Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54414
Gene name	Sialic acid acetylesterase
Gene symbol	SIAE
Synonyms (NCBI Gene)	AIS6CSE-CCSECLSEYSG2
Chromosome	11
Chromosome location	11q24.2
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 cyt

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs78778622	T>A,C	Risk-factor	Missense variant, 5 prime UTR variant, coding sequence variant
rs143070599	C>A	Risk-factor	Coding sequence variant, missense variant
rs144510878	G>A	Risk-factor	Coding sequence variant, missense variant
rs201877149	A>G	Risk-factor	Coding sequence variant, missense variant

Show/Hide all (76)

miRTarBase ID	miRNA	Experiments	Reference
MIRT681854	hsa-miR-1273g-3p	HITS-CLIP	23706177
MIRT681853	hsa-miR-4537	HITS-CLIP	23706177
MIRT681852	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT681851	hsa-miR-4252	HITS-CLIP	23706177
MIRT681850	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT681849	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT681853	hsa-miR-4537	PAR-CLIP	26701625
MIRT681853	hsa-miR-4537	PAR-CLIP	26701625
MIRT681853	hsa-miR-4537	PAR-CLIP	26701625
MIRT681850	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT681850	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT681850	hsa-miR-455-3p	PAR-CLIP	26701625
MIRT681852	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT681852	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT681852	hsa-miR-6499-3p	PAR-CLIP	26701625
MIRT681849	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT681849	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT681849	hsa-miR-6516-5p	PAR-CLIP	26701625
MIRT681853	hsa-miR-4537	PAR-CLIP	27292025
MIRT681850	hsa-miR-455-3p	PAR-CLIP	27292025
MIRT681852	hsa-miR-6499-3p	PAR-CLIP	27292025
MIRT681849	hsa-miR-6516-5p	PAR-CLIP	27292025
MIRT681854	hsa-miR-1273g-3p	HITS-CLIP	23706177
MIRT681853	hsa-miR-4537	HITS-CLIP	23706177
MIRT681852	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT681851	hsa-miR-4252	HITS-CLIP	23706177
MIRT681850	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT681849	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT1348106	hsa-miR-1324	CLIP-seq
MIRT1348107	hsa-miR-3126-5p	CLIP-seq
MIRT1348108	hsa-miR-3646	CLIP-seq
MIRT1348109	hsa-miR-3942-3p	CLIP-seq
MIRT1348110	hsa-miR-4419a	CLIP-seq
MIRT1348111	hsa-miR-4510	CLIP-seq
MIRT1348112	hsa-miR-4775	CLIP-seq
MIRT1348113	hsa-miR-590-3p	CLIP-seq
MIRT1921302	hsa-miR-376a	CLIP-seq
MIRT1921303	hsa-miR-376b	CLIP-seq
MIRT1921304	hsa-miR-3976	CLIP-seq
MIRT1921302	hsa-miR-376a	CLIP-seq
MIRT1921303	hsa-miR-376b	CLIP-seq
MIRT1921304	hsa-miR-3976	CLIP-seq
MIRT1921302	hsa-miR-376a	CLIP-seq
MIRT1921303	hsa-miR-376b	CLIP-seq
MIRT1921304	hsa-miR-3976	CLIP-seq
MIRT2622585	hsa-miR-1231	CLIP-seq
MIRT2622586	hsa-miR-1297	CLIP-seq
MIRT2622587	hsa-miR-26a	CLIP-seq
MIRT2622588	hsa-miR-26b	CLIP-seq
MIRT2622589	hsa-miR-3137	CLIP-seq
MIRT2622590	hsa-miR-323b-3p	CLIP-seq
MIRT2622591	hsa-miR-3684	CLIP-seq
MIRT2622592	hsa-miR-378g	CLIP-seq
MIRT2622593	hsa-miR-4288	CLIP-seq
MIRT2622594	hsa-miR-4437	CLIP-seq
MIRT2622595	hsa-miR-4465	CLIP-seq
MIRT2622596	hsa-miR-4540	CLIP-seq
MIRT2622597	hsa-miR-4674	CLIP-seq
MIRT2622598	hsa-miR-4703-3p	CLIP-seq
MIRT2622599	hsa-miR-498	CLIP-seq
MIRT2622600	hsa-miR-621	CLIP-seq
MIRT2622601	hsa-miR-632	CLIP-seq
MIRT2622602	hsa-miR-661	CLIP-seq
MIRT2622585	hsa-miR-1231	CLIP-seq
MIRT2622589	hsa-miR-3137	CLIP-seq
MIRT2622590	hsa-miR-323b-3p	CLIP-seq
MIRT2622591	hsa-miR-3684	CLIP-seq
MIRT2622592	hsa-miR-378g	CLIP-seq
MIRT2622593	hsa-miR-4288	CLIP-seq
MIRT2622594	hsa-miR-4437	CLIP-seq
MIRT2622596	hsa-miR-4540	CLIP-seq
MIRT2622597	hsa-miR-4674	CLIP-seq
MIRT2622598	hsa-miR-4703-3p	CLIP-seq
MIRT2622599	hsa-miR-498	CLIP-seq
MIRT2622601	hsa-miR-632	CLIP-seq
MIRT2622602	hsa-miR-661	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001681	Function	Sialate O-acetylesterase activity	IBA
GO:0001681	Function	Sialate O-acetylesterase activity	IDA	23308225
GO:0001681	Function	Sialate O-acetylesterase activity	IEA
GO:0002682	Process	Regulation of immune system process	IMP	20555325
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005975	Process	Carbohydrate metabolic process	IBA
GO:0005975	Process	Carbohydrate metabolic process	IDA	23308225
GO:0016787	Function	Hydrolase activity	IEA
GO:0052689	Function	Carboxylic ester hydrolase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0106330	Function	Sialate 9-O-acetylesterase activity	IEA

