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Aliases for METTL23 Gene

Aliases for METTL23 Gene

  • Methyltransferase Like 23 2 3
  • C17orf95 3 4 6
  • Chromosome 17 Open Reading Frame 95 2
  • Methyltransferase-Like Protein 23 3
  • EC 2.1.1.- 4
  • MRT44 3

External Ids for METTL23 Gene

Previous Symbols for METTL23 Gene

  • C17orf95

Summaries for METTL23 Gene

Entrez Gene Summary for METTL23 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]

GeneCards Summary for METTL23 Gene

METTL23 (Methyltransferase Like 23) is a Protein Coding gene. Diseases associated with METTL23 include mental retardation, autosomal recessive 44 and autosomal recessive non-syndromic intellectual disability. GO annotations related to this gene include methyltransferase activity. An important paralog of this gene is ENSG00000267168.

UniProtKB/Swiss-Prot for METTL23 Gene

  • Probable methyltransferase.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for METTL23 Gene

Genomics for METTL23 Gene

Genomic Location for METTL23 Gene

Start:
76,726,056 bp from pter
End:
76,733,936 bp from pter
Size:
7,881 bases
Orientation:
Plus strand

Genomic View for METTL23 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for METTL23 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for METTL23 Gene

No data available for Regulatory Elements for METTL23 Gene

Proteins for METTL23 Gene

  • Protein details for METTL23 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86XA0-MET23_HUMAN
    Recommended name:
    Methyltransferase-like protein 23
    Protein Accession:
    Q86XA0
    Secondary Accessions:
    • H9ZYJ0
    • K7EK32

    Protein attributes for METTL23 Gene

    Size:
    190 amino acids
    Molecular mass:
    21469 Da
    Quaternary structure:
    • Interacts with HSPA5, HSP90B1, TUBULIN, UGGT1 and UGGT2.
    SequenceCaution:
    • Sequence=AAH45819.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for METTL23 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for METTL23 Gene

Proteomics data for METTL23 Gene at MOPED

Post-translational modifications for METTL23 Gene

No Post-translational modifications

No data available for DME Specific Peptides for METTL23 Gene

Domains for METTL23 Gene

Protein Domains for METTL23 Gene

UniProtKB/Swiss-Prot:

MET23_HUMAN
Family:
  • Belongs to the methyltransferase superfamily. METTL23 family.:
    • Q86XA0
genes like me logo Genes that share domains with METTL23: view

No data available for Gene Families for METTL23 Gene

Function for METTL23 Gene

Molecular function for METTL23 Gene

UniProtKB/Swiss-Prot Function: Probable methyltransferase.

Enzyme Numbers (IUBMB) for METTL23 Gene

Gene Ontology (GO) - Molecular Function for METTL23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with METTL23: view

miRNA for METTL23 Gene

miRTarBase miRNAs that target METTL23

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for METTL23 Gene

Localization for METTL23 Gene

Subcellular locations from UniProtKB/Swiss-Prot for METTL23 Gene

Cytoplasm. Membrane; Single-pass membrane protein. Note=When overexpressed, detected in cytoplasmic membrane-like structures.

Gene Ontology (GO) - Cellular Components for METTL23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with METTL23: view

Pathways for METTL23 Gene

SuperPathways for METTL23 Gene

No Data Available

Gene Ontology (GO) - Biological Process for METTL23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with METTL23: view

No data available for Pathways by source for METTL23 Gene

Transcripts for METTL23 Gene

Unigene Clusters for METTL23 Gene

Methyltransferase like 23:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for METTL23 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d · 6e ·
SP1: - - - - - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - - - - -
SP5: - - - - - - -
SP6: - - - - - -
SP7: - - - -
SP8: - - - - - - - - - -
SP9: - -
SP10: - - - - - - - - - -
SP11: - - - -
SP12: - -
SP13:

ExUns: 6f · 6g · 6h
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for METTL23 Gene

