SIAE - sialic acid acetylesterase Gene

Homo sapiens

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

Gene ID: 54414 | Gene type: protein coding

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	Reference	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	Reference	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
523 a.a.

Protein Preferred Names

Protein Names

sialate O-acetylesterase

H-Lse

SIAE Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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%
HY-P74548	SIAE Protein, Human (sf9, His)	Q9HAT2-1 (I24-K523)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12890	SIAE Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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