NPL Gene (Protein Coding)

N-Acetylneuraminate Pyruvate Lyase

GC01P182758
GIFtS:
39
This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternat... See more...

Aliases for NPL Gene

Aliases for NPL Gene

  • N-Acetylneuraminate Pyruvate Lyase 2 3 5
  • N-Acetylneuraminate Pyruvate Lyase (Dihydrodipicolinate Synthase) 2 3
  • N-Acetylneuraminic Acid Aldolase 3 4
  • N-Acetylneuraminate Lyase 3 4
  • Sialate-Pyruvate Lyase 3 4
  • Sialic Acid Aldolase 3 4
  • EC 4.1.3.3 4 52
  • C1orf13 3 4
  • NALase 3 4
  • Dihydrodipicolinate Synthetase Homolog 1 (E. Coli) 2
  • Dihydrodipicolinate Synthetase Homolog 1 3
  • N-Acetylneuraminate Pyruvate-Lyase 4
  • Chromosome 1 Open Reading Frame 13 2
  • Sialic Acid Lyase 4
  • Sialate Lyase 4
  • C112 3
  • NPL1 3
  • NAL 3

External Ids for NPL Gene

Previous HGNC Symbols for NPL Gene

  • C1orf13

Previous GeneCards Identifiers for NPL Gene

  • GC01P179278
  • GC01P180000
  • GC01P179493
  • GC01P181025
  • GC01P153997

Summaries for NPL Gene

Entrez Gene Summary for NPL Gene

  • This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

GeneCards Summary for NPL Gene

NPL (N-Acetylneuraminate Pyruvate Lyase) is a Protein Coding gene. Diseases associated with NPL include Type 1 Diabetes Mellitus 6 and Hereditary Lymphedema I. Among its related pathways are Metabolism of proteins and Amino sugar and nucleotide sugar metabolism. Gene Ontology (GO) annotations related to this gene include lyase activity and N-acetylneuraminate lyase activity. An important paralog of this gene is HOGA1.

UniProtKB/Swiss-Prot Summary for NPL Gene

  • Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine via a Schiff base intermediate. It prevents sialic acids from being recycled and returning to the cell surface. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded (By similarity).

Additional gene information for NPL Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NPL Gene

Genomics for NPL Gene

GeneHancer (GH) Regulatory Elements for NPL Gene

Promoters and enhancers for NPL Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J182789 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 505.2 +1.2 1208 3.4 HNRNPK ZBTB40 ZNF217 EP300 TCF12 MYC NRF1 USF1 GTF2E2 SIX5 NPL KRT18P28 LAMC1-AS1 HSALNG0008944
GH01J182587 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 -200.5 -200492 2.4 SIN3A NRF1 POLR2A AFF1 TRIM28 CTBP1 MYC ZNF341 NFRKB DEK RNASEL NPL DHX9 ENSG00000276839
GH01J182084 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 9.6 -702.6 -702593 6.6 CTCF ZIC2 ZNF263 RFX1 REST CTBP1 RAD21 TRIM22 ZBTB26 SMC3 ENSG00000225982 GLUL DHX9 HMGN1P4 TEDDM1 RNASEL RGSL1 NPL LOC105371642
GH01J182622 Enhancer 0.9 ENCODE dbSUPER 10.6 -165.7 -165667 2.7 SP1 EP300 RFX1 RELA MEF2C BCL11A TCF12 CBFB ZNF207 MEF2B NPL LINC01686 lnc-RGS8-6
GH01J182594 Enhancer 0.9 Ensembl ENCODE 11.3 -194.6 -194592 3 CTCF REST RAD21 MYC TRIM22 SMC3 MXI1 ZNF184 IRF1 EZH2 lnc-RGSL1-4 RNASEL NPL RGSL1 DHX9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NPL on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NPL

Top Transcription factor binding sites by QIAGEN in the NPL gene promoter:
  • AML1a
  • AP-1
  • c-Fos
  • c-Jun
  • c-Rel
  • FOXO4
  • Msx-1
  • S8

