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    METTL23 methyltransferase 23, arginine [ Homo sapiens (human) ]

    Gene ID: 124512, updated on 2-Nov-2024

    Summary

    Official Symbol
    METTL23provided by HGNC
    Official Full Name
    methyltransferase 23, arginineprovided by HGNC
    Primary source
    HGNC:HGNC:26988
    See related
    Ensembl:ENSG00000181038 MIM:615262; AllianceGenome:HGNC:26988
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRT44; C17orf95
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 11.1), thyroid (RPKM 8.5) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See METTL23 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (76726041..76733881)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (77623024..77630868)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74722123..74729963)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105274304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74678511-74679057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74680151-74680695 Neighboring gene matrix remodeling associated 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74682678-74683473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74693235-74693788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74693789-74694342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74694343-74694895 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74696218-74696722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74696723-74697227 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74697733-74698236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9024 Neighboring gene RNY4 pseudogene 36 Neighboring gene jumonji domain containing 6, arginine demethylase and lysine hydroxylase Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74722561-74723190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74723821-74724449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74725107-74725737 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74732487-74733112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12814 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:74736456-74736653 Neighboring gene serine and arginine rich splicing factor 2 Neighboring gene microRNA 636 Neighboring gene major facilitator superfamily domain containing 11 Neighboring gene RNA, U6 small nuclear 97, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables heat shock protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables histone H3R17 methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone H3R17 methyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-arginine omega-N asymmetric methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cognition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_positive_effect epigenetic programing of male pronucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epigenetic programming in the zygotic pronuclei ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epigenetic regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in female pronucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in male pronucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    histone-arginine methyltransferase METTL23
    Names
    methyltransferase like 23
    methyltransferase-like protein 23
    probable methyltransferase-like protein 23
    spike binding protein 1
    NP_001073979.3
    NP_001193912.1
    NP_001193913.1
    NP_001193914.1
    NP_001193915.1
    NP_001193916.1
    NP_001289632.1
    NP_001289633.1
    NP_001289634.1
    NP_001365277.1
    NP_001365278.1
    NP_001365279.1
    NP_001365280.1
    NP_001365281.1
    NP_001365282.1
    NP_001365283.1
    XP_047291263.1
    XP_047291264.1
    XP_047291265.1
    XP_047291266.1
    XP_054170951.1
    XP_054170952.1
    XP_054170953.1
    XP_054170954.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_041790.1 RefSeqGene

      Range
      5010..12051
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080510.5NP_001073979.3  histone-arginine methyltransferase METTL23 isoform 1

      See identical proteins and their annotated locations for NP_001073979.3

      Status: REVIEWED

      Source sequence(s)
      AL522160, BC045819, BC106939, HY093122, HY285382
      Consensus CDS
      CCDS45787.1
      UniProtKB/Swiss-Prot
      H9ZYJ0, K7EK32, Q86XA0
      UniProtKB/TrEMBL
      K7EPR8
      Related
      ENSP00000341543.5, ENST00000341249.11
      Conserved Domains (1) summary
      cl17173
      Location:3126
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    2. NM_001206983.3NP_001193912.1  histone-arginine methyltransferase METTL23 isoform 1

      See identical proteins and their annotated locations for NP_001193912.1

      Status: REVIEWED

      Source sequence(s)
      BC106939, BI819093, HY093122, HY285382
      Consensus CDS
      CCDS45787.1
      UniProtKB/Swiss-Prot
      H9ZYJ0, K7EK32, Q86XA0
      UniProtKB/TrEMBL
      K7EPR8
      Related
      ENSP00000482599.1, ENST00000615984.4
      Conserved Domains (1) summary
      cl17173
      Location:3126
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    3. NM_001206984.3NP_001193913.1  histone-arginine methyltransferase METTL23 isoform 1

      See identical proteins and their annotated locations for NP_001193913.1

      Status: REVIEWED

      Source sequence(s)
      BU176249, HY093122, HY285382
      Consensus CDS
      CCDS45787.1
      UniProtKB/Swiss-Prot
      H9ZYJ0, K7EK32, Q86XA0
      UniProtKB/TrEMBL
      K7EPR8
      Related
      ENSP00000467503.1, ENST00000588563.5
      Conserved Domains (1) summary
      cl17173
      Location:3126
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    4. NM_001206985.3NP_001193914.1  histone-arginine methyltransferase METTL23 isoform 2

      See identical proteins and their annotated locations for NP_001193914.1

      Status: REVIEWED

      Source sequence(s)
      BC033998, HY093122, HY285382
      Consensus CDS
      CCDS59298.1
      UniProtKB/Swiss-Prot
      Q86XA0
      UniProtKB/TrEMBL
      Q8N712
      Related
      ENSP00000465890.1, ENST00000590964.5
      Conserved Domains (1) summary
      cl17173
      Location:159
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    5. NM_001206986.3NP_001193915.1  histone-arginine methyltransferase METTL23 isoform 2

