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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

See SIAE in Genome Data Viewer
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)

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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_001199922.2NP_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.