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Protein

Sialate O-acetylesterase

Gene

SIAE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the removal of O-acetyl ester groups from position 9 of the parent sialic acid, N-acetylneuraminic acid.

Catalytic activityi

N-acetyl-O-acetylneuraminate + H2O = N-acetylneuraminate + acetate.

GO - Molecular functioni

  • sialate O-acetylesterase activity Source: UniProtKB

GO - Biological processi

  • carbohydrate metabolic process Source: UniProtKB
  • regulation of immune system process Source: UniProtKB

Keywordsi

Molecular functionHydrolase, Serine esterase

Names & Taxonomyi

Protein namesi
Recommended name:
Sialate O-acetylesterase (EC:3.1.1.53)
Alternative name(s):
H-Lse
Sialic acid-specific 9-O-acetylesterase
Gene namesi
Name:SIAE
Synonyms:YSG2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000110013.12
HGNCiHGNC:18187 SIAE
MIMi610079 gene
neXtProtiNX_Q9HAT2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome, Secreted

Pathology & Biotechi

Involvement in diseasei

Autoimmune disease 6 (AIS6)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease 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 also OMIM:613551
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064444196C → F in AIS6; defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs143070599Ensembl.1
Natural variantiVAR_064445212G → R in AIS6; defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs149466359EnsemblClinVar.1
Natural variantiVAR_064446230R → W in AIS6; defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs200862001Ensembl.1
Natural variantiVAR_064447266C → G in AIS6; defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs746914032Ensembl.1
Natural variantiVAR_064448309Q → P in AIS6; defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs757586703Ensembl.1
Natural variantiVAR_064451349Y → C in AIS6; defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs749579541Ensembl.1
Natural variantiVAR_064452393R → H in AIS6; defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs552372846Ensembl.1
Natural variantiVAR_064454404F → S in AIS6; defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs201877149EnsemblClinVar.1
Natural variantiVAR_064458479R → C in AIS6; defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs376857712Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi54414
MalaCardsiSIAE
MIMi613551 phenotype
OpenTargetsiENSG00000110013
PharmGKBiPA142670922

Polymorphism and mutation databases

BioMutaiSIAE
DMDMi74734243

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000004224124 – 523Sialate O-acetylesteraseAdd BLAST500

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi107N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi138N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi267N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi290N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi401N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi422N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9HAT2
MaxQBiQ9HAT2
PaxDbiQ9HAT2
PeptideAtlasiQ9HAT2
PRIDEiQ9HAT2
ProteomicsDBi81429
81430 [Q9HAT2-2]

PTM databases

iPTMnetiQ9HAT2
PhosphoSitePlusiQ9HAT2

Expressioni

Tissue specificityi

Widely expressed with high expression in the testis, prostate, and colon.1 Publication

Gene expression databases

BgeeiENSG00000110013
CleanExiHS_SIAE
GenevisibleiQ9HAT2 HS

Organism-specific databases

HPAiHPA038052
HPA038053

Interactioni

Protein-protein interaction databases

BioGridi119945, 59 interactors
IntActiQ9HAT2, 1 interactor
STRINGi9606.ENSP00000263593

Structurei

3D structure databases

ProteinModelPortaliQ9HAT2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IGS1 Eukaryota
ENOG410XQ2Q LUCA
GeneTreeiENSGT00390000010608
HOGENOMiHOG000065687
HOVERGENiHBG007955
InParanoidiQ9HAT2
KOiK05970
OMAiVHDVLFG
OrthoDBiEOG091G04JT
PhylomeDBiQ9HAT2
TreeFamiTF328611

Family and domain databases

Gene3Di3.40.50.1110, 1 hit
InterProiView protein in InterPro
IPR005181 SASA
IPR036514 SGNH_hydro_sf
PfamiView protein in Pfam
PF03629 SASA, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9HAT2-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MVAPGLVLGL VLPLILWADR SAGIGFRFAS YINNDMVLQK EPAGAVIWGF
60 70 80 90 100
GTPGATVTVT LRQGQETIMK KVTSVKAHSD TWMVVLDPMK PGGPFEVMAQ
110 120 130 140 150
QTLEKINFTL RVHDVLFGDV WLCSGQSNMQ MTVLQIFNAT RELSNTAAYQ
160 170 180 190 200
SVRILSVSPI QAEQELEDLV AVDLQWSKPT SENLGHGYFK YMSAVCWLFG
210 220 230 240 250
RHLYDTLQYP IGLIASSWGG TPIEAWSSGR SLKACGVPKQ GSIPYDSVTG
260 270 280 290 300
PSKHSVLWNA MIHPLCNMTL KGVVWYQGES NINYNTDLYN CTFPALIEDW
310 320 330 340 350
RETFHRGSQG QTERFFPFGL VQLSSDLSKK SSDDGFPQIR WHQTADFGYV
360 370 380 390 400
PNPKMPNTFM AVAMDLCDRD SPFGSIHPRD KQTVAYRLHL GARALAYGEK
410 420 430 440 450
NLTFEGPLPE KIELLAHKGL LNLTYYQQIQ VQKKDNKIFE ISCCSDHRCK
460 470 480 490 500
WLPASMNTVS TQSLTLAIDS CHGTVVALRY AWTTWPCEYK QCPLYHPSSA
510 520
LPAPPFIAFI TDQGPGHQSN VAK
Length:523
Mass (Da):58,315
Last modified:March 1, 2001 - v1
Checksum:iB72CF69636DBFED8
GO
Isoform 2 (identifier: Q9HAT2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: Missing.

