Q9HAT2 · SIAE_HUMAN
- ProteinSialate O-acetylesterase
- GeneSIAE
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids523 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Catalyzes the removal of O-acetyl ester groups from position 9 of the parent sialic acid, N-acetylneuraminic acid.
Catalytic activity
- H2O + N-acetyl-9-O-acetylneuraminate = acetate + H+ + N-acetylneuraminate
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | extracellular exosome | |
Cellular Component | extracellular space | |
Cellular Component | lysosome | |
Molecular Function | sialate 4-O-acetylesterase activity | |
Molecular Function | sialate 9-O-acetylesterase activity | |
Molecular Function | sialate O-acetylesterase activity | |
Biological Process | carbohydrate metabolic process | |
Biological Process | regulation of immune system process |
Keywords
- Molecular function
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameSialate O-acetylesterase
- 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 accessionQ9HAT2
- Secondary accessions
Proteomes
Organism-specific databases
Disease & Variants
Involvement in disease
Autoimmune disease 6 (AIS6)
- Note
- DescriptionIndividuals manifesting susceptibility to autoimmune disease type 6 can suffer from juvenile idiopathic arthritis, rheumatoid arthritis, multiple sclerosis, Sjogren syndrome, systemic lupus erythematosus, type 1 diabetes, ulcerative colitis, and Crohn disease.
- See alsoMIM:613551
Natural variants in AIS6
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_064444 | 196 | C>F | in AIS6; defective enzyme secretion and activity; dbSNP:rs143070599 | |
VAR_064445 | 212 | G>R | in AIS6; defective enzyme secretion and activity; dbSNP:rs149466359 | |
VAR_064446 | 230 | R>W | in AIS6; defective enzyme secretion and activity; dbSNP:rs200862001 | |
VAR_064447 | 266 | C>G | in AIS6; defective enzyme secretion and activity; dbSNP:rs746914032 | |
VAR_064448 | 309 | Q>P | in AIS6; defective enzyme secretion and activity; dbSNP:rs757586703 | |
VAR_064451 | 349 | Y>C | in AIS6; defective enzyme secretion and activity; dbSNP:rs749579541 | |
VAR_064452 | 393 | R>H | in AIS6; defective enzyme secretion and activity; dbSNP:rs552372846 | |
VAR_064454 | 404 | F>S | in AIS6; defective enzyme secretion and activity; dbSNP:rs201877149 | |
VAR_064458 | 479 | R>C | in AIS6; defective enzyme secretion and activity; dbSNP:rs376857712 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_064438 | 3 | rare variant found in a patient with Crohn disease; probably not involved in disease susceptibility; the mutant enzyme has normal activity and is normally secreted; dbSNP:rs144571829 | |||
Sequence: A → G | ||||||
Natural variant | VAR_064439 | 33 | rare variant found in a patient with rheumatoid arthritis; probably not involved in disease susceptibility; the mutant enzyme has normal activity and is normally secreted; dbSNP:rs762824510 | |||
Sequence: N → S | ||||||
Natural variant | VAR_064440 | 62 | the mutant enzyme has normal activity and is normally secreted; dbSNP:rs377634657 | |||
Sequence: R → H | ||||||
Natural variant | VAR_064441 | 64 | the mutant enzyme has normal activity and is normally secreted; dbSNP:rs76655561 | |||
Sequence: G → S | ||||||
Natural variant | VAR_051356 | 71 | in dbSNP:rs12282107 | |||
Sequence: K → R | ||||||
Natural variant | VAR_064442 | 89 | at homozygosity may predispose to autoimmunity; normal enzyme activity; dbSNP:rs78778622 | |||
Sequence: M → V | ||||||
Natural variant | VAR_064443 | 161 | the mutant enzyme has normal activity and is normally secreted; dbSNP:rs200739060 | |||
Sequence: Q → K | ||||||
Natural variant | VAR_064444 | 196 | in AIS6; defective enzyme secretion and activity; dbSNP:rs143070599 | |||
Sequence: C → F | ||||||
Natural variant | VAR_064445 | 212 | in AIS6; defective enzyme secretion and activity; dbSNP:rs149466359 | |||
Sequence: G → R | ||||||
Natural variant | VAR_064446 | 230 | in AIS6; defective enzyme secretion and activity; dbSNP:rs200862001 | |||
Sequence: R → W | ||||||
Natural variant | VAR_064447 | 266 | in AIS6; defective enzyme secretion and activity; dbSNP:rs746914032 | |||
