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

Gene ID: 55695, updated on 6-Jan-2019

Summary

Official Symbol
NSUN5provided by HGNC
Official Full Name
NOP2/Sun RNA methyltransferase family member 5provided by HGNC
Primary source
HGNC:HGNC:16385
See related
Ensembl:ENSG00000130305 MIM:615732
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

Genomic context

See NSUN5 in Genome Data Viewer
Location:
7q11.23
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (73302516..73308867, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (72716513..72722864, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Williams-Beuren syndrome centromeric block B recombination region Neighboring gene neutrophil cytosolic factor 1B pseudogene Neighboring gene GTF2I repeat domain containing 2 pseudogene 1 Neighboring gene POM121 transmembrane nucleoporin B (pseudogene) Neighboring gene tripartite motif containing 50 Neighboring gene RNA, U6 small nuclear 1080, pseudogene Neighboring gene FKBP prolyl isomerase 6

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC986, FLJ10267

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
rRNA base methylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
probable 28S rRNA (cytosine-C(5))-methyltransferase
Names
NOL1-related protein
NOL1/NOP2/Sun domain 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
putative methyltransferase NSUN5

NCBI Reference Sequences (RefSeq)

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_001168347.2NP_001161819.1  probable 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/Swiss-Prot
    Q96P11
    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_001168348.2NP_001161820.1  probable 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/Swiss-Prot
    Q96P11
    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_018044.4NP_060514.1  probable 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
    Q96P11
    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_148956.3NP_683759.1  probable 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/Swiss-Prot
    Q96P11
    Related
    ENSP00000388464.2, ENST00000438747.6
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    73302516..73308867 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005277604.5XP_005277661.1  probable 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). ...

RNA

  1. XR_242255.5 RNA Sequence

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