SIAE - sialic acid acetylesterase Gene

Also Known as LSE; AIS6; CSEC; YSG2; CSE-C

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54414

About SIAE

Cytogenetic location: 11q24.2 Genomic coordinates (GRCh38): 11:124,633,113-124,676,303 (from NCBI)

This gene has 6 transcripts (splice variants), 200 orthologues and is associated with 1 phenotype. Broad expression in colon (RPKM 39.1), thyroid (RPKM 19.2) and 21 other tissues.

Summary

This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011]

SIAE Products (2)

mRNA	Protein	Name
NM_001199922.2	NP_001186851.1	sialate O-acetylesterase isoform 2
NM_170601.5	NP_733746.1	sialate O-acetylesterase isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	33961781	GOA
enables sialate O-acetylesterase activity	IDA IDA: Inferred from direct assay	23308225	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in carbohydrate metabolic process	IDA IDA: Inferred from direct assay	23308225	GOA
involved in regulation of immune system process	IMP IMP: Inferred from mutant phenotype	20555325	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SIAE Protein Structure

SASA

0
100
200
300
400
500
523 a.a.

Protein Preferred Names	Protein Names
sialate O-acetylesterase	H-Lse

SIAE Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SIAE	Q9HAT2	FBXO2	Homo sapiens	Q9UK22	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SIAE Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71309	SIAE Protein, Human (HEK293, His)	Q9HAT2-1 (I24-K523)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P74548	SIAE Protein, Human (sf9, His)	Q9HAT2-1 (I24-K523)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Autoimmune Disease 6	Autoimmune Disease, Susceptibility To, 6 AIS6 Autoimmune Disease Susceptibility 6 Autoimmune Disease, Susceptibility To, Type 6
Autoimmune Disease	Autoimmune Diseases Autoimmune Hypersensitivity Disease Hypersensitivity Reaction Type Ii Disease Type Ii Hypersensitivity Reaction Disease
Sjogren Syndrome	Sicca Syndrome Sjogren'S Syndrome Sjögren Syndrome Sjogren-Gougerot Syndrome Keratoconjunctivitis Sicca Sjögren'S Syndrome Xerodermosteosis Dacryosialoadenopathia Atrophicans Gougerot-Houwer-Sjogren Syndrome Gougerot-Sjogren Syndrome Keratoconjunctivitis Sicca-Xerostomia Secreto-Inhibitor-Xerodermostenosis Primary Sjogren Syndrome Primary Sjogren-Gougerot Syndrome Sjogrens Syndrome Primary Sjogrens Syndrome Dry Eye Syndromes
Rheumatoid Arthritis	RA Arthritis, Rheumatoid Rheumatoid Arthritis, Susceptibility To Arthritis Or Polyarthritis, Rheumatic Atrophic Arthritis Rheumatism Arthritis Rheumatoid Polyarthritis
Alcohol-Related Birth Defects	Arbd Alcohol-Related Birth Defect Alcohol Related Birth Defect Fetal Alcohol Syndrome
Intellectual Developmental Disorder, X-Linked 109	Fraxe Syndrome Fragile Xe Syndrome Mental Retardation, X-Linked, Fraxe Type XLID109 Mrx109 Mental Retardation, X-Linked, Associated With Fragile Site Fraxe Fraxe Mental Retardation Syndrome X-Linked Intellectual Developmental Disorder 109 Fraxe Intellectual Disability Fraxe Mental Retardation, X-Linked 109 Fragile Site On Chromosome Xq28 Fragile Site, Folic Acid Type X-Linked Intellectual Disability Associated With Fragile Site Fraxe Fraxe Intellectual Deficit Intellectual Disability Associated With Fragile Site Fraxe

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12890	SIAE Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19954	Siae Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26456	Siae Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SIAE	VGNC	VGNC:46162
Macaca mulatta	SIAE	VGNC	VGNC:77264
Rattus norvegicus	SIAE	RGD	RGD:1310431
Bos taurus	SIAE	VGNC	VGNC:34613
Mus musculus	SIAE	MGD	MGI:104803
Others	SIAE	NCBI