Human Gene NEU1 (ENST00000375631.5) from GENCODE V44
  Description: Homo sapiens neuraminidase 1 (NEU1), mRNA. (from RefSeq NM_000434)
RefSeq Summary (NM_000434): The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000375631.5
Gencode Gene: ENSG00000204386.12
Transcript (Including UTRs)
   Position: hg38 chr6:31,857,659-31,862,821 Size: 5,163 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr6:31,859,719-31,862,776 Size: 3,058 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:31,857,659-31,862,821)mRNA (may differ from genome)Protein (415 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NEUR1_HUMAN
DESCRIPTION: RecName: Full=Sialidase-1; EC=3.2.1.18; AltName: Full=Acetylneuraminyl hydrolase; AltName: Full=G9 sialidase; AltName: Full=Lysosomal sialidase; AltName: Full=N-acetyl-alpha-neuraminidase 1; Flags: Precursor;
FUNCTION: Catalyzes the removal of sialic acid (N-acetylneuramic acid) moities from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage.
CATALYTIC ACTIVITY: Hydrolysis of alpha-(2->3)-, alpha-(2->6)-, alpha-(2->8)- glycosidic linkages of terminal sialic acid residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates.
BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is 4.6;
SUBUNIT: Interacts with cathepsin A (protective protein), beta- galactosidase and N-acetylgalactosamine-6-sulfate sulfatase in a multienzyme complex.
SUBCELLULAR LOCATION: Lysosome membrane; Peripheral membrane protein; Lumenal side. Lysosome lumen. Cell membrane. Cytoplasmic vesicle. Note=Localized not only on the inner side of the lysosomal membrane and in the lysosomal lumen, but also on the plasma membrane and in intracellular vesicles.
TISSUE SPECIFICITY: Highly expressed in pancreas, followed by skeletal muscle, kidney, placenta, heart, lung and liver. Weakly expressed in brain.
DOMAIN: A C-terminal internalization signal (YGTL) appears to allow the targeting of plasma membrane proteins to endosomes.
PTM: N-glycosylated.
PTM: Phosphorylation of tyrosine within the internalization signal results in inhibition of sialidase internalization and blockage on the plasma membrane.
DISEASE: Defects in NEU1 are the cause of sialidosis (SIALIDOSIS) [MIM:256550]. It is a lysosomal storage disease occurring as two types with various manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome or normosomatic type) is late-onset and it is characterized by the formation of cherry red macular spots in childhood, progressive debilitating myoclonus, insiduous visual loss and rarely ataxia. The diagnosis can be confirmed by the screening of the urine for sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic type) occurs as several variants of increasing severity with earlier age of onset. It is characterized by the presence of abnormal somatic features including coarse facies and dysostosis multiplex, vertebral deformities, mental retardation, cherry-red spot/myoclonus, sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone marrow cells and conjunctival epithelial cells.
SIMILARITY: Belongs to the glycosyl hydrolase 33 family.
SIMILARITY: Contains 4 BNR repeats.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NEU1";
WEB RESOURCE: Name=Wikipedia; Note=Neuraminidase entry; URL="http://en.wikipedia.org/wiki/Neuraminidase";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NEU1
Diseases sorted by gene-association score: sialidosis, type i* (1680), glycoproteinosis* (430), hydrops fetalis, nonimmune* (414), juvenile sialidosis type 2* (350), congenital sialidosis type 2* (350), parainfluenza virus type 3 (19), myoclonus (19), newcastle disease (18), gangliosidosis gm1 (17), lysosomal storage disease (16), galactosialidosis (13), swine influenza (11), sialuria (11), mucopolysaccharidosis iv (9), tay-sachs disease (9), pasteurellosis (7), sheehan syndrome (7), cholera (7), gas gangrene (6), congenital disorder of glycosylation, type ia (6), avian influenza (6), respiratory syncytial virus infectious disease (5), hypoparathyroidism, sensorineural deafness, and renal dysplasia (5), mucolipidosis ii alpha/beta (4), dysostosis (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 52.43 RPKM in Adrenal Gland
Total median expression: 962.38 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.7045-0.416 Picture PostScript Text
3' UTR -874.302060-0.424 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011040 - Neuraminidase
IPR026942 - Sialidase-1
IPR026856 - Sialidase_fam

ModBase Predicted Comparative 3D Structure on Q99519
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004308 exo-alpha-sialidase activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0016798 hydrolase activity, acting on glycosyl bonds
GO:0016997 alpha-sialidase activity
GO:0052794 exo-alpha-(2->3)-sialidase activity
GO:0052795 exo-alpha-(2->6)-sialidase activity
GO:0052796 exo-alpha-(2->8)-sialidase activity

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006629 lipid metabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0006689 ganglioside catabolic process
GO:0008152 metabolic process
GO:0009313 oligosaccharide catabolic process
GO:0016042 lipid catabolic process
GO:0043312 neutrophil degranulation

