Gene: Nat1

Basic information

Tag Content
Uniprot ID A0A1D5RLG2
Entrez ID
Genbank protein ID
Genbank nucleotide ID
Ensembl protein ID ENSMUSP00000148354
Ensembl nucleotide ID ENSMUSG00000025588
Gene name Arylamine N-acetyltransferase 1
Gene symbol Nat1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MGTMDIEAYF ERIGYKNSVN KLDLATLTEV LQHQMRAVPF ENLNMHCGEA MHLDLQDIFD 60
HIVRKKRGGW CLQVNHLLYW ALTKMGFETT MLGGYVYITP VSKYSSEMVH LLVQVTISDR 120
KYIVDSAYGG SYQMWEPLEL TSGKDQPQVP AIFLLTEENG TWYLDQIRRE QYVPNEEFVN 180
SDLLEKNKYR KIYSFTLEPR VIEDFEYVNS YLQTSPASVF VSTSFCSLQT SEGVHCLVGS 240
TFTSRRFSYK DDVDLVEFKY VNEEEIEDVL KTAFGISLER KFVPKHGELV FTI 293

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

There is no related protein structure for this gene.

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
NAT1c.1088T>AGenotyping15127906
NAT1c.1095C>AGenotyping15127906
NAT1rs4921580C>GGenotyping23660777

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence

GO:Biological Process

GO ID GO Term Evidence

GO:Cellular Component

GO ID GO Term Evidence

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0012 Acyltransferase
KW-1267 Proteomics identification
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