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AANAT Gene

protein-coding   GIFtS: 61
GCID: GC17P074449

Aralkylamine N-Acetyltransferase

(Previous name: arylalkylamine N-acetyltransferase)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Aralkylamine N-Acetyltransferase1 2 3     Serotonin Acetylase2 3
SNAT2 3 5     EC 2.3.1.873 8
Arylalkylamine N-Acetyltransferase1 2     DSPS2 5
Serotonin N-Acetyltransferase1 2     AA-NAT3

External Ids:    HGNC: 191   Entrez Gene: 152   Ensembl: ENSG000001296737   OMIM: 6009505   UniProtKB: Q166133   

Export aliases for AANAT gene to outside databases

Previous GC identifers: GC17P074297 GC17P077455 GC17P074927 GC17P075060 GC17P071975 GC17P069877


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AANAT Gene:
The protein encoded by this gene belongs to the acetyltransferase superfamily. It is the penultimate enzyme in
melatonin synthesis and controls the night/day rhythm in melatonin production in the vertebrate pineal gland.
Melatonin is essential for the function of the circadian clock that influences activity and sleep. This enzyme is
regulated by cAMP-dependent phosphorylation that promotes its interaction with 14-3-3 proteins and thus protects
the enzyme against proteasomal degradation. This gene may contribute to numerous genetic diseases such as delayed
sleep phase syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for
this gene. (provided by RefSeq, Oct 2009)

GeneCards Summary for AANAT Gene:
AANAT (aralkylamine N-acetyltransferase) is a protein-coding gene. Diseases associated with AANAT include delayed sleep phase syndrome, and pineocytoma. GO annotations related to this gene include aralkylamine N-acetyltransferase activity.

UniProtKB/Swiss-Prot: SNAT_HUMAN, Q16613
Function: Controls the night/day rhythm of melatonin production in the pineal gland. Catalyzes the N-acetylation
of serotonin into N-acetylserotonin, the penultimate step in the synthesis of melatonin

summary for AANAT Gene:
Arylalkylamine N-acetyltransferase (AANAT) is involved in the production of melatonin. It is expressed in
the pineal gland and retina, where its activity is highest at night or in darkness, and lowest during
daylight hours.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the AANAT gene promoter:
         Pax-5   MIF-1   E47   CREB   MZF-1   AREB6   Nkx6-1   deltaCREB   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAANAT promoter sequence
   Search Chromatin IP Primers for AANAT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AANAT


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

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.1

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P074449:  view genomic region     (about GC identifiers)

Start:
74,449,433 bp from pter      End:
74,466,199 bp from pter
Size:
16,767 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SNAT_HUMAN, Q16613 (See protein sequence)
Recommended Name: Serotonin N-acetyltransferase  
Size: 207 amino acids; 23344 Da
Subunit: Monomer (By similarity). Interacts with several 14-3-3 proteins, including YWHAB, YWHAE, YWHAG and YWHAZ,
preferentially when phosphorylated at Thr-31. Phosphorylation on Ser-205 also allows binding to YWHAZ, but with
lower affinity. The interaction with YWHAZ considerably increases affinity for arylalkylamines and acetyl-CoA and
protects the enzyme from dephosphorylation and proteasomal degradation (By similarity). It may also prevent
thiol-dependent inactivation (By similarity)
Secondary accessions: A0AVF2 Q562F4

Explore the universe of human proteins at neXtProt for AANAT: NX_Q16613

Explore proteomics data for AANAT at MOPED

Post-translational modifications: 

  • cAMP-dependent phosphorylation on both N-terminal Thr-31 and C-terminal Ser-205 regulates AANAT activity by
    promoting interaction with 14-3-3 proteins1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for AANAT (Q16613) (see all 5)
     QRRHTLPA  GPCAITVGSL  LVAFIIGSLWD  FEIEREAFISV 


    See AANAT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001079.1  NP_001160051.1  

    ENSEMBL proteins: 
     ENSP00000250615   ENSP00000376282   ENSP00000468239   ENSP00000468717  
    Reactome Protein details: Q16613

    AANAT Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for AANAT


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR000182 GNAT_dom
     IPR016181 Acyl_CoA_acyltransferase

    Graphical View of Domain Structure for InterPro Entry Q16613

    ProtoNet protein and cluster: Q16613

    1 Blocks protein domain: IPB000182 GCN5-related N-acetyltransferase

    UniProtKB/Swiss-Prot: SNAT_HUMAN, Q16613
    Similarity: Belongs to the acetyltransferase family. AANAT subfamily
    Similarity: Contains 1 N-acetyltransferase domain


