Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ASMT Gene

Aliases for ASMT Gene

  • Acetylserotonin O-Methyltransferase 2 3 3 5
  • Hydroxyindole O-Methyltransferase 3 4
  • HIOMT 3 4
  • Acetylserotonin Methyltransferase (Y Chromosome) 3
  • Acetylserotonin N-Methyltransferase 3
  • EC 2.1.1.4 4
  • HIOMTY 3
  • ASMTY 3

External Ids for ASMT Gene

Previous GeneCards Identifiers for ASMT Gene

  • GC0XP001185
  • GC0XP001125
  • GC0XP001294
  • GC0XP001359
  • GC0XP001356
  • GC0YP001758
  • GC0XP001758
  • GC0XP001714

Summaries for ASMT Gene

Entrez Gene Summary for ASMT Gene

  • This gene belongs to the methyltransferase superfamily, and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. The encoded enzyme catalyzes the final reaction in the synthesis of melatonin, and is abundant in the pineal gland. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2010]

GeneCards Summary for ASMT Gene

ASMT (Acetylserotonin O-Methyltransferase) is a Protein Coding gene. Diseases associated with ASMT include Pineocytoma and Pineoblastoma. Among its related pathways are Biogenic Amine Synthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and methyltransferase activity. An important paralog of this gene is ASMTL.

UniProtKB/Swiss-Prot for ASMT Gene

  • Isoform 1 catalyzes the transfer of a methyl group onto N-acetylserotonin, producing melatonin (N-acetyl-5-methoxytryptamine). Isoform 2 and isoform 3 lack enzyme activity.

Gene Wiki entry for ASMT Gene

Additional gene information for ASMT Gene

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

Genomics for ASMT Gene

GeneHancer (GH) Regulatory Elements for ASMT Gene

Promoters and enhancers for ASMT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ001614 Promoter 0.5 EPDnew 650.4 +19.5 19518 0.1 ASMT AKAP17A LOC105373105
GH0XJ001615 Promoter 0.5 EPDnew 650.4 +19.7 19690 0.1 ASMT AKAP17A LOC105373105
GH0XJ001391 Promoter 1.9 EPDnew Ensembl 14.8 -203.1 -203054 2.4 CLOCK MLX ZFP64 YBX1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF263 SLC25A6 LOC105373102 AKAP17A ASMT ASMTL
GH0XJ001380 Enhancer 0.5 Ensembl 10.2 -214.6 -214554 0.2 HNRNPUL1 SSRP1 POLR2A VEZF1 KDM1A SNRNP70 ZNF423 LOC101928055 AKAP17A ASMT IL3RA
GH0XJ001405 Enhancer 0.6 FANTOM5 8.4 -189.8 -189798 0.3 ZNF776 ZNF473 ZNF571 ZNF114 ZBTB17 AKAP17A ASMT ASMTL SLC25A6 CRLF2 P2RY8 CSF2RA IL3RA ASMTL-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASMT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASMT gene promoter:
  • RelA
  • NF-kappaB1
  • NF-kappaB
  • p53
  • PPAR-alpha

Genomic Locations for ASMT Gene

Genomic Locations for ASMT Gene
chrX:1,595,455-1,643,081
(GRCh38/hg38)
Size:
47,627 bases
Orientation:
Plus strand
chrX:1,714,348-1,761,974
(GRCh37/hg19)
Size:
47,627 bases
Orientation:
Plus strand

Genomic View for ASMT Gene

Genes around ASMT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ASMT Gene

Proteins for ASMT Gene

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

    Protein Symbol:
    P46597-ASMT_HUMAN
    Recommended name:
    Acetylserotonin O-methyltransferase
    Protein Accession:
    P46597
    Secondary Accessions:
    • B2RC33
    • Q16598
    • Q5JQ72
    • Q5JQ73

    Protein attributes for ASMT Gene

    Size:
    345 amino acids
    Molecular mass:
    38453 Da
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.

