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NEU4 neuraminidase 4 [ Homo sapiens (human) ]

Gene ID: 129807, updated on 18-Aug-2020

Summary

Official Symbol
NEU4provided by HGNC
Official Full Name
neuraminidase 4provided by HGNC
Primary source
HGNC:HGNC:21328
See related
Ensembl:ENSG00000204099 MIM:608527
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

Genomic context

See NEU4 in Genome Data Viewer
Location:
2q37.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (241809193..241817413)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (242749920..242758742)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373976 Neighboring gene galactose-3-O-sulfotransferase 2 Neighboring gene CEB1 minisatellite repeat instability region Neighboring gene uncharacterized LOC107986004 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

Homology

Clone Names

  • FLJ35928, MGC18222, MGC102757

Gene Ontology Provided by GOA

Function Evidence Code Pubs
exo-alpha-(2->3)-sialidase activity IEA
Inferred from Electronic Annotation
more info
 
exo-alpha-(2->6)-sialidase activity IEA
Inferred from Electronic Annotation
more info
 
exo-alpha-(2->8)-sialidase activity IEA
Inferred from Electronic Annotation
more info
 
exo-alpha-sialidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
exo-alpha-sialidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ganglioside catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ganglioside catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
glycoprotein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
 
oligosaccharide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oligosaccharide catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
NOT lysosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
organelle inner membrane IDA
Inferred from Direct Assay
more info
PubMed 

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)

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/Swiss-Prot
    Q8WWR8
    UniProtKB/TrEMBL
    B3KR54
    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
    Q8WWR8
    UniProtKB/TrEMBL
    B3KR54
    Related
    ENSP00000385402.1, ENST00000407683.5
    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
    Q8WWR8
    UniProtKB/TrEMBL
    B3KR54
    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
    Q8WWR8
    UniProtKB/TrEMBL
    B3KR54
    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/Swiss-Prot
    Q8WWR8
    UniProtKB/TrEMBL
    Q3KR05
    Related
    ENSP00000385149.1, ENST00000404257.5
    Conserved Domains (1) summary
    cd15482
    Location:22468
    Sialidase_non-viral; Non-viral sialidases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187527.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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