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Aliases for NPL Gene

Aliases for NPL Gene

  • N-Acetylneuraminate Pyruvate Lyase (Dihydrodipicolinate Synthase) 2 3 5
  • N-Acetylneuraminic Acid Aldolase 3 4
  • Sialate-Pyruvate Lyase 3 4
  • Sialic Acid Aldolase 3 4
  • EC 4.1.3.3 4 63
  • C1orf13 3 4
  • NALase 3 4
  • Dihydrodipicolinate Synthetase Homolog 1 (E. Coli) 2
  • Dihydrodipicolinate Synthetase Homolog 1 3
  • Chromosome 1 Open Reading Frame 13 2
  • N-Acetylneuraminate Pyruvate-Lyase 4
  • 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 (Dihydrodipicolinate Synthase)) is a Protein Coding gene. Diseases associated with NPL include withdrawal disorder. Among its related pathways are Transport to the Golgi and subsequent modification and Synthesis of substrates in N-glycan biosythesis. 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 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPL Gene

Genomics for NPL Gene

Regulatory Elements for NPL Gene

Promoters for NPL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NPL on UCSC Golden Path with GeneCards custom track

Genomic Location for NPL Gene

Chromosome:
1
Start:
182,789,293 bp from pter
End:
182,830,384 bp from pter
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 StructureGene Density

RefSeq DNA sequence for NPL Gene

Proteins for NPL Gene

  • 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.
    SequenceCaution:
    • Sequence=BC042003; Type=Frameshift; Positions=213; Evidence={ECO:0000305};

    Alternative splice isoforms for NPL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NPL Gene

Proteomics data for NPL Gene at MOPED

Selected DME Specific Peptides for NPL Gene

Post-translational modifications for NPL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for NPL Gene

Protein Domains for NPL Gene

Suggested Antigen Peptide Sequences for NPL Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for NPL Gene

Function for NPL Gene

Molecular function for NPL Gene

UniProtKB/Swiss-Prot CatalyticActivity:
N-acetylneuraminate = N-acetyl-D-mannosamine + pyruvate.
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).

Enzyme Numbers (IUBMB) for NPL Gene

Gene Ontology (GO) - Molecular Function for NPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008747 N-acetylneuraminate lyase activity TAS --
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

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
Jensen Localization Image for NPL Gene COMPARTMENTS Subcellular localization image for NPL gene
Compartment Confidence
cytosol 5
plasma membrane 3
extracellular 2
mitochondrion 2
nucleus 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for NPL Gene

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:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0008152 metabolic process IEA --
GO:0019262 N-acetylneuraminate catabolic process TAS 22692205
GO:0043687 post-translational protein modification TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyruvic acid Approved Nutra 0

(5) Additional Compounds for NPL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetylmannosamine
  • 2-Acetamido-2-deoxy-D-mannopyranose
  • 2-Acetamido-2-deoxy-D-mannose
  • ManNAc
  • N-Acetyl-D-mannosamine
  • N-Acetylmannosamine
3615-17-6
N-Acetylneuraminic acid
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-b-D-galacto-2-Nonulopyranosonate
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-b-D-galacto-2-Nonulopyranosonic acid
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-D-galacto-2-Nonulosonate
  • 5-(Acetylamino)-3,5-dideoxy-D-glycero-D-galacto-2-Nonulosonic acid
  • 5-(Acetylamino)-3,5-dideoxy-delta-glycero-beta-delta-galacto-2-Nonulopyranosonate
131-48-6
genes like me logo Genes that share compounds with NPL: view

Transcripts for NPL Gene

Unigene Clusters for NPL Gene

N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase):
Representative Sequences:

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
ECgene alternative splicing isoforms for
NPL

Expression for NPL Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for NPL Gene



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.
genes like me logo Genes that share expression patterns with NPL: view

Protein tissue co-expression partners for NPL Gene

Primer Products

In Situ Assay Products

Orthologs for NPL Gene

This gene was present in the common ancestor of animals.

Orthologs for NPL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NPL 35
  • 91.04 (n)
  • 92.81 (a)
NPL 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NPL 35
  • 92.81 (n)
  • 92.81 (a)
NPL 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Npl 35
  • 86.2 (n)
  • 86.94 (a)
Npl 16
Npl 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NPL 35
  • 99.74 (n)
  • 100 (a)
NPL 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Npl 35
  • 86.77 (n)
  • 88.44 (a)
oppossum
(Monodelphis domestica)
Mammalia NPL 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NPL 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves NPL 35
  • 72.44 (n)
  • 71.33 (a)
NPL 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NPL 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia npl 35
  • 59.87 (n)
  • 55.92 (a)
Str.15362 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.20048 35
zebrafish
(Danio rerio)
Actinopterygii npl 35
  • 61.43 (n)
  • 58.93 (a)
wufb53b06 35
npl 36
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007700 35
  • 46.08 (n)
  • 30.88 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6693 36
  • 46 (a)
OneToOne
Species with no ortholog for NPL:
  • 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)

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

Sequence variations from dbSNP and Humsavar for NPL Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs599828 -- 182,806,920(-) cagag(G/T)ttgca intron-variant
rs635499 -- 182,800,382(+) agtga(A/G)ccgtg intron-variant
rs971040 -- 182,809,232(-) TACTC(C/T)GTCTA intron-variant
rs950869 -- 182,827,868(-) CCTAA(C/T)GTTCA intron-variant
rs950870 -- 182,827,620(-) AAAAA(A/T)ATATA intron-variant

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

Variant ID Type Subtype PubMed ID
esv26933 CNV Loss 19812545
esv2665632 CNV Deletion 23128226
nsv159118 CNV Loss 16902084

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)

Relevant External Links for NPL Gene

HapMap Linkage Disequilibrium report
NPL
Human Gene Mutation Database (HGMD)
NPL

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

Disorders for NPL Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
withdrawal disorder
  • withdrawal syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NPL in MalaCards View complete list of genes associated with diseases

Relevant External Links for NPL

Genetic Association Database (GAD)
NPL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NPL
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. 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 J.D. (Genomics 2001) 2 3 4 67
  2. 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 Seq. 2005) 3 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. 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 A.K. … Varki A. (J. Biol. Chem. 2012) 3

Products for NPL Gene

Sources for NPL Gene

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