Note: No experimental confirmation available.
Show »
Length:488
Mass (Da):54,572
Checksum:iDBB030C82DA44916
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0644383A → G 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. 1 PublicationCorresponds to variant dbSNP:rs144571829Ensembl.1
Natural variantiVAR_06443933N → S 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. 1 PublicationCorresponds to variant dbSNP:rs762824510Ensembl.1
Natural variantiVAR_06444062R → H The mutant enzyme has normal activity and is normally secreted. 1 PublicationCorresponds to variant dbSNP:rs377634657Ensembl.1
Natural variantiVAR_06444164G → S The mutant enzyme has normal activity and is normally secreted. 1 PublicationCorresponds to variant dbSNP:rs76655561Ensembl.1
Natural variantiVAR_05135671K → R1 PublicationCorresponds to variant dbSNP:rs12282107Ensembl.1
Natural variantiVAR_06444289M → V Polymorphism that at homozygosity may predispose to autoimmunity; normal enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs78778622Ensembl.1
Natural variantiVAR_064443161Q → K The mutant enzyme has normal activity and is normally secreted. 1 PublicationCorresponds to variant dbSNP:rs200739060Ensembl.1
Natural variantiVAR_064444196C → F in AIS6; defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs143070599Ensembl.1
Natural variantiVAR_064445212G → R in AIS6; defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs149466359EnsemblClinVar.1
Natural variantiVAR_064446230R → W in AIS6; defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs200862001Ensembl.1
Natural variantiVAR_064447266C → G in AIS6; defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs746914032Ensembl.1
Natural variantiVAR_064448309Q → P in AIS6; defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs757586703Ensembl.1
Natural variantiVAR_064449312T → M May predispose to autoimmunity; defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs144510878Ensembl.1
Natural variantiVAR_064450314R → H Defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs147649509Ensembl.1
Natural variantiVAR_064451349Y → C in AIS6; defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs749579541Ensembl.1
Natural variantiVAR_064452393R → H in AIS6; defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs552372846Ensembl.1
Natural variantiVAR_064453400K → N Rare variant found in a patient with Crohn disease; probably not involved in disease susceptibility; the mutant protein has normal activity. 1 PublicationCorresponds to variant dbSNP:rs766047951Ensembl.1
Natural variantiVAR_064454404F → S in AIS6; defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs201877149EnsemblClinVar.1
Natural variantiVAR_064455447H → R The mutant enzyme has normal activity and is normally secreted. 1 PublicationCorresponds to variant dbSNP:rs147161431Ensembl.1
Natural variantiVAR_064456456M → I The mutant enzyme has normal activity and is normally secreted. 1 Publication1
Natural variantiVAR_064457462Q → R The mutant enzyme has normal activity and is normally secreted. 1 PublicationCorresponds to variant dbSNP:rs143668140Ensembl.1
Natural variantiVAR_051357467A → V. Corresponds to variant dbSNP:rs7941523Ensembl.1
Natural variantiVAR_064458479R → C in AIS6; defective enzyme secretion and activity. 1 PublicationCorresponds to variant dbSNP:rs376857712Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0189931 – 35Missing in isoform 2. 1 PublicationAdd BLAST35

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF300796 mRNA Translation: AAG15386.1
AF303378 mRNA Translation: AAG14897.1
AK056093 mRNA Translation: BAG51622.1
CH471065 Genomic DNA Translation: EAW67591.1
BC068450 mRNA Translation: AAH68450.1
AL137496 mRNA Translation: CAB70771.1
CCDSiCCDS55795.1 [Q9HAT2-2]
CCDS8449.1 [Q9HAT2-1]
PIRiT46250
RefSeqiNP_001186851.1, NM_001199922.1 [Q9HAT2-2]
NP_733746.1, NM_170601.4 [Q9HAT2-1]
UniGeneiHs.10056

Genome annotation databases

EnsembliENST00000263593; ENSP00000263593; ENSG00000110013 [Q9HAT2-1]
ENST00000545756; ENSP00000437877; ENSG00000110013 [Q9HAT2-2]
ENST00000618733; ENSP00000478211; ENSG00000110013 [Q9HAT2-2]
GeneIDi54414
KEGGihsa:54414
UCSCiuc001qan.4 human [Q9HAT2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSIAE_HUMAN
AccessioniPrimary (citable) accession number: Q9HAT2
Secondary accession number(s): B3KPB0
, Q8IUT9, Q9HAU7, Q9NT71
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: March 1, 2001
Last modified: June 20, 2018
This is version 125 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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