SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9HAT2

- SIAE_HUMAN

UniProt

Q9HAT2 - SIAE_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Sialate O-acetylesterase
Gene
SIAE, YSG2
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. sialate O-acetylesterase activity Source: UniProt

GO - Biological processi

  1. carbohydrate metabolic process Source: UniProt
  2. regulation of immune system process Source: UniProt
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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:18187. SIAE.

Subcellular locationi

Lysosome Inferred. Secreted 2 Publications

GO - Cellular componenti

  1. extracellular space Source: UniProt
  2. extracellular vesicular exosome Source: UniProt
  3. lysosome Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Lysosome, Secreted

Pathology & Biotechi

Involvement in diseasei

Autoimmune disease 6 (AIS6) [MIM:613551]: Individuals 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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.1 Publication
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
VAR_064445
Natural varianti230 – 2301R → W in AIS6; defective enzyme secretion and activity. 1 Publication
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
VAR_064448
Natural varianti349 – 3491Y → C in AIS6; defective enzyme secretion and activity. 1 Publication
VAR_064451
Natural varianti393 – 3931R → H in AIS6; defective enzyme secretion and activity. 1 Publication
VAR_064452
Natural varianti404 – 4041F → S in AIS6; defective enzyme secretion and activity. 1 Publication
VAR_064454
Natural varianti479 – 4791R → C in AIS6; defective enzyme secretion and activity. 1 Publication
VAR_064458

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi613551. phenotype.
PharmGKBiPA142670922.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323 Reviewed prediction
Add
BLAST
Chaini24 – 523500Sialate O-acetylesterase
PRO_0000042241Add
BLAST

Amino acid modifications

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

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9HAT2.
PaxDbiQ9HAT2.
PRIDEiQ9HAT2.

PTM databases

PhosphoSiteiQ9HAT2.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9HAT2.
CleanExiHS_SIAE.
GenevestigatoriQ9HAT2.

Organism-specific databases

HPAiHPA038052.
HPA038053.

Interactioni

Protein-protein interaction databases

BioGridi119945. 1 interaction.
IntActiQ9HAT2. 1 interaction.
STRINGi9606.ENSP00000263593.

Structurei

3D structure databases

ProteinModelPortaliQ9HAT2.

Family & Domainsi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG41492.
HOGENOMiHOG000065687.
HOVERGENiHBG007955.
InParanoidiQ9HAT2.
KOiK05970.
OMAiLRFASYY.
OrthoDBiEOG7H1JKC.
PhylomeDBiQ9HAT2.
TreeFamiTF328611.

Family and domain databases

InterProiIPR005181. DUF303_acetylest.
[Graphical view]
PfamiPF03629. DUF303. 1 hit.
[Graphical view]

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. Align

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

MVAPGLVLGL VLPLILWADR SAGIGFRFAS YINNDMVLQK EPAGAVIWGF    50
GTPGATVTVT LRQGQETIMK KVTSVKAHSD TWMVVLDPMK PGGPFEVMAQ 100
QTLEKINFTL RVHDVLFGDV WLCSGQSNMQ MTVLQIFNAT RELSNTAAYQ 150
SVRILSVSPI QAEQELEDLV AVDLQWSKPT SENLGHGYFK YMSAVCWLFG 200
RHLYDTLQYP IGLIASSWGG TPIEAWSSGR SLKACGVPKQ GSIPYDSVTG 250
PSKHSVLWNA MIHPLCNMTL KGVVWYQGES NINYNTDLYN CTFPALIEDW 300
RETFHRGSQG QTERFFPFGL VQLSSDLSKK SSDDGFPQIR WHQTADFGYV 350
PNPKMPNTFM AVAMDLCDRD SPFGSIHPRD KQTVAYRLHL GARALAYGEK 400
NLTFEGPLPE KIELLAHKGL LNLTYYQQIQ VQKKDNKIFE ISCCSDHRCK 450
WLPASMNTVS TQSLTLAIDS CHGTVVALRY AWTTWPCEYK QCPLYHPSSA 500
LPAPPFIAFI TDQGPGHQSN VAK 523
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
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
VAR_064439
Natural varianti62 – 621R → H The mutant enzyme has normal activity and is normally secreted. 1 Publication
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
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
VAR_064445
Natural varianti230 – 2301R → W in AIS6; defective enzyme secretion and activity. 1 Publication
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
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
VAR_064450
Natural varianti349 – 3491Y → C in AIS6; defective enzyme secretion and activity. 1 Publication
VAR_064451
Natural varianti393 – 3931R → H in AIS6; defective enzyme secretion and activity. 1 Publication
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
VAR_064453
Natural varianti404 – 4041F → S in AIS6; defective enzyme secretion and activity. 1 Publication
VAR_064454
Natural varianti447 – 4471H → R The mutant enzyme has normal activity and is normally secreted. 1 Publication
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
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
VAR_064458

