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Protein

Sialate O-acetylesterase

Gene

SIAE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, 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

HGNCiHGNC:18187. SIAE.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • extracellular space Source: UniProtKB
  • lysosome Source: UniProtKB-SubCell
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti196 – 1961C → F in AIS6; defective enzyme secretion and activity. 1 Publication
Corresponds to variant rs143070599 [ dbSNP | Ensembl ].
VAR_064444
Natural varianti212 – 2121G → R in AIS6; defective enzyme secretion and activity. 1 Publication
Corresponds to variant rs149466359 [ dbSNP | Ensembl ].
VAR_064445
Natural varianti230 – 2301R → W in AIS6; defective enzyme secretion and activity. 1 Publication
Corresponds to variant rs200862001 [ dbSNP | Ensembl ].
VAR_064446
Natural varianti266 – 2661C → G in AIS6; defective enzyme secretion and activity. 1 Publication
VAR_064447
Natural varianti309 – 3091Q → P in AIS6; defective enzyme secretion and activity. 1 Publication
Corresponds to variant rs757586703 [ dbSNP | Ensembl ].
VAR_064448
Natural varianti349 – 3491Y → C in AIS6; defective enzyme secretion and activity. 1 Publication
Corresponds to variant rs749579541 [ dbSNP | Ensembl ].
VAR_064451
Natural varianti393 – 3931R → H in AIS6; defective enzyme secretion and activity. 1 Publication
Corresponds to variant rs552372846 [ dbSNP | Ensembl ].
VAR_064452
Natural varianti404 – 4041F → S in AIS6; defective enzyme secretion and activity. 1 Publication
Corresponds to variant rs201877149 [ dbSNP | Ensembl ].
VAR_064454
Natural varianti479 – 4791R → C in AIS6; defective enzyme secretion and activity. 1 Publication
Corresponds to variant rs376857712 [ dbSNP | Ensembl ].
VAR_064458

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiSIAE.
MIMi613551. phenotype.
PharmGKBiPA142670922.

Polymorphism and mutation databases

BioMutaiSIAE.
DMDMi74734243.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323Sequence analysisAdd
BLAST
Chaini24 – 523500Sialate O-acetylesterasePRO_0000042241Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi107 – 1071N-linked (GlcNAc...)Sequence analysis
Glycosylationi138 – 1381N-linked (GlcNAc...)Sequence analysis
Glycosylationi267 – 2671N-linked (GlcNAc...)Sequence analysis
Glycosylationi290 – 2901N-linked (GlcNAc...)Sequence analysis
Glycosylationi401 – 4011N-linked (GlcNAc...)1 Publication
Glycosylationi422 – 4221N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9HAT2.
MaxQBiQ9HAT2.
PaxDbiQ9HAT2.
PeptideAtlasiQ9HAT2.
PRIDEiQ9HAT2.

PTM databases

iPTMnetiQ9HAT2.
PhosphoSiteiQ9HAT2.

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. 53 interactions.
IntActiQ9HAT2. 1 interaction.
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.
OMAiWLPASMN.
OrthoDBiEOG091G04JT.
PhylomeDBiQ9HAT2.
TreeFamiTF328611.

