NAA80

Protein identityUniProt · HPA

UniProt accession

Q93015

Gene

NAA80

Ensembl

ENSG00000243477

Chromosome

3

Canonical length

286 aa

Protein class

Metabolic proteins, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a member of the N-acetyltransferase family. N-acetyltransferases modify proteins by transferring acetyl groups from acetyl CoA to the N-termini of protein substrates. The encoded protein is a cytoplasmic N-acetyltransferase with a substrate specificity for proteins with an N-terminal methionine. This gene is located in the tumor suppressor gene region on chromosome 3p21.3 and the encoded protein may play a role in cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed. This gene overlaps and is on the same strand as hyaluronoglucosaminidase 3, and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]

Canonical amino-acid sequenceUniProt

286 residues, UniProt reviewed canonical sequence.

>Q93015|NAA80
     1  MELILSTSPA ELTLDPACQP KLPLDSTCQP EMTFNPGPTE LTLDPEHQPE ETPAPSLAEL
    61  TLEPVHRRPE LLDACADLIN DQWPRSRTSR LHSLGQSSDA FPLCLMLLSP HPTLEAAPVV
   121  VGHARLSRVL NQPQSLLVET VVVARALRGR GFGRRLMEGL EVFARARGFR KLHLTTHDQV
   181  HFYTHLGYQL GEPVQGLVFT SRRLPATLLN AFPTAPSPRP PRKAPNLTAQ AAPRGPKGPP
   241  LPPPPPLPEC LTISPPVPSG PPSKSLLETQ YQNVRGRPIF WMEKDI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NAA80 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.45

Highest tissue expression

59 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NAA80.

Disease | AllUniProt

Conditions NAA80 is implicated in, by any mechanism.

• Auroneurodental syndrome (ANDS) MIM:620830

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 69 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• See cases
• Auroneurodental syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1

gnomAD pLI

0.17

DepMap mean gene effect

-0.01

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• actin modification
• N-terminal peptidyl-aspartic acid acetylation
• N-terminal peptidyl-glutamic acid acetylation
• protein acetylation
• regulation of actin polymerization or depolymerization

Molecular functions

• acetyl-CoA binding
• N-acetyltransferase activity
• protein-N-terminal amino-acid acetyltransferase activity

Cellular components

• cytoplasm
• cytosol

Protein domainsUniProt · Pfam · InterPro

• GNAT domain
• Acyl-CoA N-acyltransferase
• Acetyltransferase (GNAT) family
• N-alpha-acetyltransferase 80

KeywordsUniProt

• Acyltransferase
• Cytoplasm
• Deafness
• Transferase
• Tumor suppressor