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UniProtKB - Q8N6F8 (MET27_HUMAN)

Entry version 124 (13 Nov 2019)
Sequence version 2 (18 May 2010)
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Protein

Methyltransferase-like protein 27

Gene

METTL27

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Methyltransferase-like protein 27Imported
Alternative name(s):
Williams-Beuren syndrome chromosomal region 27 proteinImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:METTL27Imported
Synonyms:WBSCR27Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:19068 METTL27

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612546 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8N6F8

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

METTL27 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of METTL27 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.1 Publication

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

Open Targets

More...OpenTargetsi		ENSG00000165171

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134905115

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8N6F8

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		METTL27

Domain mapping of disease mutations (DMDM)

More...DMDMi		296453033

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002239611 – 245Methyltransferase-like protein 27Add BLAST245

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8N6F8

PeptideAtlas

More...PeptideAtlasi		Q8N6F8

PRoteomics IDEntifications database

More...PRIDEi		Q8N6F8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		72165

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8N6F8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8N6F8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000165171 Expressed in 94 organ(s), highest expression level in right uterine tube

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8N6F8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8N6F8 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA022420

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
Q925693EBI-8487781,EBI-79893

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		127581, 4 interactors

Protein interaction database and analysis system

More...IntActi		Q8N6F8, 31 interactors

Molecular INTeraction database

More...MINTi		Q8N6F8

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000297873

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8N6F8

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1541 Eukaryota
COG0500 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00530000063975

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000030902

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8N6F8

Identification of Orthologs from Complete Genome Data

More...OMAi		FTISHAP

Database of Orthologous Groups

More...OrthoDBi		785883at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8N6F8

TreeFam database of animal gene trees

More...TreeFami		TF329435

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR041698 Methyltransf_25
IPR029063 SAM-dependent_MTases

Pfam protein domain database

More...Pfami		View protein in Pfam
PF13649 Methyltransf_25, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53335 SSF53335, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q8N6F8-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAQEEGGSLP EVRARVRAAH GIPDLAQKLH FYDRWAPDYD QDVATLLYRA 
        60         70         80         90        100
PRLAVDCLTQ ALPGPPHSAL ILDVACGTGL VAAELRAPGF LQLHGVDGSP 
       110        120        130        140        150
GMLEQAQAPG LYQRLSLCTL GQEPLPSPEG TFDAVLIVGA LSDGQVPCNA 
       160        170        180        190        200
IPELHVTKPG GLVCLTTRTN SSNLQYKEAL EATLDRLEQA GMWEGLVAWP 
       210        220        230        240 
VDRLWTAGSW LPPSWRWYPA SLPRMASSPA LSTCTESGRR PRLRK
Length:245
Mass (Da):26,522
Last modified:May 18, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB63EAA80942533F7
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DWM3B4DWM3_HUMAN
Methyltransferase-like protein 27
METTL27
90Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti216R → W in AAN63884 (Ref. 1) Curated1
Sequence conflicti216R → W in AAQ55828 (PubMed:18398435).Curated1
Sequence conflicti216R → W in AAH30295 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_060385107Q → R3 PublicationsCorresponds to variant dbSNP:rs13241921Ensembl.1
Natural variantiVAR_060386171S → W3 PublicationsCorresponds to variant dbSNP:rs13232463Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF534110 mRNA Translation: AAN63884.1
AY354928 mRNA Translation: AAQ55828.1
AC093168 Genomic DNA No translation available.
BC030295 mRNA Translation: AAH30295.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5561.1

NCBI Reference Sequences

More...RefSeqi		NP_689772.2, NM_152559.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000297873; ENSP00000297873; ENSG00000165171

Database of genes from NCBI RefSeq genomes

More...GeneIDi		155368

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:155368

UCSC genome browser

More...UCSCi		uc003tzj.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF534110 mRNA Translation: AAN63884.1
AY354928 mRNA Translation: AAQ55828.1
AC093168 Genomic DNA No translation available.
BC030295 mRNA Translation: AAH30295.1
CCDSiCCDS5561.1
RefSeqiNP_689772.2, NM_152559.2

3D structure databases

SMRiQ8N6F8
ModBaseiSearch...

Protein-protein interaction databases

BioGridi127581, 4 interactors
IntActiQ8N6F8, 31 interactors
MINTiQ8N6F8
STRINGi9606.ENSP00000297873

PTM databases

iPTMnetiQ8N6F8
PhosphoSitePlusiQ8N6F8

Polymorphism and mutation databases

BioMutaiMETTL27
DMDMi296453033

Proteomic databases

PaxDbiQ8N6F8
PeptideAtlasiQ8N6F8
PRIDEiQ8N6F8
ProteomicsDBi72165

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		155368

Genome annotation databases

EnsembliENST00000297873; ENSP00000297873; ENSG00000165171
GeneIDi155368
KEGGihsa:155368
UCSCiuc003tzj.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		155368

GeneCards: human genes, protein and diseases

More...GeneCardsi		METTL27
HGNCiHGNC:19068 METTL27
HPAiHPA022420
MIMi612546 gene
neXtProtiNX_Q8N6F8
OpenTargetsiENSG00000165171
PharmGKBiPA134905115

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1541 Eukaryota
COG0500 LUCA
GeneTreeiENSGT00530000063975
HOGENOMiHOG000030902
InParanoidiQ8N6F8
OMAiFTISHAP
OrthoDBi785883at2759
PhylomeDBiQ8N6F8
TreeFamiTF329435

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		155368
PharosiQ8N6F8

Protein Ontology

More...PROi		PR:Q8N6F8

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000165171 Expressed in 94 organ(s), highest expression level in right uterine tube
ExpressionAtlasiQ8N6F8 baseline and differential
GenevisibleiQ8N6F8 HS

Family and domain databases

InterProiView protein in InterPro
IPR041698 Methyltransf_25
IPR029063 SAM-dependent_MTases
PfamiView protein in Pfam
PF13649 Methyltransf_25, 1 hit
SUPFAMiSSF53335 SSF53335, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMET27_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8N6F8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2006
Last sequence update: May 18, 2010
Last modified: November 13, 2019
This is version 124 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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