SIAE
Sialate O-acetylesterase
Also known as: CSE-C, LSE, MGC87009, SIAE_HUMAN, YSG2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9HAT2
- Gene
- SIAE
- Ensembl
- ENSG00000110013
- Chromosome
- 11
- Canonical length
- 523 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011]
Canonical amino-acid sequenceUniProt
523 residues, UniProt reviewed canonical sequence.
>Q9HAT2|SIAE
1 MVAPGLVLGL VLPLILWADR SAGIGFRFAS YINNDMVLQK EPAGAVIWGF GTPGATVTVT
61 LRQGQETIMK KVTSVKAHSD TWMVVLDPMK PGGPFEVMAQ QTLEKINFTL RVHDVLFGDV
121 WLCSGQSNMQ MTVLQIFNAT RELSNTAAYQ SVRILSVSPI QAEQELEDLV AVDLQWSKPT
181 SENLGHGYFK YMSAVCWLFG RHLYDTLQYP IGLIASSWGG TPIEAWSSGR SLKACGVPKQ
241 GSIPYDSVTG PSKHSVLWNA MIHPLCNMTL KGVVWYQGES NINYNTDLYN CTFPALIEDW
301 RETFHRGSQG QTERFFPFGL VQLSSDLSKK SSDDGFPQIR WHQTADFGYV PNPKMPNTFM
361 AVAMDLCDRD SPFGSIHPRD KQTVAYRLHL GARALAYGEK NLTFEGPLPE KIELLAHKGL
421 LNLTYYQQIQ VQKKDNKIFE ISCCSDHRCK WLPASMNTVS TQSLTLAIDS CHGTVVALRY
481 AWTTWPCEYK QCPLYHPSSA LPAPPFIAFI TDQGPGHQSN VAKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SIAE 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)
- 0.24
- Highest tissue expression
- 98 nTPM
Expression across tissuesHPA
Tissue
- rectum: 98 nTPM
- colon: 92 nTPM
- choroid plexus: 61 nTPM
- kidney: 58 nTPM
- thyroid gland: 51 nTPM
- parathyroid gland: 43 nTPM
Single-cell type
- platelets: 109 nCPM
- colonocytes: 108 nCPM
- epicardial cells: 98 nCPM
- cardiomyocytes: 92 nCPM
- enteric transient amplifying cells: 69 nCPM
- enteric stem cells: 61 nCPM
Immune cell
- basophil: 7.5 nTPM
- non-classical monocyte: 3.7 nTPM
- classical monocyte: 2.9 nTPM
- intermediate monocyte: 2.1 nTPM
- myeloid DC: 1.9 nTPM
- total PBMC: 1.8 nTPM
Brain region
- choroid plexus: 72 nTPM
- hypothalamus: 46 nTPM
- cerebellum: 45 nTPM
- white matter: 43 nTPM
- medulla oblongata: 42 nTPM
- thalamus: 41 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SIAE.
Disease | AllUniProt
Conditions SIAE is implicated in, by any mechanism.
- Autoimmune disease 6 (AIS6) MIM:613551
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)
- 1.16
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.13
- DepMap mean gene effect
- 0.21
- 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
Molecular functions
- sialate 9-O-acetylesterase activity
- sialate O-acetylesterase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SGNH hydrolase superfamily
- Sialate O-acetylesterase domain
- Sialate O-acetylesterase
- Carbohydrate esterase, sialic acid-specific acetylesterase
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SIAE as an antibody target. Whether an autoantibody or antibody against SIAE could matter depends on whether native SIAE is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SIAE 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.
Source-annotated serology context
The source annotations explicitly mention antibody, autoantibody, autoantigen, or autoimmune context. This is biological context, not study-specific reactivity.
- Mutations in this gene are associated with susceptibility to autoimmune disease 6.
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