    AANAT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SNAT_HUMAN, Q16613
    Function: Controls the night/day rhythm of melatonin production in the pineal gland. Catalyzes the N-acetylation
    of serotonin into N-acetylserotonin, the penultimate step in the synthesis of melatonin
    Catalytic activity: Acetyl-CoA + a 2-arylethylamine = CoA + an N-acetyl-2-arylethylamine
    Biophysicochemical properties: Kinetic parameters: KM=0.13 mM for tryptamine; KM=2.6 mM for 5-hydroxytryptamine;
    KM=0.55 mM for phenylethylamine; KM=10.6 mM for tyramine;

         Genatlas biochemistry entry for AANAT:
    arylalkylamine N-acetyltransferase,23kDa,expressed in the pineal gland,penultimate step in melatonin
    synthesis,controlling the circadian rythm of production of melatonin,rhythmic activity controlled by ICER,an
    early response repressor

         Enzyme Number (IUBMB): EC 2.3.1.871 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004059aralkylamine N-acetyltransferase activity NAS8661026
    GO:0004060arylamine N-acetyltransferase activity ----
    GO:0008080N-acetyltransferase activity ----
    GO:007188914-3-3 protein binding ----
         
    AANAT for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Aanat):
     endocrine/exocrine gland  nervous system 

    AANAT for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AANAT
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AANAT
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AANAT

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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): AANAT (NM_001088)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AANAT

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AANAT


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SNAT_HUMAN, Q16613: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    cytoskeleton1
    extracellular1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0048471perinuclear region of cytoplasm IDA11313340

    AANAT for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for AANAT About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Tryptophan metabolism
    Tryptophan metabolism0.46
    Tryptophan metabolism0.46
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3serotonin and melatonin biosynthesis
    serotonin and melatonin biosynthesis
    Serotonin and melatonin biosynthesis0.00
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Amine-derived hormones0.00
    5tryptophan utilization II
    tryptophan utilization I0.71

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for AANAT
        Biogenic Amine Synthesis
    serotonin and melatonin biosynthesis
    Tryptophan metabolism
    tryptophan utilization I

    1 Reactome Pathway for AANAT
        Serotonin and melatonin biosynthesis


    2 Kegg Pathways  (Kegg details for AANAT):
        Tryptophan metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: SNAT_HUMAN, Q16613
    Pathway: Aromatic compound metabolism; melatonin biosynthesis; melatonin from serotonin: step 1/2


    AANAT for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AANAT: 

              Circadian Rhythms in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for AANAT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AANAT (Q166132, 3 ENSP000002506154) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3, ENSP000003095034MINT-8006859 MINT-8006866 I2D: score=5 STRING: ENSP00000309503
    PRKACAP176123, ENSP000003095914I2D: score=2 STRING: ENSP00000309591
    F2P007343, ENSP000003085414I2D: score=1 STRING: ENSP00000308541
    YWHAGENSP000003063304STRING: ENSP00000306330
    ASMTENSP000003706394STRING: ENSP00000370639
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006474N-terminal protein amino acid acetylation IDA11313340
    GO:0007623circadian rhythm NAS8661026
    GO:0009416response to light stimulus ----
    GO:0010043response to zinc ion ----
    GO:0014070response to organic cyclic compound ----

    AANAT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for AANAT available from Tocris Bioscience    About this table
    CompoundAction CAS #
    YM 750Acyl-CoA:cholesterol acyltransferase (ACAT) inhibitor[138046-43-2]
    VULM 1457Acyl-CoA: cholesterol acyltransferase (ACAT) inhibitor[228544-65-8]
    N1,N11-Diethylnorspermine tetrahydrochloride Spermine and spermidine acetyltransferase potentiator[121749-39-1]
    (R)-(+)-Etomoxir sodium saltCarnitine palmitoyltransferase I (CPT1) inhibitor[828934-41-4]
    A 922500Diacylglycerol acyltransferase 1 (DGAT-1) inhibitor[959122-11-3]

    7 HMDB Compounds for AANAT    About this table
    CompoundSynonyms CAS #PubMed Ids
    5-Methoxytryptamine2-(5-Methoxy-1H-indol-3-yl)ethanamine (see all 10)608-07-1--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    N-Acetylserotonin5-Hydroxy-N-acetyltryptamine (see all 5)1210-83-9--
    Phenylethylamineb-aminoethylbenzene (see all 41)64-04-0--
    Serotonin3-(2-Aminoethyl)-1H-indol-5-ol (see all 14)50-67-9--
    Tryptamine(3-Indolyl)ethylamine (see all 13)61-54-1--

    3 DrugBank Compounds for AANAT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Coa-S-Acetyl 5-Bromotryptamine-- --target--17139284 17016423 10592235
    Coa-S-Acetyl Tryptamine-- --target--17139284 17016423 10592235
    Coa-S-Trimethylene-Acetyl-Tryptamine-- --target--17139284 17016423 10592235

