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SIAE sialic acid acetylesterase [ Homo sapiens (human) ]

Gene ID: 54414, updated on 5-Mar-2024

Summary

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Official Symbol
SIAEprovided by HGNC
Official Full Name
sialic acid acetylesteraseprovided by HGNC
Primary source
HGNC:HGNC:18187
See related
Ensembl:ENSG00000110013 MIM:610079; AllianceGenome:HGNC:18187
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LSE; AIS6; CSEC; YSG2; CSE-C
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]
Expression
Broad expression in colon (RPKM 39.1), thyroid (RPKM 19.2) and 21 other tissues See more
Orthologs
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Genomic context

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Location:
11q24.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (124633113..124676303, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (124661771..124704961, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (124503009..124546199, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 8 subfamily Q member 1 pseudogene Neighboring gene uncharacterized LOC124902779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5688 Neighboring gene pannexin 3 Neighboring gene transforming growth factor beta regulator 1 Neighboring gene RNA, 5S ribosomal pseudogene 352 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:124543663-124543821 Neighboring gene uncharacterized LOC124902780 Neighboring gene sperm autoantigenic protein 17 Neighboring gene MPRA-validated peak1498 silencer Neighboring gene uncharacterized LOC107984405 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124615273-124615806 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124616341-124616874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4027 Neighboring gene neurogranin

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies. Sevdali E, et al. J Immunol Res, 2017. PMID 28900629, Free PMC Article
  2. Lack of association between rare mutations of the SIAE gene and rheumatoid arthritis in a Han Chinese population. Zhang DD, et al. Genet Mol Res, 2015 Oct 30. PMID 26535733
  3. A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti-PIT-1 antibody syndrome. Yamamoto M, et al. Endocr J, 2014. PMID 24748456
  4. The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease. Gan EH, et al. Eur J Endocrinol, 2012 Dec. PMID 23011869, Free PMC Article
  5. No evidence for rare pathological SIAE coding variants in patients with vitiligo. Al-Yami N, et al. Int J Dermatol, 2013 Aug. PMID 22913750

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. analysis of whether SIAE rare variants associated with phenotype of juvenile idiopathic arthritis (JIA) and autoimmunity risk in families with primary antibody deficiencies(PADS); 3 novel variants were found in patients with JIA and in their healthy relatives without autoimmunity; none of PAD patients or their relatives had SIAE defects; results show SIAE rare variants are not causative of autoimmunity as single defects
    Title: SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies.
  2. Authors determined whether mutations in the SIAE gene are responsible for RA in a Han Chinese population
    Title: Lack of association between rare mutations of the SIAE gene and rheumatoid arthritis in a Han Chinese population.
  3. We found A467V SIAE variants (c.1400C>T, rs7941523) in a heterozygous state in all the patients with anti-PIT-1 antibody syndrome.
    Title: A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti-PIT-1 antibody syndrome.
  4. There is no evidence for SIAE genetic variants affecting patients with vitiligo.
    Title: No evidence for rare pathological SIAE coding variants in patients with vitiligo.
  5. SIAE may be associated with autoimmunity.
    Title: M89V Sialic acid Acetyl Esterase (SIAE) and all other non-synonymous common variants of this gene are catalytically normal.
  6. The analysis does not support a role for rare variants in SIAE in the pathogenesis of autoimmune Addison's disease.
    Title: The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease.
  7. SIAE variants play a role in primary biliary cirrhosis.
    Title: Association of primary biliary cirrhosis with variants in the CLEC16A, SOCS1, SPIB and SIAE immunomodulatory genes.
  8. These studies demonstrate that both SIAE and SOAT activities seem to be responsible for the enhanced level of Neu5,9Ac(2) in lymphoblasts, which is a hallmark in acute lymphoblastic leukemia
    Title: Regulation of O-acetylation of sialic acids by sialate-O-acetyltransferase and sialate-O-acetylesterase activities in childhood acute lymphoblastic leukemia.
  9. SIAE expression is upregulated in placentas from pregnancies complicated by preeclampsia.
    Title: Transcriptional profiling of human placentas from pregnancies complicated by preeclampsia reveals disregulation of sialic acid acetylesterase and immune signalling pathways.
  10. Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease.
    Title: Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease in a Polish population.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autoimmune disease, susceptibility to, 6
MedGen: C3150797 OMIM: 613551 GeneReviews: Not available
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EBI GWAS Catalog

Description
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
EBI GWAS Catalog
Genetic determinants influencing human serum metabolome among African Americans.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC87009

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables sialate 4-O-acetylesterase activity IEA
Inferred from Electronic Annotation
more info
  
enables sialate 9-O-acetylesterase activity IEA
Inferred from Electronic Annotation
more info
  
enables sialate O-acetylesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables sialate O-acetylesterase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in carbohydrate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in carbohydrate metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of immune system process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in extracellular space HDA PubMed 
located_in lysosome IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
sialate O-acetylesterase
Names
H-Lse
cytosolic sialic acid 9-O-acetylesterase homolog
sialic acid-specific acetylesterase II
NP_001186851.1
NP_733746.1
XP_047283088.1
XP_047283089.1
XP_054225127.1
XP_054225128.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028132.2 RefSeqGene

    Range
    7564..48190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199922.2 → NP_001186851.1  sialate O-acetylesterase isoform 2

    See identical proteins and their annotated locations for NP_001186851.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting protein (isoform 2) has a distinct N-terminus. Isoform 2, also referred to as Cse, is the cytosolic form of the protein.
    Source sequence(s)
    AF300796, AP001524
    Consensus CDS
    CCDS55795.1
    UniProtKB/Swiss-Prot
    Q9HAT2
    Related
    ENSP00000478211.1, ENST00000618733.4
    Conserved Domains (1) summary
    pfam03629
    Location:83 → 359
    DUF303; Domain of unknown function (DUF303)

  2. NM_170601.5 → NP_733746.1  sialate O-acetylesterase isoform 1 precursor

    See identical proteins and their annotated locations for NP_733746.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer protein (isoform 1). Isoform 1, also referred to as Lse, is the lysosomal form of the protein.
    Source sequence(s)
    AA938533, AP001524, BC068450, CA778291, DB027544
    Consensus CDS
    CCDS8449.1
    UniProtKB/Swiss-Prot
    B3KPB0, Q8IUT9, Q9HAT2, Q9HAU7, Q9NT71
    Related
    ENSP00000263593.3, ENST00000263593.8
    Conserved Domains (1) summary
    pfam03629
    Location:118 → 302
    SASA; Carbohydrate esterase, sialic acid-specific acetylesterase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    124633113..124676303 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047427132.1 → XP_047283088.1  sialate O-acetylesterase isoform X1

  2. XM_047427133.1 → XP_047283089.1  sialate O-acetylesterase isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    124661771..124704961 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369152.1 → XP_054225127.1  sialate O-acetylesterase isoform X1

  2. XM_054369153.1 → XP_054225128.1  sialate O-acetylesterase isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_018978.1: Suppressed sequence

    Description
    NM_018978.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HAT2.1 GenPept UniProtKB/Swiss-Prot:Q9HAT2

Gene LinkOut

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