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Aliases for ASMTL Gene

Aliases for ASMTL Gene

  • Acetylserotonin O-Methyltransferase Like 2 3 5
  • N-Acetylserotonin O-Methyltransferase-Like Protein 3
  • Acetylserotonin N-Methyltransferase-Like 3
  • EC 2.1.1.- 4
  • ASMTLX 3
  • ASMTLY 3
  • ASTML 3

External Ids for ASMTL Gene

Previous GeneCards Identifiers for ASMTL Gene

  • GC0XM000997
  • GC0XM000838
  • GC0XM001102
  • GC0XM001167
  • GC0YM001565
  • GC0XM001565
  • GC0XM001482
  • GC0XM001522

Summaries for ASMTL Gene

Entrez Gene Summary for ASMTL Gene

  • 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]

GeneCards Summary for ASMTL Gene

ASMTL (Acetylserotonin O-Methyltransferase Like) is a Protein Coding gene. Diseases associated with ASMTL include Patau Syndrome and Carney Complex Variant. Gene Ontology (GO) annotations related to this gene include O-methyltransferase activity. An important paralog of this gene is ASMT.

UniProtKB/Swiss-Prot for ASMTL Gene

  • Unknown. The presence of the putative catalytic domain of S-adenosyl-L-methionine binding argues for a methyltransferase activity.

Gene Wiki entry for ASMTL Gene

Additional gene information for ASMTL Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASMTL Gene

Genomics for ASMTL Gene

GeneHancer (GH) Regulatory Elements for ASMTL Gene

Promoters and enhancers for ASMTL Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ001452 Promoter 1.8 EPDnew Ensembl 650.7 +0.6 594 2.4 HDGF PKNOX1 ARID4B SIN3A ZBTB7B YY1 POLR2B ZNF207 ZNF143 KLF13 ASMTL ASMTL-AS1
GH0XJ001391 Promoter 1.9 EPDnew Ensembl 12.6 +61.4 61394 2.4 CLOCK MLX ZFP64 YBX1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF263 LOC105373102 SLC25A6 AKAP17A ASMT ASMTL
GH0XJ001471 Enhancer 1.1 FANTOM5 Ensembl dbSUPER 9 -18.2 -18206 0.8 BACH1 EBF1 EED ATF7 BCLAF1 IKZF2 RUNX3 CREM ZNF687 CBFB P2RY8 AKAP17A ASMTL ASMT CSF2RA
GH0XJ001247 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl 5.7 +204.6 204611 2.4 MXI1 CLOCK USF1 TEAD4 MAX SIN3A ETS1 ZNF121 ZNF366 POLR2A CSF2RA IL3RA ASMTL AKAP17A CRLF2 ASMT P2RY8 SLC25A6
GH0XJ001480 Enhancer 1.5 FANTOM5 Ensembl dbSUPER 5.7 -27.9 -27906 1.8 HDGF PKNOX1 FOXA2 SMAD1 ARID4B DMAP1 IRF4 ZNF766 ZNF143 JUNB CSF2RA P2RY8 ASMTL AKAP17A ASMT IL3RA SLC25A6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASMTL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASMTL gene promoter:
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for ASMTL Gene

Genomic Locations for ASMTL Gene
50,657 bases
Minus strand
50,624 bases
Minus strand

Genomic View for ASMTL Gene

Genes around ASMTL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASMTL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASMTL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASMTL Gene

Proteins for ASMTL Gene

  • Protein details for ASMTL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    N-acetylserotonin O-methyltransferase-like protein
    Protein Accession:
    Secondary Accessions:
    • B4DX75
    • F5GXH4
    • J3JS33
    • Q5JQ53
    • Q8NBH5
    • Q96G02
    • Q9BUL6

    Protein attributes for ASMTL Gene

    621 amino acids
    Molecular mass:
    68857 Da
    Quaternary structure:
    No Data Available
    • The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. It represents a unique fusion product of 2 different genes of different evolutionary origin and function. The N-terminus is homologous to the bacterial maf/orfE genes and the C-terminus is homologous to ASMT. Exon duplication, exon shuffling and gene fusion seem to be common characteristics of the PAR1 region.
    • Sequence=CAA75675.1; Type=Frameshift; Positions=616; Evidence={ECO:0000305}; Sequence=CAA75676.1; Type=Frameshift; Positions=616; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ASMTL Gene

    Alternative splice isoforms for ASMTL Gene


neXtProt entry for ASMTL Gene

Post-translational modifications for ASMTL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ASMTL Gene

Domains & Families for ASMTL Gene

Suggested Antigen Peptide Sequences for ASMTL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-independent O-methyltransferase family.
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-independent O-methyltransferase family.
  • In the N-terminal section; belongs to the maf family.
genes like me logo Genes that share domains with ASMTL: view

Function for ASMTL Gene

Molecular function for ASMTL Gene

UniProtKB/Swiss-Prot Function:
Unknown. The presence of the putative catalytic domain of S-adenosyl-L-methionine binding argues for a methyltransferase activity.
GENATLAS Biochemistry:
acetylserotonin methyltransferase-like due to a unique fusion product of two genes of different evolutionary origin and function,(see ASMTLY)

Enzyme Numbers (IUBMB) for ASMTL Gene

Gene Ontology (GO) - Molecular Function for ASMTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 16189514
GO:0008168 methyltransferase activity IEA --
GO:0008171 O-methyltransferase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with ASMTL: view
genes like me logo Genes that share phenotypes with ASMTL: view

Animal Model Products

CRISPR Products

miRNA for ASMTL Gene

miRTarBase miRNAs that target ASMTL

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASMTL

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ASMTL Gene

Localization for ASMTL Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASMTL gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ASMTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with ASMTL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ASMTL Gene

Pathways & Interactions for ASMTL Gene

SuperPathways for ASMTL Gene

No Data Available

Gene Ontology (GO) - Biological Process for ASMTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with ASMTL: view

No data available for Pathways by source and SIGNOR curated interactions for ASMTL Gene

Drugs & Compounds for ASMTL Gene

(1) Additional Compounds for ASMTL Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
genes like me logo Genes that share compounds with ASMTL: view

Transcripts for ASMTL Gene

Unigene Clusters for ASMTL Gene

Acetylserotonin O-methyltransferase-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASMTL

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASMTL Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14
SP1: - - -
SP2: -
SP4: - - - - -
SP6: -

Relevant External Links for ASMTL Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ASMTL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASMTL Gene

Protein differential expression in normal tissues from HIPED for ASMTL Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ASMTL Gene

Protein tissue co-expression partners for ASMTL Gene

NURSA nuclear receptor signaling pathways regulating expression of ASMTL Gene:


SOURCE GeneReport for Unigene cluster for ASMTL Gene:


mRNA Expression by UniProt/SwissProt for ASMTL Gene:

Tissue specificity: Widely expressed. In adult, highly expressed in pancreas, placenta, fibroblast, thymus, prostate, testis, ovary and colon. Expressed at lower levels in spleen, small intestine and leukocytes. In fetus, expressed at high levels in the lung and kidney and at lower level in brain and liver.

Evidence on tissue expression from TISSUES for ASMTL Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Adrenal gland(4.2)
  • Bone marrow(4.2)
  • Intestine(4.2)
  • Pancreas(4.2)
genes like me logo Genes that share expression patterns with ASMTL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASMTL Gene

Orthologs for ASMTL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ASMTL Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ASMTL 34 33
  • 97.74 (n)
(Canis familiaris)
Mammalia ASMTL 34 33
  • 75.06 (n)
(Bos Taurus)
Mammalia ASMTL 34 33
  • 71.73 (n)
(Monodelphis domestica)
Mammalia ASMTL 34
  • 63 (a)
(Rattus norvegicus)
Mammalia Asmtl 33
  • 58.68 (n)
(Ornithorhynchus anatinus)
Mammalia ASMTL 34
  • 58 (a)
(Gallus gallus)
Aves ASMTL 34 33
  • 63.19 (n)
(Anolis carolinensis)
Reptilia ASMTL 34
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia asmtl 33
  • 59.38 (n)
Str.17108 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25671 33
(Danio rerio)
Actinopterygii asmtl 34 33
  • 58.21 (n)
wufc48g07 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008707 33
  • 52.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9515 34 33
  • 46.8 (n)
(Caenorhabditis elegans)
Secernentea dod-18 34 33
  • 45.34 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL225W 33
  • 50.69 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOR111W 33
  • 48.5 (n)
-- 34
  • 12 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F23628g 33
  • 46.47 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03130 33
  • 54.17 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC3G6.03c 33
  • 46.01 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 18 (a)
Species where no ortholog for ASMTL was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ASMTL Gene