Genomic Locations for NPL Gene

Genomic Locations for NPL Gene
chr1:182,789,293-182,830,384
(GRCh38/hg38)
Size:
41,092 bases
Orientation:
Plus strand
chr1:182,758,428-182,799,519
(GRCh37/hg19)
Size:
41,092 bases
Orientation:
Plus strand

Genomic View for NPL Gene

Genes around NPL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPL Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NPL Gene

Proteins for NPL Gene

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  2. Protein
  3. Assay

  • Protein details for NPL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXD5-NPL_HUMAN
    Recommended name:
    N-acetylneuraminate lyase
    Protein Accession:
    Q9BXD5
    Secondary Accessions:
    • B2R839
    • Q4G0Q8
    • Q4G0Z2
    • Q64L88
    • Q6PEL0

    Protein attributes for NPL Gene

    Size:
    320 amino acids
    Molecular mass:
    35163 Da
    Quaternary structure:
    • Homotetramer.
    Miscellaneous:
    • [Isoform 5]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    SequenceCaution:
    • Sequence=BC042003; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NPL Gene

    Alternative splice isoforms for NPL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NPL Gene

Protein Expression for NPL Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for NPL Gene

Q9BXD5:
  • GAVGSTYNYLG
  • KFSDTDLLD
  • AEAKLKSLDFLS
  • PKKKLQGLVAATITPMTE
  • LFGVDEQLLSALV
  • PMGPPRLPL

Post-translational modifications for NPL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NPL Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for NPL Gene

Gene Families for NPL Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for NPL Gene

Blocks:
  • Dihydrodipicolinate synthetase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NPL Gene

GenScript: Design optimal peptide antigens:
  • Sialic acid lyase (NPL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BXD5

UniProtKB/Swiss-Prot:

NPL_HUMAN :
  • Belongs to the DapA family. NanA subfamily.
Family:
  • Belongs to the DapA family. NanA subfamily.
genes like me logo Genes that share domains with NPL: view

Function for NPL Gene

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  1. Animal Model
  2. CRISPR
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Molecular function for NPL Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine via a Schiff base intermediate. It prevents sialic acids from being recycled and returning to the cell surface. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=N-acetylneuraminate = N-acetyl-D-mannosamine + pyruvate; Xref=Rhea:RHEA:23296, ChEBI:CHEBI:15361, ChEBI:CHEBI:17122, ChEBI:CHEBI:35418; EC=4.1.3.3;.

Enzyme Numbers (IUBMB) for NPL Gene

Phenotypes From GWAS Catalog for NPL Gene

Gene Ontology (GO) - Molecular Function for NPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008747 N-acetylneuraminate lyase activity ISS --
GO:0016829 lyase activity IEA --
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with NPL: view
genes like me logo Genes that share phenotypes with NPL: view

Animal Model Products

  • Taconic Biosciences Mouse Models for NPL

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPL

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NPL Gene

Localization for NPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPL Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NPL gene
Compartment Confidence
cytosol 5
plasma membrane 3
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NPL: view

Pathways & Interactions for NPL Gene

genes like me logo Genes that share pathways with NPL: view

UniProtKB/Swiss-Prot Q9BXD5-NPL_HUMAN

  • Pathway: Amino-sugar metabolism; N-acetylneuraminate degradation.

Gene Ontology (GO) - Biological Process for NPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0019262 N-acetylneuraminate catabolic process TAS 22692205
genes like me logo Genes that share ontologies with NPL: view

No data available for SIGNOR curated interactions for NPL Gene

Drugs & Compounds for NPL Gene

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  1. Drug

(7) Drugs for NPL Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyruvic acid Approved, Investigational Nutra 0
Aceneuramic acid Investigational Pharma 0
N-acetylmannosamine Investigational Pharma 0

(2) Additional Compounds for NPL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NPL: view

Transcripts for NPL Gene

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mRNA/cDNA for NPL Gene

5 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPL

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NPL Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b
SP1: - - - -
SP2: - - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - -
SP6: - - - - - - - - - - - -
SP7:
SP8: - -
SP9: -
SP10:

Relevant External Links for NPL Gene

GeneLoc Exon Structure for
NPL

Expression for NPL Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NPL Gene

mRNA expression in normal human tissues for NPL Gene
mRNA expression by BioGPS for NPL GenemRNA expression by GTEx for NPL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NPL Gene

This gene is overexpressed in Whole Blood (x14.5).

