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Aliases for ASMT Gene

Aliases for ASMT Gene

  • Acetylserotonin O-Methyltransferase 2 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 pineoblastoma and pineocytoma. Among its related pathways are Metabolism and Tryptophan metabolism. 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

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

Genomics for ASMT Gene

Regulatory Elements for ASMT Gene

Enhancers for ASMT Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ASMT on UCSC Golden Path with GeneCards custom track

Genomic Location for ASMT Gene

Chromosome:
X
Start:
1,595,455 bp from pter
End:
1,643,081 bp from pter
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

Proteomics data for ASMT Gene at MOPED

Post-translational modifications for ASMT Gene

No Post-translational modifications

Other Protein References for ASMT Gene

Antibody Products

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

GENATLAS Biochemistry:
methyltransferase,hydroxyindole-O,catalyzing the final step of melatonin synthesis,expressed in the pineal gland
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + N-acetylserotonin = S-adenosyl-L-homocysteine + melatonin.
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 Induction:
By all-trans-, 9-cis- and 13-cis-retinoic acid and by serum treatment, following starvation, in the retinoblastoma cell line Y79.

Enzyme Numbers (IUBMB) for ASMT Gene

Gene Ontology (GO) - Molecular Function for ASMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008171 O-methyltransferase activity IEA,TAS 8397829
GO:0008172 S-methyltransferase activity TAS --
GO:0017096 acetylserotonin O-methyltransferase activity IDA 22775292
GO:0042803 protein homodimerization activity IPI 22775292
genes like me logo Genes that share ontologies with ASMT: view
genes like me logo Genes that share phenotypes with ASMT: view

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

Localization for ASMT Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASMT Gene COMPARTMENTS Subcellular localization image for ASMT gene
Compartment Confidence
cytosol 5
mitochondrion 2
chloroplast 1
cytoskeleton 1
extracellular 1
nucleus 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ASMT Gene

Pathways & Interactions for ASMT Gene

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

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:0032259 methylation IEA --
GO:0044281 small molecule metabolic 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Melatonin Approved Nutra Antagonist, Target, Enzyme, substrate Melatonin receptors MT inhibitor 239
S-Adenosylmethionine Approved Nutra 0
n-acetylserotonin Experimental Pharma 0
s-adenosylhomocysteine Experimental Pharma 0

(6) 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-acetate
  • 5-Hydroxy-1H-indole-3-acetic acid
  • 5-Hydroxy-3-indolylacetate
  • 5-Hydroxy-IAA
54-16-0
5-Methoxyindoleacetate
  • 5-Methoxyindol-3-ylacetate
  • 5-Methoxyindol-3-ylacetic acid
  • 5-Methoxyindole-3-acetate
  • 5-Methoxyindole-3-acetic acid
  • 5-Methoxyindoleacetate
608-07-1
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:

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 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, PaxDb, and MOPED for ASMT Gene



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).
genes like me logo Genes that share expression patterns with ASMT: view

Protein tissue co-expression partners for ASMT Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues 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 35
  • 76.81 (n)
  • 71.01 (a)
ASMT 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Asmt 35
  • 60.2 (n)
  • 52.84 (a)
cow
(Bos Taurus)
Mammalia ASMT 36
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ASMT 36
  • 54 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Asmt 36
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASMT 36
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASMT 35
  • 62.51 (n)
  • 57.1 (a)
ASMT 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 44 (a)
OneToMany
-- 36
  • 47 (a)
OneToMany
-- 36
  • 43 (a)
OneToMany
-- 36
  • 55 (a)
OneToMany
-- 36
  • 43 (a)
OneToMany
-- 36
  • 44 (a)
OneToMany
-- 36
  • 43 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia asmt 35
  • 59.62 (n)
  • 51.7 (a)
Str.8492 35
zebrafish
(Danio rerio)
Actinopterygii asmt 35
  • 61.11 (n)
  • 51.82 (a)
asmt 36
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9515 36
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dod-18 36
  • 16 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 15 (a)
OneToMany
Species with no ortholog for ASMT:
  • 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)