Family and domain databases

InterProiIPR005181. SASA.
IPR013830. SGNH_hydro.
[Graphical view]
PfamiPF03629. SASA. 1 hit.
[Graphical view]
SUPFAMiSSF52266. SSF52266. 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31A → 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 Publication
Corresponds to variant rs144571829 [ dbSNP | Ensembl ].
VAR_064438
Natural varianti33 – 331N → 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 Publication
Corresponds to variant rs762824510 [ dbSNP | Ensembl ].
VAR_064439
Natural varianti62 – 621R → H The mutant enzyme has normal activity and is normally secreted. 1 Publication
Corresponds to variant rs377634657 [ dbSNP | Ensembl ].
VAR_064440
Natural varianti64 – 641G → S The mutant enzyme has normal activity and is normally secreted. 1 Publication
Corresponds to variant rs76655561 [ dbSNP | Ensembl ].
VAR_064441
Natural varianti71 – 711K → R.1 Publication
Corresponds to variant rs12282107 [ dbSNP | Ensembl ].
VAR_051356
Natural varianti89 – 891M → V Polymorphism that at homozygosity may predispose to autoimmunity; normal enzyme activity. 1 Publication
Corresponds to variant rs78778622 [ dbSNP | Ensembl ].
VAR_064442
Natural varianti161 – 1611Q → K The mutant enzyme has normal activity and is normally secreted. 1 Publication
Corresponds to variant rs200739060 [ dbSNP | Ensembl ].
VAR_064443
Natural varianti196 – 1961C → F in AIS6; defective enzyme secretion and activity. 1 Publication
Corresponds to variant rs143070599 [ dbSNP | Ensembl ].
VAR_064444
Natural varianti212 – 2121G → R in AIS6; defective enzyme secretion and activity. 1 Publication
Corresponds to variant rs149466359 [ dbSNP | Ensembl ].
VAR_064445
Natural varianti230 – 2301R → W in AIS6; defective enzyme secretion and activity. 1 Publication
Corresponds to variant rs200862001 [ dbSNP | Ensembl ].
VAR_064446
Natural varianti266 – 2661C → G in AIS6; defective enzyme secretion and activity. 1 Publication
VAR_064447
Natural varianti309 – 3091Q → P in AIS6; defective enzyme secretion and activity. 1 Publication
Corresponds to variant rs757586703 [ dbSNP | Ensembl ].
VAR_064448
Natural varianti312 – 3121T → M May predispose to autoimmunity; defective enzyme secretion and activity. 1 Publication
Corresponds to variant rs144510878 [ dbSNP | Ensembl ].
VAR_064449
Natural varianti314 – 3141R → H Defective enzyme secretion and activity. 1 Publication
Corresponds to variant rs147649509 [ dbSNP | Ensembl ].
VAR_064450
Natural varianti349 – 3491Y → C in AIS6; defective enzyme secretion and activity. 1 Publication
Corresponds to variant rs749579541 [ dbSNP | Ensembl ].
VAR_064451
Natural varianti393 – 3931R → H in AIS6; defective enzyme secretion and activity. 1 Publication
Corresponds to variant rs552372846 [ dbSNP | Ensembl ].
VAR_064452
Natural varianti400 – 4001K → N Rare variant found in a patient with Crohn disease; probably not involved in disease susceptibility; the mutant protein has normal activity. 1 Publication
Corresponds to variant rs766047951 [ dbSNP | Ensembl ].
VAR_064453
Natural varianti404 – 4041F → S in AIS6; defective enzyme secretion and activity. 1 Publication
Corresponds to variant rs201877149 [ dbSNP | Ensembl ].
VAR_064454
Natural varianti447 – 4471H → R The mutant enzyme has normal activity and is normally secreted. 1 Publication
Corresponds to variant rs147161431 [ dbSNP | Ensembl ].
VAR_064455
Natural varianti456 – 4561M → I The mutant enzyme has normal activity and is normally secreted. 1 Publication
VAR_064456
Natural varianti462 – 4621Q → R The mutant enzyme has normal activity and is normally secreted. 1 Publication
Corresponds to variant rs143668140 [ dbSNP | Ensembl ].
VAR_064457
Natural varianti467 – 4671A → V.
Corresponds to variant rs7941523 [ dbSNP | Ensembl ].
VAR_051357
Natural varianti479 – 4791R → C in AIS6; defective enzyme secretion and activity. 1 Publication
Corresponds to variant rs376857712 [ dbSNP | Ensembl ].
VAR_064458

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 3535Missing in isoform 2. 1 PublicationVSP_018993Add
BLAST

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9HAT2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119945. 53 interactions.
IntActiQ9HAT2. 1 interaction.
STRINGi9606.ENSP00000263593.

PTM databases

iPTMnetiQ9HAT2.
PhosphoSiteiQ9HAT2.

Polymorphism and mutation databases

BioMutaiSIAE.
DMDMi74734243.

Proteomic databases

EPDiQ9HAT2.
MaxQBiQ9HAT2.
PaxDbiQ9HAT2.
PeptideAtlasiQ9HAT2.
PRIDEiQ9HAT2.

Protocols and materials databases

DNASUi54414.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi54414.
GeneCardsiSIAE.
HGNCiHGNC:18187. SIAE.
HPAiHPA038052.
HPA038053.
MalaCardsiSIAE.
MIMi610079. gene.
613551. phenotype.
neXtProtiNX_Q9HAT2.
PharmGKBiPA142670922.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiSIAE. human.
GenomeRNAii54414.
PROiQ9HAT2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000110013.
CleanExiHS_SIAE.
GenevisibleiQ9HAT2. HS.

Family and domain databases

InterProiIPR005181. SASA.
IPR013830. SGNH_hydro.
[Graphical view]
PfamiPF03629. SASA. 1 hit.
[Graphical view]
SUPFAMiSSF52266. SSF52266. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiSIAE_HUMAN
AccessioniPrimary (citable) accession number: Q9HAT2
Secondary accession number(s): B3KPB0
, Q8IUT9, Q9HAU7, Q9NT71
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: March 1, 2001
Last modified: September 7, 2016
This is version 112 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.