Protein differential expression in normal tissues from HIPED for NPL Gene

This gene is overexpressed in Spleen (20.6), Lymph node (10.9), and Lung (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NPL Gene



Protein tissue co-expression partners for NPL Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NPL

SOURCE GeneReport for Unigene cluster for NPL Gene:

Hs.496969

mRNA Expression by UniProt/SwissProt for NPL Gene:

Q9BXD5-NPL_HUMAN
Tissue specificity: Isoform 2 is expressed in placenta, liver, kidney, pancreas, spleen, thymus, ovary, small intestine and peripheral blood leukocyte.

Evidence on tissue expression from TISSUES for NPL Gene

  • Nervous system(4.6)
  • Kidney(4.4)
  • Blood(2.6)
  • Lung(2.5)
  • Heart(2.3)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with NPL: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NPL Gene

Orthologs for NPL Gene

This gene was present in the common ancestor of animals.

Orthologs for NPL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia NPL 31 30
  • 99.74 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia NPL 31 30
  • 92.81 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia NPL 31 30
  • 91.04 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Npl 30
  • 86.77 (n)
mouse
(Mus musculus)
 Mammalia Npl 17 31 30
  • 86.2 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia NPL 31
  • 83 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia NPL 31
  • 75 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves NPL 31 30
  • 72.44 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia NPL 31
  • 68 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia npl 30
  • 59.87 (n)
Str.15362 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.20048 30
zebrafish
(Danio rerio)
 Actinopterygii npl 31 30
  • 61.43 (n)
 OneToOne
wufb53b06 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007700 30
  • 46.08 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.6693 31
  • 46 (a)
 OneToOne
Species where no ortholog for NPL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NPL Gene

ENSEMBL:
Gene Tree for NPL (if available)
TreeFam:
Gene Tree for NPL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NPL: view image

Paralogs for NPL Gene

Paralogs for NPL Gene

Pseudogenes.org Pseudogenes for NPL Gene

genes like me logo Genes that share paralogs with NPL: view

Variants for NPL Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NPL Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs147627214 Uncertain Significance: not specified 182,818,681(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NPL Gene

Structural Variations from Database of Genomic Variants (DGV) for NPL Gene

Variant ID Type Subtype PubMed ID
dgv660n54 CNV loss 21841781
dgv661n54 CNV loss 21841781
esv2665632 CNV deletion 23128226
esv26933 CNV loss 19812545
esv3588106 CNV loss 21293372
nsv159118 CNV deletion 16902084
nsv548358 CNV gain 21841781
nsv548370 CNV loss 21841781

Variation tolerance for NPL Gene

Residual Variation Intolerance Score: 44.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.79; 33.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NPL Gene

Human Gene Mutation Database (HGMD)
NPL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPL Gene

Disorders for NPL Gene

MalaCards: The human disease database

(14) MalaCards diseases for NPL Gene - From: DISEASES

Disorder Aliases PubMed IDs
type 1 diabetes mellitus 6
  • diabetes mellitus, insulin-dependent, 6
hereditary lymphedema i
  • nonne-milroy lymphedema
orofacial cleft 11
  • ofc11
hereditary lymphedema
  • milroy disease
nickel allergic contact dermatitis
  • allergic contact dermatitis to ni
- elite association - COSMIC cancer census association via MalaCards
Search NPL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NPL

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NPL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NPL Gene

Publications for NPL Gene

  1. A novel splice variant of human gene NPL, mainly expressed in human liver, kidney and peripheral blood leukocyte. (PMID: 16147865) Wu M … Mao Y (DNA sequence : the journal of DNA sequencing and mapping 2005) 3 4 23 54
  2. Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus. (PMID: 11318611) Sood R … Carpten JD (Genomics 2001) 2 3 4 54
  3. Metabolism of vertebrate amino sugars with N-glycolyl groups: elucidating the intracellular fate of the non-human sialic acid N-glycolylneuraminic acid. (PMID: 22692205) Bergfeld AK … Varki A (The Journal of biological chemistry 2012) 3 4 54
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

ExternalLinks

View latest publications for NPL gene in Mastermind

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