    Three dimensional structures from OCA and Proteopedia for ASMT Gene

    Alternative splice isoforms for ASMT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASMT Gene

Post-translational modifications for ASMT Gene

No Post-translational modifications

Other Protein References for ASMT Gene

No data available for DME Specific Peptides for ASMT Gene

Domains & Families for ASMT Gene

Gene Families for ASMT Gene

Suggested Antigen Peptide Sequences for ASMT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P46597

UniProtKB/Swiss-Prot:

ASMT_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-independent O-methyltransferase family.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-independent O-methyltransferase family.
genes like me logo Genes that share domains with ASMT: view

Function for ASMT Gene

Molecular function for ASMT Gene

UniProtKB/Swiss-Prot Function:
Isoform 1 catalyzes the transfer of a methyl group onto N-acetylserotonin, producing melatonin (N-acetyl-5-methoxytryptamine). Isoform 2 and isoform 3 lack enzyme activity.
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + N-acetylserotonin = S-adenosyl-L-homocysteine + melatonin.
UniProtKB/Swiss-Prot Induction:
By all-trans-, 9-cis- and 13-cis-retinoic acid and by serum treatment, following starvation, in the retinoblastoma cell line Y79.
GENATLAS Biochemistry:
methyltransferase,hydroxyindole-O,catalyzing the final step of melatonin synthesis,expressed in the pineal gland

Enzyme Numbers (IUBMB) for ASMT Gene

Gene Ontology (GO) - Molecular Function for ASMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity IEA --
GO:0008171 O-methyltransferase activity IEA,TAS 8397829
GO:0008172 S-methyltransferase activity TAS --
GO:0008757 S-adenosylmethionine-dependent methyltransferase activity IBA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with ASMT: view
genes like me logo Genes that share phenotypes with ASMT: view

Animal Model Products

Clone Products

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

Localization for ASMT Gene

Subcellular locations from

COMPARTMENTS
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 ASMT gene
Compartment Confidence
cytosol 5
mitochondrion 2
extracellular 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ASMT Gene

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ASMT Gene

Pathways & Interactions for ASMT Gene

genes like me logo Genes that share pathways with ASMT: view

Pathways by source for ASMT Gene

UniProtKB/Swiss-Prot P46597-ASMT_HUMAN

  • Pathway: Aromatic compound metabolism; melatonin biosynthesis; melatonin from serotonin: step 1/2.

Gene Ontology (GO) - Biological Process for ASMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation TAS 8397829
GO:0019438 aromatic compound biosynthetic process IBA --
GO:0030187 melatonin biosynthetic process IEA --
GO:0032259 methylation IEA --
GO:0046219 indolalkylamine biosynthetic process TAS --
genes like me logo Genes that share ontologies with ASMT: view

No data available for SIGNOR curated interactions for ASMT Gene

Drugs & Compounds for ASMT Gene

(4) Drugs for ASMT Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Melatonin Approved, Vet_approved Nutra Antagonist, Full agonist, Agonist, Target, Enzyme, substrate Melatonin receptors MT inhibitor, Endogenous hormone; agonist at MT1 and MT2 292
s-adenosylhomocysteine Experimental Pharma 0

(8) Additional Compounds for ASMT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Hydroxyindoleacetic acid
  • 5-HIAA
  • 5-Hydroxy-1H-indole-3-acetic acid
  • 5-Hydroxyindol-3-ylacetic acid
  • 5-Hydroxyindole-3-acetic acid
  • 5-Hydroxyindoleacetate
54-16-0
5-Methoxyindoleacetate
  • 2-(5-Methoxy-1H-indol-3-yl)ethanoic acid
  • 2-(5-Methoxyindole-3-yl)acetic acid
  • 5-Methoxyindol-3-ylacetic acid
  • 5-Methoxyindoleacetic acid
  • 2-(5-Methoxy-1H-indol-3-yl)ethanoate
3471-31-6
n-acetylserotonin
  • N-(2-(5-Hydroxy-1H-indol-3-yl)ethyl)acetamide
  • N-Acetyl-5-hydroxytryptamine
  • 5-Hydroxy-N-acetyltryptamine
  • 5-Hydroxymelatonin
  • ASE
1210-83-9
s-adenosylmethionine
  • (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
485-80-3
genes like me logo Genes that share compounds with ASMT: view

