UniProtKB - Q8N6F8 (MET27_HUMAN)
Protein
Methyltransferase-like protein 27
Gene
METTL27
Organism
Homo sapiens (Human)
Status
Names & Taxonomyi
Protein namesi | Recommended name: Methyltransferase-like protein 27ImportedAlternative name(s): Williams-Beuren syndrome chromosomal region 27 proteinImported |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:19068 METTL27 |
MIMi | 612546 gene |
neXtProti | NX_Q8N6F8 |
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 syndromeOrganism-specific databases
OpenTargetsi | ENSG00000165171 |
PharmGKBi | PA134905115 |
Miscellaneous databases
Pharosi | Q8N6F8 |
Polymorphism and mutation databases
BioMutai | METTL27 |
DMDMi | 296453033 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000223961 | 1 – 245 | Methyltransferase-like protein 27Add BLAST | 245 |
Proteomic databases
PaxDbi | Q8N6F8 |
PeptideAtlasi | Q8N6F8 |
PRIDEi | Q8N6F8 |
ProteomicsDBi | 72165 |
PTM databases
iPTMneti | Q8N6F8 |
PhosphoSitePlusi | Q8N6F8 |
Expressioni
Gene expression databases
Bgeei | ENSG00000165171 Expressed in 94 organ(s), highest expression level in right uterine tube |
ExpressionAtlasi | Q8N6F8 baseline and differential |
Genevisiblei | Q8N6F8 HS |
Organism-specific databases
HPAi | HPA022420 |
Interactioni
Binary interactionsi
With | Entry | #Exp. | IntAct | Notes |
---|---|---|---|---|
Q92569 | 3 | EBI-8487781,EBI-79893 |
Protein-protein interaction databases
BioGridi | 127581, 4 interactors |
IntActi | Q8N6F8, 31 interactors |
MINTi | Q8N6F8 |
STRINGi | 9606.ENSP00000297873 |
Family & Domainsi
Phylogenomic databases
eggNOGi | KOG1541 Eukaryota COG0500 LUCA |
GeneTreei | ENSGT00530000063975 |
HOGENOMi | HOG000030902 |
InParanoidi | Q8N6F8 |
OMAi | FTISHAP |
OrthoDBi | 785883at2759 |
PhylomeDBi | Q8N6F8 |
TreeFami | TF329435 |
Family and domain databases
InterProi | View protein in InterPro IPR041698 Methyltransf_25 IPR029063 SAM-dependent_MTases |
Pfami | View protein in Pfam PF13649 Methyltransf_25, 1 hit |
SUPFAMi | SSF53335 SSF53335, 1 hit |
(1+)i Sequence
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
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketB4DWM3 | B4DWM3_HUMAN | Methyltransferase-like protein 27 | METTL27 | 90 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 216 | R → W in AAN63884 (Ref. 1) Curated | 1 | |
Sequence conflicti | 216 | R → W in AAQ55828 (PubMed:18398435).Curated | 1 | |
Sequence conflicti | 216 | R → W in AAH30295 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_060385 | 107 | Q → R3 PublicationsCorresponds to variant dbSNP:rs13241921Ensembl. | 1 | |
Natural variantiVAR_060386 | 171 | S → 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 |
CCDSi | CCDS5561.1 |
RefSeqi | NP_689772.2, NM_152559.2 |
Genome annotation databases
Ensembli | ENST00000297873; ENSP00000297873; ENSG00000165171 |
GeneIDi | 155368 |
KEGGi | hsa:155368 |
UCSCi | uc003tzj.3 human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS5561.1 |
RefSeqi | NP_689772.2, NM_152559.2 |
3D structure databases
SMRi | Q8N6F8 |
ModBasei | Search... |
Protein-protein interaction databases
BioGridi | 127581, 4 interactors |
IntActi | Q8N6F8, 31 interactors |
MINTi | Q8N6F8 |
STRINGi | 9606.ENSP00000297873 |
PTM databases
iPTMneti | Q8N6F8 |
PhosphoSitePlusi | Q8N6F8 |
Polymorphism and mutation databases
BioMutai | METTL27 |
DMDMi | 296453033 |
Proteomic databases
PaxDbi | Q8N6F8 |
PeptideAtlasi | Q8N6F8 |
PRIDEi | Q8N6F8 |
ProteomicsDBi | 72165 |
Protocols and materials databases
DNASUi | 155368 |
Genome annotation databases
Ensembli | ENST00000297873; ENSP00000297873; ENSG00000165171 |
GeneIDi | 155368 |
KEGGi | hsa:155368 |
UCSCi | uc003tzj.3 human |
Organism-specific databases
CTDi | 155368 |
GeneCardsi | METTL27 |
HGNCi | HGNC:19068 METTL27 |
HPAi | HPA022420 |
MIMi | 612546 gene |
neXtProti | NX_Q8N6F8 |
OpenTargetsi | ENSG00000165171 |
PharmGKBi | PA134905115 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1541 Eukaryota COG0500 LUCA |
GeneTreei | ENSGT00530000063975 |
HOGENOMi | HOG000030902 |
InParanoidi | Q8N6F8 |
OMAi | FTISHAP |
OrthoDBi | 785883at2759 |
PhylomeDBi | Q8N6F8 |
TreeFami | TF329435 |
Miscellaneous databases
GenomeRNAii | 155368 |
Pharosi | Q8N6F8 |
PROi | PR:Q8N6F8 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000165171 Expressed in 94 organ(s), highest expression level in right uterine tube |
ExpressionAtlasi | Q8N6F8 baseline and differential |
Genevisiblei | Q8N6F8 HS |
Family and domain databases
InterProi | View protein in InterPro IPR041698 Methyltransf_25 IPR029063 SAM-dependent_MTases |
Pfami | View protein in Pfam PF13649 Methyltransf_25, 1 hit |
SUPFAMi | SSF53335 SSF53335, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MET27_HUMAN | |
Accessioni | Q8N6F8Primary (citable) accession number: Q8N6F8 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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 proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot