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    ASMTL acetylserotonin O-methyltransferase like [ Homo sapiens (human) ]

    Gene ID: 8623, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ASMTLprovided by HGNC
    Official Full Name
    acetylserotonin O-methyltransferase likeprovided by HGNC
    Primary source
    HGNC:HGNC:751
    See related
    Ensembl:ENSG00000169093 Ensembl:ENSG00000292339 MIM:300162; MIM:400011; AllianceGenome:HGNC:751
    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
    ASTML; ASMTLX; ASMTLY
    Summary
    The protein encoded by this gene has an N-terminus that is similar to the multicopy associated filamentation (maf) protein of Bacillus subtilis and to orfE of Escherichia coli, while the C-terminus is similar to N-acetylserotonin O-methyltransferase. This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
    Expression
    Ubiquitous expression in ovary (RPKM 11.8), prostate (RPKM 10.4) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ASMTL in Genome Data Viewer
    Location:
    X;Y
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (1403139..1453756, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (1403139..1453756, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (1246707..1338509, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (1266964..1401516, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (1522032..1572649, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (1472032..1522649, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:1510270-1510865 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chrX:1510866-1511460 and GRCh37_chrY:1460904-1461506 Neighboring gene serine/arginine repetitive matrix protein 1-like Neighboring gene solute carrier family 25 member 6 Neighboring gene long intergenic non-protein coding RNA 106 Neighboring gene ASMTL antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:1585389-1585889 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:1599821-1599989 Neighboring gene hESC enhancers GRCh37_chrX:1600455-1601166 and GRCh37_chrY:1550663-1551162 Neighboring gene P2Y receptor family member 8 Neighboring gene A-kinase anchoring protein 17A

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chrX:1510866-1511460 and GRCh37_chrY:1460904-1461506 Neighboring gene serine/arginine repetitive matrix protein 1-like Neighboring gene solute carrier family 25 member 6 Neighboring gene long intergenic non-protein coding RNA 106 Neighboring gene ASMTL antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:1585389-1585889 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:1599821-1599989 Neighboring gene hESC enhancers GRCh37_chrX:1600455-1601166 and GRCh37_chrY:1550663-1551162 Neighboring gene P2Y receptor family member 8 Neighboring gene A-kinase anchoring protein 17A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL. Ried K, et al. Hum Mol Genet, 1998 Oct. PMID 9736779
    2. Targeting RICTOR Sensitizes SMAD4-Negative Colon Cancer to Irinotecan. Wong CK, et al. Mol Cancer Res, 2020 Mar. PMID 31932471, Free PMC Article
    3. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Corominas R, et al. Nat Commun, 2014 Apr 11. PMID 24722188, Free PMC Article
    4. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. Li X, et al. Mol Syst Biol, 2015 Jan 21. PMID 25609649, Free PMC Article
    5. A high-throughput approach for measuring temporal changes in the interactome. Kristensen AR, et al. Nat Methods, 2012 Sep. PMID 22863883, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 8-oxo-(d)RTP hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables O-methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables UTP diphosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables dTTP diphosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleoside triphosphate diphosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nucleotide metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein
    Names
    N-acetylserotonin O-methyltransferase-like protein
    acetylserotonin N-methyltransferase-like
    NP_001166944.1
    NP_001166945.1
    NP_001411122.1
    NP_001411123.1
    NP_004183.2

    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_016772.1 RefSeqGene

      Range
      5854..55624
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001173473.2 → NP_001166944.1  probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK225770, AK301844, BM129217, BU688748, DA904467
      Consensus CDS
      CCDS55362.1
      UniProtKB/TrEMBL
      B4DRF1
      Related
      ENSP00000446410.1, ENSP00000518598.1, ENST00000534940.6, ENST00000711192.1
      Conserved Domains (3) summary
      cd00555
      Location:1 → 150
      Maf; Nucleotide binding protein Maf. Maf has been implicated in inhibition of septum formation in eukaryotes, bacteria and archaea, but homologs in B.subtilis and S.cerevisiae are nonessential for cell division. Maf has been predicted to be a nucleotide- or ...
      pfam16864
      Location:229 → 313
      Dimerisation2; Dimerization domain
      cl17173
      Location:330 → 546
      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_001173474.2 → NP_001166945.1  probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein isoform 3

      See identical proteins and their annotated locations for NP_001166945.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK090498, AK225770, AK301844, BM129217, BU688748
      Consensus CDS
      CCDS55363.1
      UniProtKB/TrEMBL
      B3KM43
      Related
      ENSP00000370734.4, ENSP00000518599.1, ENST00000381333.9, ENST00000711196.1
      Conserved Domains (3) summary
      cd00555
      Location:15 → 192
      Maf; Nucleotide binding protein Maf. Maf has been implicated in inhibition of septum formation in eukaryotes, bacteria and archaea, but homologs in B.subtilis and S.cerevisiae are nonessential for cell division. Maf has been predicted to be a nucleotide- or ...
      pfam16864
      Location:271 → 355
      Dimerisation2; Dimerization domain
      cl17173
      Location:372 → 588
      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_001424193.1 → NP_001411122.1  probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein isoform 1

      Status: REVIEWED

      Source sequence(s)
      CP068255
      UniProtKB/Swiss-Prot
      B4DX75, F5GXH4, J3JS33, O95671, Q5JQ53, Q8NBH5, Q96G02, Q9BUL6
      UniProtKB/TrEMBL
      B3KM43

    4. NM_001424194.1 → NP_001411123.1  probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      CP068255
      UniProtKB/TrEMBL
      B4DRF1

    5. NM_004192.4 → NP_004183.2  probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein isoform 1

      See identical proteins and their annotated locations for NP_004183.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1)
      Source sequence(s)
      AK001090, AK225770, AK301844, BM129217, BU688748, DA005122
      Consensus CDS
      CCDS43917.1
      UniProtKB/Swiss-Prot
      B4DX75, F5GXH4, J3JS33, O95671, Q5JQ53, Q8NBH5, Q96G02, Q9BUL6
      UniProtKB/TrEMBL
      B3KM43
      Related
      ENSP00000370718.3, ENSP00000518600.1, ENST00000381317.9, ENST00000711197.1
      Conserved Domains (3) summary
      cd00555
      Location:15 → 208
      Maf; Nucleotide binding protein Maf. Maf has been implicated in inhibition of septum formation in eukaryotes, bacteria and archaea, but homologs in B.subtilis and S.cerevisiae are nonessential for cell division. Maf has been predicted to be a nucleotide- or ...
      pfam16864
      Location:287 → 371
      dimerization2; dimerization domain
      cl17173
      Location:388 → 599
      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). ...

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      1403139..1453756 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

      Range
      1403139..1453756 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      1246707..1338509 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060948.1 Alternate T2T-CHM13v2.0

      Range
      1266964..1401516 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95671.3 GenPept UniProtKB/Swiss-Prot:O95671

    Gene LinkOut

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