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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NSUN5P1 Gene

pseudogene   GIFtS: 32
GCID: GC07P075039

NOP2/Sun Domain Family, Member 5 Pseudogene 1

(Previous names: NOL1/NOP2/Sun domain family, member 5B, NOP2/Sun domain...)
(Previous symbol: NSUN5B)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
NOP2/Sun Domain Family, Member 5 Pseudogene 11 2     NOP2/Sun Domain Family, Member 5B (Pseudogene)1
NSUN5B1 2 3     NOP2/Sun Domain Family, Member 5B, Pseudogene1
WBSCR20B2 3     Williams Beuren Syndrome Chromosome Region 20B1
NOL1/NOP2/Sun Domain Family, Member 5B1     Williams-Beuren Syndrome Chromosomal Region 20B Protein3
NOP2/Sun Domain Family, Member 5B1     

External Ids:    HGNC: 191461   Entrez Gene: 1554002   Ensembl: ENSG000002237057   UniProtKB: Q3KNT73   
ORGUL members:         
NONCODE14:n409170      

Export aliases for NSUN5P1 gene to outside databases

Previous GC identifer: GC07P074376


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and is affiliated with the lncRNA class. Diseases associated with NSUN5P1 include williams-beuren syndrome.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079595.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for NSUN5P1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): NSUN5P1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NSUN5P1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NSUN5P1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

NSUN5P1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NSUN5P1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P075039:  view genomic region     (about GC identifiers)

Start:
75,039,605 bp from pter      End:
75,046,066 bp from pter
Size:
6,462 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 74,372,688-74,379,129     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NSN5B_HUMAN, Q3KNT7 (See protein sequence)
Recommended Name: Putative NOL1/NOP2/Sun domain family member 5B  
Size: 163 amino acids; 17679 Da
Caution: Could be the product of a pseudogene
Secondary accessions: B3KX24 Q52LC6 Q8N728
Alternative splicing: 3 isoforms:  Q3KNT7-1   Q3KNT7-2   Q3KNT7-3   

Explore the universe of human proteins at neXtProt for NSUN5P1: NX_Q3KNT7

Explore proteomics data for NSUN5P1 at MOPED 

NSUN5P1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

NSUN5P1 Protein Expression

Human Recombinant Protein Products for NSUN5P1: 

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
2 InterPro protein domains:
 IPR023267 RCMT
 IPR001678 Fmu/NOL1/Nop2p

Graphical View of Domain Structure for InterPro Entry Q3KNT7

ProtoNet protein and cluster: Q3KNT7

UniProtKB/Swiss-Prot: NSN5B_HUMAN, Q3KNT7
Similarity: Belongs to the methyltransferase superfamily. RsmB/NOP family


NSUN5P1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

     Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003723RNA binding IEA--
GO:0008168methyltransferase activity IEA--
     
NSUN5P1 for ontologies           About GeneDecksing


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miRNA
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Inhib. RNA
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NSUN5P1

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NSUN5P1 (NSN5B)

Search CenterWatch for drugs/clinical trials and news about NSUN5P1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NSUN5P1 gene (2 alternative transcripts): 
NM_001039575.1  NM_001039576.1  

Unigene Cluster for NSUN5P1:

NOP2/Sun domain family, member 5 pseudogene 1
Hs.436034  [show with all ESTs]
Unigene Representative Sequence: AK128374
9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000473960 ENST00000393633 ENST00000457988 ENST00000455158 ENST00000421140
ENST00000422386 ENST00000464979 ENST00000428392(uc003udh.1) ENST00000427550

miRNA
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Inhib. RNA
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                     Customized lentivirus expression plasmids for stable overexpression of NSUN5P1 
Primer
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NSUN5P1
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NSUN5P1

Additional mRNA sequence: 

AF416610.1 AK128374.1 BC044928.1 BC065512.1 BC080602.1 BC088379.1 BC093978.1 BC103750.1 
BC107112.1 NR_033322.2 

24/52 DOTS entries (see all 52):

