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Q9HAT2

- SIAE_HUMAN

UniProt

Q9HAT2 - SIAE_HUMAN

Protein

Sialate O-acetylesterase

Gene

SIAE

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    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

    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

    GO - Cellular componenti

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

    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.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    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 – 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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    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. 1 PublicationVSP_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

    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: October 1, 2014
    This is version 95 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