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    METTL27 methyltransferase like 27 [ Homo sapiens (human) ]

    Gene ID: 155368, updated on 28-Oct-2024

    Summary

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    Official Symbol
    METTL27provided by HGNC
    Official Full Name
    methyltransferase like 27provided by HGNC
    Primary source
    HGNC:HGNC:19068
    See related
    Ensembl:ENSG00000165171 MIM:612546; AllianceGenome:HGNC:19068
    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
    WBSCR27
    Summary
    This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in kidney (RPKM 1.9), prostate (RPKM 1.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See METTL27 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73834590..73842516, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (75035482..75043363, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73248920..73256846, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene claudin 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:73213712-73214352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18267 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:73234209-73234787 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:73236582-73237781 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73241685-73242332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73242333-73242980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73245012-73245714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73245715-73246417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26130 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26131 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73270039-73270538 Neighboring gene claudin 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73284301-73285230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73285703-73286258 Neighboring gene transmembrane protein 270 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73313687-73314360 Neighboring gene Sharpr-MPRA regulatory region 8209 Neighboring gene Sharpr-MPRA regulatory region 9451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73414582-73415082 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:73417073-73418272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73440914-73441886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73442859-73443830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73447495-73448122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73448123-73448750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73465984-73466807 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73475944-73476444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73476445-73476945 Neighboring gene elastin Neighboring gene ELN antisense RNA 1

    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 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. Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder. Osborne LR. Mol Genet Metab, 1999 May. PMID 10329018
    2. Identification of nine human-specific frameshift mutations by comparative analysis of the human and the chimpanzee genome sequences. Hahn Y, et al. Bioinformatics, 2005 Jun. PMID 15961456
    3. Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. Micale L, et al. Eur J Hum Genet, 2008 Sep. PMID 18398435, Free PMC Article
    4. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924
    5. Phospho-tyrosine dependent protein-protein interaction network. Grossmann A, et al. Mol Syst Biol, 2015 Mar 26. PMID 25814554, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC40131

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    methyltransferase-like protein 27
    Names
    Williams Beuren syndrome chromosome region 27
    williams-Beuren syndrome chromosomal region 27 protein

    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.

    Genomic

    1. NG_023289.1 RefSeqGene

      Range
      5010..12936
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_152559.3 → NP_689772.2  methyltransferase-like protein 27

      See identical proteins and their annotated locations for NP_689772.2

      Status: REVIEWED

      Source sequence(s)
      AC093168
      Consensus CDS
      CCDS5561.1
      UniProtKB/Swiss-Prot
      Q8N6F8
      Related
      ENSP00000297873.4, ENST00000297873.9
      Conserved Domains (2) summary
      pfam08241
      Location:72 → 165
      Methyltransf_11; Methyltransferase domain
      cl17173
      Location:23 → 108
      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). ...

    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
      73834590..73842516 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011777.2 → XP_016867266.1  methyltransferase-like protein 27 isoform X1

    2. XM_017011778.2 → XP_016867267.1  methyltransferase-like protein 27 isoform X1

    RNA

    1. XR_001744563.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      75035482..75043363 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357359.1 → XP_054213334.1  methyltransferase-like protein 27 isoform X1

    2. XM_054357360.1 → XP_054213335.1  methyltransferase-like protein 27 isoform X1

    RNA

    1. XR_008487536.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N6F8.2 GenPept UniProtKB/Swiss-Prot:Q8N6F8

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