NAGA
Alpha-N-acetylgalactosaminidase
Also known as: D22S674, NAGAB_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P17050
- Gene
- NAGA
- Ensembl
- ENSG00000198951
- Chromosome
- 22
- Canonical length
- 411 aa
- Protein class
- Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
- Secretome location
- Intracellular and membrane
- Quaternary structure
- Homodimer
OverviewNCBI Gene
NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
411 residues, UniProt reviewed canonical sequence.
>P17050|NAGA
1 MLLKTVLLLG HVAQVLMLDN GLLQTPPMGW LAWERFRCNI NCDEDPKNCI SEQLFMEMAD
61 RMAQDGWRDM GYTYLNIDDC WIGGRDASGR LMPDPKRFPH GIPFLADYVH SLGLKLGIYA
121 DMGNFTCMGY PGTTLDKVVQ DAQTFAEWKV DMLKLDGCFS TPEERAQGYP KMAAALNATG
181 RPIAFSCSWP AYEGGLPPRV NYSLLADICN LWRNYDDIQD SWWSVLSILN WFVEHQDILQ
241 PVAGPGHWND PDMLLIGNFG LSLEQSRAQM ALWTVLAAPL LMSTDLRTIS AQNMDILQNP
301 LMIKINQDPL GIQGRRIHKE KSLIEVYMRP LSNKASALVF FSCRTDMPYR YHSSLGQLNF
361 TGSVIYEAQD VYSGDIISGL RDETNFTVII NPSGVVMWYL YPIKNLEMSQ QLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NAGA 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)
- 0.23
- Highest tissue expression
- 40 nTPM
Expression across tissuesHPA
Tissue
- placenta: 40 nTPM
- parathyroid gland: 37 nTPM
- choroid plexus: 32 nTPM
- appendix: 31 nTPM
- liver: 30 nTPM
- smooth muscle: 26 nTPM
Single-cell type
- hofbauer cells: 117 nCPM
- extravillous trophoblasts: 91 nCPM
- syncytiotrophoblasts: 66 nCPM
- kupffer cells: 61 nCPM
- monocytes: 60 nCPM
- cytotrophoblasts: 54 nCPM
Immune cell
- non-classical monocyte: 259 nTPM
- intermediate monocyte: 249 nTPM
- classical monocyte: 203 nTPM
- myeloid DC: 195 nTPM
- total PBMC: 121 nTPM
- plasmacytoid DC: 120 nTPM
Brain region
- choroid plexus: 30 nTPM
- white matter: 25 nTPM
- medulla oblongata: 24 nTPM
- spinal cord: 21 nTPM
- thalamus: 20 nTPM
- hypothalamus: 19 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NAGA.
Disease | AllUniProt
Conditions NAGA is implicated in, by any mechanism.
- Schindler disease (SCHIND) MIM:609241
- Kanzaki disease (KANZD) MIM:609242
Disease | GeneticClinVar
42 pathogenic / likely-pathogenic of 442 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Alpha-N-acetylgalactosaminidase deficiency type 1
- Alpha-N-acetylgalactosaminidase deficiency type 2
- Alpha-N-acetylgalactosaminidase deficiency
- Alpha-N-acetylgalactosaminidase deficiency type 3
- Malignant tumor of esophagus
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)
- 1.3
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.17
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- selective
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
- carbohydrate catabolic process
- glycolipid catabolic process
- glycoside catabolic process
- oligosaccharide metabolic process
Molecular functions
- alpha-galactosidase activity
- protein homodimerization activity
- alpha-N-acetylgalactosaminidase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NAGA as an antibody target. Whether an autoantibody or antibody against NAGA could matter depends on whether native NAGA is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NAGA is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NAGA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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