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METTL23 methyltransferase like 23 [ Homo sapiens (human) ]

Gene ID: 124512, updated on 1-Aug-2020

Summary

Official Symbol
METTL23provided by HGNC
Official Full Name
methyltransferase like 23provided by HGNC
Primary source
HGNC:HGNC:26988
See related
Ensembl:ENSG00000181038 MIM:615262
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

Genomic context

See METTL23 in Genome Data Viewer
Location:
17q25.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (76726041..76733881)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74722912..74729962)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105274304 Neighboring gene matrix remodeling associated 7 Neighboring gene RNY4 pseudogene 36 Neighboring gene jumonji domain containing 6, arginine demethylase and lysine hydroxylase 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
  • 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heat shock protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
methylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
methyltransferase-like protein 23
Names
spike binding protein 1

NCBI Reference Sequences (RefSeq)

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
    5001..12052
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080510.5NP_001073979.3  methyltransferase-like protein 23 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
    Q86XA0
    UniProtKB/TrEMBL
    A0A024R8M5
    Related
    ENSP00000341543.5, ENST00000341249.10
    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_001206983.2NP_001193912.1  methyltransferase-like protein 23 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
    Q86XA0
    UniProtKB/TrEMBL
    A0A024R8M5
    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_001206984.2NP_001193913.1  methyltransferase-like protein 23 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
    Q86XA0
    UniProtKB/TrEMBL
    A0A024R8M5
    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_001206985.2NP_001193914.1  methyltransferase-like protein 23 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_001206986.2NP_001193915.1  methyltransferase-like protein 23 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_001206987.2NP_001193916.1  methyltransferase-like protein 23 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_001302703.1NP_001289632.1  methyltransferase-like protein 23 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
    Q86XA0
    UniProtKB/TrEMBL
    A0A024R8M5
    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_001302704.1NP_001289633.1  methyltransferase-like protein 23 isoform 2

    See identical proteins and their annotated locations for NP_001289633.1

    Status: REVIEWED

    Source sequence(s)
    BF575183, BX356072, HY285382
    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_001302705.1NP_001289634.1  methyltransferase-like protein 23 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
    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  methyltransferase-like protein 23 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC005837
  11. NM_001378349.1NP_001365278.1  methyltransferase-like protein 23 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC005837
  12. NM_001378350.1NP_001365279.1  methyltransferase-like protein 23 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC005837
  13. NM_001378351.1NP_001365280.1  methyltransferase-like protein 23 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC005837
  14. NM_001378352.1NP_001365281.1  methyltransferase-like protein 23 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC005837
  15. NM_001378353.1NP_001365282.1  methyltransferase-like protein 23 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC005837
  16. NM_001378354.1NP_001365283.1  methyltransferase-like protein 23 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC005837

RNA

  1. NR_038193.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    BC106939, HY093122, HY285382

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024450563.1XP_024306331.1  methyltransferase-like protein 23 isoform X2

    Conserved Domains (1) summary
    cl17173
    Location:3106
    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. XM_017024145.2XP_016879634.1  methyltransferase-like protein 23 isoform X1

    Related
    ENSP00000464965.1, ENST00000589977.5
  3. XM_006721679.3XP_006721742.1  methyltransferase-like protein 23 isoform X6

    Conserved Domains (1) summary
    cl17173
    Location:9115
    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). ...
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