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METTL27 methyltransferase like 27 [ Homo sapiens (human) ]

Gene ID: 155368, updated on 23-Nov-2021

Summary

Official Symbol
METTL27provided by HGNC
Official Full Name
methyltransferase like 27provided by HGNC
Primary source
HGNC:HGNC:19068
See related
Ensembl:ENSG00000165171 MIM:612546
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

See METTL27 in Genome Data Viewer
Location:
7q11.23
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (73834590..73842527, complement)
105.20201022 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 Sharpr-MPRA regulatory region 14121 Neighboring gene claudin 4 Neighboring gene transmembrane protein 270 Neighboring gene Sharpr-MPRA regulatory region 8209

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC40131

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

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_152559.3NP_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:72165
    Methyltransf_11; Methyltransferase domain
    cl17173
    Location:23108
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    73834590..73842527 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

RNA

  1. XR_001744563.1 RNA Sequence

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