• Gene id: 15

Gene Summary

• Gene Symbol: AANAT   Gene   UCSC   Ensembl
• Aliases: DSPS, SNAT
• Gene name: aralkylamine N-acetyltransferase
• Alternate names: serotonin N-acetyltransferase, arylalkylamine N-acetyltransferase, serotonin acetylase,
• Gene location: 17q25.1 (76453350: 76470796)     Exons: 8     NC_000017.11
• Gene summary(Entrez): 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 fun
• OMIM: 601026

SNPs

rs864309485

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.30846888A>C
NC_000008.10   g.30704404A>C
NG_053141.1   g.71125T>G
NM_001350162.2   c.3279T>G
NM_001350162.1   c.3279T>G
XM_006716369.4   c.3279T>G
XM_011544593.3   c.2970T>G
XM_011544590.3   c.3279T>G
XM_011544589.3   c.3279T>G
XM_011544591.3   c.3279T>

rs397515621

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.55439557G>A
NC_000015.10   g.55439557G>C
NC_000015.9   g.55731755G>A
NC_000015.9   g.55731755G>C
NG_021213.1   g.73678C>T
NG_021213.1   g.73678C>G
NM_130810.4   c.808C>T
NM_130810.4   c.808C>G
NM_130810.3   c.808C>T
NM_130810.3   c.808C>G
NM_001033559.2  

rs147088100

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.70853248G>A
NC_000023.10   g.70073098G>A
NG_012574.2   g.60470C>T
NG_012574.1   g.60470C>T
NM_031276.2   c.405C>T
NM_031276.3   c.405C>T
NM_001003811.1   c.450C>T
NM_001003811.2   c.450C>T
XM_011530994.1   c.405C>T
XM_017029649.1   c.405C>T|SEQ=[G/A]|GE

rs143246552

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.70853093T>C
NC_000023.10   g.70072943T>C
NG_012574.2   g.60625A>G
NG_012574.1   g.60625A>G
NM_031276.3   c.466A>G
NM_031276.2   c.466A>G
NM_001003811.2   c.511A>G
NM_001003811.1   c.511A>G
XM_011530994.1   c.466A>G
XM_017029649.1   c.466A>G
NP_112566.2  

rs140984555

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.70605421C>T
NC_000023.10   g.69825271C>T
NG_012574.2   g.308297G>A
NG_012574.1   g.308297G>A
NM_031276.2   c.2047G>A
NM_031276.3   c.2047G>A
NM_001003811.1   c.2092G>A
NM_001003811.2   c.2092G>A
XM_017029652.2   c.856G>A
XM_011530994.1   c.2047G>A
XM_01  

rs17115149

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.102837961G>A
NC_000010.11   g.102837961G>T
NC_000010.10   g.104597718G>A
NC_000010.10   g.104597718G>T
NG_007955.1   g.4573C>T
NG_007955.1   g.4573C>A
NG_055002.1   g.689G>A
NG_055002.1   g.689G>T|SEQ=[G/A/T]|GENE=CYP17A1

rs17088625

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.22790337T>C
NC_000008.10   g.22647850T>C|SEQ=[T/C]|GENE=PEBP4

rs13206743

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.52152310T>C
NC_000006.11   g.52017108T>C|SEQ=[T/C]|GENE=LINCMD1

rs13017562

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.28492063G>A
NC_000002.12   g.28492063G>C
NC_000002.11   g.28714930G>A
NC_000002.11   g.28714930G>C
NG_051297.1   g.8485G>A
NG_051297.1   g.8485G>C|SEQ=[G/A/C]|GENE=PLB1

rs12339229

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.28093234C>T
NC_000009.11   g.28093232C>T|SEQ=[C/T]|GENE=LINGO2

rs11568732

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.94761817T>C
NC_000010.11   g.94761817T>G
NC_000010.10   g.96521574T>C
NC_000010.10   g.96521574T>G
NG_008384.3   g.4137T>C
NG_008384.3   g.4137T>G
NG_055436.1   g.1177T>C
NG_055436.1   g.1177T>G|SEQ=[T/C/G]|GENE=CYP2C19

rs3819392

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.54660528G>A
NC_000004.11   g.55526694G>A
NG_007456.1   g.7534G>A|SEQ=[G/A]|GENE=KIT

rs2287498

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.7689242C>T
NC_000017.10   g.7592560C>T
NG_017013.2   g.3309G>A
NG_028245.1   g.8172C>T
NM_018081.2   c.450C>T
NM_001143991.2   c.450C>T
NM_001143991.1   c.450C>T
NM_001143992.2   c.450C>T
NM_001143992.1   c.450C>T
NM_001143990.1   c.450C>T
XR_001752551.  