    Selected Novoseek inferred chemical compound relationships for AANAT gene (see all 45)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arylalkylamine 98.5 194 17164235 (5), 15644438 (3), 7681102 (2), 11313340 (2) (see all 84)
    melatonin 92 344 12364461 (5), 18569588 (5), 12195298 (4), 19538336 (4) (see all 99)
    n-acetyltryptamine 88.3 3 9804794 (1), 2327568 (1)
    n-acetylserotonin 87.5 19 10024876 (1), 10722724 (1), 1977416 (1), 9804794 (1) (see all 9)
    hydroxyindole 81.6 1 18312298 (1)
    tryptamine 74.3 3 9804794 (1), 8520468 (1)
    arylamine 68.6 9 8382984 (2), 8520468 (2), 11393533 (1)
    acetyl-coa 65.1 16 7712152 (2), 9196290 (1), 10024876 (1), 10722724 (1) (see all 8)
    cyclic amp 62.8 28 10820191 (4), 7543927 (2), 11506377 (2), 7580870 (2) (see all 13)
    quinpirole 62.5 8 9181516 (2), 9029407 (2), 7909927 (1), 12658371 (1)



    AANAT for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AANAT gene (2 alternative transcripts): 
    NM_001088.2  NM_001166579.1  

    Unigene Cluster for AANAT:

    Aralkylamine N-acetyltransferase
    Hs.431417  [show with all ESTs]
    Unigene Representative Sequence: BC092430
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000250615(uc021udg.1) ENST00000392492(uc002jro.3 uc010wte.2)
    ENST00000587798 ENST00000585649
    miRNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): AANAT (NM_001088)
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      QuantiFast Probe-based Assays in human, mouse, rat AANAT

    Additional mRNA sequence: 

    AB593119.1 AY055827.1 BC069434.1 BC092430.1 BC126332.1 BC126334.1 BC143989.1 U40347.1 

    3 DOTS entries:

    DT.208592  DT.100670397  DT.99981904 

    16 AceView cDNA sequences:

    BX281912 NM_001088 BC069434 U40347 BQ637944 AY055827 AI819939 BU845764 
    BU931661 AA084486 AA365330 AA364412 AA722177 BM711585 AW951264 AA757429 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AANAT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGACAGCAG
    AANAT Expression
    About this image

    AANAT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AANAT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.431417

    UniProtKB/Swiss-Prot: SNAT_HUMAN, Q16613
    Tissue specificity: Highly expressed in pineal gland and at lower levels in the retina. Weak expression in several
    brain regions and in the pituitary gland

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AANAT: 
              Circadian Rhythms in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for AANAT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AANAT
    QuantiTect SYBR Green Assays in human, mouse, rat AANAT
    QuantiFast Probe-based Assays in human, mouse, rat AANAT
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AANAT

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for AANAT gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aanat1 , 5 arylalkylamine N-acetyltransferase1, 5 84.56(n)1
    84.73(a)1
      11 (81.43 cM)5
    112981  NM_009591.31  NP_033721.11 
     1165864325 
    chicken
    (Gallus gallus)
    Aves AANAT1 aralkylamine N-acetyltransferase 75.33(n)
    70.5(a)
      396066  NM_205158.1  NP_990489.1 
    lizard
    (Anolis carolinensis)
    Reptilia AANAT6
    aralkylamine N-acetyltransferase
    68(a)
    1 ↔ 1
    2(112173017-112182041)
    African clawed frog
    (Xenopus laevis)
    Amphibia AY316297.12   -- 75.28(n)    AY316297.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc730742 hypothetical protein MGC73074 73.86(n)   393677  BC059448.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AANAT (see all 440)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289366791,2,,4
    CDelayed sleep phase syndrome (DSPS)4 other175551738(+) ACCGCA/GCCTTC 4 T A mis1 ese30--------
    rs721867531,2
    C--69880323(+) TCAGG-/AA/AAA
            
    AAAAA
    2 -- int1 cds10--------
    rs349057591,2
    C--69880427(+) AGGGTG/-GGTTG 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1907946201,2
    --69892890(+) AGCGTA/GAAGGT 4 K E mis10--------
    rs1999805741,2
    --69892911(+) GCACAA/GGGTCA 2 -- int10--------
    rs1457334171,2
    --69892960(+) GGAGAA/CCCTTA 2 -- int10--------
    rs1489948541,2
    C--69892970(+) AGTCTC/TCTGTC 2 -- int10--------
    rs1132630381,2
    C--69893001(+) GTATCA/GGACCA 2 -- int10--------
    rs2018937441,2
    C--69893112(+) GACGCA/GAGGCA 2 -- int10--------
    rs2014345631,2
    C--69893121(+) CACAGA/C/TGACTA 2 -- int10--------

    HapMap Linkage Disequilibrium report for AANAT (74449433 - 74466199 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for AANAT:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833549CNV Gain17160897

