Gene: NAT2

Basic information

Tag Content
Uniprot ID P11245; O43637; O60654; O60655; Q13146; Q16697; Q2MLE4; Q2MLF5; Q2MLG8; Q2MLJ6; Q2MLK4; Q2MLK6; Q2MLN7; Q6LET4; Q86XS0; Q86XS1; Q96KY8; Q96T64; Q96T65; Q9H220;
Entrez ID 10
Genbank protein ID ABC26095.1; ABC26153.1; ABC26121.1; ABC26044.1; ABC26163.1; AAC14118.1; ABC26089.1; ABC26097.1; ABC26139.1; ABC26119.1; ABC26100.1; ABC26164.1; ABC26060.1; ABC26127.1; ABC26118.1; AAO73562.1; ABC26145.1; ABC26143.1; ABC26042.1; ABC26047.1; ABC26175.1; ABC26181.1; ABC26126.1; ABC26076.1; ABC26088.1; ABC26133.1; ABC26169.1; ABC26115.1; ABC26160.1; ABC26158.1; ABC26041.1; ABC26077.1; ABC26157.1; AAA64584.1; ABC26062.1; ABC26161.1; AAO73561.1; ABC26103.1; ABC26132.1; ABC26110.1; ABC26182.1; ABC26069.1; ABC26073.1; ABC26104.1; ABC26067.1; ABC26050.1; ABC26144.1; AAC14117.1; ABC26122.1; ABC26056.1; ABC26107.1; ABC26148.1; ABC26188.1; ABC26155.1; ABC26180.1; ABC26112.1; ABC26032.1; ABC26081.1; ABC26092.1; ABC26167.1; ABC26168.1; ABC26173.1; ABC26156.1; AAA98976.1; ABC26033.1; ABC26074.1; ABC26149.1; CAA32802.1; ABC26152.1; ABC26165.1; ABC26128.1; ABC26063.1; ABC26057.1; ABC26043.1; ABC26048.1; ABC26086.1; ABC26174.1; ABC26123.1; ABC26141.1; ABC26166.1; BAA01641.1; ABC26087.1; ABC26125.1; AAC03773.1; CAG28559.1; ABC26053.1; ABC26134.1; ABC26142.1; ABC26120.1; ABC26179.1; ABC26061.1; ABC26079.1; ABC26101.1; AAP81164.1; ABC26045.1; ABC26098.1; AAK51710.1; ABC26186.1; ABC26091.1; ABC26037.1; ABC26178.1; ABC26150.1; ABC26140.1; ABC26171.1; ABC26108.1; ABC26136.1; ABC26184.1; AAH67218.1; ABC26190.1; ABC26035.1; ABC26065.1; ABC26072.1; ABC26078.1; ABC26090.1; ABC26162.1; ABC26071.1; BAA01642.1; ABC26113.1; ABC26151.1; ABC26039.1; ABC26082.1; ABC26183.1; ABC26116.1; ABC26147.1; ABC26191.1; ABC26117.1; ABC26102.1; AAG34181.1; ABC26034.1; ABC26040.1; ABC26130.1; BAA14094.1; ABC26064.1; ABC26146.1; ABC26114.1; BAA01640.1; ABC26083.1; ABC26084.1; ABC26075.1; ABC26093.1; ABC26036.1; BAA14096.1; ABC26185.1; ABC26051.1; ABC26059.1; ABC26154.1; ABC26106.1; ABC26189.1; ABC26177.1; ABC26159.1; ABC26172.1; ABC26138.1; ABC26111.1; ABC26129.1; ABC26058.1; ABC26038.1; ABC26055.1; ABC26068.1; ABC26096.1; ABC26049.1; ABC26099.1; ABC26054.1; ABC26046.1; AAH15878.1; ABC26070.1; ABC26137.1; ABC26176.1; ABC26066.1; AAK51711.1; ABC26187.1; ABC26170.1; ABC26085.1; ABC26094.1; ABC26105.1; ABC26124.1; AAA64585.1; AAA59906.1; ABC26135.1; ABC26052.1; ABC26131.1; ABC26080.1; ABC26109.1;
Genbank nucleotide ID XM_017012938.1; NM_000015.2;
Ensembl protein ID ENSP00000286479
Ensembl nucleotide ID ENSG00000156006
Gene name Arylamine N-acetyltransferase 2
Gene symbol NAT2
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 17160896; 23660777;
Functional description Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Catalyzes the N- or O-acetylation of various arylamine and heterocyclic amine substrates and is able to bioactivate several known carcinogens.
Sequence
MDIEAYFERI GYKNSRNKLD LETLTDILEH QIRAVPFENL NMHCGQAMEL GLEAIFDHIV 60
RRNRGGWCLQ VNQLLYWALT TIGFQTTMLG GYFYIPPVNK YSTGMVHLLL QVTIDGRNYI 120
VDAGSGSSSQ MWQPLELISG KDQPQVPCIF CLTEERGIWY LDQIRREQYI TNKEFLNSHL 180
LPKKKHQKIY LFTLEPRTIE DFESMNTYLQ TSPTSSFITT SFCSLQTPEG VYCLVGFILT 240
YRKFNYKDNT DLVEFKTLTE EEVEEVLKNI FKISLGRNLV PKPGDGSLTI

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologNAT210P11245Homo sapiensPublicationMore>>
1:1 orthologNat1A0A1D5RLG2Mus musculusPredictionMore>>
1:1 orthologNAT2464024H2QVT5Pan troglodytesPredictionMore>>
1:1 orthologNat1116631P50297Rattus norvegicusPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
NAT2rs1041983C>TGenotyping23660777
NAT2rs1799930; c.590G>A Genotyping17160896

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0004060 arylamine N-acetyltransferase activityIBA
GO:0004060 arylamine N-acetyltransferase activityTAS
GO:0005515 protein bindingIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0006805 xenobiotic metabolic processTAS

GO:Cellular Component

GO ID GO Term Evidence
GO:0005829 cytosolTAS

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1430728 MetabolismTAS
R-HSA-156580 Phase II - Conjugation of compoundsTAS
R-HSA-156582 AcetylationTAS
R-HSA-211859 Biological oxidationsTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0012 Acyltransferase
KW-0963 Cytoplasm
KW-0903 Direct protein sequencing
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0808 Transferase

Interpro

InterPro ID InterPro Term
IPR001447 Arylamine_N-AcTrfase
IPR038765 Papain-like_cys_pep_sf

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF00797 Acetyltransf_2

Protein-protein interaction