Paralogs for ASMT Gene

Paralogs for ASMT Gene

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

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 Sequence Context AA Info Type
VAR_045991 -
VAR_069111 -
VAR_069112 -
VAR_069113 -
VAR_069114 -

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

Variant ID Type Subtype PubMed ID
esv29996 CNV Loss 17803354
nsv510811 CNV Loss 20534489
esv2657890 CNV Deletion 23128226
esv2314773 CNV Deletion 18987734
esv2739741 CNV Deletion 23290073
esv2739742 CNV Deletion 23290073
esv2739743 CNV Deletion 23290073
dgv1391e199 CNV Deletion 23128226
esv2677663 CNV Deletion 23128226
esv2662274 CNV Deletion 23128226
esv2739744 CNV Deletion 23290073
esv2739745 CNV Deletion 23290073
esv2739746 CNV Deletion 23290073
esv1988316 CNV Deletion 18987734
esv2739747 CNV Deletion 23290073
esv2665745 CNV Deletion 23128226
esv21704 CNV Gain+Loss 19812545
esv2739748 CNV Deletion 23290073
esv2739749 CNV Deletion 23290073
esv2739750 CNV Deletion 23290073
esv2666469 CNV Deletion 23128226
esv2661143 CNV Deletion 23128226
esv2739752 CNV Deletion 23290073
dgv1364e201 CNV Deletion 23290073
esv2669510 CNV Deletion 23128226
esv2739754 CNV Deletion 23290073
esv24971 CNV Gain+Loss 19812545
nsv821241 CNV Deletion 20802225
esv2381959 CNV Deletion 18987734
dgv1365e201 CNV Deletion 23290073
esv2739756 CNV Deletion 23290073
dgv1366e201 CNV Deletion 23290073
esv2739759 CNV Deletion 23290073
esv2662510 CNV Deletion 23128226
esv2658498 CNV Deletion 23128226
esv2739764 CNV Deletion 23290073
esv2739765 CNV Deletion 23290073
esv2739766 CNV Deletion 23290073
esv2739767 CNV Deletion 23290073
nsv510871 CNV Loss 20534489

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)

Relevant External Links for ASMT Gene

HapMap Linkage Disequilibrium report
ASMT
Human Gene Mutation Database (HGMD)
ASMT

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

Disorders for ASMT Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
pineoblastoma
  • pineal pnet
pineocytoma
  • pinealoma
pineal parenchymal tumor of intermediate differentiation
  • pineal parenchymal tumour of intermediate differentiation
pineal gland cancer
  • malignant pineal region tumor
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

Relevant External Links for ASMT

Genetic Association Database (GAD)
ASMT
Human Genome Epidemiology (HuGE) Navigator
ASMT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASMT
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. Human hydroxyindole-O-methyltransferase: presence of LINE-1 fragment in a cDNA clone and pineal mRNA. (PMID: 8397829) Donohue S.J. … Klein D.C. (DNA Cell Biol. 1993) 2 3 4 23 67
  2. Structural analysis of the human hydroxyindole-O-methyltransferase gene. Presence of two distinct promoters. (PMID: 7989373) Rodriguez I.R. … Chader G.J. (J. Biol. Chem. 1994) 2 3 23
  3. Mutation screening of melatonin-related genes in patients with autism spectrum disorders. (PMID: 20377855) Jonsson L. … Melke J. (BMC Med Genomics 2010) 3 23
  4. Expression of hydroxyindole-O-methyltransferase enzyme in the human central nervous system and in pineal parenchymal cell tumors. (PMID: 20418777) Fukuda T. … Saito S. (J. Neuropathol. Exp. Neurol. 2010) 3 23
  5. Single-nucleotide polymorphisms and mRNA expression for melatonin synthesis rate-limiting enzyme in recurrent depressive disorder. (PMID: 20433639) GaA8ecki P. … Karbownik-LewiA8ska M. (J. Pineal Res. 2010) 3 23

Products for ASMT Gene

Sources for ASMT Gene

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