Human Gene NPL (ENST00000488424.5) from GENCODE V44
  Description: N-acetylneuraminate pyruvate lyase (from HGNC NPL)
RefSeq Summary (NM_030769): 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].
Gencode Transcript: ENST00000488424.5
Gencode Gene: ENSG00000135838.14
Transcript (Including UTRs)
   Position: hg38 chr1:182,789,293-182,830,384 Size: 41,092 Total Exon Count: 13 Strand: +


Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionOther SpeciesmRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:182,789,293-182,830,384)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
EnsemblExonPrimerGencodeHGNCLynxMalacards
PubMed

-  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: NPL
Diseases sorted by gene-association score: diabetes mellitus, insulin-dependent, 6 (9), retinal degeneration, late-onset, autosomal dominant (6), inflammatory bowel disease 4 (6), crohn disease-associated growth failure (6), type 1 diabetes mellitus 10 (6), inflammatory bowel disease 3 (5), withdrawal disorder (5), diabetes mellitus, insulin-dependent, 5 (4)

-  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: 20.32 RPKM in Whole Blood
Total median expression: 149.13 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.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  BC042003 - Homo sapiens N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase), mRNA (cDNA clone IMAGE:5311213), containing frame-shift errors.
BC034966 - Homo sapiens N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase), mRNA (cDNA clone IMAGE:4825500).
AK313225 - Homo sapiens cDNA, FLJ93727, highly similar to Homo sapiens N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) (NPL), mRNA.
BC058003 - Homo sapiens N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase), mRNA (cDNA clone MGC:61869 IMAGE:4607228), complete cds.
AK297017 - Homo sapiens cDNA FLJ51988 complete cds, highly similar to Homo sapiens N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) (NPL), mRNA.
AK301068 - Homo sapiens cDNA FLJ53104 complete cds, moderately similar to Homo sapiens N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) (NPL), mRNA.
AY336748 - Homo sapiens N-acetylneuraminate pyruvate lyase-like protein mRNA, complete cds.
AF338436 - Homo sapiens C1orf13 mRNA, complete cds.
BC034429 - Homo sapiens, Similar to chromosome 1 open reading frame 13, clone IMAGE:4778103, mRNA.
BC125051 - Homo sapiens N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase), mRNA (cDNA clone MGC:149582 IMAGE:40116439), complete cds.
KJ906337 - Synthetic construct Homo sapiens clone ccsbBroadEn_16007 NPL gene, encodes complete protein.
KJ899661 - Synthetic construct Homo sapiens clone ccsbBroadEn_09055 NPL gene, encodes complete protein.
CU691282 - Synthetic construct Homo sapiens gateway clone IMAGE:100022158 5' read NPL mRNA.
KJ903319 - Synthetic construct Homo sapiens clone ccsbBroadEn_12713 NPL gene, encodes complete protein.
AK310364 - Homo sapiens cDNA, FLJ17406.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00520 - Amino sugar and nucleotide sugar metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: BC042003, ENST00000488424.1, ENST00000488424.2, ENST00000488424.3, ENST00000488424.4, uc001gpp.1, uc001gpp.2, uc001gpp.3, uc001gpp.4, uc001gpp.5
UCSC ID: ENST00000488424.5
RefSeq Accession: NM_030769

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