Transcripts for ASMT Gene

Unigene Clusters for ASMT Gene

Acetylserotonin O-methyltransferase:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9
SP1: - - -
SP2: - - - - -
SP3: - - -
SP4:

Relevant External Links for ASMT Gene

GeneLoc Exon Structure for
ASMT
ECgene alternative splicing isoforms for
ASMT

Expression for ASMT Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ASMT Gene

This gene is overexpressed in Heart (69.0).

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



Protein tissue co-expression partners for ASMT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ASMT Gene:

ASMT

SOURCE GeneReport for Unigene cluster for ASMT Gene:

Hs.522572

mRNA Expression by UniProt/SwissProt for ASMT Gene:

P46597-ASMT_HUMAN
Tissue specificity: Expressed in the pineal gland (at protein level). In the retina, very low expression is found at the mRNA level (PubMed:7989373), and not at the protein level (PubMed:8574683).

Evidence on tissue expression from TISSUES for ASMT Gene

  • Nervous system(4.7)
  • Eye(4.6)
  • Intestine(2.4)
genes like me logo Genes that share expression patterns with ASMT: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASMT Gene

Orthologs for ASMT Gene

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

Orthologs for ASMT Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia ASMT 34 33
  • 76.81 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ASMT 34
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Asmt 33
  • 60.2 (n)
oppossum
(Monodelphis domestica)
Mammalia ASMT 34
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASMT 34
  • 53 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Asmt 34
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASMT 34 33
  • 62.51 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 55 (a)
OneToMany
-- 34
  • 47 (a)
OneToMany
-- 34
  • 44 (a)
OneToMany
-- 34
  • 44 (a)
OneToMany
-- 34
  • 43 (a)
OneToMany
-- 34
  • 43 (a)
OneToMany
-- 34
  • 43 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia asmt 33
  • 59.62 (n)
Str.8492 33
zebrafish
(Danio rerio)
Actinopterygii asmt 34 33
  • 61.11 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9515 34
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dod-18 34
  • 16 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 15 (a)
OneToMany
Species where no ortholog for ASMT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • 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 ASMT Gene

ENSEMBL:
Gene Tree for ASMT (if available)
TreeFam:
Gene Tree for ASMT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASMT: view image

Paralogs for ASMT Gene

Paralogs for ASMT Gene

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

  • ASMT_HUMAN
  • I7HFW6_HUMAN
genes like me logo Genes that share paralogs with ASMT: view

