Q9HAT2 (SIAE_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	523 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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

Keywords
Cellular component	Lysosome Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Signal
Molecular function	Hydrolase Serine esterase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell lysosome Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	carboxylesterase activity Inferred from electronic annotation. Source: UniProtKB-KW sialate O-acetylesterase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 23	23	Potential
	Chain	24 – 523	500	Sialate O-acetylesterase		PRO_0000042241
Amino acid modifications
	Glycosylation	107	1	N-linked (GlcNAc...) Potential
	Glycosylation	138	1	N-linked (GlcNAc...) Potential
	Glycosylation	267	1	N-linked (GlcNAc...) Potential
	Glycosylation	290	1	N-linked (GlcNAc...) Potential
	Glycosylation	401	1	N-linked (GlcNAc...) Ref.6
	Glycosylation	422	1	N-linked (GlcNAc...) Ref.6
Natural variations
	Alternative sequence	1 – 35	35	Missing in isoform 2.		VSP_018993
	Natural variant	3	1	A → 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 variant	33	1	N → 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 variant	62	1	R → H The mutant enzyme has normal activity and is normally secreted. Ref.7		VAR_064440
	Natural variant	64	1	G → S The mutant enzyme has normal activity and is normally secreted. Ref.7		VAR_064441
	Natural variant	71	1	K → R. Ref.7 Corresponds to variant rs12282107 [ dbSNP | Ensembl ].		VAR_051356
	Natural variant	89	1	M → V Polymorphism that at homozygosity may predispose to autoimmunity; normal enzyme activity. Ref.7 Corresponds to variant rs78778622 [ dbSNP | Ensembl ].		VAR_064442
	Natural variant	161	1	Q → K The mutant enzyme has normal activity and is normally secreted. Ref.7		VAR_064443
	Natural variant	196	1	C → F in AIS6; defective enzyme secretion and activity. Ref.7		VAR_064444
	Natural variant	212	1	G → R in AIS6; defective enzyme secretion and activity. Ref.7		VAR_064445
	Natural variant	230	1	R → W in AIS6; defective enzyme secretion and activity. Ref.7		VAR_064446
	Natural variant	266	1	C → G in AIS6; defective enzyme secretion and activity. Ref.7		VAR_064447
	Natural variant	309	1	Q → P in AIS6; defective enzyme secretion and activity. Ref.7		VAR_064448
	Natural variant	312	1	T → M May predispose to autoimmunity; defective enzyme secretion and activity. Ref.7		VAR_064449
	Natural variant	314	1	R → H Defective enzyme secretion and activity. Ref.7		VAR_064450
	Natural variant	349	1	Y → C in AIS6; defective enzyme secretion and activity. Ref.7		VAR_064451
	Natural variant	393	1	R → H in AIS6; defective enzyme secretion and activity. Ref.7		VAR_064452
	Natural variant	400	1	K → 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 variant	404	1	F → S in AIS6; defective enzyme secretion and activity. Ref.7		VAR_064454
	Natural variant	447	1	H → R The mutant enzyme has normal activity and is normally secreted. Ref.7		VAR_064455
	Natural variant	456	1	M → I The mutant enzyme has normal activity and is normally secreted. Ref.7		VAR_064456
	Natural variant	462	1	Q → R The mutant enzyme has normal activity and is normally secreted. Ref.7		VAR_064457
	Natural variant	467	1	A → V. Corresponds to variant rs7941523 [ dbSNP | Ensembl ].		VAR_051357
	Natural variant	479	1	R → C in AIS6; defective enzyme secretion and activity. Ref.7		VAR_064458

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: B72CF69636DBFED8	FASTA	523	58,315
	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
	Isoform 2 [UniParc]. Checksum: DBB030C82DA44916	FASTA	488	54,572
	10 20 30 40 50 60 MVLQKEPAGA VIWGFGTPGA TVTVTLRQGQ ETIMKKVTSV KAHSDTWMVV LDPMKPGGPF 70 80 90 100 110 120 EVMAQQTLEK INFTLRVHDV LFGDVWLCSG QSNMQMTVLQ IFNATRELSN TAAYQSVRIL 130 140 150 160 170 180 SVSPIQAEQE LEDLVAVDLQ WSKPTSENLG HGYFKYMSAV CWLFGRHLYD TLQYPIGLIA 190 200 210 220 230 240 SSWGGTPIEA WSSGRSLKAC GVPKQGSIPY DSVTGPSKHS VLWNAMIHPL CNMTLKGVVW 250 260 270 280 290 300 YQGESNINYN TDLYNCTFPA LIEDWRETFH RGSQGQTERF FPFGLVQLSS DLSKKSSDDG 310 320 330 340 350 360 FPQIRWHQTA DFGYVPNPKM PNTFMAVAMD LCDRDSPFGS IHPRDKQTVA YRLHLGARAL 370 380 390 400 410 420 AYGEKNLTFE GPLPEKIELL AHKGLLNLTY YQQIQVQKKD NKIFEISCCS DHRCKWLPAS 430 440 450 460 470 480 MNTVSTQSLT LAIDSCHGTV VALRYAWTTW PCEYKQCPLY HPSSALPAPP FIAFITDQGP GHQSNVAK

References

	« Hide 'large scale' referencesShow '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. , 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. , 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, MASS SPECTROMETRY. 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. , 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.
IPI	IPI00010949. IPI00759728.
PIR	T46250.
RefSeq	NP_001186851.1. NM_001199922.1. NP_733746.1. NM_170601.4.
UniGene	Hs.10056.
3D structure databases
ProteinModelPortal	Q9HAT2.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9HAT2. 1 interaction.
STRING	9606.ENSP00000263593.
PTM databases
PhosphoSite	Q9HAT2.
Polymorphism databases
DMDM	74734243.
Proteomic databases
PaxDb	Q9HAT2.
PRIDE	Q9HAT2.
Protocols and materials databases
DNASU	54414.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000263593; ENSP00000263593; ENSG00000110013. ENST00000545756; ENSP00000437877; ENSG00000110013.
GeneID	54414.
KEGG	hsa:54414.
UCSC	uc001qan.3. human.
Organism-specific databases
CTD	54414.
GeneCards	GC11M124505.
HGNC	HGNC:18187. SIAE.
HPA	HPA038052. HPA038053.
MIM	610079. gene. 613551. phenotype.
neXtProt	NX_Q9HAT2.
PharmGKB	PA142670922.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG41492.
HOGENOM	HOG000065687.
HOVERGEN	HBG007955.
InParanoid	Q9HAT2.
KO	K05970.
OMA	WLPASMN.
OrthoDB	EOG43R3MH.
PhylomeDB	Q9HAT2.
Gene expression databases
Bgee	Q9HAT2.
CleanEx	HS_SIAE.
Genevestigator	Q9HAT2.
GermOnline	ENSG00000110013. Homo sapiens.
Family and domain databases
InterPro	IPR005181. DUF303_acetylest. [Graphical view]
Pfam	PF03629. DUF303. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	SIAE. human.
GenomeRNAi	54414.
NextBio	56621.
SOURCE	Search...

Entry information

Entry name

SIAE_HUMAN

Accession

Primary (citable) accession number: Q9HAT2
Secondary accession number(s): B3KPB0 , Q8IUT9, Q9HAU7, Q9NT71

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 11, 2005
Last sequence update:	March 1, 2001
Last modified:	May 1, 2013
This is version 84 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.