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

Gene ID: 8623, updated on 3-Apr-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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Location:
X;Y
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (1403139..1453756, complement)
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (1403139..1453756, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (1246707..1338509, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (1266964..1401516, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (1522032..1572649, complement)
105.20220307 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

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. 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)

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 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 molecular_function ND
No biological Data available
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 biological_process ND
No biological Data available
more info
  
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_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

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

    Status: REVIEWED

    Source sequence(s)
    CP068255

  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_2023_10

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

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