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    NEU4 neuraminidase 4 [ Homo sapiens (human) ]

    Gene ID: 129807, updated on 5-Mar-2024

    Summary

    Official Symbol
    NEU4provided by HGNC
    Official Full Name
    neuraminidase 4provided by HGNC
    Primary source
    HGNC:HGNC:21328
    See related
    Ensembl:ENSG00000204099 MIM:608527; AllianceGenome:HGNC:21328
    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
    Summary
    The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2009]
    Expression
    Biased expression in colon (RPKM 9.5), liver (RPKM 4.5) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NEU4 in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (241809193..241817413)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (242310986..242319206)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (242750288..242758739)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12558 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17431 Neighboring gene D-2-hydroxyglutarate dehydrogenase Neighboring gene MPRA-validated peak4107 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242703699-242704312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242710178-242711090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242714429-242715049 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242716291-242716911 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242716912-242717532 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242717533-242718152 Neighboring gene galactose-3-O-sulfotransferase 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:242727152-242728351 Neighboring gene CEB1 minisatellite repeat instability region Neighboring gene uncharacterized LOC124905349 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242776389-242776889 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:242784078-242784237 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242784841-242785538 Neighboring gene uncharacterized LOC124905350 Neighboring gene uncharacterized LOC105373977 Neighboring gene programmed cell death 1

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ35928, MGC18222, MGC102757

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables exo-alpha-(2->3)-sialidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables exo-alpha-(2->6)-sialidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables exo-alpha-(2->8)-sialidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables exo-alpha-sialidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables exo-alpha-sialidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables exo-alpha-sialidase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ganglioside catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ganglioside catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glycoprotein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in oligosaccharide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in oligosaccharide catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    NOT located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuron projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in organelle inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    sialidase-4
    Names
    N-acetyl-alpha-neuraminidase 4
    neuraminidase 4 (sialidase)
    NP_001161071.1
    NP_001161072.1
    NP_001161073.1
    NP_001161074.1
    NP_542779.2

    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.

    mRNA and Protein(s)

    1. NM_001167599.3NP_001161071.1  sialidase-4 isoform 2

      See identical proteins and their annotated locations for NP_001161071.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate acceptor splice site at one of the coding exons compared to variant 1, resulting in an isoform (2) that is 1 aa longer than isoform 1.
      Source sequence(s)
      AC131097, AK091038, BC063465, DB173219
      Consensus CDS
      CCDS54441.1
      UniProtKB/TrEMBL
      A8K211, Q3KR05
      Related
      ENSP00000320318.6, ENST00000325935.10
      Conserved Domains (1) summary
      cd15482
      Location:23469
      Sialidase_non-viral; Non-viral sialidases
    2. NM_001167600.3NP_001161072.1  sialidase-4 isoform 3

      See identical proteins and their annotated locations for NP_001161072.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate exon at the 5' end compared to variant 1, resulting in translation initiation from an in-frame downstream AUG, and an isoform (3, also known as NEU4 short) with a shorter N-terminus compared to isoform 1. Variants 3-5 encode the same isoform.
      Source sequence(s)
      AC131097, AK289421, BC063465
      Consensus CDS
      CCDS54442.1
      UniProtKB/Swiss-Prot
      A8K056, J3KNJ5, Q8WWR8, Q96D64
      UniProtKB/TrEMBL
      A8K211, B3KR54, Q3KR05
      Related
      ENSP00000385402.1, ENST00000407683.6
      Conserved Domains (1) summary
      cd15482
      Location:10456
      Sialidase_non-viral; Non-viral sialidases
    3. NM_001167601.3NP_001161073.1  sialidase-4 isoform 3

      See identical proteins and their annotated locations for NP_001161073.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon at the 5' end and uses an alternate acceptor splice site at the next exon compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and an isoform (3, also known as NEU4 short) with a shorter N-terminus compared to isoform 1. Variants 3-5 encode the same isoform.
      Source sequence(s)
      AC131097, AY203952, BC063465, DC412650
      Consensus CDS
      CCDS54442.1
      UniProtKB/Swiss-Prot
      A8K056, J3KNJ5, Q8WWR8, Q96D64
      UniProtKB/TrEMBL
      A8K211, B3KR54, Q3KR05
      Related
      ENSP00000384804.1, ENST00000405370.5
      Conserved Domains (1) summary
      cd15482
      Location:10456
      Sialidase_non-viral; Non-viral sialidases
    4. NM_001167602.3NP_001161074.1  sialidase-4 isoform 3

      See identical proteins and their annotated locations for NP_001161074.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an additional exon at the 5' end compared to variant 1, resulting in translation initiation from an in-frame downstream AUG, and an isoform (3, also known as NEU4 short) with a shorter N-terminus compared to isoform 1. Variants 3-5 encode the same isoform.
      Source sequence(s)
      AC131097, AK091038, BC063465
      Consensus CDS
      CCDS54442.1
      UniProtKB/Swiss-Prot
      A8K056, J3KNJ5, Q8WWR8, Q96D64
      UniProtKB/TrEMBL
      A8K211, B3KR54, Q3KR05
      Related
      ENSP00000375830.2, ENST00000391969.6
      Conserved Domains (1) summary
      cd15482
      Location:10456
      Sialidase_non-viral; Non-viral sialidases
    5. NM_080741.4NP_542779.2  sialidase-4 isoform 1

      See identical proteins and their annotated locations for NP_542779.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1 (also known as NEU4 long).
      Source sequence(s)
      AC131097, BC063465, BC117214
      Consensus CDS
      CCDS2553.1
      UniProtKB/TrEMBL
      A8K211, Q3KR05
      Related
      ENSP00000385149.1, ENST00000404257.5
      Conserved Domains (1) summary
      cd15482
      Location:22468
      Sialidase_non-viral; Non-viral sialidases

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      241809193..241817413
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187527.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      21291..29511
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      242310986..242319206
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)