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Q9HAT2 (SIAE_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 91. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sialate O-acetylesterase

EC=3.1.1.53
Alternative name(s):
H-Lse
Sialic acid-specific 9-O-acetylesterase
Gene names
Name:SIAE
Synonyms:YSG2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length523 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Catalytic activity

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

Subcellular location

Lysosome Probable. Secreted Ref.1 Ref.7.

Tissue specificity

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

Involvement in disease

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. Ref.7

Ontologies

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9HAT2-1)

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.
Isoform 2 (identifier: Q9HAT2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2323 Potential
Chain24 – 523500Sialate O-acetylesterase
PRO_0000042241

Amino acid modifications

Glycosylation1071N-linked (GlcNAc...) Potential
Glycosylation1381N-linked (GlcNAc...) Potential
Glycosylation2671N-linked (GlcNAc...) Potential
Glycosylation2901N-linked (GlcNAc...) Potential
Glycosylation4011N-linked (GlcNAc...) Ref.6
Glycosylation4221N-linked (GlcNAc...) Ref.6

Natural variations

Alternative sequence1 – 3535Missing in isoform 2.
VSP_018993
Natural variant31A → 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. Ref.7
VAR_064438
Natural variant331N → 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. Ref.7
VAR_064439
Natural variant621R → H The mutant enzyme has normal activity and is normally secreted. Ref.7
VAR_064440
Natural variant641G → S The mutant enzyme has normal activity and is normally secreted. Ref.7
Corresponds to variant rs76655561 [ dbSNP | Ensembl ].
VAR_064441
Natural variant711K → R. Ref.7
Corresponds to variant rs12282107 [ dbSNP | Ensembl ].
VAR_051356
Natural variant891M → V Polymorphism that at homozygosity may predispose to autoimmunity; normal enzyme activity. Ref.7
Corresponds to variant rs78778622 [ dbSNP | Ensembl ].
VAR_064442
Natural variant1611Q → K The mutant enzyme has normal activity and is normally secreted. Ref.7
VAR_064443
Natural variant1961C → F in AIS6; defective enzyme secretion and activity. Ref.7
Corresponds to variant rs143070599 [ dbSNP | Ensembl ].
VAR_064444
Natural variant2121G → R in AIS6; defective enzyme secretion and activity. Ref.7
VAR_064445
Natural variant2301R → W in AIS6; defective enzyme secretion and activity. Ref.7
VAR_064446
Natural variant2661C → G in AIS6; defective enzyme secretion and activity. Ref.7
VAR_064447
Natural variant3091Q → P in AIS6; defective enzyme secretion and activity. Ref.7
VAR_064448
Natural variant3121T → M May predispose to autoimmunity; defective enzyme secretion and activity. Ref.7
Corresponds to variant rs144510878 [ dbSNP | Ensembl ].
VAR_064449
Natural variant3141R → H Defective enzyme secretion and activity. Ref.7
VAR_064450
Natural variant3491Y → C in AIS6; defective enzyme secretion and activity. Ref.7
VAR_064451
Natural variant3931R → H in AIS6; defective enzyme secretion and activity. Ref.7
VAR_064452
Natural variant4001K → N Rare variant found in a patient with Crohn disease; probably not involved in disease susceptibility; the mutant protein has normal activity. Ref.7
VAR_064453
Natural variant4041F → S in AIS6; defective enzyme secretion and activity. Ref.7
VAR_064454
Natural variant4471H → R The mutant enzyme has normal activity and is normally secreted. Ref.7
VAR_064455
Natural variant4561M → I The mutant enzyme has normal activity and is normally secreted. Ref.7
VAR_064456
Natural variant4621Q → R The mutant enzyme has normal activity and is normally secreted. Ref.7
VAR_064457
Natural variant4671A → V.
Corresponds to variant rs7941523 [ dbSNP | Ensembl ].
VAR_051357
Natural variant4791R → C in AIS6; defective enzyme secretion and activity. Ref.7
VAR_064458

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: B72CF69636DBFED8

FASTA52358,315
        10         20         30         40         50         60 
MVAPGLVLGL VLPLILWADR SAGIGFRFAS YINNDMVLQK EPAGAVIWGF GTPGATVTVT 

        70         80         90        100        110        120 
LRQGQETIMK KVTSVKAHSD TWMVVLDPMK PGGPFEVMAQ QTLEKINFTL RVHDVLFGDV 