Gene Tree for ASMTL (if available)
Gene Tree for ASMTL (if available)
Evolutionary constrained regions (ECRs) for ASMTL: view image

Paralogs for ASMTL Gene

Paralogs for ASMTL Gene

(1) SIMAP similar genes for ASMTL Gene using alignment to 2 proteins:

  • E7ER97_HUMAN
genes like me logo Genes that share paralogs with ASMTL: view

Variants for ASMTL Gene

Sequence variations from dbSNP and Humsavar for ASMTL Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs111066028 -- 1,407,046(-) A/G intron_variant
rs111066034 -- 1,424,402(-) G/A/C intron_variant
rs111161743 -- 1,406,777(-) C/G intron_variant
rs111161744 -- 1,406,789(-) C/G intron_variant
rs111161745 -- 1,406,818(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ASMTL Gene

Variant ID Type Subtype PubMed ID
dgv1299e201 CNV deletion 23290073
dgv1301e201 CNV deletion 23290073
dgv1302e201 CNV deletion 23290073
dgv4562e59 CNV duplication 20981092
dgv4563e59 CNV duplication 20981092
esv1981196 CNV deletion 18987734
esv2196117 CNV deletion 18987734
esv2246827 CNV deletion 18987734
esv2666429 CNV deletion 23128226
esv2666911 CNV deletion 23128226
esv2667783 CNV deletion 23128226
esv2669866 CNV deletion 23128226
esv2678263 CNV deletion 23128226
esv2739698 CNV deletion 23290073
esv2739703 CNV deletion 23290073
esv2739704 CNV deletion 23290073
esv2739705 CNV deletion 23290073
esv2739706 CNV deletion 23290073
esv2739708 CNV deletion 23290073
esv2739709 CNV deletion 23290073
esv2739710 CNV deletion 23290073
esv2739712 CNV deletion 23290073
esv2739714 CNV deletion 23290073
esv2739716 CNV deletion 23290073
esv2739719 CNV deletion 23290073
esv2739720 CNV deletion 23290073
esv29996 CNV loss 17803354
esv3326708 CNV duplication 20981092
esv3558484 CNV deletion 23714750
esv3558485 CNV deletion 23714750
nsv1075349 CNV deletion 25765185
nsv1076695 CNV duplication 25765185
nsv1077213 CNV deletion 25765185
nsv1078145 CNV duplication 25765185
nsv1078699 CNV duplication 25765185
nsv1115920 CNV duplication 24896259
nsv1119323 CNV duplication 24896259
nsv1119379 CNV duplication 24896259
nsv1126960 CNV deletion 24896259
nsv1129113 CNV duplication 24896259
nsv1141658 CNV duplication 24896259
nsv1144311 CNV deletion 24896259
nsv1146220 CNV duplication 26484159
nsv1152597 CNV duplication 26484159
nsv1152984 CNV duplication 26484159
nsv953723 CNV deletion 24416366

Variation tolerance for ASMTL Gene

Residual Variation Intolerance Score: 94.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.35; 88.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASMTL Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASMTL Gene

Disorders for ASMTL Gene

MalaCards: The human disease database

(2) MalaCards diseases for ASMTL Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
patau syndrome
  • d1 trisomy
carney complex variant
  • carney complex
- elite association - COSMIC cancer census association via MalaCards
Search ASMTL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASMTL

genes like me logo Genes that share disorders with ASMTL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASMTL Gene

Publications for ASMTL Gene

  1. Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL. (PMID: 9736779) Ried K … Rappold GA (Human molecular genetics 1998) 2 3 4 22 58
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for ASMTL Gene

Sources for ASMTL Gene

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