METTL23

Protein identityUniProt · HPA

UniProt accession

Q86XA0

Gene

METTL23

Ensembl

ENSG00000181038

Chromosome

17

Canonical length

190 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Vesicles

OverviewNCBI Gene

The protein encoded by this gene functions as a transcription factor regulator in the transcriptional pathway for human cognition. It is a partner of the alpha subunit of the GA-binding protein transcription factor. Mutations in this gene cause mild autosomal recessive intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Canonical amino-acid sequenceUniProt

190 residues, UniProt reviewed canonical sequence.

>Q86XA0|METTL23
     1  MYVWPCAVVL AQYLWFHRRS LPGKAILEIG AGVSLPGILA AKCGAEVILS DSSELPHCLE
    61  VCRQSCQMNN LPHLQVVGLT WGHISWDLLA LPPQDIILAS DVFFEPEDFE DILATIYFLM
   121  HKNPKVQLWS TYQVRSADWS LEALLYKWDM KCVHIPLESF DADKEDIAES TLPGRHTVEM
   181  LVISFAKDSL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against METTL23 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

49 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about METTL23.

Disease | AllUniProt

Conditions METTL23 is implicated in, by any mechanism.

• Intellectual developmental disorder, autosomal recessive 44 (MRT44) MIM:615942

Disease | GeneticClinVar

20 pathogenic / likely-pathogenic of 82 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual disability, autosomal recessive 44
• Inborn genetic diseases
• Intellectual disability

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.77

gnomAD pLI

0

gnomAD missense Z

-0.97

DepMap mean gene effect

-0.22

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cognition
• epigenetic programing of male pronucleus
• epigenetic programming in the zygotic pronuclei
• epigenetic regulation of gene expression
• methylation
• positive regulation of transcription by RNA polymerase II

Molecular functions

• DNA-binding transcription factor binding
• heat shock protein binding
• histone H3R17 methyltransferase activity
• protein-arginine omega-N asymmetric methyltransferase activity

Cellular components

• cytoplasm
• female pronucleus
• male pronucleus
• nucleus
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Lysine methyltransferase
• S-adenosyl-L-methionine-dependent methyltransferase superfamily
• Lysine methyltransferase

KeywordsUniProt

• Chromatin regulator
• Cytoplasm
• Developmental protein
• Intellectual disability
• Methyltransferase
• Nucleus
• S-adenosyl-L-methionine
• Transferase

InteractionsUniProt · HPA

Protein binding partners of METTL23 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HSP90B1
• HSPA5
• STPG4
• TET3
• TUBULIN
• UGGT1
• UGGT2