      See identical proteins and their annotated locations for NP_001193915.1

      Status: REVIEWED

      Source sequence(s)
      BC106939, BI225157, HY093122, HY285382
      Consensus CDS
      CCDS59298.1
      UniProtKB/Swiss-Prot
      Q86XA0
      Related
      ENSP00000466203.1, ENST00000586752.5
      Conserved Domains (1) summary
      cl17173
      Location:159
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    6. NM_001206987.3NP_001193916.1  histone-arginine methyltransferase METTL23 isoform 2

      See identical proteins and their annotated locations for NP_001193916.1

      Status: REVIEWED

      Source sequence(s)
      BC106939, BI829268, BP873025, HY285382
      Consensus CDS
      CCDS59298.1
      UniProtKB/Swiss-Prot
      Q86XA0
      Related
      ENSP00000465430.1, ENST00000588822.1
      Conserved Domains (1) summary
      cl17173
      Location:159
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    7. NM_001302703.2NP_001289632.1  histone-arginine methyltransferase METTL23 isoform 1

      See identical proteins and their annotated locations for NP_001289632.1

      Status: REVIEWED

      Source sequence(s)
      BF575183, BX396749, HY285382, JQ313903
      Consensus CDS
      CCDS45787.1
      UniProtKB/Swiss-Prot
      H9ZYJ0, K7EK32, Q86XA0
      UniProtKB/TrEMBL
      K7EPR8
      Conserved Domains (1) summary
      cl17173
      Location:3126
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    8. NM_001302704.2NP_001289633.1  histone-arginine methyltransferase METTL23 isoform 2

      See identical proteins and their annotated locations for NP_001289633.1

      Status: REVIEWED

      Source sequence(s)
      BF575183, BX356072
      Consensus CDS
      CCDS59298.1
      UniProtKB/Swiss-Prot
      Q86XA0
      Conserved Domains (1) summary
      cl17173
      Location:159
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    9. NM_001302705.2NP_001289634.1  histone-arginine methyltransferase METTL23 isoform 3

      See identical proteins and their annotated locations for NP_001289634.1

      Status: REVIEWED

      Source sequence(s)
      BE567652, BF575183, HY285382, JQ313903
      UniProtKB/TrEMBL
      K7EPR8
      Conserved Domains (1) summary
      cl17173
      Location:24122
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    10. NM_001378348.1NP_001365277.1  histone-arginine methyltransferase METTL23 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC005837
      Consensus CDS
      CCDS45787.1
      UniProtKB/Swiss-Prot
      H9ZYJ0, K7EK32, Q86XA0
      UniProtKB/TrEMBL
      K7EPR8
      Conserved Domains (1) summary
      cl17173
      Location:3126
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    11. NM_001378349.1NP_001365278.1  histone-arginine methyltransferase METTL23 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC005837
      Consensus CDS
      CCDS45787.1
      UniProtKB/Swiss-Prot
      H9ZYJ0, K7EK32, Q86XA0
      UniProtKB/TrEMBL
      K7EPR8
      Conserved Domains (1) summary
      cl17173
      Location:3126
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    12. NM_001378350.1NP_001365279.1  histone-arginine methyltransferase METTL23 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC005837
      UniProtKB/TrEMBL
      K7EPR8
      Conserved Domains (1) summary
      cl17173
      Location:24122
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    13. NM_001378351.1NP_001365280.1  histone-arginine methyltransferase METTL23 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC005837
      UniProtKB/TrEMBL
      K7EPR8
      Conserved Domains (1) summary
      cl17173
      Location:24122
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    14. NM_001378352.1NP_001365281.1  histone-arginine methyltransferase METTL23 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC005837
      UniProtKB/TrEMBL
      K7EPR8
      Conserved Domains (1) summary
      cl17173
      Location:24122
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    15. NM_001378353.1NP_001365282.1  histone-arginine methyltransferase METTL23 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC005837
      UniProtKB/TrEMBL
      K7EPR8
      Conserved Domains (1) summary
      cl17173
      Location:24122
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    16. NM_001378354.1NP_001365283.1  histone-arginine methyltransferase METTL23 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC005837
      Consensus CDS
      CCDS59298.1
      Conserved Domains (1) summary
      cl17173
      Location:159
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    RNA

    1. NR_038193.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      BC106939, HY093122, HY285382

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      76726041..76733881
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435310.1XP_047291266.1  histone-arginine methyltransferase METTL23 isoform X3

    2. XM_047435308.1XP_047291264.1  histone-arginine methyltransferase METTL23 isoform X2

    3. XM_047435309.1XP_047291265.1  histone-arginine methyltransferase METTL23 isoform X3

    4. XM_047435307.1XP_047291263.1  histone-arginine methyltransferase METTL23 isoform X1

      UniProtKB/Swiss-Prot
      H9ZYJ0, K7EK32, Q86XA0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      77623024..77630868
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314979.1XP_054170954.1  histone-arginine methyltransferase METTL23 isoform X3

    2. XM_054314977.1XP_054170952.1  histone-arginine methyltransferase METTL23 isoform X2

    3. XM_054314978.1XP_054170953.1  histone-arginine methyltransferase METTL23 isoform X3

    4. XM_054314976.1XP_054170951.1  histone-arginine methyltransferase METTL23 isoform X1

      UniProtKB/Swiss-Prot
      H9ZYJ0, K7EK32, Q86XA0