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

Gene ID: 124512, updated on 7-Sep-2023

Summary

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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
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Genomic context

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See METTL23 in Genome Data Viewer
Location:
17q25.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (76726041..76733881)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (77623024..77630868)
105.20220307 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 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 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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

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Related articles in PubMed

  1. Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features. Smaili W, et al. Eur J Med Genet, 2020 Jul. PMID 32439618
  2. Further delineation of METTL23-associated intellectual disability. Almannai M, et al. Am J Med Genet A, 2020 Apr. PMID 32067349
  3. Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. Bernkopf M, et al. Hum Mol Genet, 2014 Aug 1. PMID 24626631, Free PMC Article
  4. Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants. Khan A, et al. Genes (Basel), 2020 Aug 31. PMID 32878022, Free PMC Article
  5. METTL23, a transcriptional partner of GABPA, is essential for human cognition. Reiff RE, et al. Hum Mol Genet, 2014 Jul 1. PMID 24501276, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants.
    Title: Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants.
  2. Further delineation of METTL23-associated intellectual disability.
    Title: Further delineation of METTL23-associated intellectual disability.
  3. Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features.
    Title: Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features.
  4. METTL23 mutations cause mild nonsyndromic autosomal recessive intellectual disability in two unrelated families, one from Austria, the other from Pakistan.
    Title: Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
  5. METTL23, a transcriptional partner of GABPA, is essential for human cognition
    Title: METTL23, a transcriptional partner of GABPA, is essential for human cognition.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Intellectual disability, autosomal recessive 44
MedGen: C4014745 OMIM: 615942 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 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 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
 PubMed 
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
 PubMed 
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

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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)

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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_001080510.5 → NP_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
    A0A024R8M5, K7EPR8
    Related
    ENSP00000341543.5, ENST00000341249.11
    Conserved Domains (1) summary
    cl17173
    Location:3 → 126
    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_001206983.3 → NP_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
    A0A024R8M5, K7EPR8
    Related
    ENSP00000482599.1, ENST00000615984.4
    Conserved Domains (1) summary
    cl17173
    Location:3 → 126
    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_001206984.3 → NP_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
    A0A024R8M5, K7EPR8
    Related
    ENSP00000467503.1, ENST00000588563.5
    Conserved Domains (1) summary
    cl17173
    Location:3 → 126
    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_001206985.3 → NP_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:1 → 59
    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_001206986.3 → NP_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:1 → 59
    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_001206987.3 → NP_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:1 → 59
    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_001302703.2 → NP_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
    A0A024R8M5, K7EPR8
    Conserved Domains (1) summary
    cl17173
    Location:3 → 126
    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_001302704.2 → NP_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:1 → 59
    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_001302705.2 → NP_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/Swiss-Prot
    Q86XA0
    UniProtKB/TrEMBL
    K7EPR8
    Conserved Domains (1) summary
    cl17173
    Location:24 → 122
    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_001378348.1 → NP_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
    A0A024R8M5, K7EPR8
    Conserved Domains (1) summary
    cl17173
    Location:3 → 126
    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_001378349.1 → NP_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
    A0A024R8M5, K7EPR8
    Conserved Domains (1) summary
    cl17173
    Location:3 → 126
    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_001378350.1 → NP_001365279.1  histone-arginine methyltransferase METTL23 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC005837
    UniProtKB/TrEMBL
    K7EPR8
    Conserved Domains (1) summary
    cl17173
    Location:24 → 122
    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_001378351.1 → NP_001365280.1  histone-arginine methyltransferase METTL23 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC005837
    UniProtKB/TrEMBL
    K7EPR8
    Conserved Domains (1) summary
    cl17173
    Location:24 → 122
    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_001378352.1 → NP_001365281.1  histone-arginine methyltransferase METTL23 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC005837
    UniProtKB/TrEMBL
    K7EPR8
    Conserved Domains (1) summary
    cl17173
    Location:24 → 122
    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_001378353.1 → NP_001365282.1  histone-arginine methyltransferase METTL23 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC005837
    UniProtKB/TrEMBL
    K7EPR8
    Conserved Domains (1) summary
    cl17173
    Location:24 → 122
    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_001378354.1 → NP_001365283.1  histone-arginine methyltransferase METTL23 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC005837
    Consensus CDS
    CCDS59298.1
    Conserved Domains (1) summary
    cl17173
    Location:1 → 59
    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_2023_03

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_047435310.1 → XP_047291266.1  histone-arginine methyltransferase METTL23 isoform X3

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

    UniProtKB/TrEMBL
    K7EPR8

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

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

    UniProtKB/Swiss-Prot
    H9ZYJ0, K7EK32, Q86XA0
    UniProtKB/TrEMBL
    A0A024R8M5, K7EPR8

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_054314979.1 → XP_054170954.1  histone-arginine methyltransferase METTL23 isoform X3

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

    UniProtKB/TrEMBL
    K7EPR8

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

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

    UniProtKB/Swiss-Prot
    H9ZYJ0, K7EK32, Q86XA0
    UniProtKB/TrEMBL
    A0A024R8M5, K7EPR8
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86XA0.3 GenPept UniProtKB/Swiss-Prot:Q86XA0

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