       130        140        150        160        170        180 
WLCSGQSNMQ MTVLQIFNAT RELSNTAAYQ SVRILSVSPI QAEQELEDLV AVDLQWSKPT 

       190        200        210        220        230        240 
SENLGHGYFK YMSAVCWLFG RHLYDTLQYP IGLIASSWGG TPIEAWSSGR SLKACGVPKQ 

       250        260        270        280        290        300 
GSIPYDSVTG PSKHSVLWNA MIHPLCNMTL KGVVWYQGES NINYNTDLYN CTFPALIEDW 

       310        320        330        340        350        360 
RETFHRGSQG QTERFFPFGL VQLSSDLSKK SSDDGFPQIR WHQTADFGYV PNPKMPNTFM 

       370        380        390        400        410        420 
AVAMDLCDRD SPFGSIHPRD KQTVAYRLHL GARALAYGEK NLTFEGPLPE KIELLAHKGL 

       430        440        450        460        470        480 
LNLTYYQQIQ VQKKDNKIFE ISCCSDHRCK WLPASMNTVS TQSLTLAIDS CHGTVVALRY 

       490        500        510        520 
AWTTWPCEYK QCPLYHPSSA LPAPPFIAFI TDQGPGHQSN VAK 

« Hide

Isoform 2 [UniParc].

Checksum: DBB030C82DA44916
Show »

FASTA48854,572

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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]"Functionally defective germline variants of sialic acid acetylesterase in autoimmunity."
Surolia I., Pirnie S.P., Chellappa V., Taylor K.N., Cariappa A., Moya J., Liu H., Bell D.W., Driscoll D.R., Diederichs S., Haider K., Netravali I., Le S., Elia R., Dow E., Lee A., Freudenberg J., De Jager P.L. expand/collapse author list , Chretien Y., Varki A., Macdonald M.E., Gillis T., Behrens T.W., Bloch D., Collier D., Korzenik J., Podolsky D.K., Hafler D., Murali M., Sands B., Stone J.H., Gregersen P.K., Pillai S.
Nature 466:243-247(2010) [PubMed] [Europe PMC] [Abstract]
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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRT46250.
RefSeqNP_001186851.1. NM_001199922.1.
NP_733746.1. NM_170601.4.
UniGeneHs.10056.

3D structure databases

ProteinModelPortalQ9HAT2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119945. 1 interaction.
IntActQ9HAT2. 1 interaction.
STRING9606.ENSP00000263593.

PTM databases

PhosphoSiteQ9HAT2.

Polymorphism databases

DMDM74734243.

Proteomic databases

PaxDbQ9HAT2.
PRIDEQ9HAT2.

Protocols and materials databases

DNASU54414.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263593; ENSP00000263593; ENSG00000110013. [Q9HAT2-1]
ENST00000545756; ENSP00000437877; ENSG00000110013. [Q9HAT2-2]
GeneID54414.
KEGGhsa:54414.
UCSCuc001qan.3. human. [Q9HAT2-1]

Organism-specific databases

CTD54414.
GeneCardsGC11M124505.
HGNCHGNC:18187. SIAE.
HPAHPA038052.
HPA038053.
MIM610079. gene.
613551. phenotype.
neXtProtNX_Q9HAT2.
PharmGKBPA142670922.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41492.
HOGENOMHOG000065687.
HOVERGENHBG007955.
InParanoidQ9HAT2.
KOK05970.
OMAYQSVRIF.
OrthoDBEOG7H1JKC.
PhylomeDBQ9HAT2.
TreeFamTF328611.

Gene expression databases

BgeeQ9HAT2.
CleanExHS_SIAE.
GenevestigatorQ9HAT2.

Family and domain databases

InterProIPR005181. DUF303_acetylest.
[Graphical view]
PfamPF03629. DUF303. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSIAE. human.
GenomeRNAi54414.
NextBio56621.
PROQ9HAT2.
SOURCESearch...

Entry information

Entry nameSIAE_HUMAN
AccessionPrimary (citable) accession number: Q9HAT2
Secondary accession number(s): B3KPB0 expand/collapse secondary AC list , Q8IUT9, Q9HAU7, Q9NT71
Entry history
Integrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: March 1, 2001
Last modified: March 19, 2014
This is version 91 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM