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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ASMTL Gene

protein-coding   GIFtS: 54
GCID: GC0XM001522

acetylserotonin O-methyltransferase-like

 Explore 7 diseases affiliated with
ASMTL via our new
 Human Malady Compendium 
Biological research products
for ASMTL
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Acetylserotonin O-Methyltransferase-Like1 2
ASMTLX2 5
ASTML2 5
ASMTLY2
Acetylserotonin N-Methyltransferase-Like2
N-Acetylserotonin O-Methyltransferase-Like Protein2

External Ids:    HGNC: 7511   Entrez Gene: 86232   Ensembl: ENSG000001690937   OMIM: 3001625   UniProtKB: O956713   

Export aliases for ASMTL gene to outside databases

Previous GC identifers: GC0XM000997 GC0XM000838 GC0XM001102 GC0XM001167 GC0YM001565 GC0XM001565 GC0XM001482


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ASMTL:
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)

UniProtKB/Swiss-Prot: ASML_HUMAN, O95671
Function: Unknown. The presence of the putative catalytic domain of S-adenosyl-L-methionine binding argues for a
methyltransferase activity

Gene Wiki entry for ASMTL


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_000024.9  NC_018934.1  NT_167196.1  NT_167204.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ASMTL gene promoter:
         SREBP-1a   SREBP-1c   SREBP-1b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASMTL promoter sequence
   Search SABiosciences Chromatin IP Primers for ASMTL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASMTL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.3; Yp11.3   Ensembl cytogenetic band:  Xp22.33   HGNC cytogenetic band: Xp22.3 and Yp11.3

ASMTL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASMTL gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM001522:  view genomic region     (about GC identifiers)

Start:
1,522,032 bp from pter      End:
1,572,655 bp from pter
Size:
50,624 bases      Orientation:
minus strand

1 alternative location:
ChrY- 1,472,032-1,522,655     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ASML_HUMAN, O95671 (See protein sequence)
Recommended Name: N-acetylserotonin O-methyltransferase-like protein  
Size: 621 amino acids; 68857 Da
Miscellaneous: The gene encoding 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 caution: Sequence=CAA75675.1; Type=Frameshift; Positions=616; Sequence=CAA75676.1; Type=Frameshift;
Positions=616;
1 PDB 3D structure from and Proteopedia for ASMTL:
2P5X (3D)    
Secondary accessions: J3JS33 Q5JQ53 Q8NBH5 Q96G02 Q9BUL6
Alternative splicing: 2 isoforms:  O95671-1   O95671-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ASMTL: NX_O95671

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95671

  • ASMTL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001166944.1  NP_001166945.1  NP_004183.2  

    ENSEMBL proteins: 
     ENSP00000370734   ENSP00000370718   ENSP00000410578   ENSP00000446410  

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    Uscn Proteins for ASMTL

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ----
    GO:0005737cytoplasm IDA--


    ASMTL for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ASMTL for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011991 WHTH_trsnscrt_rep_DNA-bd_dom
     IPR003697 Maf
     IPR001077 O_MeTrfase_2

    Graphical View of Domain Structure for InterPro Entry O95671

    ProtoNet protein and cluster: O95671

    2 Blocks protein families:
    IPB001077 O-methyltransferase
    IPB003697 Maf-like protein


    UniProtKB/Swiss-Prot: ASML_HUMAN, O95671
    Similarity: In the N-terminal section; belongs to the maf family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ASML_HUMAN, O95671
    Function: Unknown. The presence of the putative catalytic domain of S-adenosyl-L-methionine binding argues for a
    methyltransferase activity

         Genatlas biochemistry entry for ASMTL:
    acetylserotonin methyltransferase-like due to a unique fusion product of two genes of different evolutionary origin and
    function,(see ASMTLY)

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0008171O-methyltransferase activity IEA--


    ASMTL for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ASMTL

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/7 Interacting proteins for ASMTL (O956713 ENSP000003707184) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    TDO2P487753I2D: score=4 
    GBASO753233I2D: score=1 
    NIF3L1Q9GZT83I2D: score=1 
    TPH2ENSP000003290934STRING: ENSP00000329093
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--


    ASMTL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ASMTL

    1 HMDB Compound for ASMTL    About this table
    CompoundSynonyms CAS #PubMed Ids
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--
    Search CenterWatch for drugs/clinical trials and news about ASMTL / ASML 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ASMTL gene (3 alternative transcripts): 
    NM_001173473.1  NM_001173474.1  NM_004192.3  

