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    NSUN5 NOP2/Sun RNA methyltransferase 5 [ Homo sapiens (human) ]

    Gene ID: 55695, updated on 2-Nov-2024

    Summary

    Official Symbol
    NSUN5provided by HGNC
    Official Full Name
    NOP2/Sun RNA methyltransferase 5provided by HGNC
    Primary source
    HGNC:HGNC:16385
    See related
    Ensembl:ENSG00000130305 MIM:615732; AllianceGenome:HGNC:16385
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NOL1; p120; NOL1R; NSUN5A; WBSCR20; WBSCR20A; p120(NOL1)
    Summary
    This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in bone marrow (RPKM 17.7), lymph node (RPKM 12.4) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See NSUN5 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73302516..73308826, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74502674..74508983, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (72716513..72722823, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Williams-Beuren syndrome centromeric block B recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18245 Neighboring gene neutrophil cytosolic factor 1B (pseudogene) Neighboring gene GTF2I repeat domain containing 2 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72661597-72662585 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:72698447-72699037 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:72711681-72712181 Neighboring gene POM121 transmembrane nucleoporin B (pseudogene) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72732543-72733436 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72733437-72734329 Neighboring gene ribosomal protein L7a pseudogene 77 Neighboring gene tripartite motif containing 50 Neighboring gene RNA, U6 small nuclear 1080, pseudogene Neighboring gene FKBP prolyl isomerase family member 6 (inactive)

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC986, FLJ10267

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cerebral cortex development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cognition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in corpus callosum development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in oligodendrocyte development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of translation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in rRNA base methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in rRNA base methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of myelination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    28S rRNA (cytosine-C(5))-methyltransferase
    Names
    NOL1-related protein
    NOL1/NOP2/Sun domain family member 5
    NOP2/Sun RNA methyltransferase family member 5
    NOP2/Sun domain family, member 5
    NOP2/Sun domain family, member 5A
    Williams Beuren syndrome chromosome region 20A
    Williams-Beuren syndrome chromosomal region 20A protein
    Williams-Beuren syndrome critical region protein 20 copy A
    probable 28S rRNA (cytosine-C(5))-methyltransferase
    putative methyltransferase NSUN5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001168347.3NP_001161819.1  28S rRNA (cytosine-C(5))-methyltransferase isoform 3

      See identical proteins and their annotated locations for NP_001161819.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) is longer and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK126375, AK298221, BM144254, CB154882, CX866878, EC442348
      Consensus CDS
      CCDS55119.1
      UniProtKB/TrEMBL
      B2RD09
      Related
      ENSP00000309126.8, ENST00000310326.8
      Conserved Domains (2) summary
      COG0144
      Location:95425
      RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
      cl17173
      Location:219420
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    2. NM_001168348.3NP_001161820.1  28S rRNA (cytosine-C(5))-methyltransferase isoform 4

      See identical proteins and their annotated locations for NP_001161820.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region and includes an alternate segment in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK001129, AK126375, BM144254, CB154882, CX866878, EC442348
      Consensus CDS
      CCDS55118.1
      UniProtKB/TrEMBL
      B2RD09
      Related
      ENSP00000393081.1, ENST00000428206.5
      Conserved Domains (3) summary
      COG0144
      Location:29387
      RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
      cl07405
      Location:77114
      DP_DD; Dimerization domain of DP
      cl17173
      Location:181382
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    3. NM_018044.5NP_060514.1  28S rRNA (cytosine-C(5))-methyltransferase isoform 2

      See identical proteins and their annotated locations for NP_060514.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate segment in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK001129, AK126375, BM144254, CB154882, CX866878, EC442348
      Consensus CDS
      CCDS5547.1
      UniProtKB/Swiss-Prot
      B3KX04, B4DP79, G3V0G9, Q6ZUI8, Q96HT9, Q96P11, Q9NW70
      UniProtKB/TrEMBL
      B2RD09
      Related
      ENSP00000252594.6, ENST00000252594.10
      Conserved Domains (2) summary
      COG0144
      Location:95425
      RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
      cl17173
      Location:219420
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    4. NM_148956.4NP_683759.1  28S rRNA (cytosine-C(5))-methyltransferase isoform 1

      See identical proteins and their annotated locations for NP_683759.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AK126375, BC008084, BM144254, CB154882, CX866878, EC442348
      Consensus CDS
      CCDS5546.1
      UniProtKB/TrEMBL
      B2RD09
      Related
      ENSP00000388464.2, ENST00000438747.7
      Conserved Domains (1) summary
      COG0144
      Location:95425
      RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]

    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
      73302516..73308826 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005277604.6XP_005277661.1  28S rRNA (cytosine-C(5))-methyltransferase isoform X1

      Conserved Domains (2) summary
      cl07405
      Location:115152
      DP_DD; Dimerization domain of DP
      cl17173
      Location:219254
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      74502674..74508983 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358631.1XP_054214606.1  28S rRNA (cytosine-C(5))-methyltransferase isoform X1