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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
  • Sialate-Pyruvate Lyase 3 4
  • Sialic Acid Aldolase 3 4
  • EC 4.1.3.3 4 61
  • 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
  • N-Acetylneuraminate Lyase 3
  • 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 Diabetes Mellitus, Insulin-Dependent, 6 and Withdrawal Disorder. Among its related pathways are Synthesis of substrates in N-glycan biosythesis and Transport to the Golgi and subsequent modification. 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 CIViC summary , 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

Enhancers for NPL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G182587 1.2 ENCODE dbSUPER 11.3 -200.5 -200515 2.2 HDGF PKNOX1 ATF1 CREB3L1 ARNT SIN3A ZNF2 YY1 ZNF766 FOS RNASEL NPL DHX9 ENSG00000276839
GH01G182084 1.4 Ensembl ENCODE dbSUPER 9.3 -704.3 -704286 1.6 ATF1 FOXA2 RB1 TBL1XR1 ARID4B RAD21 GLIS2 GATA2 SCRT2 ZNF143 HMGN1P4 TEDDM1 GLUL RNASEL RGSL1 NPL ENSG00000225982 ENSG00000224810
GH01G182087 1.2 FANTOM5 ENCODE dbSUPER 9.3 -701.1 -701146 2.1 HDAC1 CTCF ESRRA KLF1 RFX1 NRF1 GABPA GATA3 GATA2 FOS GLUL TEDDM1 RGSL1 NPL ENSG00000225982 LOC105371642
GH01G182622 1 ENCODE dbSUPER 10.6 -165.7 -165668 2.7 HDGF BMI1 RELA EGR1 EED ZNF207 ETV6 RELB IKZF2 ZBTB20 NPL GC01P182625 LINC01686
GH01G182793 1.6 FANTOM5 Ensembl ENCODE 6 +5.8 5810 2.5 PKNOX1 ARNT SIN3A FEZF1 YY1 TCF12 ZNF766 GATA2 ELK1 ZNF263 DHX9 GLUL KRT18P28 RNASEL NPL GC01P182831
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NPL on UCSC Golden Path with GeneCards custom track

Promoters for NPL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000016758 407 1401 CREB3L1 SIN3A ZNF2 YY1 ZNF766 ZNF207 ZNF143 REST SMARCB1 ZNF592

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

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

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:0005515 protein binding IPI 25416956
GO:0008747 N-acetylneuraminate lyase activity TAS --
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

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
mitochondrion 2
nucleus 2
extracellular 1
peroxisome 1

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:0008152 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

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

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:

CRISPR 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
ECgene alternative splicing isoforms for
NPL

Expression for NPL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for NPL Gene

NURSA nuclear receptor signaling pathways regulating expression of NPL Gene:

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(2.5)
  • Lung(2.5)
  • Heart(2.3)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with NPL: view

Primer Products

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 35 34
  • 99.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NPL 34 35
  • 92.81 (n)
cow
(Bos Taurus)
Mammalia NPL 34 35
  • 91.04 (n)
rat
(Rattus norvegicus)
Mammalia Npl 34
  • 86.77 (n)
mouse
(Mus musculus)
Mammalia Npl 16 35 34
  • 86.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NPL 35
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NPL 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves NPL 35 34
  • 72.44 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NPL 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia npl 34
  • 59.87 (n)
Str.15362 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.20048 34
zebrafish
(Danio rerio)
Actinopterygii npl 35 34
  • 61.43 (n)
OneToOne
wufb53b06 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007700 34
  • 46.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6693 35
  • 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)

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
rs147627214 Uncertain significance 182,818,681(+) TTGGG(A/G)TGGAT reference, missense
rs1000032560 -- 182,798,405(+) GTGTT(G/T)GTAGT intron-variant
rs1000082819 -- 182,807,604(+) GGGCA(C/T)GGTGG intron-variant
rs1000112665 -- 182,791,158(+) GAGGT(C/T)TAAGA intron-variant
rs1000162585 -- 182,788,756(+) ATATA(C/T)ACATT upstream-variant-2KB

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)

Relevant External Links for NPL Gene

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

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

Disorders for NPL Gene

MalaCards: The human disease database

(7) MalaCards diseases for NPL Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
diabetes mellitus, insulin-dependent, 6
  • type 1 diabetes mellitus 6
withdrawal disorder
  • withdrawal syndrome
inflammatory bowel disease 3
  • ibd3
inflammatory bowel disease 4
  • ibd4
type 1 diabetes mellitus 10
  • iddm10
- 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. 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 4 22 64
  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 J.D. (Genomics 2001) 2 3 4 64
  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 A.K. … Varki A. (J. Biol. Chem. 2012) 3 4 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for NPL Gene

Sources for NPL Gene

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