rs1056836

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.38071060G>C
NC_000002.11   g.38298203C>G
NG_008386.2   g.10042C>G
NM_000104.3   c.1294C>G
NP_000095.2   p.Leu432Val|SEQ=[G/C]|GENE=CYP1B1

rs1042389

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.41018248T>C
NC_000019.9   g.41524153T>C
NG_007929.1   g.31950T>C
NM_000767.5   c.*1421T>C
NM_000767.4   c.*1421T>C|SEQ=[T/C]|GENE=CYP2B6

rs718772

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30108218A>C
NC_000022.11   g.30108218A>G
NC_000022.10   g.30504207A>C
NC_000022.10   g.30504207A>G|SEQ=[A/C/G]|GENE=HORMAD2

rs323347

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.30848708A>G
NC_000008.10   g.30706224A>G
NG_053141.1   g.69305T>C
NM_001350162.2   c.1459T>C
NM_001350162.1   c.1459T>C
NP_001337091.1   p.Cys487Arg|SEQ=[A/G]|GENE=TEX15

rs323346

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.30845915T>C
NC_000008.10   g.30703431T>C
NG_053141.1   g.72098A>G
NM_001350162.2   c.4252A>G
NM_001350162.1   c.4252A>G
NP_001337091.1   p.Ile1418Val|SEQ=[T/C]|GENE=TEX15

rs2472304

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.74751897G>A
NC_000015.9   g.75044238G>A
NG_008431.2   g.34356G>A
NG_061543.1   g.8053G>A|SEQ=[G/A]|GENE=CYP1A2

rs2855658

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.38069747T>C
NC_000002.11   g.38296890T>C
NG_008386.2   g.11355A>G
NM_000104.3   c.*975A>G|SEQ=[T/C]|GENE=CYP1B1
RMDN2   151393

rs700519

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.51215771G>A
NC_000015.9   g.51507968G>A
NG_007982.1   g.127828C>T
NM_000103.4   c.790C>T
NM_000103.3   c.790C>T
NM_031226.3   c.790C>T
NM_031226.2   c.790C>T
NM_001347255.2   c.790C>T
NM_001347255.1   c.790C>T
NM_001347256.2   c.790C>T
NM_001347256.1   c.

rs25487

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.43551574T>C
NC_000019.10   g.43551574T>G
NC_000019.9   g.44055726T>C
NC_000019.9   g.44055726T>G
NG_033799.1   g.29005A>G
NG_033799.1   g.29005A>C
NM_006297.3   c.1196A>G
NM_006297.3   c.1196A>C
NM_006297.2   c.1196A>G
NM_006297.2   c.1196A>C
NP_006288.  

rs5000770

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.80424141G>A
NC_000015.9   g.80716483G>A|SEQ=[G/A]|GENE=ARNT2

rs4919686

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.102832492A>C
NC_000010.10   g.104592249A>C
NG_007955.1   g.10042T>G|SEQ=[A/C]|GENE=CYP17A1
CYP17A1-AS1   102724307

rs4986894

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.94762608T>C
NC_000010.10   g.96522365T>C
NG_008384.3   g.4928T>C
NG_055436.1   g.1968T>C|SEQ=[T/C]|GENE=CYP2C19

rs1048943

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.74720644T>A
NC_000015.10   g.74720644T>C
NC_000015.10   g.74720644T>G
NC_000015.9   g.75012985T>A
NC_000015.9   g.75012985T>C
NC_000015.9   g.75012985T>G
NG_008431.2   g.3103T>A
NG_008431.2   g.3103T>C
NG_008431.2   g.3103T>G
NM_000499.4   c.1384A>T
NM_  

