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Protein

Methyltransferase-like protein 23

Gene

METTL23

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

Functioni

Probable methyltransferase.By similarity

GO - Molecular functioni

  • heat shock protein binding Source: UniProtKB
  • methyltransferase activity Source: UniProtKB-KW
  • transcription factor binding Source: UniProtKB

GO - Biological processi

  • cognition Source: UniProtKB
  • positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB

Keywordsi

Molecular functionMethyltransferase, Transferase
LigandS-adenosyl-L-methionine

Names & Taxonomyi

Protein namesi
Recommended name:
Methyltransferase-like protein 23 (EC:2.1.1.-)
Gene namesi
Name:METTL23
Synonyms:C17orf95
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:26988. METTL23.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei29 – 45HelicalSequence analysisAdd BLAST17

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • nucleus Source: UniProtKB
  • protein complex Source: UniProtKB

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 44 (MRT44)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT44 manifestations include mild to severe cognitive impairment, delayed psychomotor development, seizures in some patients, and dysmorphic features.
See also OMIM:615942

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi124512.
MalaCardsiMETTL23.
MIMi615942. phenotype.
OpenTargetsiENSG00000181038.
Orphaneti88616. Autosomal recessive non-syndromic intellectual disability.
PharmGKBiPA162378566.

Polymorphism and mutation databases

BioMutaiMETTL23.
DMDMi269849695.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003215201 – 190Methyltransferase-like protein 23Add BLAST190

Proteomic databases

PaxDbiQ86XA0.
PeptideAtlasiQ86XA0.
PRIDEiQ86XA0.

PTM databases

iPTMnetiQ86XA0.
PhosphoSitePlusiQ86XA0.

Expressioni

Gene expression databases

BgeeiENSG00000181038.
CleanExiHS_C17orf95.
ExpressionAtlasiQ86XA0. baseline and differential.
GenevisibleiQ86XA0. HS.

Interactioni

Subunit structurei

Interacts with HSPA5, HSP90B1, TUBULIN, UGGT1 and UGGT2.1 Publication

GO - Molecular functioni

  • heat shock protein binding Source: UniProtKB
  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi125870. 28 interactors.
IntActiQ86XA0. 2 interactors.
MINTiMINT-8247367.
STRINGi9606.ENSP00000341543.

Structurei

3D structure databases

ProteinModelPortaliQ86XA0.
SMRiQ86XA0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410ISZF. Eukaryota.
ENOG4111GNX. LUCA.
GeneTreeiENSGT00510000048008.
HOVERGENiHBG107758.
InParanoidiQ86XA0.
OMAiTWPCAPV.
OrthoDBiEOG091G0NXJ.
PhylomeDBiQ86XA0.
TreeFamiTF352729.

Family and domain databases

InterProiView protein in InterPro
IPR019410. Methyltransf_16.
IPR029063. SAM-dependent_MTases.
PfamiView protein in Pfam
PF10294. Methyltransf_16. 1 hit.
SUPFAMiSSF53335. SSF53335. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86XA0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MYVWPCAVVL AQYLWFHRRS LPGKAILEIG AGVSLPGILA AKCGAEVILS
60 70 80 90 100
DSSELPHCLE VCRQSCQMNN LPHLQVVGLT WGHISWDLLA LPPQDIILAS
110 120 130 140 150
DVFFEPEDFE DILATIYFLM HKNPKVQLWS TYQVRSADWS LEALLYKWDM
160 170 180 190
KCVHIPLESF DADKEDIAES TLPGRHTVEM LVISFAKDSL
Length:190
Mass (Da):21,469
Last modified:November 24, 2009 - v3
Checksum:i7820BDC5E7631700
GO
Isoform 2 (identifier: Q86XA0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-67: Missing.

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:123
Mass (Da):14,201
Checksum:i1BFF65D76BA10CED
GO

Sequence cautioni

The sequence AAH45819 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti138D → G in AAH45819 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_039343141L → V. Corresponds to variant dbSNP:rs12602772Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0556371 – 67Missing in isoform 2. CuratedAdd BLAST67

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
JQ313903 mRNA. Translation: AFH41797.1.
AC005837 Genomic DNA. No translation available.
CH471099 Genomic DNA. Translation: EAW89435.1.
CH471099 Genomic DNA. Translation: EAW89437.1.
BC045819 mRNA. Translation: AAH45819.1. Different initiation.
CCDSiCCDS45787.1. [Q86XA0-1]
CCDS59298.1. [Q86XA0-2]
RefSeqiNP_001073979.3. NM_001080510.4. [Q86XA0-1]
NP_001193912.1. NM_001206983.2. [Q86XA0-1]
NP_001193913.1. NM_001206984.2. [Q86XA0-1]
NP_001193914.1. NM_001206985.2. [Q86XA0-2]
NP_001193915.1. NM_001206986.2. [Q86XA0-2]
NP_001193916.1. NM_001206987.2. [Q86XA0-2]
NP_001289632.1. NM_001302703.1. [Q86XA0-1]
NP_001289633.1. NM_001302704.1. [Q86XA0-2]
NP_001289634.1. NM_001302705.1.
XP_006721737.1. XM_006721674.3. [Q86XA0-1]
XP_006721743.1. XM_006721680.2. [Q86XA0-2]
UniGeneiHs.74655.

Genome annotation databases

EnsembliENST00000341249; ENSP00000341543; ENSG00000181038. [Q86XA0-1]
ENST00000586752; ENSP00000466203; ENSG00000181038. [Q86XA0-2]
ENST00000588822; ENSP00000465430; ENSG00000181038. [Q86XA0-2]
ENST00000590964; ENSP00000465890; ENSG00000181038. [Q86XA0-2]
ENST00000615984; ENSP00000482599; ENSG00000181038. [Q86XA0-1]
GeneIDi124512.
KEGGihsa:124512.
UCSCiuc002jsr.4. human. [Q86XA0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMET23_HUMAN
AccessioniPrimary (citable) accession number: Q86XA0
Secondary accession number(s): H9ZYJ0, K7EK32
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: November 24, 2009
Last modified: August 30, 2017
This is version 99 of the entry and version 3 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 17
    Human chromosome 17: 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
  5. SIMILARITY comments
    Index of protein domains and families
  6. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries