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    NSUN5P1 NSUN5 pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 155400, updated on 14-Nov-2024

    Summary

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    Official Symbol
    NSUN5P1provided by HGNC
    Official Full Name
    NSUN5 pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:19146
    See related
    Ensembl:ENSG00000291151 AllianceGenome:HGNC:19146
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NSUN5B; WBSCR20B
    Summary
    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]
    Expression
    Ubiquitous expression in duodenum (RPKM 21.4), lymph node (RPKM 19.5) and 25 other tissues See more
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    Genomic context

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    See NSUN5P1 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (75410322..75416792)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (76697606..76704072)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (75039605..75046071)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75024300-75024907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75024908-75025514 Neighboring gene FKBP6 pseudogene 2 Neighboring gene tripartite motif containing 73 Neighboring gene uncharacterized LOC124901676 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75039418-75040358 Neighboring gene POM121 transmembrane nucleoporin C Neighboring gene 7q11.23 proximal recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18294 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75083199-75083700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18295 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75115301-75115800 Neighboring gene speedy/RINGO cell cycle regulator family member E5 Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18297 Neighboring gene Sharpr-MPRA regulatory region 5953

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. Doll A, et al. Cytogenet Cell Genet, 2001. PMID 11978965
    2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. Merla G, et al. Hum Genet, 2002 May. PMID 12073013
    3. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • NOL1/NOP2/Sun domain family, member 5B
    • NOP2/Sun RNA methyltransferase family member 5 pseudogene 1
    • NOP2/Sun domain family, member 5 pseudogene 1
    • NOP2/Sun domain family, member 5B, pseudogene
    • Williams Beuren syndrome chromosome region 20B
    • Williams-Beuren Syndrome critical region protein 20 copy B

    Clone Names

    • FLJ99347, MGC129801

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables S-adenosylmethionine-dependent methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    RNA

    1. NR_033322.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate internal exon and lacks two alternate internal segments, resulting in a shorter transcript, compared to variant 4.
      Source sequence(s)
      AC211429, AF416610, AI265798, AW575486, BC044928, BX400367

    2. NR_104013.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents the longer transcript.
      Source sequence(s)
      AC211429, AI265798, AK094312, BC044928, BX400367
      Related
      ENST00000457988.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      75410322..75416792
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      76697606..76704072
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001039575.1: Suppressed sequence

      Description
      NM_001039575.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

    2. NM_001039576.1: Suppressed sequence

      Description
      NM_001039576.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3KNT7.1 GenPept UniProtKB/Swiss-Prot:Q3KNT7

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