rs6525433

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.70853309T>C
NC_000023.10   g.70073159T>C
NG_012574.2   g.60409A>G
NG_012574.1   g.60409A>G
NM_031276.3   c.344A>G
NM_031276.2   c.344A>G
NM_001003811.2   c.389A>G
NM_001003811.1   c.389A>G
XM_011530994.1   c.344A>G
XM_017029649.1   c.344A>G
NP_112566.2  

rs4844247

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.70670451C>T
NC_000023.10   g.69890301C>T
NG_012574.2   g.243267G>A
NG_012574.1   g.243267G>A
NM_031276.3   c.1306G>A
NM_031276.2   c.1306G>A
NM_001003811.2   c.1351G>A
NM_001003811.1   c.1351G>A
XM_017029652.2   c.115G>A
XM_011530994.1   c.1306G>A
XM_01  

rs1042522

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.7676154G>A
NC_000017.11   g.7676154G>C
NC_000017.11   g.7676154G>T
NC_000017.10   g.7579472G>A
NC_000017.10   g.7579472G>C
NC_000017.10   g.7579472G>T
NG_017013.2   g.16397C>T
NG_017013.2   g.16397C>G
NG_017013.2   g.16397C>A
NM_000546.6   c.215C>T
NM_0  

rs4646903

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.74719300A>G
NC_000015.10   g.74719300A>T
NC_000015.9   g.75011641A>G
NC_000015.9   g.75011641A>T
NG_008431.2   g.1759A>G
NG_008431.2   g.1759A>T
NG_061374.1   g.11229T>C
NG_061374.1   g.11229T>A|SEQ=[A/G/T]|GENE=CYP1A1

rs1020397

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.80426396G>A
NC_000015.10   g.80426396G>C
NC_000015.10   g.80426396G>T
NC_000015.9   g.80718738G>A
NC_000015.9   g.80718738G>C
NC_000015.9   g.80718738G>T|SEQ=[G/A/C/T]|GENE=ARNT2

rs2736100

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.1286401C>A
NC_000005.9   g.1286516C>A
NG_009265.1   g.13647G>T
NG_055468.1   g.28C>A|SEQ=[C/A]|GENE=TERT

rs3134885

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.54701722A>C
NC_000004.11   g.55567888A>C
NG_007456.1   g.48728A>C|SEQ=[A/C]|GENE=KIT

rs2237012

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.54733832A>G
NC_000004.11   g.55599998A>G
NG_007456.1   g.80838A>G|SEQ=[A/G]|GENE=KIT

rs4646422

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.74722964C>G
NC_000015.10   g.74722964C>T
NC_000015.9   g.75015305C>G
NC_000015.9   g.75015305C>T
NG_008431.2   g.5423C>G
NG_008431.2   g.5423C>T
NM_000499.4   c.134G>C
NM_000499.4   c.134G>A
NM_000499.5   c.134G>C
NM_000499.5   c.134G>A
NM_000499.3   c.13

rs8135823

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30126470T>G
NC_000022.10   g.30522459T>G|SEQ=[T/G]|GENE=HORMAD2

rs11090601

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30171741A>C
NC_000022.10   g.30567730A>C|SEQ=[A/C]|GENE=HORMAD2

rs4823073

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30116269G>A
NC_000022.10   g.30512258G>A|SEQ=[G/A]|GENE=HORMAD2

rs9620953

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30150256C>T
NC_000022.10   g.30546245C>T|SEQ=[C/T]|GENE=HORMAD2

rs9625930

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30152633G>A
NC_000022.10   g.30548622G>A|SEQ=[G/A]|GENE=HORMAD2

rs975704

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30176747G>A
NC_000022.10   g.30572736G>A
NM_152510.3   c.*580G>A
NM_152510.4   c.*580G>A
NM_152510.2   c.*580G>A
XM_011529917.3   c.*580G>A
NM_001329457.1   c.*580G>A
NM_001329457.2   c.*580G>A
NM_001329458.1   c.*580G>A
NM_001329458.2   c.*580G>A|SEQ=[

rs553509

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.104013293T>C
NW_004070885.1   g.149709T>C
NG_016406.2   g.5396A>G
NM_001002916.4   c.368A>G
NC_000023.10   g.103267865C>T
NP_001002916.3   p.His123Arg|SEQ=[T/C]|GENE=H2BW1

