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    SIAE sialic acid acetylesterase [ Homo sapiens (human) ]

    Gene ID: 54414, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See SIAE in Genome Data Viewer
    Location:
    11q24.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (124633113..124676303, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (124661771..124704961, complement)
    RS_2024_09 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. A Gene Encoding Sialic-Acid-Specific 9-O-Acetylesterase Found in Human Adult Testis. Zhu H, et al. J Biomed Biotechnol, 2004. PMID 15292578, Free PMC Article
    2. Transcriptional profiling of human placentas from pregnancies complicated by preeclampsia reveals disregulation of sialic acid acetylesterase and immune signalling pathways. Tsai S, et al. Placenta, 2011 Feb. PMID 21183218, Free PMC Article
    3. Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease in a Polish population. Szymański K, et al. Tissue Antigens, 2011 Sep. PMID 21615338
    4. SIAE Rare Variants in Juvenile Idiopathic Arthritis and Primary Antibody Deficiencies. Sevdali E, et al. J Immunol Res, 2017. PMID 28900629, 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 (36) 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
    		Compare labs

    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)

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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