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NSUN7 NOP2/Sun RNA methyltransferase family member 7 [ Homo sapiens (human) ]

Gene ID: 79730, updated on 7-Apr-2024

Summary

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Official Symbol
NSUN7provided by HGNC
Official Full Name
NOP2/Sun RNA methyltransferase family member 7provided by HGNC
Primary source
HGNC:HGNC:25857
See related
Ensembl:ENSG00000179299 MIM:617185; AllianceGenome:HGNC:25857
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable RNA binding activity and methyltransferase activity. Predicted to be involved in methylation. Predicted to act upstream of or within flagellated sperm motility and sperm mitochondrion organization. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 10.8), thyroid (RPKM 2.4) and 19 other tissues See more
Orthologs
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Genomic context

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Location:
4p14
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (40749955..40811184)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (40723823..40785135)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (40751972..40813201)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 47 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:40517897-40518207 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:40527595-40528394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:40528395-40529195 Neighboring gene ribosomal protein L37 pseudogene 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15379 Neighboring gene microRNA 4802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:40563453-40563953 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:40564097-40564607 Neighboring gene NANOG hESC enhancer GRCh37_chr4:40566953-40567529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21492 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:40583996-40584174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:40593988-40594488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:40597457-40597958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21493 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:40621147-40621674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15380 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15381 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:40630738-40631614 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:40631615-40632492 Neighboring gene NANOG hESC enhancer GRCh37_chr4:40663700-40664205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21495 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:40674299-40675498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21497 Neighboring gene NANOG hESC enhancer GRCh37_chr4:40700528-40701301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21501 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:40809683-40810183 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:40837789-40838358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21503 Neighboring gene NANOG hESC enhancer GRCh37_chr4:40842967-40843468 Neighboring gene ADP ribosylation factor like GTPase 4A pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15382 Neighboring gene small nucleolar RNA U13 Neighboring gene amyloid beta precursor protein binding family B member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:40899403-40899903 Neighboring gene Sharpr-MPRA regulatory region 7650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15383 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:40968186-40969148 Neighboring gene RNA, 5S ribosomal pseudogene 160

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. Epigenetic inactivation of the 5-methylcytosine RNA methyltransferase NSUN7 is associated with clinical outcome and therapeutic vulnerability in liver cancer. Ortiz-Barahona V, et al. Mol Cancer, 2023 May 12. PMID 37173708, Free PMC Article
  2. Investigation of polymorphisms in exon7 of the NSUN7 gene among Chinese Han men with asthenospermia. Ren HY, et al. Genet Mol Res, 2015 Aug 10. PMID 26345859
  3. The Nsun7 (A11337)-deletion mutation, causes reduction of its protein rate and associated with sperm motility defect in infertile men. Khosronezhad N, et al. J Assist Reprod Genet, 2015 May. PMID 25702163, Free PMC Article
  4. T26248G-transversion mutation in exon7 of the putative methyltransferase Nsun7 gene causes a change in protein folding associated with reduced sperm motility in asthenospermic men. Khosronezhad N, et al. Reprod Fertil Dev, 2015 Mar. PMID 24384068
  5. Sperm motility defects and infertility in male mice with a mutation in Nsun7, a member of the Sun domain-containing family of putative RNA methyltransferases. Harris T, et al. Biol Reprod, 2007 Aug. PMID 17442852

