P61599 · NAA20_HUMAN
- ProteinN-alpha-acetyltransferase 20
- GeneNAA20
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids178 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp, Met-Glu, Met-Asn and Met-Gln (PubMed:34230638).
Proteins with cell cycle functions are overrepresented in the pool of NatB substrates. Required for maintaining the structure and function of actomyosin fibers and for proper cellular migration
Proteins with cell cycle functions are overrepresented in the pool of NatB substrates. Required for maintaining the structure and function of actomyosin fibers and for proper cellular migration
Catalytic activity
- acetyl-CoA + N-terminal L-methionyl-L-asparaginyl-[protein] = CoA + H+ + N-terminal N(alpha)-acetyl-L-methionyl-L-asparaginyl-[protein]
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | cytoplasm | |
Cellular Component | cytosol | |
Cellular Component | NatB complex | |
Cellular Component | nucleus | |
Molecular Function | peptide alpha-N-acetyltransferase activity | |
Biological Process | N-terminal peptidyl-aspartic acid acetylation | |
Biological Process | N-terminal peptidyl-glutamic acid acetylation | |
Biological Process | N-terminal peptidyl-glutamine acetylation | |
Biological Process | N-terminal protein amino acid acetylation |
Keywords
- Molecular function
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameN-alpha-acetyltransferase 20
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP61599
- Secondary accessions
Proteomes
Organism-specific databases
Disease & Variants
Involvement in disease
Intellectual developmental disorder, autosomal recessive 73 (MRT73)
- Note
- DescriptionA form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT73 patients manifest global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features.
- See alsoMIM:619717
Natural variants in MRT73
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_088425 | 4 | L>P | in MRT73; decreases interaction with NAA25; may reduce protein capacity to acetylate Met-Glu N-terminal peptides; does not affect protein stability; dbSNP:rs752372862 | |
VAR_088426 | 34-178 | missing | in MRT73; dbSNP:rs755734957 | |
VAR_086809 | 54 | M>V | in MRT73; decreased complex formation with NAA25 and decreased N-acetylation catalytic activity in vitro for all 4 types of substrates; does not affect protein stability; dbSNP:rs2146464332 | |
VAR_086810 | 80 | A>V | in MRT73; strong decrease in N-acetylation catalytic activity in vitro for substrates Met-Glu, Met-Asn and Met-Gln, but not Met-Asp; does not affect protein stability; dbSNP:rs768029717 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_088425 | 4 | in MRT73; decreases interaction with NAA25; may reduce protein capacity to acetylate Met-Glu N-terminal peptides; does not affect protein stability; dbSNP:rs752372862 | |||
Sequence: L → P | ||||||
Natural variant | VAR_088426 | 34-178 | in MRT73; dbSNP:rs755734957 | |||
Sequence: Missing | ||||||
Natural variant | VAR_086809 | 54 | in MRT73; decreased complex formation with NAA25 and decreased N-acetylation catalytic activity in vitro for all 4 types of substrates; does not affect protein stability; dbSNP:rs2146464332 | |||
Sequence: M → V | ||||||
Natural variant | VAR_086810 | 80 | in MRT73; strong decrease in N-acetylation catalytic activity in vitro for substrates Met-Glu, Met-Asn and Met-Gln, but not Met-Asp; does not affect protein stability; dbSNP:rs768029717 | |||
Sequence: A → V |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 171 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000074534 | 1-178 | N-alpha-acetyltransferase 20 | |||
Sequence: MTTLRAFTCDDLFRFNNINLDPLTETYGIPFYLQYLAHWPEYFIVAEAPGGELMGYIMGKAEGSVAREEWHGHVTALSVAPEFRRLGLAAKLMELLEEISERKGGFFVDLFVRVSNQVAVNMYKQLGYSVYRTVIEYYSASNGEPDEDAYDMRKALSRDTEKKSIIPLPHPVRPEDIE |
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Component of the N-terminal acetyltransferase B (NatB) complex which is composed of NAA20 and NAA25.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P61599 | NAA25 Q14CX7 | 2 | EBI-1055023, EBI-1048503 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 2-157 | N-acetyltransferase | ||||
Sequence: TTLRAFTCDDLFRFNNINLDPLTETYGIPFYLQYLAHWPEYFIVAEAPGGELMGYIMGKAEGSVAREEWHGHVTALSVAPEFRRLGLAAKLMELLEEISERKGGFFVDLFVRVSNQVAVNMYKQLGYSVYRTVIEYYSASNGEPDEDAYDMRKALS |
Sequence similarities
Belongs to the acetyltransferase family. ARD1 subfamily.
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
P61599-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length178
- Mass (Da)20,368
- Last updated2004-05-24 v1
- ChecksumC5CCEA50CD60E097
P61599-2
- Name2
- Differences from canonical
- 103-178: KGGFFVDLFVRVSNQVAVNMYKQLGYSVYRTVIEYYSASNGEPDEDAYDMRKALSRDTEKKSIIPLPHPVRPEDIE → YEESTFQGY
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A8MZB2 | A8MZB2_HUMAN | NAA20 | 166 |
Sequence caution
Features
Showing features for sequence conflict, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 47 | in Ref. 2; CAB66576 | ||||
Sequence: E → V | ||||||
Alternative sequence | VSP_045644 | 103-178 | in isoform 2 | |||
Sequence: KGGFFVDLFVRVSNQVAVNMYKQLGYSVYRTVIEYYSASNGEPDEDAYDMRKALSRDTEKKSIIPLPHPVRPEDIE → YEESTFQGY |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF085355 EMBL· GenBank· DDBJ | AAD40190.1 EMBL· GenBank· DDBJ | mRNA | ||
AL136641 EMBL· GenBank· DDBJ | CAB66576.1 EMBL· GenBank· DDBJ | mRNA | ||
AK311819 EMBL· GenBank· DDBJ | BAG34761.1 EMBL· GenBank· DDBJ | mRNA | ||
AL049538 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL035454 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471133 EMBL· GenBank· DDBJ | EAX10214.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471133 EMBL· GenBank· DDBJ | EAX10215.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC005181 EMBL· GenBank· DDBJ | AAH05181.1 EMBL· GenBank· DDBJ | mRNA | ||
BC008446 EMBL· GenBank· DDBJ | AAH08446.1 EMBL· GenBank· DDBJ | mRNA | ||
BG548527 EMBL· GenBank· DDBJ | - | mRNA | No translation available. |