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    SIAE sialic acid acetylesterase [ Homo sapiens (human) ]

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

    Summary

    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

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    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)

    NEW Try the new Transcript table

    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_001199922.2NP_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:83359
      DUF303; Domain of unknown function (DUF303)
    2. NM_170601.5NP_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:118302
      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_047427132.1XP_047283088.1  sialate O-acetylesterase isoform X1

    2. XM_047427133.1XP_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_054369152.1XP_054225127.1  sialate O-acetylesterase isoform X1

    2. XM_054369153.1XP_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.