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METTL27 methyltransferase like 27 [ Homo sapiens (human) ]

Gene ID: 155368, updated on 11-Apr-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
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Genomic context

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Location:
7q11.23
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73834590..73842516, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (75035482..75043363, complement)
105.20220307 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
  • 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 (11) 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 
Process Evidence Code Pubs
involved_in metabolic process IEA
Inferred from Electronic Annotation
more info
  

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_2023_10

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

Gene LinkOut

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