792 bp from pter
6,471 bases
Plus strand

Genomic View for NSUN5P1 Gene

Genes around NSUN5P1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSUN5P1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSUN5P1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSUN5P1 Gene

Proteins for NSUN5P1 Gene

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

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

    Protein attributes for NSUN5P1 Gene

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

    Alternative splice isoforms for NSUN5P1 Gene


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 & Families 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



  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP 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

Phenotypes for NSUN5P1 Gene

GenomeRNAi human phenotypes for NSUN5P1:
genes like me logo Genes that share phenotypes with NSUN5P1: view

No data available for Molecular function , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NSUN5P1 Gene

Localization for NSUN5P1 Gene

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

Pathways & Interactions for NSUN5P1 Gene

SuperPathways for NSUN5P1 Gene

No Data Available

Interacting Proteins for NSUN5P1 Gene

Gene Ontology (GO) - Biological Process for NSUN5P1 Gene


No data available for Pathways by source and SIGNOR curated interactions for NSUN5P1 Gene

Drugs & Compounds for NSUN5P1 Gene

No Compound Related Data Available

Transcripts for NSUN5P1 Gene

Unigene Clusters for NSUN5P1 Gene

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

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

No ASD Table

Relevant External Links for NSUN5P1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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

Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns 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 , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for NSUN5P1 Gene

Orthologs for NSUN5P1 Gene

Evolution for NSUN5P1 Gene

Gene Tree for NSUN5P1 (if available)
Gene Tree for NSUN5P1 (if available)

No data available for Orthologs for NSUN5P1 Gene

Paralogs for NSUN5P1 Gene

(3) 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
rs236641 -- 75,409,975(+) aaaaa(A/T)atata upstream-variant-2KB
rs236642 -- 75,410,017(+) atata(C/T)acaca upstream-variant-2KB
rs236645 -- 75,412,876(+) ctgag(C/T)agctg nc-transcript-variant
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

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

Disorders for NSUN5P1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NSUN5P1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
- elite association - COSMIC cancer census association via MalaCards


  • 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.

Relevant External Links for NSUN5P1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with NSUN5P1: view

No data available for Genatlas for NSUN5P1 Gene

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 67
  2. 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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  4. 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
  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

Sources for NSUN5P1 Gene

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