rs7885967

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.104013669G>A
NW_004070885.1   g.150085G>A
NG_016406.2   g.5020C>T
NM_001002916.4   c.-9C>T
NC_000023.10   g.103268241G>A|SEQ=[G/A]|GENE=H2BW1

rs144944885

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000022.11   g.50776483del
NC_000022.10   g.51214911del
NW_004070876.1   g.11558del|SEQ=[G/-]|GENE=RABL2B
RPL23AP82   284942

rs323344

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.30845009A>C
NC_000008.10   g.30702525A>C
NG_053141.1   g.73004T>G
NM_001350162.2   c.5158T>G
NM_001350162.1   c.5158T>G
NP_001337091.1   p.Leu1720Val|SEQ=[A/C]|GENE=TEX15

rs323345

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.30845086T>C
NC_000008.10   g.30702602T>C
NG_053141.1   g.72927A>G
NM_001350162.2   c.5081A>G
NM_001350162.1   c.5081A>G
NP_001337091.1   p.Asn1694Ser|SEQ=[T/C]|GENE=TEX15

Protein Summary

• Protein general information: Q16613  
  • Name: Serotonin N acetyltransferase (Serotonin acetylase) (EC 2.3.1.87) (Aralkylamine N acetyltransferase) (AA NAT)
  • Length: 207  
  • Mass: 23344
  • 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. {ECO
• Sequence:

  MSTQSTHPLKPEAPRLPPGIPESPSCQRRHTLPASEFRCLTPEDAVSAFEIEREAFISVLGVCPLYLDEIRHFLT
  LCPELSLGWFEEGCLVAFIIGSLWDKERLMQESLTLHRSGGHIAHLHVLAVHRAFRQQGRGPILLWRYLHHLGSQ
  PAVRRAALMCEDALVPFYERFSFHAVGPCAITVGSLTFMELHCSLRGHPFLRRNSGC

• Structural information:
  • Protein Domains: (35..19-)
    (/note="N-acetyltransferase-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00532"-)
  • Interpro: IPR016181  IPR000182  
  • Prosite: PS51186
  • STRING: ENSP00000250615
• Other Databases: GeneCards:  AANAT  Malacards:  AANAT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004059	aralkylamine N-acetyltransferase activity	IBA	molecular function
GO:0030187	melatonin biosynthetic process	IBA	biological process
GO:0009416	response to light stimulus	IBA	biological process
GO:0007623	circadian rhythm	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0008080	N-acetyltransferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0030187	melatonin biosynthetic process	IEA	biological process
GO:0004059	aralkylamine N-acetyltransferase activity	IEA	molecular function
GO:0004059	aralkylamine N-acetyltransferase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0046219	indolalkylamine biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004059	aralkylamine N-acetyltransferase activity	IEA	molecular function
GO:0010043	response to zinc ion	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0032868	response to insulin	IEA	biological process
GO:0034097	response to cytokine	IEA	biological process
GO:0034695	response to prostaglandin E	IEA	biological process
GO:0051592	response to calcium ion	IEA	biological process
GO:0071889	14-3-3 protein binding	IEA	molecular function
GO:0004060	arylamine N-acetyltransferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0007623	circadian rhythm	IEA	biological process
GO:0009416	response to light stimulus	IEA	biological process
GO:0009648	photoperiodism	IEA	biological process
GO:0046688	response to copper ion	IEA	biological process
GO:0051412	response to corticosterone	IEA	biological process
GO:0051591	response to cAMP	IEA	biological process
GO:1901652	response to peptide	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0030187	melatonin biosynthetic process	IEA	biological process
GO:0071320	cellular response to cAMP	IDA	biological process
GO:0030187	melatonin biosynthetic process	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0006474	N-terminal protein amino acid acetylation	IDA	biological process
GO:0004059	aralkylamine N-acetyltransferase activity	IDA	molecular function
GO:0007623	circadian rhythm	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00380	Tryptophan metabolism

Diseases

Associated diseases	References
Delayed sleep phase syndrome	KEGG:H00689
Delayed sleep phase syndrome	KEGG:H00689
Advanced sleep phase syndrome	PMID:12736803
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq