• Gene id: 339983

Gene Summary

• Gene Symbol: NAT8L   Gene   UCSC   Ensembl
• Aliases: CML3, NACED, NAT8-LIKE
• Gene name: N-acetyltransferase 8 like
• Alternate names: N-acetylaspartate synthetase, N-acetyltransferase 8-like (GCN5-related, putative), NAA synthetase, Shati, camello-like protein 3,
• Gene location: 4p16.3 (2059326: 2069088)     Exons: 3     NC_000004.12
• Gene summary(Entrez): This gene encodes a single-pass membrane protein, which contains a conserved sequence of the GCN5 or NAT superfamily of N-acetyltransferases and is a member of the N-acyltransferase (NAT) superfamily. This protein is a neuron-specific protein and is the N
• OMIM: 610647

Protein Summary

• Protein general information: Q8N9F0  
  • Name: N acetylaspartate synthetase (NAA synthetase) (EC 2.3.1.17) (Camello like protein 3) (N acetyltransferase 8 like protein)
  • Length: 302  
  • Mass: 32837
  • Tissue specificity: Expressed in brain. {ECO
• Sequence:

  MHCGPPDMVCETKIVAAEDHEALPGAKKDALLAAAGAMWPPLPAAPGPAAAPPAPPPAPVAQPHGGAGGAGPPGG
  RGVCIREFRAAEQEAARRIFYDGIMERIPNTAFRGLRQHPRAQLLYALLAALCFAVSRSLLLTCLVPAALLGLRY
  YYSRKVIRAYLECALHTDMADIEQYYMKPPGSCFWVAVLDGNVVGIVAARAHEEDNTVELLRMSVDSRFRGKGIA
  KALGRKVLEFAVVHNYSAVVLGTTAVKVAAHKLYESLGFRHMGASDHYVLPGMTLSLAERLFFQVRYHRYRLQLR
  EE

• Structural information:
  • Protein Domains: (143..28-)
    (/note="N-acetyltransferase-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00532"-)
  • Interpro: IPR016181  IPR000182  
  • Prosite: PS51186
  • STRING: ENSP00000413064
• Other Databases: GeneCards:  NAT8L  Malacards:  NAT8L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017188	aspartate N-acetyltransferase activity	IBA	molecular function
GO:0008080	N-acetyltransferase activity	IBA	molecular function
GO:0031966	mitochondrial membrane	IBA	cellular component
GO:0017188	aspartate N-acetyltransferase activity	IDA	molecular function
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0008080	N-acetyltransferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0017188	aspartate N-acetyltransferase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0008652	cellular amino acid biosynthetic process	TAS	biological process
GO:0017188	aspartate N-acetyltransferase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0017188	aspartate N-acetyltransferase activity	IEA	molecular function
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0030867	rough endoplasmic reticulum membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00250	Alanine, aspartate and glutamate metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray