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    NSUN4 NOP2/Sun domain family, member 4 [ Homo sapiens ]

    Gene ID: 387338, updated on 11-May-2012
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    Summary

    Official Symbol
    NSUN4provided by HGNC
    Official Full Name
    NOP2/Sun domain family, member 4provided by HGNC
    Primary source
    HGNC:31802
    See related
    Ensembl:ENSG00000117481; HPRD:14842; Vega:OTTHUMG00000007808
    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
    Also known as
    SHTAP; RP4-603I14.2; FLJ18051; MGC22960
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    Genomic context

    Location :
    1p34
    Sequence :
    Chromosome: 1; NC_000001.10 (46806390..46830690)
    See NSUN4 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene RAD54-like (S. cerevisiae) Neighboring gene leucine rich repeat containing 41 Neighboring gene ubiquinol-cytochrome c reductase hinge protein Neighboring gene fatty acid amide hydrolase Neighboring gene fatty acid amide hydrolase pseudogene

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    2. Network organization of the human autophagy system. Behrends C, et al. Nature, 2010 Jul 1. PMID 20562859.
    3. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. Richter R, et al. EMBO J, 2010 Mar 17. PMID 20186120.
    4. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. Gratacòs M, et al. Am J Med Genet B Neuropsychiatr Genet, 2009 Sep 5. PMID 19086053.
    5. 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.

    See all (9) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NSUN4 Q01844 EWSR1    HPRD  PubMed  
    NSUN4 P43364 MAGEA11    HPRD  PubMed  
    BioGRID:132288 BioGRID:108431 EWSR1    BioGRID  PubMed Two-hybrid 
    BioGRID:132288 BioGRID:109622 ICT1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:132288 BioGRID:123873 KBTBD7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:132288 BioGRID:110284 MAGEA11    BioGRID  PubMed Two-hybrid 
    BioGRID:132288 BioGRID:114397 SQSTM1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:132288 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Potential readthrough

    Included gene: FAAH

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    mitochondrial large ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    		  
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    General protein information

    Preferred Names
    putative methyltransferase NSUN4
    Names
    putative methyltransferase NSUN4
    NOL1/NOP2/Sun domain family member 4
    sperm head and tail associated protein
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    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_001256127.1 → NP_001243056.1  putative methyltransferase NSUN4 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AK057420, AL122001, BM665392, DA905308
      UniProtKB/TrEMBL
      B3KQ50
      UniProtKB/TrEMBL
      B4DHA4
      Conserved Domains (1) summary
      cd02440
      Location:128 – 259
      Blast Score: 115
      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_001256128.1 → NP_001243057.1  putative methyltransferase NSUN4 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AK292353, AL122001, BM665392, DA905308
      UniProtKB/TrEMBL
      A8K8I8
      UniProtKB/TrEMBL
      B4DHA4
      Conserved Domains (1) summary
      cd02440
      Location:128 – 259
      Blast Score: 115
      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_199044.3 → NP_950245.2  putative methyltransferase NSUN4 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AK291741, AL122001, BG821302, BM665392, CF593490
      Consensus CDS
      CCDS534.1
      UniProtKB/Swiss-Prot
      Q96CB9
      Related
      ENSP00000419740, OTTHUMP00000009478, ENST00000474844, OTTHUMT00000021427
      Conserved Domains (1) summary
      cd02440
      Location:177 – 308
      Blast Score: 114
      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. NR_045789.1 RNA Sequence

      Description
      Transcript Variant: This variant (4) includes an additional exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK295003, AL122001, BG821302, BM665392, CF593490

    2. NR_045790.1 RNA Sequence

      Description
      Transcript Variant: This variant (5) lacks an exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL122001, BG821302, BM665392, BX648592, CF593490

    3. NR_045791.1 RNA Sequence

      Description
      Transcript Variant: This variant (6) uses an alternate splice site and lacks an exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK291741, AL122001, BG821302, BM665392, CF593490, DA799314

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      46806390..46830690
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      44922019..44946313
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL122001.32 CAI21962.1
    genomic CH471059.2 EAX06917.1
      EAX06920.1
    mRNA AK021577.1 BAB13847.1
    mRNA AK057420.1 BAG51912.1
    mRNA AK097524.1 BAG53482.1
    mRNA AK128066.1 BAC87258.1
    mRNA AK291741.1 BAF84430.1
    mRNA AK292353.1 BAF85042.1
    mRNA AK295003.1 BAG58065.1
    mRNA AK311009.1 None
    mRNA BC014441.1 AAH14441.1
    mRNA BC016907.1 AAH16907.1
    mRNA BE542166.1 None
    mRNA BG821302.1 None
    mRNA BM153143.1 None
    mRNA BM665392.1 None
    mRNA BM888153.1 None
    mRNA BM994678.1 None
    mRNA BU536211.1 None
    mRNA BX360729.2 None
    mRNA BX648592.1 None
    mRNA CF593490.1 None
    mRNA DA799314.1 None
    mRNA DA905308.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZRQ1 GenPept UniProtKB/TrEMBL:Q6ZRQ1
    Q96CB9.2 GenPept UniProtKB/Swiss-Prot:Q96CB9
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    Additional Links

    Gene LinkOut

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

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