Cellular Component:
GO:0005576 extracellular region
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030054 cell junction
GO:0031410 cytoplasmic vesicle
GO:0035580 specific granule lumen
GO:0043202 lysosomal lumen
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AB209011 - Homo sapiens mRNA for neuraminidase precursor variant protein.
JD388292 - Sequence 369316 from Patent EP1572962.
JD321107 - Sequence 302131 from Patent EP1572962.
JD147512 - Sequence 128536 from Patent EP1572962.
JD174058 - Sequence 155082 from Patent EP1572962.
JD324413 - Sequence 305437 from Patent EP1572962.
JD041364 - Sequence 22388 from Patent EP1572962.
JD169344 - Sequence 150368 from Patent EP1572962.
JD529220 - Sequence 510244 from Patent EP1572962.
JD557377 - Sequence 538401 from Patent EP1572962.
JD430198 - Sequence 411222 from Patent EP1572962.
JD430335 - Sequence 411359 from Patent EP1572962.
JD179973 - Sequence 160997 from Patent EP1572962.
JD201294 - Sequence 182318 from Patent EP1572962.
JD472106 - Sequence 453130 from Patent EP1572962.
JD373280 - Sequence 354304 from Patent EP1572962.
JD515573 - Sequence 496597 from Patent EP1572962.
JD047612 - Sequence 28636 from Patent EP1572962.
JD238369 - Sequence 219393 from Patent EP1572962.
BC000722 - Homo sapiens sialidase 1 (lysosomal sialidase), mRNA (cDNA clone MGC:1553 IMAGE:3506824), complete cds.
X78687 - H.sapiens G9 gene encoding sialidase.
AF040958 - Homo sapiens lysosomal neuraminidase precursor, mRNA, complete cds.
BC011900 - Homo sapiens sialidase 1 (lysosomal sialidase), mRNA (cDNA clone MGC:20282 IMAGE:4101695), complete cds.
JD363478 - Sequence 344502 from Patent EP1572962.
U84246 - Homo sapiens lysosomal sialidase mRNA, complete cds.
JD091943 - Sequence 72967 from Patent EP1572962.
AF466766 - Homo sapiens CTL4/NEU1 fusion protein (CTL4/NEU1 fusion) mRNA, complete cds.
AK290966 - Homo sapiens cDNA FLJ78216 complete cds, highly similar to Homo sapiens lysosomal neuraminidase precursor, mRNA.
JD353444 - Sequence 334468 from Patent EP1572962.
JD342743 - Sequence 323767 from Patent EP1572962.
JD047201 - Sequence 28225 from Patent EP1572962.
JD157879 - Sequence 138903 from Patent EP1572962.
JD422971 - Sequence 403995 from Patent EP1572962.
JD189187 - Sequence 170211 from Patent EP1572962.
AK313006 - Homo sapiens cDNA, FLJ93471, Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.
KJ891690 - Synthetic construct Homo sapiens clone ccsbBroadEn_01084 NEU1 gene, encodes complete protein.
KR709807 - Synthetic construct Homo sapiens clone CCSBHm_00006227 NEU1 (NEU1) mRNA, encodes complete protein.
KR709808 - Synthetic construct Homo sapiens clone CCSBHm_00006229 NEU1 (NEU1) mRNA, encodes complete protein.
KR709809 - Synthetic construct Homo sapiens clone CCSBHm_00006235 NEU1 (NEU1) mRNA, encodes complete protein.
KR709810 - Synthetic construct Homo sapiens clone CCSBHm_00006248 NEU1 (NEU1) mRNA, encodes complete protein.
BT007206 - Homo sapiens sialidase 1 (lysosomal sialidase) mRNA, complete cds.
DQ890716 - Synthetic construct clone IMAGE:100003346; FLH165405.01X; RZPDo839B11160D sialidase 1 (lysosomal sialidase) (NEU1) gene, encodes complete protein.
DQ892186 - Synthetic construct clone IMAGE:100004816; FLH183808.01X; RZPDo839G10142D sialidase 1 (lysosomal sialidase) (NEU1) gene, encodes complete protein.
DQ893896 - Synthetic construct Homo sapiens clone IMAGE:100008356; FLH165401.01L; RZPDo839B11159D sialidase 1 (lysosomal sialidase) (NEU1) gene, encodes complete protein.
DQ895380 - Synthetic construct Homo sapiens clone IMAGE:100009840; FLH183804.01L; RZPDo839G10141D sialidase 1 (lysosomal sialidase) (NEU1) gene, encodes complete protein.
CR541916 - Homo sapiens full open reading frame cDNA clone RZPDo834F0733D for gene NEU1, sialidase 1 (lysosomal sialidase); complete cds, without stopcodon.
CR456717 - Homo sapiens full open reading frame cDNA clone RZPDo834E0511D for gene NEU1, sialidase 1 (lysosomal sialidase); complete cds, incl. stopcodon.
CU674360 - Synthetic construct Homo sapiens gateway clone IMAGE:100017213 5' read NEU1 mRNA.
JD142102 - Sequence 123126 from Patent EP1572962.
JD391605 - Sequence 372629 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00511 - Other glycan degradation
hsa00600 - Sphingolipid metabolism
hsa04142 - Lysosome

Reactome (by CSHL, EBI, and GO)

Protein Q99519 (Reactome details) participates in the following event(s):

R-HSA-6798749 Exocytosis of specific granule lumen proteins
R-HSA-1605724 Neu5Ac is cleaved from GM3 by NEU1 and 4 to form a globoside (lysosomal lumen)
R-HSA-4084999 NEU1,4 hydrolyses Neu5Ac from glycoconjugates
R-HSA-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-1660662 Glycosphingolipid metabolism
R-HSA-4085001 Sialic acid metabolism
R-HSA-168256 Immune System
R-HSA-428157 Sphingolipid metabolism
R-HSA-446219 Synthesis of substrates in N-glycan biosythesis
R-HSA-556833 Metabolism of lipids
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-1430728 Metabolism
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000375631.1, ENST00000375631.2, ENST00000375631.3, ENST00000375631.4, NANH, NEUR1_HUMAN, NM_000434, Q99519, uc003nxq.1, uc003nxq.2, uc003nxq.3, uc003nxq.4, uc003nxq.5, uc003nxq.6
UCSC ID: ENST00000375631.5
RefSeq Accession: NM_000434
Protein: Q99519 (aka NEUR1_HUMAN or NER1_HUMAN)
CCDS: CCDS4723.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.