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

    Gene ID: 79730, updated on 27-Dec-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 RNA methylation and RNA processing. Predicted to act upstream of or within flagellated sperm motility and sperm mitochondrion organization. [provided by Alliance of Genome Resources, Dec 2024]
    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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    See NSUN7 in Genome Data Viewer
    Location:
    4p14
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (40749955..40811184)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (40723823..40785135)
    RS_2024_09 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 ARF 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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 (15) 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)

    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 RNA methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in RNA processing 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_2024_08

    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

      UniProtKB/TrEMBL
      B4E1Z6

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

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

      UniProtKB/TrEMBL
      B4E1Z6

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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