    Human Gene Mutation Database (HGMD): AANAT
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AANAT
    DNA2.0 Custom Variant and Variant Library Synthesis for AANAT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600950   
    OMIM disorders: 614163  
    UniProtKB/Swiss-Prot: SNAT_HUMAN, Q16613
  • Delayed sleep phase syndrome (DSPS) [MIM:614163]: A circadian rhythm sleep disorder characterized by
    sleep-onset insomnia and difficulty in awakening at the desired time. Patients with DSPS have chronic difficulty
    in adjusting their sleep-onset and wake-up times to occupational, school, and social activities. Note=Disease
    susceptibility may be associated with variations affecting the gene represented in this entry. Susceptibility to
    delayed sleep phase syndrome can be conferred by variant Thr-129. Thr-129 shows a significantly higher frequency
    in affected individuals than in healthy controls

  • 18 diseases for AANAT:    
    About MalaCards
    delayed sleep phase syndrome    pineocytoma    bipolar i disorder    sleep disorder
    schizoaffective disorder    retinoblastoma    autism spectrum disorder    cholera
    cholangiocarcinoma    asthma    retinitis    schizophrenia
    prostate cancer    prostatitis    multiple myeloma    adenocarcinoma
    myeloma    breast cancer


    AANAT for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for AANAT gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinosarcoma 31.2 1 10721063 (1)
    retinoblastoma 22.5 5 10496148 (2), 8661026 (1), 8382984 (1)
    chemically induced 17 1 10721063 (1)
    mammary tumor 8.42 1 10721063 (1)
    tumors 0.956 3 9600600 (1), 9949305 (1), 10721063 (1)
    adenocarcinoma 0 1 10721063 (1)

    Genetic Association Database (GAD): AANAT
    Human Genome Epidemiology (HuGE) Navigator: AANAT (14 documents)

    Export disorders for AANAT 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)
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    PubMed articles for AANAT gene, integrated from 10 sources (see all 173):
    (articles sorted by number of sources associating them with AANAT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human serotonin N-acetyltransferase (EC 2.3.1.87) gene (AANAT): structure, chromosomal localization, and tissue expression. (PubMed id 8661026)1, 2, 3, 9 Coon S.L....Rodriguez I.R. (Genomics 1996)
    2. Significant association of the arylalkylamine N-acetyltransferase (AA-NAT) gene with delayed sleep phase syndrome. (PubMed id 12736803)1, 2, 4, 9 Hohjoh H....Tokunaga K. (Neurogenetics 2003)
    3. cAMP regulation of arylalkylamine N-acetyltransferase (AANAT, EC 2.3.1.87): a new cell line (1E7) provides evidence of intracellular AANAT activation. (PubMed id 11313340)1, 2, 9 Coon S.L....Klein D.C. (J. Biol. Chem. 2001)
    4. Arylalkylamine N-acetyltransferase (AANAT) genotype as a personal trait in melatonin synthesis. (PubMed id 18569588)1, 4, 9 Blomeke B....Roemer H.C. (J. Toxicol. Environ. Health Part A 2008)
    5. Association study of tryptophan hydroxylase 1 and arylalkylamine N-acetyltransferase polymorphisms with adolescent idiopathic scoliosis in Han Chinese. (PubMed id 18794762)1, 4, 9 Wang H....Qiu G. (Spine 2008)
    6. Genetic variability of arylalkylamine-N-acetyl-transferase (AA-NAT) gene and human sleep/wake pattern. (PubMed id 15332344)1, 4, 9 Wang G.Y....Lee E.J. (Chronobiol. Int. 2004)
    7. Role of a pineal cAMP-operated arylalkylamine N-acetyltransferase/14- 3-3-binding switch in melatonin synthesis. (PubMed id 11427721)1, 2, 9 Ganguly S.... Klein D.C. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    8. Identification of single-nucleotide polymorphisms (SNPs) of human N-acetyltransferase genes NAT1, NAT2, AANAT, ARD1 and L1CAM in the Japanese population. (PubMed id 11393533)1, 4, 9 Sekine A....Nakamura Y. (J. Hum. Genet. 2001)
    9. A naturally occurring -263G/C variant of the human AA-NAT gene and overnight melatonin production. (PubMed id 14728993)1, 4, 9 Ying G.W....Lee E.J. (Mol. Genet. Metab. 2004)
    10. Resequencing and association analysis of arylalkylamine N-acetyltransferase (AANAT) gene and its contribution to major depression susceptibility. (PubMed id 20459461)1, 4 Soria V....Urretavizcaya M. (J. Pineal Res. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 15 HGNC: 19 AceView: AANAT Ensembl:ENSG00000129673 euGenes: HUgn15
    ECgene: AANAT Kegg: 15 H-InvDB: AANAT

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AANAT Pharmacogenomics, SNPs, Pathways
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=AANAT

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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