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Epigenetic inactivation of the 5-methylcytosine RNA methyltransferase NSUN7 is associated with clinical outcome and therapeutic vulnerability in liver cancer.
    Title: Epigenetic inactivation of the 5-methylcytosine RNA methyltransferase NSUN7 is associated with clinical outcome and therapeutic vulnerability in liver cancer.
  2. mutant protein structures of Nsun7 indicated that the amino acid serine was converted to alanine, the structure of the helix, coil and strand was changed, and the protein folding and ligand binding sites were changed in samples from asthenospermic men with a transversion mutation in exon 7, indicating impairment of protein function. Because Nsun7 plays a role in sperm motility, mutation in exon 7 may lead to infertility.
    Title: T26248G-transversion mutation in exon7 of the putative methyltransferase Nsun7 gene causes a change in protein folding associated with reduced sperm motility in asthenospermic men.
  3. Our findings revealed that genetic polymorphisms in exon7 of the NSUN7 gene are not associated with asthenospermia in Chinese Han men.
    Title: Investigation of polymorphisms in exon7 of the NSUN7 gene among Chinese Han men with asthenospermia.
  4. Nsun7 (A11337)-deletion mutation, causes reduction of its protein rate and associated with sperm motility defect in infertile men.
    Title: The Nsun7 (A11337)-deletion mutation, causes reduction of its protein rate and associated with sperm motility defect in infertile men.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ14001

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IEA
Inferred from Electronic Annotation
more info
  
enables methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in methylation IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
putative methyltransferase NSUN7
Names
NOL1/NOP2/Sun domain family member 7
NOP2/Sun domain family, member 7

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.

mRNA and Protein(s)

  1. NM_001330648.3 → NP_001317577.1  putative methyltransferase NSUN7 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC131953
    Consensus CDS
    CCDS82917.1
    UniProtKB/Swiss-Prot
    Q8NE18
    Related
    ENSP00000319127.5, ENST00000316607.5

  2. NM_024677.6 → NP_078953.4  putative methyltransferase NSUN7 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC131953
    Consensus CDS
    CCDS3461.2
    UniProtKB/Swiss-Prot
    C9JI19, Q8N9K8, Q8NE18, Q9H815
    UniProtKB/TrEMBL
    B4E1Z6
    Related
    ENSP00000371201.2, ENST00000381782.7
    Conserved Domains (1) summary
    cl25484
    Location:131 → 509
    Methyltr_RsmF_N; N-terminal domain of 16S rRNA methyltransferase RsmF

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    40749955..40811184
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008611.3 → XP_016864100.1  putative methyltransferase NSUN7 isoform X1

    UniProtKB/TrEMBL
    B4E1Z6

  2. XM_047416171.1 → XP_047272127.1  putative methyltransferase NSUN7 isoform X3

  3. XM_017008612.3 → XP_016864101.1  putative methyltransferase NSUN7 isoform X2

    UniProtKB/TrEMBL
    B4E1Z6

  4. XM_047416175.1 → XP_047272131.1  putative methyltransferase NSUN7 isoform X6

  5. XM_017008615.2 → XP_016864104.1  putative methyltransferase NSUN7 isoform X5

  6. XM_047416172.1 → XP_047272128.1  putative methyltransferase NSUN7 isoform X4

  7. XM_047416174.1 → XP_047272130.1  putative methyltransferase NSUN7 isoform X4

  8. XM_047416173.1 → XP_047272129.1  putative methyltransferase NSUN7 isoform X4

RNA

  1. XR_007057964.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    40723823..40785135
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350832.1 → XP_054206807.1  putative methyltransferase NSUN7 isoform X1

  2. XM_054350834.1 → XP_054206809.1  putative methyltransferase NSUN7 isoform X3

  3. XM_054350833.1 → XP_054206808.1  putative methyltransferase NSUN7 isoform X2

  4. XM_054350839.1 → XP_054206814.1  putative methyltransferase NSUN7 isoform X6

  5. XM_054350838.1 → XP_054206813.1  putative methyltransferase NSUN7 isoform X5

  6. XM_054350835.1 → XP_054206810.1  putative methyltransferase NSUN7 isoform X4

  7. XM_054350837.1 → XP_054206812.1  putative methyltransferase NSUN7 isoform X4

  8. XM_054350836.1 → XP_054206811.1  putative methyltransferase NSUN7 isoform X4

RNA

  1. XR_008487030.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NE18.4 GenPept UniProtKB/Swiss-Prot:Q8NE18

Gene LinkOut

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