    Unigene Cluster for ASMTL:

    Acetylserotonin O-methyltransferase-like
    Hs.533514  [show with all ESTs]
    Unigene Representative Sequence: NM_004192
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381333(uc004cpx.2 uc004cpy.2 uc011mhe.2) ENST00000381317
    ENST00000463763 ENST00000462195 ENST00000474865 ENST00000416733 ENST00000534940(uc011mhf.2)


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    Additional cDNA sequence: 

    AK001090.1 AK090498.1 AK225770.1 AK297805.1 AK299231.1 AK301844.1 BC002508.2 BC010089.2 

    24/30 DOTS entries (see all 30):

    DT.92325693  DT.413261  DT.121289349  DT.100794237  DT.120653685  DT.121289295  DT.100794235  DT.120653694 
    DT.121289334  DT.121289335  DT.92048276  DT.97792874  DT.100704918  DT.100794234  DT.100871016  DT.120653726 
    DT.120653733  DT.121289294  DT.121289298  DT.95317427  DT.100027874  DT.101973119  DT.120653684  DT.121289276 

    24/237 AceView cDNA sequences (see all 237):

    BM716325 H24189 AL547868 BP366756 BU738310 BU845336 CR605489 BU855747 
    BM785581 CR622364 BM927101 BM129217 BG758205 BX370785 BU688748 BM807492 
    BF222745 BU846406 BU629147 BP340926 BP366263 BQ575552 BQ947521 BI755643 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ASMTL (see all 7)    About this scheme

    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:                                                        -                                                                           
    SP3:                                                                                                                                    
    SP4:              -                 -           -     -     -                                                                           
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for ASMTL

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ASMTL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCATTATAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ASMTL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASMTL

    SOURCE GeneReport for Unigene cluster: Hs.533514

    UniProtKB/Swiss-Prot: ASML_HUMAN, O95671
    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

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for ASMTL gene from 8/33 species (see all 33)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ASMTL1 acetylserotonin O-methyltransferase-like 63.32(n)
    63.37(a)
      769097  XM_001231913.2  XP_001231914.2 
    lizard
    (Anolis carolinensis)
    Reptilia ASMTL6
    --
    60(a)
    1 ↔ 1
    3(113259239-113281845)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.256712 Xenopus laevis transcribed sequence with moderate similarity more 73.28(n)    BX844544.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc48g072 Danio rerio cDNA clone MGC63714 IMAGE2601966, complete more 74.25(n)    BC055218.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG95156
    --
    40(a)
    1 ↔ 1
    2L(8939780-8943264)
    worm
    (Caenorhabditis elegans)
    Secernentea dod-181 Protein DOD-18 45.34(n)
    38.17(a)
      183813  NM_059804.2  NP_492205.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YOR111W1 hypothetical protein 48(n)
    37.5(a)
      854278   NP_014754.3 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria yhdE6
    yceF6
    Maf-like protein
    37(a)
    27(a)
    possible ortholog
    possible ortholog
    Chromosome(3395807-3396400)
    Chromosome(1145234-1145818)
            Species with no ortholog for ASMTL

    ENSEMBL Gene Tree for ASMTL (if available)
    TreeFam Gene Tree for ASMTL (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ASMTL gene
    ASMT2  
    1 SIMAP similar gene for ASMTL using alignment to 3 protein entries:     ASML_HUMAN (see all proteins):
    ASMT

    ASMTL for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ASMTL
         1 Indel: 47783
    Human Gene Mutation Database (HGMD): ASMTL

    Locus Specific Mutation Databases (LSDB): ASMTL
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ASMTL for disorders           About GeneDecksing

    OMIM gene information: 300162    OMIM disorders: --

    7 diseases for ASMTL:    About MalaCards
    patau syndrome    fanconi's anemia    anemia    tuberculosis
    malaria    prostatitis    mycobacterium tuberculosis

    1 disease from the University of Copenhagen DISEASES database for ASMTL:
    Patau syndrome

    Export disorders for ASMTL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ASMTL gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with ASMTL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL. (PubMed id 9736779)1, 2, 3, 9 Ried K.... Rappold G.A. (1998)
    2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    10. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8623 HGNC: 751 AceView: ASMTL.1 Ensembl:ENSG00000169093 euGenes: HUgn8623
    ECgene: ASMTL H-InvDB: ASMTL

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ASMTL Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ASMTL gene:
    Search GeneIP for patents involving ASMTL

    GeneCards and IP:
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