DT.100878795  DT.100059436  DT.95170473  DT.95221395  DT.92469777  DT.121117011  DT.100670167  DT.121117021 
DT.101971500  DT.121058065  DT.121117113  DT.100059440  DT.121057923  DT.92471354  DT.102838696  DT.121116766 
DT.121117038  DT.100878805  DT.121116606  DT.121117132  DT.86845764  DT.92407180  DT.100878796  DT.102838691 

24/30 AceView cDNA sequences (see all 30):

AF416610 AU118709 BI767767 CB164817 AI903942 NM_145645 BM741799 BC065512 
BE791090 AW152071 BM744514 AI435115 BM741853 AI355420 BM766253 AI217271 
AK126486 BM784311 BM742756 AI620547 AI903913 AI521647 AI567828 BX476836 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NSUN5P1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTTGGGAGGC
NSUN5P1 Expression
About this image


See NSUN5P1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NSUN5P1

SOURCE GeneReport for Unigene cluster: Hs.436034

UniProtKB/Swiss-Prot: NSN5B_HUMAN, Q3KNT7
Tissue specificity: Ubiquitous

    SABiosciences Custom PCR Arrays for NSUN5P1
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QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NSUN5P1
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NSUN5P1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSUN5P1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section
  --

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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for NSUN5P1 gene
3 SIMAP similar genes for NSUN5P1 using alignment to 1 protein entry:     NSN5B_HUMAN:
NSUN5P2    NSUN5    NSUN5C

NSUN5P1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/84 SNPs in NSUN5P1 are shown (see all 84)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs3743942801,2
C--75037774(+) TGTGTC/GAACTG 1 -- us2k10--------
rs774978271,2
C--75038408(+) TCCTCA/GCTGGG 1 -- us2k10--------
rs1811364831,2
--75038732(+) CATCAC/TTTAAT 1 -- us2k10--------
rs1865070581,2
--75038748(+) CAAACC/TGGCCC 1 -- us2k10--------
rs1900231221,2
C--75038800(+) TCTGGA/GACTAA 1 -- us2k10--------
rs2013071331,2
C--75039244(+) GTCTG-/AAAAAAA 1 -- us2k10--------
rs609077681,2
--75039258(+) AAAAAA/TATATA 1 -- us2k10--------
rs1997424381,2
--75039290(+) CACAC-/ATATATA 1 -- us2k10--------
rs1128482691,2
C--75039300(+) ATATAC/TACACA 1 -- us2k10--------
rs1865361471,2
--75042087(+) CTGGCA/GCGATC 1 -- nc-transcript-variant0--------

HapMap Linkage Disequilibrium report for NSUN5P1 (75039605 - 75046066 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for NSUN5P1:    About this table     
Variant IDTypeSubtypePubMed ID
nsv831035CNV Loss17160897
nsv528969CNV Gain19592680
nsv888381CNV Gain21882294
essv14753CNV CNV17122850
dgv2102e1CNV Complex17122850

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
UniProtKB/Swiss-Prot: NSN5B_HUMAN, Q3KNT7
  • 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

  • 2 diseases for NSUN5P1:    About MalaCards
    williams-beuren syndrome    


    NSUN5P1 for disorders           About GeneDecksing


    Export disorders for NSUN5P1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NSUN5P1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with NSUN5P1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PubMed id 12073013)1, 2, 3 Merla G....Reymond A. (2002)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    6. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. (PubMed id 11978965)1 Doll A. and Grzeschik K.-H. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 155400 HGNC: 19146 AceView: WBSCR20B Ensembl:ENSG00000223705 euGenes: HUgn155400
    ECgene: NSUN5P1 H-InvDB: NSUN5P1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NSUN5P1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NSUN5P1 gene:
    Search GeneIP for patents involving NSUN5P1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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