Variants for ASMT Gene

Sequence variations from dbSNP and Humsavar for ASMT Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs199647924 uncertain-significance, not specified 1,623,156(+) C/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs10534149 -- 1,607,473(+) TAATTAAT/TAAT genic_upstream_transcript_variant, intron_variant
rs10582998 -- 1,629,083(+) TATATATATATATAT/TATATATATAT/TATATATATATAT intron_variant
rs111161782 -- 1,596,662(+) T/C genic_upstream_transcript_variant, intron_variant
rs111161783 -- 1,596,666(+) T/A genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv1306e201 CNV deletion 23290073
dgv1307e201 CNV deletion 23290073
dgv1308e201 CNV deletion 23290073
dgv1391e199 CNV deletion 23128226
dgv4335n106 CNV deletion 24896259
dgv500e215 CNV deletion 23714750
esv1988316 CNV deletion 18987734
esv21704 CNV gain+loss 19812545
esv2314773 CNV deletion 18987734
esv2381959 CNV deletion 18987734
esv24971 CNV gain+loss 19812545
esv2657890 CNV deletion 23128226
esv2658498 CNV deletion 23128226
esv2661143 CNV deletion 23128226
esv2662274 CNV deletion 23128226
esv2662510 CNV deletion 23128226
esv2665745 CNV deletion 23128226
esv2666469 CNV deletion 23128226
esv2669510 CNV deletion 23128226
esv2677663 CNV deletion 23128226
esv2739741 CNV deletion 23290073
esv2739742 CNV deletion 23290073
esv2739743 CNV deletion 23290073
esv2739744 CNV deletion 23290073
esv2739745 CNV deletion 23290073
esv2739746 CNV deletion 23290073
esv2739747 CNV deletion 23290073
esv2739748 CNV deletion 23290073
esv2739749 CNV deletion 23290073
esv2739750 CNV deletion 23290073
esv2739752 CNV deletion 23290073
esv2739754 CNV deletion 23290073
esv2739756 CNV deletion 23290073
esv2739759 CNV deletion 23290073
esv2739764 CNV deletion 23290073
esv2739765 CNV deletion 23290073
esv2739766 CNV deletion 23290073
esv2739767 CNV deletion 23290073
esv29996 CNV loss 17803354
esv3020457 CNV deletion 24192839
esv3324075 CNV duplication 20981092
esv3362411 CNV duplication 20981092
esv3412876 CNV duplication 20981092
esv3558497 CNV deletion 23714750
esv3558498 CNV deletion 23714750
esv3558501 CNV deletion 23714750
esv3558502 CNV deletion 23714750
esv3558503 CNV deletion 23714750
nsv1077216 CNV deletion 25765185
nsv1077256 CNV deletion 25765185
nsv1078146 CNV duplication 25765185
nsv1122258 CNV deletion 24896259
nsv1125074 CNV duplication 24896259
nsv1125145 CNV duplication 24896259
nsv1140089 CNV duplication 24896259
nsv1145279 CNV deletion 24896259
nsv1151428 CNV duplication 26484159
nsv510811 CNV deletion 20534489
nsv821241 CNV deletion 20802225
nsv953394 CNV deletion 24416366

Variation tolerance for ASMT Gene

Residual Variation Intolerance Score: 95.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.85; 83.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASMT Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ASMT Gene

MalaCards: The human disease database

(7) MalaCards diseases for ASMT Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pineocytoma
  • pinealoma
pineoblastoma
  • pineal pnet
pineal gland cancer
  • malignant pineal region tumor
pineal parenchymal tumor of intermediate differentiation
  • pineal parenchymal tumour of intermediate differentiation
branchiootic syndrome
  • branchiootic syndrome 1
- elite association - COSMIC cancer census association via MalaCards
Search ASMT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASMT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ASMT: view

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

Publications for ASMT Gene

  1. Structural analysis of the human hydroxyindole-O-methyltransferase gene. Presence of two distinct promoters. (PMID: 7989373) Rodriguez IR … Chader GJ (The Journal of biological chemistry 1994) 2 3 4 22 58
  2. Human hydroxyindole-O-methyltransferase: presence of LINE-1 fragment in a cDNA clone and pineal mRNA. (PMID: 8397829) Donohue SJ … Klein DC (DNA and cell biology 1993) 2 3 4 22 58
  3. Single-nucleotide polymorphisms and mRNA expression for melatonin synthesis rate-limiting enzyme in recurrent depressive disorder. (PMID: 20433639) Gałecki P … Karbownik-Lewińska M (Journal of pineal research 2010) 3 22 44 58
  4. Crystal structure and functional mapping of human ASMT, the last enzyme of the melatonin synthesis pathway. (PMID: 22775292) Botros HG … Bourgeron T (Journal of pineal research 2013) 3 4 58
  5. Sequencing ASMT identifies rare mutations in Chinese Han patients with autism. (PMID: 23349736) Wang L … Zhang D (PloS one 2013) 3 4 58

Products for ASMT Gene

Sources for ASMT Gene

Content
Loading form....