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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. Gene Ontology (GO) annotations related to this gene include RNA binding and methyltransferase activity.

Additional gene information for NSUN5P1 Gene

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

Genomics for NSUN5P1 Gene

GeneHancer (GH) Regulatory Elements for NSUN5P1 Gene

Promoters and enhancers for NSUN5P1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I075409 Promoter 0.8 Ensembl 550.8 +0.2 179 1.4 L3MBTL2 GABPB1 NR2C1 ZBTB40 E4F1 MGA NSUN5P1 PIR40068 TRIM73
GH07I074635 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 52.5 -774.3 -774286 2 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A ZNF48 ETS1 FOS ZNF202 REST PMS2P3 STAG3L1 NSUN5P1 MIR590 SPDYE5 METTL27 GTF2IRD2 GTF2IRD2B LOC101926943 BUD23
GH07I076313 Enhancer 1.5 Ensembl ENCODE dbSUPER 42.5 +904.0 904017 1.4 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A ZNF2 IRF4 YY1 STAG3L1 PMS2P3 FAM185BP NSUN5P1 SPDYE18 SPDYE5 POMZP3 PMS2P9 SPDYE17 LOC100422695
GH07I075877 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 22.4 +468.7 468744 3.1 HDGF ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 SLC30A9 POLR2B RHBDD2 STAG3L1 PMS2P3 NSUN5P1 MDH2 SPDYE5 ENSG00000214243 CCL24 STYXL1 POR
GH07I075937 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 22.6 +528.1 528078 2.2 HDGF PKNOX1 ARNT SIN3A ZNF766 E2F8 FOS ZNF592 MEF2D SMARCA4 NSUN5P1 POR PMS2P3 STAG3L1 GTF2IRD2B LOC100133091 SPDYE5 POMZP3 STYXL1 RHBDD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NSUN5P1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for NSUN5P1 Gene

Genomic Locations for NSUN5P1 Gene
chr7:75,410,322-75,416,792
(GRCh38/hg38)
Size:
6,471 bases
Orientation:
Plus strand
chr7:75,039,605-75,046,066
(GRCh37/hg19)

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:
    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

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

Q3KNT7

UniProtKB/Swiss-Prot:

NSN5B_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.
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:0008173 RNA methyltransferase activity IBA --
GO:0008757 S-adenosylmethionine-dependent methyltransferase activity IBA --
genes like me logo Genes that share ontologies with NSUN5P1: view

Phenotypes for NSUN5P1 Gene

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

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NSUN5P1 Gene

Localization for NSUN5P1 Gene

Gene Ontology (GO) - Cellular Components for NSUN5P1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IBA --
genes like me logo Genes that share ontologies with NSUN5P1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0070475 rRNA base methylation IBA --
genes like me logo Genes that share ontologies with NSUN5P1: view

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:

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for NSUN5P1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NSUN5P1 Gene:

NSUN5P1

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 expression patterns with NSUN5P1: view

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 , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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

(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 Variation AA Info Type
rs10254705 -- 75,416,531(+) C/T non_coding_transcript_variant
rs10256823 -- 75,414,598(+) G/A intron_variant
rs10274719 -- 75,414,832(+) A/G intron_variant
rs10278122 -- 75,414,620(+) T/C intron_variant
rs1044810 -- 75,416,723(+) C/T non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv528969 CNV gain 19592680
nsv831035 CNV loss 17160897
nsv981535 CNV duplication 23825009

Additional Variant Information for NSUN5P1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NSUN5P1

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
  • wbs
- elite association - COSMIC cancer census association via 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.

Additional Disease Information for NSUN5P1

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 (Human genetics 2002) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. 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 58
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for NSUN5P1 Gene

Sources for NSUN5P1 Gene

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