Human Gene ASMT (uc010ncy.3) Description and Page Index
  Description: Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 1, mRNA.
RefSeq Summary (NM_001171038): 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].
Transcript (Including UTRs)
   Position: hg19 chrX:1,733,941-1,761,974 Size: 28,034 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chrX:1,734,093-1,761,907 Size: 27,815 Coding Exon Count: 9 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chrX:1,733,941-1,761,974)mRNA (may differ from genome)Protein (373 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsH-INV

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ASMT
CDC HuGE Published Literature: ASMT

-  MalaCards Disease Associations
  MalaCards Gene Search: ASMT
Diseases sorted by gene-association score: pineocytoma (20), pineoblastoma (19), pineal gland cancer (10), pineal parenchymal tumor of intermediate differentiation (9), branchiootic syndrome (6), autism spectrum disorder (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.71 RPKM in Pituitary
Total median expression: 7.67 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -59.10152-0.389 Picture PostScript Text
3' UTR -10.9067-0.163 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR025781 - AS_MeTrfase
IPR016461 - O-MeTrfase_CAOMT-type
IPR001077 - O_MeTrfase_2
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF00891 - O-methyltransferase
PF08241 - Methyltransferase domain
PF16864 - Dimerisation domain

SCOP Domains:
46785 - "Winged helix" DNA-binding domain
53335 - S-adenosyl-L-methionine-dependent methyltransferases

ModBase Predicted Comparative 3D Structure on I7HJJ3
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Descriptions from all associated GenBank mRNAs
  U11090 - Human hydroxyindole-O-methyltransferase promoter A-derived (HIOMT) mRNA, complete cds.
AK314922 - Homo sapiens cDNA, FLJ95831, highly similar to Homo sapiens acetylserotonin O-methyltransferase (ASMT), mRNA.
U11091 - Human hydroxyindole-O-methyltransferase promoter B-derived (HIOMT) mRNA, complete cds.
JD336892 - Sequence 317916 from Patent EP1572962.
JD222946 - Sequence 203970 from Patent EP1572962.
JD292985 - Sequence 274009 from Patent EP1572962.
M83779 - Homo sapiens (clone 179 or 217) hydroxyindole-O-methyltransferase (HIOMT) mRNA, complete cds.
BC001620 - Homo sapiens acetylserotonin O-methyltransferase, mRNA (cDNA clone MGC:2145 IMAGE:3356470), complete cds.
KJ534774 - Homo sapiens clone ASMT_iso-B_adult-A07 acetylserotonin O-methyltransferase isoform B (ASMT) mRNA, partial cds, alternatively spliced.
KJ534775 - Homo sapiens clone ASMT_iso-C_fetal-F03 acetylserotonin O-methyltransferase isoform C (ASMT) mRNA, partial cds, alternatively spliced.
KJ534776 - Homo sapiens clone ASMT_iso-B_fetal-F04 acetylserotonin O-methyltransferase isoform B (ASMT) mRNA, partial cds, alternatively spliced.
KJ535045 - Homo sapiens clone ASMT_iso-A_fetal-F13 acetylserotonin O-methyltransferase isoform A (ASMT) mRNA, complete cds, alternatively spliced.
KJ896465 - Synthetic construct Homo sapiens clone ccsbBroadEn_05859 ASMT gene, encodes complete protein.
AY037933 - Homo sapiens hydroxyindole-O-methyltransferase mRNA, partial sequence, alternatively spliced.
JD058129 - Sequence 39153 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00380 - Tryptophan metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-6030 - serotonin and melatonin biosynthesis
PWY3DJ-5 - biosynthesis of serotonin and melatonin

-  Other Names for This Gene
  Alternate Gene Symbols: hCG_1981394, I7HJJ3, I7HJJ3_HUMAN, NM_001171038, NP_004034
UCSC ID: uc010ncy.3
RefSeq Accession: NM_001171038
Protein: I7HJJ3 CCDS: CCDS14117.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001171038.1
exon count: 9CDS single in 3' UTR: no RNA size: 1378
ORF size: 1122CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1322.00frame shift in genome: no % Coverage: 97.31
has start codon: yes stop codon in genome: no # of Alignments: 2
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 85# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.