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 3535Missing in isoform 2.
VSP_018993Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
GeneIDi54414.
KEGGihsa:54414.
UCSCiuc001qan.3. human. [Q9HAT2-1]

Polymorphism databases

DMDMi74734243.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS55795.1. [Q9HAT2-2 ]
CCDS8449.1. [Q9HAT2-1 ]
PIRi T46250.
RefSeqi NP_001186851.1. NM_001199922.1. [Q9HAT2-2 ]
NP_733746.1. NM_170601.4. [Q9HAT2-1 ]
UniGenei Hs.10056.

3D structure databases

ProteinModelPortali Q9HAT2.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119945. 1 interaction.
IntActi Q9HAT2. 1 interaction.
STRINGi 9606.ENSP00000263593.

PTM databases

PhosphoSitei Q9HAT2.

Polymorphism databases

DMDMi 74734243.

Proteomic databases

MaxQBi Q9HAT2.
PaxDbi Q9HAT2.
PRIDEi Q9HAT2.

Protocols and materials databases

DNASUi 54414.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000263593 ; ENSP00000263593 ; ENSG00000110013 . [Q9HAT2-1 ]
ENST00000545756 ; ENSP00000437877 ; ENSG00000110013 . [Q9HAT2-2 ]
GeneIDi 54414.
KEGGi hsa:54414.
UCSCi uc001qan.3. human. [Q9HAT2-1 ]

Organism-specific databases

CTDi 54414.
GeneCardsi GC11M124505.
HGNCi HGNC:18187. SIAE.
HPAi HPA038052.
HPA038053.
MIMi 610079. gene.
613551. phenotype.
neXtProti NX_Q9HAT2.
PharmGKBi PA142670922.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG41492.
HOGENOMi HOG000065687.
HOVERGENi HBG007955.
InParanoidi Q9HAT2.
KOi K05970.
OMAi LRFASYY.
OrthoDBi EOG7H1JKC.
PhylomeDBi Q9HAT2.
TreeFami TF328611.

Miscellaneous databases

ChiTaRSi SIAE. human.
GenomeRNAii 54414.
NextBioi 56621.
PROi Q9HAT2.
SOURCEi Search...

Gene expression databases

Bgeei Q9HAT2.
CleanExi HS_SIAE.
Genevestigatori Q9HAT2.

Family and domain databases

InterProi IPR005181. DUF303_acetylest.
[Graphical view ]
Pfami PF03629. DUF303. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A gene encoding sialic-acid-specific 9-O-acetylesterase found in human adult testis."
    Zhu H., Chan H.C., Zhou Z., Li J.M., Zhu H., Yin L., Xu M., Cheng L., Sha J.H.
    J. Biomed. Biotechnol. 2004:130-136(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    Tissue: Testis.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Hypothalamus.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3-523 (ISOFORM 1).
    Tissue: Amygdala.
  6. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-401 AND ASN-422.
    Tissue: Liver.
  7. Cited for: SUBCELLULAR LOCATION, VARIANTS AIS6 PHE-196; ARG-212; TRP-230; GLY-266; PRO-309; CYS-349; HIS-393; SER-404 AND CYS-479, VARIANTS GLY-3; SER-33; HIS-62; SER-64; ARG-71; VAL-89; LYS-161; MET-312; HIS-314; ASN-400; ARG-447; ILE-456 AND ARG-462, CHARACTERIZATION OF VARIANTS AIS6 PHE-196; ARG-212; TRP-230; GLY-266; PRO-309; CYS-349; HIS-393; SER-404 AND CYS-479, CHARACTERIZATION OF VARIANTS GLY-3; SER-33; HIS-62; SER-64; VAL-89; LYS-161; MET-312; HIS-314; ASN-400; ARG-447; ILE-456 AND ARG-462.

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 3, 2014
This is version 94 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

External Data

Dasty 3

Similar proteinsi