MIM	HGNC	e!Ensembl
610079	18187	ENSG00000110013

Q9HAT2

Protein name

Sialate O-acetylesterase (SIAE) (EC 3.1.1.53) (H-Lse) (Sialic acid-specific 9-O-acetylesterase)

Protein function

Catalyzes the removal of O-acetyl ester groups from position 9 of the free diacetylated sialate N-acetyl-9-O-acetylneuraminate (Neu5,9Ac2) in the cytosol and of the diacetylated sialate residues of sialylglycoconjugates in the lysosomes (Probabl

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03629	SASA	117 → 380	Carbohydrate esterase, sialic acid-specific acetylesterase	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with high expression in the testis, prostate, and colon. {ECO:0000269|PubMed:15292578}.

Sequence

MVAPGLVLGLVLPLILWADRSAGIGFRFASYINNDMVLQKEPAGAVIWGFGTPGATVTVT
LRQGQETIMKKVTSVKAHSDTWMVVLDPMKPGGPFEVMAQQTLEKINFTLRVHDVLFGDV
WLCSGQSNMQMTVLQIFNATRELSNTAAYQSVRILSVSPIQAEQELEDLVAVDLQWSKPT
SENLGHGYFKYMSAVCWLFGRHLYDTLQYPIGLIASSWGGTPIEAWSSGRSLKACGVPKQ
GSIPYDSVTGPSKHSVLWNAMIHPLCNMTLKGVVWYQGESNINYNTDLYNCTFPALIEDW
RETFHRGSQGQTERFFPFGLVQLSSDLSKKSSDDGFPQIRWHQTADFGYVPNPKMPNTFM
AVAMDLCDRDSPFGSIHPRDKQTVAYRLHLGARALAYGEKNLTFEGPLPEKIELLAHKGL
LNLTYYQQIQVQKKDNKIFEISCCSDHRCKWLPASMNTVSTQSLTLAIDSCHGTVVALRY
AWTTWPCEYKQCPLYHPSSALPAPPFIAFITDQGPGHQSNVAK

Sequence length

523

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune disease, susceptibility to, 6	Uncertain significance; Benign	ClinVar ClinVar, GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTOIMMUNE DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile idiopathic arthritis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIAE-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Addison Disease	Associate	23011869	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Associate	26535733	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Associate	21183218, 23011869, 24748456	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Hypophysitis	Associate	24748456	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	14717696	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Associate	24748456	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exocrine Pancreatic Insufficiency	Associate	35954202	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Associate	22257840	★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Associate	31197190	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	33531688	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pre Eclampsia	Associate	21183218	★★★★★ ★☆☆☆☆ Found in Text Mining only

SIAE (sialic acid acetylesterase)