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Protein

Methyltransferase-like protein 27

Gene

METTL27

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Methyltransferase-like protein 27Imported
Alternative name(s):
Williams-Beuren syndrome chromosomal region 27 proteinImported
Gene namesi
Name:METTL27Imported
Synonyms:WBSCR27Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000165171.10.
HGNCiHGNC:19068. METTL27.

Pathology & Biotechi

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

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

OpenTargetsiENSG00000165171.
PharmGKBiPA134905115.

Polymorphism and mutation databases

BioMutaiWBSCR27.
DMDMi296453033.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002239611 – 245Methyltransferase-like protein 27Add BLAST245

Proteomic databases

PaxDbiQ8N6F8.
PeptideAtlasiQ8N6F8.
PRIDEiQ8N6F8.

PTM databases

iPTMnetiQ8N6F8.
PhosphoSitePlusiQ8N6F8.

Expressioni

Gene expression databases

BgeeiENSG00000165171.
CleanExiHS_WBSCR27.
ExpressionAtlasiQ8N6F8. baseline and differential.
GenevisibleiQ8N6F8. HS.

Organism-specific databases

HPAiHPA022420.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi127581. 4 interactors.
IntActiQ8N6F8. 28 interactors.
MINTiMINT-8417729.
STRINGi9606.ENSP00000297873.

Structurei

3D structure databases

ProteinModelPortaliQ8N6F8.
SMRiQ8N6F8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG1541. Eukaryota.
COG0500. LUCA.
GeneTreeiENSGT00530000063975.
HOGENOMiHOG000030902.
HOVERGENiHBG062105.
InParanoidiQ8N6F8.
OMAiVAWPVDR.
OrthoDBiEOG091G0O7S.
PhylomeDBiQ8N6F8.
TreeFamiTF329435.

Family and domain databases

InterProiView protein in InterPro
IPR029063. SAM-dependent_MTases.
SUPFAMiSSF53335. SSF53335. 1 hit.

Sequencei

Sequence statusi: Complete.

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
Checksum:iB63EAA80942533F7
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
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.
UniGeneiHs.647042.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMET27_HUMAN
AccessioniPrimary (citable) accession number: Q8N6F8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2006
Last sequence update: May 18, 2010
Last modified: October 25, 2017
This is version 112 of the entry and version 2 of the sequence. See complete history.
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.

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