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NEU4 neuraminidase 4 (sialidase) [ Homo sapiens (human) ]

Gene ID: 129807, updated on 8-May-2016
Official Symbol
NEU4provided by HGNC
Official Full Name
neuraminidase 4 (sialidase)provided by HGNC
Primary source
HGNC:HGNC:21328
See related
Ensembl:ENSG00000204099 HPRD:12249; MIM:608527; Vega:OTTHUMG00000133412
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]
Orthologs
Location:
2q37.3
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (241809065..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 uncharacterized LOC105373977 Neighboring gene programmed cell death 1 Neighboring gene receptor transporter protein 5 (putative)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

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 IDA
Inferred from Direct Assay
more info
PubMed 
exo-alpha-sialidase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
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 IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
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 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
organelle inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
sialidase-4
Names
N-acetyl-alpha-neuraminidase 4
neuraminidase 4
sialidase 4
NP_001161071.1
NP_001161072.1
NP_001161073.1
NP_001161074.1
NP_542779.2

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_001167599.2NP_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, OTTHUMP00000200025, ENST00000325935, OTTHUMT00000322688
    Conserved Domains (1) summary
    cd15482
    Location:23469
    Sialidase_non-viral; Non-viral sialidases
  2. NM_001167600.2NP_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, DC412650
    Consensus CDS
    CCDS54442.1
    UniProtKB/Swiss-Prot
    Q8WWR8
    UniProtKB/TrEMBL
    B3KR54
    Related
    ENSP00000385402, OTTHUMP00000200028, ENST00000407683, OTTHUMT00000322692
    Conserved Domains (1) summary
    cd15482
    Location:10456
    Sialidase_non-viral; Non-viral sialidases
  3. NM_001167601.2NP_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, OTTHUMP00000200026, ENST00000405370, OTTHUMT00000322689
    Conserved Domains (1) summary
    cd15482
    Location:10456
    Sialidase_non-viral; Non-viral sialidases
  4. NM_001167602.2NP_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, OTTHUMP00000164608, ENST00000391969, OTTHUMT00000257270
    Conserved Domains (1) summary
    cd15482
    Location:10456
    Sialidase_non-viral; Non-viral sialidases
  5. NM_080741.3NP_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, OTTHUMP00000164607, ENST00000404257, OTTHUMT00000257269
    Conserved Domains (1) summary
    cd15482
    Location:22468
    Sialidase_non-viral; Non-viral sialidases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

    Range
    241809065..241817413
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p2 ALT_REF_LOCI_1

Genomic

  1. NT_187527.1 Reference GRCh38.p2 ALT_REF_LOCI_1

    Range
    21163..29511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    242756215..242764748
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)