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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 56
  • 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 Type 1 Diabetes Mellitus 6 and Late-Onset Retinal Degenration. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. 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 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 , fRNAdb sequence ontologies 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
GH01I182789 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.4 408 1.4 SMAD1 SIN3A ZNF2 YY1 POLR2B ZNF766 ZNF207 ZNF143 REST SMARCB1 NPL DHX9 SMG7-AS1 KRT18P28 LAMC1-AS1 GC01P182831
GH01I182792 Promoter 1 EPDnew 550.8 +2.9 2925 0.1 ATF1 ZNF197 ZBTB11 CBFA2T3 DPF2 ELF1 ZNF644 ZNF395 ZNF83 ZNF148 NPL GC01P182831
GH01I182587 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 11.3 -200.5 -200514 2.2 HDGF PKNOX1 ATF1 ARNT SIN3A ZNF2 YY1 POLR2B ZNF766 E2F8 RNASEL DHX9 NPL GC01M182527 ENSG00000276839
GH01I182084 Enhancer 1.2 Ensembl ENCODE dbSUPER 9.3 -704.3 -704286 1.6 SMAD1 ATF1 FOXA2 RB1 ARID4B RAD21 ZNF335 GLIS2 ARID2 SCRT2 ENSG00000225982 DHX9 HMGN1P4 TEDDM1 GLUL RNASEL RGSL1 NPL ENSG00000224810
GH01I182622 Enhancer 1 ENCODE dbSUPER 10.6 -165.7 -165667 2.7 HDGF EBF1 BMI1 IRF4 RELA NFATC1 ZNF207 ETV6 IKZF2 RUNX3 NPL GC01P182625 LINC01686
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NPL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NPL gene promoter:

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)

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

No Post-translational modifications

Domains & Families for NPL Gene

Gene Families for NPL Gene

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

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

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

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 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

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

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: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

(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

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(2.6)
  • 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 33 34
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia NPL 33 34
  • 92.81 (n)
cow
(Bos Taurus)
Mammalia NPL 33 34
  • 91.04 (n)
rat
(Rattus norvegicus)
Mammalia Npl 33
  • 86.77 (n)
mouse
(Mus musculus)
Mammalia Npl 33 16 34
  • 86.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NPL 34
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NPL 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves NPL 33 34
  • 72.44 (n)
lizard
(Anolis carolinensis)
Reptilia NPL 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia npl 33
  • 59.87 (n)
Str.15362 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.20048 33
zebrafish
(Danio rerio)
Actinopterygii npl 33 34
  • 61.43 (n)
wufb53b06 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007700 33
  • 46.08 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6693 34
  • 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 Variation AA Info Type
rs147627214 uncertain-significance, not specified 182,818,681(+) G/A coding_sequence_variant, missense_variant
rs1000032560 -- 182,798,405(+) T/G intron_variant
rs1000082819 -- 182,807,604(+) T/C intron_variant
rs1000112665 -- 182,791,158(+) T/C intron_variant
rs1000162585 -- 182,788,756(+) T/C upstream_transcript_variant

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

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

Disorders for NPL Gene

MalaCards: The human disease database

(8) MalaCards diseases for NPL Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
type 1 diabetes mellitus 6
  • diabetes mellitus, insulin-dependent, 6
late-onset retinal degenration
  • lord
inflammatory bowel disease 4
  • ibd4
type 1 diabetes mellitus 10
  • diabetes mellitus, insulin-dependent, 10
inflammatory bowel disease 3
  • ibd3
- 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

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 22 58
  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 58
  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 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  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 58

Products for NPL Gene

Sources for NPL Gene

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