Sequence: C → G | ||||||
Natural variant | VAR_064448 | 309 | in AIS6; defective enzyme secretion and activity; dbSNP:rs757586703 | |||
Sequence: Q → P | ||||||
Natural variant | VAR_064449 | 312 | may predispose to autoimmunity; defective enzyme secretion and activity; dbSNP:rs144510878 | |||
Sequence: T → M | ||||||
Natural variant | VAR_064450 | 314 | defective enzyme secretion and activity; dbSNP:rs147649509 | |||
Sequence: R → H | ||||||
Natural variant | VAR_064451 | 349 | in AIS6; defective enzyme secretion and activity; dbSNP:rs749579541 | |||
Sequence: Y → C | ||||||
Natural variant | VAR_064452 | 393 | in AIS6; defective enzyme secretion and activity; dbSNP:rs552372846 | |||
Sequence: R → H | ||||||
Natural variant | VAR_064453 | 400 | rare variant found in a patient with Crohn disease; probably not involved in disease susceptibility; the mutant protein has normal activity; dbSNP:rs766047951 | |||
Sequence: K → N | ||||||
Natural variant | VAR_064454 | 404 | in AIS6; defective enzyme secretion and activity; dbSNP:rs201877149 | |||
Sequence: F → S | ||||||
Natural variant | VAR_064455 | 447 | the mutant enzyme has normal activity and is normally secreted; dbSNP:rs147161431 | |||
Sequence: H → R | ||||||
Natural variant | VAR_064456 | 456 | the mutant enzyme has normal activity and is normally secreted; dbSNP:rs1942761601 | |||
Sequence: M → I | ||||||
Natural variant | VAR_064457 | 462 | the mutant enzyme has normal activity and is normally secreted; dbSNP:rs143668140 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_051357 | 467 | in dbSNP:rs7941523 | |||
Sequence: A → V | ||||||
Natural variant | VAR_064458 | 479 | in AIS6; defective enzyme secretion and activity; dbSNP:rs376857712 | |||
Sequence: R → C |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 589 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for signal, chain, glycosylation.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-23 | |||||
Sequence: MVAPGLVLGLVLPLILWADRSAG | ||||||
Chain | PRO_0000042241 | 24-523 | Sialate O-acetylesterase | |||
Sequence: IGFRFASYINNDMVLQKEPAGAVIWGFGTPGATVTVTLRQGQETIMKKVTSVKAHSDTWMVVLDPMKPGGPFEVMAQQTLEKINFTLRVHDVLFGDVWLCSGQSNMQMTVLQIFNATRELSNTAAYQSVRILSVSPIQAEQELEDLVAVDLQWSKPTSENLGHGYFKYMSAVCWLFGRHLYDTLQYPIGLIASSWGGTPIEAWSSGRSLKACGVPKQGSIPYDSVTGPSKHSVLWNAMIHPLCNMTLKGVVWYQGESNINYNTDLYNCTFPALIEDWRETFHRGSQGQTERFFPFGLVQLSSDLSKKSSDDGFPQIRWHQTADFGYVPNPKMPNTFMAVAMDLCDRDSPFGSIHPRDKQTVAYRLHLGARALAYGEKNLTFEGPLPEKIELLAHKGLLNLTYYQQIQVQKKDNKIFEISCCSDHRCKWLPASMNTVSTQSLTLAIDSCHGTVVALRYAWTTWPCEYKQCPLYHPSSALPAPPFIAFITDQGPGHQSNVAK | ||||||
Glycosylation | 107 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 138 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 267 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 290 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 401 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 422 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N |
Keywords
- PTM
Proteomic databases
PTM databases
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9HAT2 | FBXO2 Q9UK22 | 2 | EBI-2908303, EBI-4287196 |
Protein-protein interaction databases
Miscellaneous
Structure
Sequence & Isoform
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 2 isoforms produced by Alternative splicing.
Q9HAT2-1
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
- Length523
- Mass (Da)58,315
- Last updated2001-03-01 v1
- ChecksumB72CF69636DBFED8
Q9HAT2-2
- Name2
- Differences from canonical
- 1-35: Missing
Features
Showing features for alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_018993 | 1-35 | in isoform 2 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF300796 EMBL· GenBank· DDBJ | AAG15386.1 EMBL· GenBank· DDBJ | mRNA | ||
AF303378 EMBL· GenBank· DDBJ | AAG14897.1 EMBL· GenBank· DDBJ | mRNA | ||
AK056093 EMBL· GenBank· DDBJ | BAG51622.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471065 EMBL· GenBank· DDBJ | EAW67591.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC068450 EMBL· GenBank· DDBJ | AAH68450.1 EMBL· GenBank· DDBJ | mRNA | ||
AL137496 EMBL· GenBank· DDBJ | CAB70771.1 EMBL· GenBank· DDBJ | mRNA |