GeneLoc Exon Structure for
METTL23
ECgene alternative splicing isoforms for
METTL23

Expression for METTL23 Gene

mRNA expression in normal human tissues for METTL23 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for METTL23 Gene

SOURCE GeneReport for Unigene cluster for METTL23 Gene Hs.74655

genes like me logo Genes that share expressions with METTL23: view

Orthologs for METTL23 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for METTL23 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C17ORF95 37
  • 64 (a)
OneToOne
METTL23 36
  • 99.47 (n)
  • 98.95 (a)
cow
(Bos Taurus)
Mammalia METTL23 36
  • 89.47 (n)
  • 90 (a)
METTL23 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia METTL23 36
  • 90.18 (n)
  • 92.11 (a)
METTL23 37
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mettl23 36
  • 85.96 (n)
  • 89.47 (a)
Mettl23 16
Mettl23 37
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 61 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 57 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mettl23 36
  • 85.71 (n)
  • 87.83 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 58 (a)
OneToMany
METTL23 36
  • 71.84 (n)
  • 71.12 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 51 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mettl23 36
  • 66.84 (n)
  • 66.67 (a)
zebrafish
(Danio rerio)
Actinopterygii METTL23 37
  • 52 (a)
OneToMany
si:ch73-366l1.2 36
  • 63.64 (n)
  • 62.57 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001222 36
  • 51.28 (n)
  • 51.65 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5013 36
  • 55.37 (n)
  • 49.44 (a)
CG5013 37
  • 34 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G63855 36
  • 53.39 (n)
  • 47.66 (a)
rice
(Oryza sativa)
Liliopsida Os02g0120300 36
  • 54.03 (n)
  • 41.18 (a)
Species with no ortholog for METTL23:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for METTL23 Gene

ENSEMBL:
Gene Tree for METTL23 (if available)
TreeFam:
Gene Tree for METTL23 (if available)

Paralogs for METTL23 Gene

Paralogs for METTL23 Gene

Selected SIMAP similar genes for METTL23 Gene using alignment to 10 proteins:

genes like me logo Genes that share paralogs with METTL23: view

Variants for METTL23 Gene

Sequence variations from dbSNP and Humsavar for METTL23 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs2058215 -- 76,732,000(-) ACATG(A/G)CTTTC intron-variant
rs4788943 -- 76,729,840(+) TCAGA(C/T)GTGTT intron-variant
rs4789350 -- 76,730,429(+) gagac(C/G)ctgtc intron-variant
rs4789351 -- 76,732,856(+) ACAAA(C/T)CCAGA intron-variant
rs6501921 -- 76,729,089(+) ccacc(A/G)cgccc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for METTL23 Gene

Variant ID Type Subtype PubMed ID
nsv908833 CNV Loss 21882294
nsv833550 CNV Loss 17160897

Relevant External Links for METTL23 Gene

HapMap Linkage Disequilibrium report
METTL23
Human Gene Mutation Database (HGMD)
METTL23

Disorders for METTL23 Gene

UniProtKB/Swiss-Prot

MET23_HUMAN
  • Mental retardation, autosomal recessive 44 (MRT44) [MIM:615942]: A 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. {ECO:0000269 PubMed:24501276, ECO:0000269 PubMed:24626631}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with METTL23: view

Publications for METTL23 Gene

  1. METTL23, a transcriptional partner of GABPA, is essential for human cognition. (PMID: 24501276) Reiff R.E. … Mochida G.H. (Hum. Mol. Genet. 2014) 2 3 4
  2. Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. (PMID: 24626631) Bernkopf M. … Duba H.C. (Hum. Mol. Genet. 2014) 3 4
  3. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PMID: 23349634) Cloutier P. … Coulombe B. (PLoS Genet. 2013) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4
  5. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody M.C. … Nusbaum C. (Nature 2006) 4

Products for METTL23 Gene

Sources for METTL23 Gene

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